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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cutis laxa
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Accession:DOID:3144 term browser browse the term
Definition:A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed)
Synonyms:exact_synonym: Dermatolysis;   dermatolyses;   dermatomegaly;   loose skin
 narrow_synonym: CUTIS LAXA, DOMINANT/RECESSIVE
 primary_id: MESH:D003483
 alt_id: RDO:0000088
 xref: GARD:6227;   NCI:C84663;   OMIM:PS123700;   ORDO:209
For additional species annotation, visit the Alliance of Genome Resources.


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cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Dermatomegaly ClinVar PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Atp7a ATPase copper transporting alpha susceptibility ISO RGD PMID:10739752 RGD:734621 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISS OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 MouseDO NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Eln elastin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion mutations:cds:
associated with lung diseases; DNA:duplication: :
DNA:deletions:exon:2012del,2039del(human)
CTD PMID:12189163, PMID:15381555, PMID:23442826, PMID:15955094, PMID:9873040, PMID:2745999 RGD:1580330, RGD:9585761, RGD:9585740, RGD:9585738, RGD:9585732 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbln5 fibulin 5 ISO
ISS
DNA:missense mutation:cds:p.S227P (human)
ClinVar Annotator: match by term: Cutis laxa
ClinVar Annotator: match by term: Cutis Laxa, Dominant/Recessive
OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438
ClinVar
MouseDO
PMID:15269314, PMID:16374472, PMID:16652333, PMID:17035250, PMID:19194475, PMID:20007835, PMID:20599547, PMID:21576112, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28765615, PMID:12189163 RGD:1300360 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISS OMIM:123700 | OMIM:219100 | OMIM:219150 | OMIM:219200 | OMIM:612940 | OMIM:613177 | OMIM:614434 | OMIM:614437 | OMIM:614438 MouseDO NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa
CTD
ClinVar
PMID:18304158, PMID:19576563, PMID:19648921, PMID:21739576, PMID:22052856, PMID:24035636, PMID:24913064, PMID:25741868, PMID:25741869, PMID:26516448, PMID:28492532 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Dermatomegaly ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
autosomal dominant cutis laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cutis Laxa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant
ClinVar
CTD
PMID:11175284, PMID:12555228, PMID:16894468, PMID:19029017, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar
OMIM
PMID:5046633, PMID:7884000, PMID:8091333, PMID:9215670, PMID:9215671, PMID:9580666, PMID:9873040, PMID:11175284, PMID:15955094, PMID:16085695, PMID:18348261, PMID:19029017, PMID:19282817, PMID:19593948, PMID:21309044, PMID:23049958, PMID:23401415, PMID:24033266, PMID:25741868, PMID:28391405, PMID:28492532, PMID:30311386 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar PMID:12618961 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. OMIM
ClinVar
PMID:12618961 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar
PMID:8779323, PMID:9643297, PMID:24913064, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
Autosomal Recessive Cutis Laxa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12189163 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa, recessive ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
autosomal recessive cutis laxa type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA ClinVar PMID:8985490, PMID:15776121, PMID:16685658, PMID:17937443, PMID:19664000, PMID:20389311, PMID:22943132, PMID:23532871, PMID:24033266, PMID:25741868 NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA
ClinVar Annotator: match by OMIM:219100
OMIM
ClinVar
PMID:3232707, PMID:12189163, PMID:16374472, PMID:17035250, PMID:18185537, PMID:20599547, PMID:21576112, PMID:22829427, PMID:28492532 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type IA ClinVar PMID:15776121, PMID:20389311 NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
autosomal recessive cutis laxa type IB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,744,195...220,746,224
Ensembl chr 1:220,744,195...220,746,224
JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,806,563...220,808,817
Ensembl chr 1:220,806,473...220,808,804
JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,325,352...220,334,616 JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,715,000...220,724,235
Ensembl chr 1:220,714,995...220,719,939
JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,835,647...220,837,220 JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,353,308...220,355,872
Ensembl chr 1:220,446,425...220,448,989
JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,474,485...220,480,723
Ensembl chr 1:220,474,493...220,480,132
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,727,292...220,729,000
Ensembl chr 1:220,727,292...220,729,000
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,844,579...220,847,967
Ensembl chr 1:220,844,558...220,848,153
JBrowse link
G Drap1 Dr1 associated protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,803,783...220,806,480
Ensembl chr 1:220,803,796...220,806,433
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
ClinVar Annotator: match by OMIM:614437
OMIM
ClinVar
PMID:2038931, PMID:8985490, PMID:15776121, PMID:16685658, PMID:17937443, PMID:19664000, PMID:20389311, PMID:22943132, PMID:23532871, PMID:24033266, PMID:25741868, PMID:26017485, PMID:27339457, PMID:28454995, PMID:28492532, PMID:29620724 NCBI chr 1:220,853,695...220,861,420
Ensembl chr 1:220,854,403...220,861,420
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,746,387...220,751,687
Ensembl chr 1:220,746,387...220,751,684
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,826,560...220,835,066
Ensembl chr 1:220,826,560...220,835,066
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,668,544...220,678,300
Ensembl chr 1:220,668,544...220,678,299
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,492,174...220,502,397
Ensembl chr 1:220,492,176...220,502,272
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 1B
ClinVar PMID:15776121, PMID:20389311, PMID:25741868, PMID:28492532 NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,515,117...220,645,611
Ensembl chr 1:220,516,316...220,644,636
JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,483,529...220,491,469
Ensembl chr 1:220,480,834...220,491,469
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,335,036...220,342,319
Ensembl chr 1:220,335,254...220,342,297
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,762,496...220,771,158
Ensembl chr 1:220,762,349...220,771,181
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,373,288...220,378,080
Ensembl chr 1:220,373,290...220,467,159
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,772,592...220,786,952
Ensembl chr 1:220,772,411...220,787,238
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB ClinVar PMID:28492532 NCBI chr 1:220,470,070...220,474,131
Ensembl chr 1:220,470,089...220,474,496
JBrowse link
autosomal recessive cutis laxa type IC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532, PMID:31115174 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
JBrowse link
autosomal recessive cutis laxa type IIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy
ClinVar Annotator: match by term: CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION
ClinVar Annotator: match by OMIM:219200
OMIM
ClinVar
PMID:15657616, PMID:18157129, PMID:22773132, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Cutis laxa with osteodystrophy ClinVar PMID:25741868 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link
autosomal recessive cutis laxa type IIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: Autosomal recessive cutis laxa type 2B
ClinVar Annotator: match by term: CUTIS LAXA WITH PROGEROID FEATURES
ClinVar Annotator: match by OMIM:612940
OMIM
ClinVar
PMID:11424136, PMID:16045708, PMID:18304158, PMID:18348262, PMID:19576563, PMID:19648921, PMID:22052856, PMID:24035636, PMID:25741868, PMID:25741869, PMID:26516448, PMID:28492532, PMID:32860008 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
autosomal recessive cutis laxa type IIC term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1e1 ATPase H+ transporting V1 subunit E1 ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC ClinVar
OMIM
PMID:27023906, PMID:28065471 NCBI chr 4:153,351,434...153,373,558
Ensembl chr 4:153,351,421...153,373,649
JBrowse link
autosomal recessive cutis laxa type IID term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID ClinVar
OMIM
PMID:24459010, PMID:28065471 NCBI chr11:61,531,386...61,584,634
Ensembl chr11:61,531,416...61,584,634
JBrowse link
autosomal recessive cutis laxa type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:deletions:cds:
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar PMID:28492532, PMID:24913064, PMID:26320891 RGD:13434922, RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome
ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar
OMIM
PMID:8779323, PMID:11092761, PMID:18478038, PMID:21739576, PMID:24767728, PMID:24913064, PMID:25326637, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532, PMID:25077174 RGD:13439710 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: DE BARSY SYNDROME B
ClinVar Annotator: match by OMIM:614438
OMIM
ClinVar
PMID:4076251, PMID:18348262, PMID:19648921, PMID:22052856, PMID:25741868 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link
Congenital Symmetric Circumferential Skin Creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728, PMID:23324645, PMID:26637975 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371
JBrowse link
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar
PMID:19182162, PMID:21262397, PMID:26637975 NCBI chr18:14,814,149...15,780,290 JBrowse link
Generalized Elastolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Generalized elastolysis ClinVar PMID:10811882, PMID:12176944, PMID:12384774, PMID:12714611, PMID:16541094, PMID:18800149, PMID:22209248, PMID:25741868, PMID:28102862, PMID:30311386 NCBI chr 1:101,954,786...102,013,252
Ensembl chr 1:101,959,540...102,013,243
JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Generalized elastolysis ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:79,884,524...79,892,664
Ensembl chr 3:79,884,524...79,892,429
JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613075
OMIM
ClinVar
PMID:19631308, PMID:20424861, PMID:20954239, PMID:24449201, PMID:25741868, PMID:28492532 NCBI chr 3:139,871,330...140,087,679
Ensembl chr 3:139,894,331...140,087,678
JBrowse link
occipital horn syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Occipital horn syndrome
ClinVar Annotator: match by term: Cutis laxa, X-linked
ClinVar Annotator: match by term: EDS IX
DNA:snp:intron:c.2553+3A>C (mouse)
DNA:transversion:intron:g.IVS10+3A>T (human)
ClinVar Annotator: match by OMIM:304150
OMIM
ClinVar
PMID:7842019, PMID:8149649, PMID:8981948, PMID:9246006, PMID:9880610, PMID:10570920, PMID:10739752, PMID:11241493, PMID:11431706, PMID:17108763, PMID:18414213, PMID:20045993, PMID:23281160, PMID:28492532, PMID:7887410, PMID:9467005 RGD:11340205, RGD:11252184 NCBI chr  X:77,076,085...77,193,644
Ensembl chr  X:77,076,106...77,193,644
JBrowse link
Wrinkly Skin Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:278250
OMIM
CTD
ClinVar
PMID:18157129 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      skin disease 2758
        cutis laxa 41
          Autosomal Recessive Cutis Laxa + 34
          Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
          Congenital Symmetric Circumferential Skin Creases + 2
          Cutis Laxa-Marfanoid Syndrome 0
          Generalized Elastolysis 2
          Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
          SCARF Syndrome 0
          Wrinkly Skin Syndrome 1
          autosomal dominant cutis laxa + 3
          occipital horn syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Genetic Skin Diseases 890
              cutis laxa 41
                Autosomal Recessive Cutis Laxa + 34
                Congenital Hemolytic Anemia with Emphysema and Cutis Laxa 0
                Congenital Symmetric Circumferential Skin Creases + 2
                Cutis Laxa-Marfanoid Syndrome 0
                Generalized Elastolysis 2
                Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 1
                SCARF Syndrome 0
                Wrinkly Skin Syndrome 1
                autosomal dominant cutis laxa + 3
                occipital horn syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.