ONTOLOGY REPORT - ANNOTATIONS


Term:Alport syndrome
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Accession:DOID:10983 term browser browse the term
Definition:A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
Synonyms:exact_synonym: Alport's syndrome;   Familial Nephritis;   Hematuria Nephropathy Deafness Syndrome;   Hematuric Hereditary Nephritis;   Hemorrhagic Familial Nephritis;   Hemorrhagic Hereditary Nephritis;   Hereditary Familial Congenital Hemorrhagic Nephritis;   Hereditary Hematuria Syndrome;   congenital hereditary hematuria;   hereditary interstitial pyelonephritis;   hereditary nephritis
 primary_id: MESH:D009394
 alt_id: RDO:0000652
 xref: GARD:5785;   OMIM:PS301050;   ORDO:63
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Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:1600924
RGD:8554872
RGD:11554173
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:1600687
RGD:8554872
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175090
G Mmp12 matrix metallopeptidase 12 JBrowse link 8 5,594,717 5,616,494 RGD:7241212
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241252
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:11554173
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:7365078
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:7240710
autosomal dominant Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:6902925
autosomal recessive Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccr1 C-C motif chemokine receptor 1 JBrowse link 8 132,996,646 133,002,201 RGD:5688157
G Col4a3 collagen type IV alpha 3 chain JBrowse link 9 88,357,528 88,484,735 RGD:7240710
RGD:8554872
G Col4a4 collagen type IV alpha 4 chain JBrowse link 9 88,314,763 88,357,183 RGD:7240710
RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:8554872
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:8554872
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
G Mpv17 mitochondrial inner membrane protein MPV17 JBrowse link 6 26,585,713 26,600,265 RGD:13592920
Progressive Renal Failure with Hypertension term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Calca calcitonin-related polypeptide alpha JBrowse link 1 184,184,018 184,188,922 RGD:7204486
X-linked Alport syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atg4a autophagy related 4A, cysteine peptidase JBrowse link X 112,328,907 112,403,157 RGD:8554872
G Col4a5 collagen type IV alpha 5 chain JBrowse link X 112,769,595 112,983,720 RGD:7240710
RGD:8554872
G Col4a6 collagen type IV alpha 6 chain JBrowse link X 112,405,647 112,768,337 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        Urogenital Abnormalities 244
          Alport syndrome 15
            Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
            Alport Syndrome-Like Hereditary Nephritis 0
            Daentl Towsend Siegel Syndrome 0
            Deafness, Nephritis, Anorectal Malformation 0
            Leiomyomatosis, Esophageal and Vulval, with Nephropathy 0
            Progressive Nephropathy with Deafness 0
            Progressive Renal Failure with Hypertension 1
            Salcedo Syndrome 0
            X-linked Alport syndrome 3
            autosomal dominant Alport syndrome 3
            autosomal recessive Alport syndrome 7
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        urinary system disease 2009
          kidney disease 1805
            nephritis 412
              Alport syndrome 15
                Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1
                Alport Syndrome-Like Hereditary Nephritis 0
                Daentl Towsend Siegel Syndrome 0
                Deafness, Nephritis, Anorectal Malformation 0
                Leiomyomatosis, Esophageal and Vulval, with Nephropathy 0
                Progressive Nephropathy with Deafness 0
                Progressive Renal Failure with Hypertension 1
                Salcedo Syndrome 0
                X-linked Alport syndrome 3
                autosomal dominant Alport syndrome 3
                autosomal recessive Alport syndrome 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.