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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:Tangier disease
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Accession:DOID:1388 term browser browse the term
Definition:An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.
Synonyms:exact_synonym: A-alphalipoprotein Neuropathies;   A-alphalipoprotein Neuropathy;   Alpha High Density Lipoprotein Deficiency Disease;   Analphalipoproteinemias;   Cholesterol Thesaurismoses;   Cholesterol Thesaurismosis;   HDLDT1;   High Density Lipoprotein Deficiency, Tangier Type;   High Density Lipoprotein Deficiency, Type 1;   High Density Lipoprotein Deficiency, Type I;   Neuropathy of Tangier Disease;   TGD;   Tangier Disease Neuropathy;   Tangier hereditary neuropathy;   analphalipoproteinemia;   familial alpha-lipoprotein deficiency;   familial high density lipoprotein deficiency;   familial hypoalphalipoproteinemia
 primary_id: MESH:D013631
 alt_id: OMIM:205400
 xref: GARD:7731;   NCI:C85182;   ORDO:31150
For additional species annotation, visit the Alliance of Genome Resources.


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Tangier disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO DNA:mutations: :
ClinVar Annotator: match by OMIM:205400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tangier disease
OMIM
ClinVar
CTD
PMID:10431236, PMID:10431237, PMID:10535983, PMID:10706591, PMID:10938021, PMID:11238261, PMID:11257261, PMID:11476961, PMID:11476965, PMID:11940086, PMID:12111381, PMID:12204794, PMID:12624133, PMID:12702168, PMID:12763760, PMID:15297675, PMID:15486467, PMID:15520867, PMID:15790791, PMID:15935359, PMID:16226177, PMID:16343503, PMID:16372134, PMID:16429166, PMID:16806540, PMID:16855366, PMID:16873719, PMID:17303779, PMID:17383594, PMID:17710129, PMID:18199144, PMID:18523221, PMID:18776170, PMID:19133158, PMID:19202195, PMID:19596329, PMID:19743957, PMID:20011639, PMID:20093111, PMID:20418488, PMID:20427018, PMID:20595220, PMID:20656214, PMID:20800056, PMID:21315358, PMID:21860089, PMID:21875686, PMID:22923419, PMID:22923420, PMID:22995991, PMID:23087442, PMID:23139370, PMID:23152888, PMID:23376243, PMID:23559627, PMID:23685560, PMID:23770607, PMID:24036952, PMID:24497850, PMID:24503134, PMID:24894453, PMID:25215231, PMID:25741868, PMID:26255038, PMID:26350511, PMID:27884173, PMID:28492532, PMID:28870971, PMID:29224928, PMID:29535370, PMID:11086027, PMID:10431236, PMID:15841208 RGD:1600951, RGD:1298571, RGD:19165130 NCBI chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency
ClinVar PMID:8282791 NCBI chr 8:50,525,091...50,526,875
Ensembl chr 8:50,525,091...50,526,875
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          polyneuropathy 92
            Tangier disease 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            lipid metabolism disorder 900
              Dyslipidemias 292
                hypolipoproteinemia 14
                  Hypoalphalipoproteinemias 4
                    Tangier disease 2
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.