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STARGARDT DISEASE 1 (disorder) (CUI C1855465) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1855465

Semantic Type: Disease or Syndrome

Synonyms & Abbreviations: (see Synonym Details)
Juvenile macular degeneration
Macular degeneration juvenile
Macular Degeneration, Juvenile
Macular dystrophy with flecks type 1
Macular Dystrophy With Flecks, Type 1
STARGARDT DISEASE 1 (disorder)
Stargardt disease 1
Stargardt Macular Degeneration
STGD1
STGD

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
FR 156 MSH
GENELOCUS ,8,q,2,1,-,q,2,2, OMIM
GENESYMBOL ACHM1 OMIM
GENESYMBOL ACHM3 OMIM
GENESYMBOL CNGB3 OMIM
HM D008268/Q000151 MSH
MDA 20100825 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150818 MSH
RN 0 MSH
SC 3 MSH
SOS A frequent congenital cause of macular degeneration in childhood with an onset between 7 and 12 years, and rapid progression. Visual acuity is severely reduced but peripheral visual fields remain normal throughout life. In Fundus flavimaculatus, many yellow spots appear, uniformly distributed over the FUNDUS OCULI and may fade with age. Lesions are distributed in the posterior pole, sometimes with extension to the equator, and with macular involvement. Atrophy of the RETINAL PIGMENT EPITHELIUM, and choroidal vascular atrophy occur; central visual loss, loss of color vision, PHOTOPHOBIA; PARACENTRAL SCOTOMA, are also features. Germline mutations in the ABCA4 gene have been identified. OMIM: 248200 MSH
TERMUI T737279 MSH
TERMUI T737282 MSH
TERMUI T737283 MSH
TERMUI T737284 MSH
TERMUI T806763 MSH
TERMUI T806765 MSH
TERMUI T842533 MSH
TH GHR (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1855465

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