Leber congenital amaurosis 9

Preferred Label : Leber congenital amaurosis 9;

Symbol : LCA9;

CISMeF acronym : LCA9;

Type : Phenotype, molecular basis known;

Description : Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 (608700) mutations consistently cause severe and rapidly progressive macular degeneration leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nicotinamide nucleotide adenylyltransferase-1 gene (NMNAT1, 608700.0001);

Prefixed ID : #608553;

Details

Origin ID

608553;

UMLS CUI

C1837873;

Broader ORDO disease(s)
- Leber congenital amaurosis [ORDO Disease]
Currated CISMeF NLP mapping
- Leber congenital amaurosis 9 [DO Concept]
- amaurosis congenita of leber, type 9 [MeSH Supplementary Concept]
DO Cross reference
- Leber congenital amaurosis 9 [DO Concept]
Genes related to phenotype
- Nicotinamide nucleotide adenylyltransferase 1 [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypermetropia [HPO term]
- Macular coloboma [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
ORDO concept(s)
- Leber congenital amaurosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amaurosis congenita of Leber, type 9 [MeSH concept]
- Leber congenital amaurosis 9 [DO Concept]
- amaurosis congenita of leber, type 9 [MeSH Supplementary Concept]

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