Cutis laxa, autosomal dominant 3

Preferred Label : Cutis laxa, autosomal dominant 3;

Symbol : ADCL3;

CISMeF acronym : ADCL3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0014);

Laboratory abnormalities : Decreased arginine levels (in some patients); Decreased proline levels (in some patients); Decreased ornithine levels (in some patients);

Prefixed ID : #616603;

Details

Origin ID

616603;

UMLS CUI

C4225268;

CISMeF manual mappings
- autosomal dominant cutis laxa 3 [DO Concept]
DO Cross reference
- autosomal dominant cutis laxa 3 [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 18 family, member a1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Aortic regurgitation [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brisk reflexes [HPO term]
- Broad forehead [HPO term]
- Corneal opacity [HPO term]
- Cutis laxa [HPO term]
- Delayed cranial suture closure [HPO term]
- Developmental cataract [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hernia [HPO term]
- Hip dislocation [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Osteopenia [HPO term]
- Postnatal growth retardation [HPO term]
- Premature skin wrinkling [HPO term]
- Prominent forehead [HPO term]
- Protruding ear [HPO term]
- Psychomotor retardation [HPO term]
- Small foramen magnum [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Triangular face [HPO term]
- Unilateral renal agenesis [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Autosomal dominant cutis laxa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant cutis laxa 3 [DO Concept]

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