Cutis laxa, autosomal recessive, type iiib

Preferred Label : Cutis laxa, autosomal recessive, type iiib;

Symbol : ARCL3B;

CISMeF acronym : ARCL3B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : De barsy syndrome b;

Description : De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of De Barsy syndrome, see 219150. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200.;

Prefixed ID : #614438;

Details

Origin ID

614438;

UMLS CUI

C3280799;

Automatic exact mappings (from CISMeF team)
- De Barsy syndrome [MeSH concept]
- PYCR1-related De Barsy syndrome [ORDO Disease]
- de barsy syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- autosomal recessive cutis laxa type IIIB [DO Concept]
DO Cross reference
- autosomal recessive cutis laxa type IIIB [DO Concept]
Genes related to phenotype
- Pyrroline-5-carboxylate reductase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Blue sclerae [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Delayed speech and language development [HPO term]
- Dermal translucency [HPO term]
- Developmental glaucoma [HPO term]
- Elbow flexion contracture [HPO term]
- Excessive wrinkled skin [HPO term]
- Fine hair [HPO term]
- Hypertelorism [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Large fontanelles [HPO term]
- Narrow nasal ridge [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Sparse hair [HPO term]
- Thin skin [HPO term]
- Thin vermilion border [HPO term]
Manual NTBT mappings (CISMeF)
- autosomal recessive cutis laxa type III [Disease (Nov.)]
ORDO concept(s)
- De Barsy syndrome [ORDO Disease]
- PYCR1-related De Barsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal recessive cutis laxa type IIIB [DO Concept]

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