Cutis laxa, autosomal recessive, type iiia

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

Symbol : ARCL3A;

CISMeF acronym : ARCL3A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : De barsy syndrome a; Progeroid syndrome of de barsy; Cutis laxa, corneal clouding, and mental retardation;

Description : De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). - Genetic Heterogeneity of De Barsy Syndrome Autosomal recessive cutis laxa type IIIA (ARCL3A) is caused by mutation in the ALDH18A1 gene. ARCL3B is caused by mutation in the PYCR1 gene (179035). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, 138250.0001);

Prefixed ID : #219150;

Details

Origin ID

219150;

UMLS CUI

C5234852;

CISMeF manual mappings
- Progressive neurodegeneration - joint laxity - cataract [ICD-11 More detail]
Currated CISMeF NLP mapping
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- autosomal recessive cutis laxa type IIIA [DO Concept]
DO Cross reference
- autosomal recessive cutis laxa type IIIA [DO Concept]
Genes related to phenotype
- Aldehyde dehydrogenase 18 family, member a1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cataract [HPO term]
- Congenital hip dislocation [HPO term]
- Corneal arcus [HPO term]
- Corneal opacity [HPO term]
- Cryptorchidism [HPO term]
- Cutis laxa [HPO term]
- Delayed skeletal maturation [HPO term]
- Dwarfism [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Isolated cases [HPO term]
- Joint hypermobility [HPO term]
- Large fontanelles [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Narrow nasal ridge [HPO term]
- Pectus excavatum [HPO term]
- Prominent forehead [HPO term]
- Prominent superficial blood vessels [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Sparse hair [HPO term]
- Sporadic [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Thin skin [HPO term]
- Umbilical hernia [HPO term]
- Wide cranial sutures [HPO term]
- Wormian bones [HPO term]
Manual NTBT mappings (CISMeF)
- autosomal recessive cutis laxa type III [Disease (Nov.)]
ORDO concept(s)
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive cutis laxa, type 3 [ICD-11 More detail]
- autosomal recessive cutis laxa type IIIA [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- Autosomal recessive cutis laxa, type 3 [ICD-11 More detail]
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [MeSH concept]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [Disease (Nov.)]
- Progressive neurodegeneration - joint laxity - cataract [ICD-11 More detail]
- autosomal recessive cutis laxa type III [DO Concept]
- autosomal recessive cutis laxa type III [Disease (Nov.)]
- autosomal recessive cutis laxa type IIIA [DO Concept]
- cutis laxa-corneal clouding-oligophrenia syndrome [SNOMED Notion]
- de Barsy syndrome (disorder) [SNOMED CT concept]
- de barsy syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [Disease (Nov.)]
- De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [MedDRA Preferred Term]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [MeSH concept]
- autosomal recessive cutis laxa type III [DO Concept]
- de Barsy syndrome (disorder) [SNOMED CT concept]
- de barsy syndrome [MeSH Supplementary Concept]

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