Cutis laxa, autosomal recessive, type iib

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

Symbol : ARCL2B;

CISMeF acronym : ARCL2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cutis laxa with progeroid features;

Description : The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pyrroline-5-carboxylate reductase 1 gene (PYCR1, 179035.0001);

Laboratory abnormalities : No metabolic abnormalities;

Prefixed ID : #612940;

Details

Origin ID

612940;

UMLS CUI

C2751987;

Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]
- cutis laxa, autosomal recessive, type IIB [MeSH concept]
- cutis laxa, autosomal recessive, type IIB [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive cutis laxa type IIB [DO Concept]
Genes related to phenotype
- Pyrroline-5-carboxylate reductase 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Bowing of the long bones [HPO term]
- Broad forehead [HPO term]
- Bulbous nose [HPO term]
- Congenital hip dislocation [HPO term]
- Deeply set eye [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypotelorism [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Large fontanelles [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Narrow nasal ridge [HPO term]
- Osteopenia [HPO term]
- Prominent ears [HPO term]
- Prominent forehead [HPO term]
- Prominent superficial veins [HPO term]
- Protruding ear [HPO term]
- Redundant skin [HPO term]
- Scoliosis [HPO term]
- Triangular face [HPO term]
Not associated HPO term(s)
- Vascular tortuosity [HPO term]
ORDO concept(s)
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]
- cutis laxa, autosomal recessive, type IIB [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type IIB [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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