Cutis laxa, autosomal recessive, type iia

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

Symbol : ARCL2A;

CISMeF acronym : ARCL2A; ARCL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cutis laxa with bone dystrophy; ARCL2; Cutis laxa with congenital disorder of glycosylation; Cutis laxa with joint laxity and retarded development; Cutis laxa, debre type; Cutis laxa with growth and developmental delay;

Description : Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). - Genetic Heterogeneity of Cutis Laxa Type II;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, V0 subunit A2 gene (ATP6V0A2, 611716.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin; Defect in N- and O-glycosylation;

Prefixed ID : #219200;

Details

Origin ID

219200;

UMLS CUI

C0268355;

Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Autosomal recessive cutis laxa type 2A (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2A [ICD-11 More detail]
- Cutis laxa with osteodystrophy (disorder) [SNOMED CT concept]
- autosomal recessive cutis laxa type IIA [DO Concept]
- autosomal recessive cutis laxa type IIA [Disease (Nov.)]
- cutis laxa with osteodystrophy [SNOMED Notion]
- cutis laxa, autosomal recessive, type IIA [MeSH concept]
- cutis laxa, autosomal recessive, type IIA [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive cutis laxa type IIA [DO Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, v0 subunit a2 [OMIM gene]
HPO term(s)
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Abnormality of hair texture [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Carious teeth [HPO term]
- Coarse hair [HPO term]
- Congenital hip dislocation [HPO term]
- Cutis laxa [HPO term]
- Dandy-Walker malformation [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint hypermobility [HPO term]
- Lipodystrophy [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Pachygyria [HPO term]
- Pes planus [HPO term]
- Polymicrogyria [HPO term]
- Redundant skin [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Strabismus [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Autosomal recessive cutis laxa type 2, classic type [ORDO Disease]
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive cutis laxa type 2, classic type [ORDO Disease]
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Autosomal recessive cutis laxa type 2A (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2A [ICD-11 More detail]
- Cutis laxa with osteodystrophy (disorder) [SNOMED CT concept]
- autosomal recessive cutis laxa type IIA [DO Concept]
- autosomal recessive cutis laxa type IIA [Disease (Nov.)]
- cutis laxa with osteodystrophy [SNOMED Notion]
- cutis laxa, autosomal recessive, type IIA [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type IIA [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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