Wrinkly skin syndrome

Preferred Label : Wrinkly skin syndrome;

Symbol : WSS;

CISMeF acronym : WSS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, V0 subunit A2 gene (ATP6V0A2, 611716.0003);

Laboratory abnormalities : Normal isoelectric focusing of apolipoprotein CIII; Abnormal isoelectric focusing of serum transferrin;

Prefixed ID : #278250;

Détails

Origin ID

278250;

UMLS CUI

C0406587;

Currated CISMeF NLP mapping
- Wrinkly skin syndrome [ICD-11 More detail]
- Wrinkly skin syndrome [MeSH concept]
- Wrinkly skin syndrome [ORDO Disease]
- Wrinkly skin syndrome (disorder) [SNOMED CT concept]
- wrinkly skin syndrome [MeSH Supplementary 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]
- Atrial septal dilatation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Congenital hip dislocation [HPO term]
- Coxa vara [HPO term]
- Cryptorchidism [HPO term]
- Deep palmar crease [HPO term]
- Deep plantar creases [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Fragile nails [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the musculature [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Joint hypermobility [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Nasal speech [HPO term]
- Neonatal wrinkled skin of hands and feet [HPO term]
- Osteopenia [HPO term]
- Palmoplantar cutis laxa [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Poorly developed skeletal musculature [HPO term]
- Premature rupture of membranes [HPO term]
- Progressive microcephaly [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Short nail [HPO term]
- Short stature [HPO term]
- Slender long bone [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Talipes equinovarus [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Wrinkly skin syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wrinkly skin syndrome [ORDO Disease]
- Wrinkly skin syndrome [MeSH concept]
- Wrinkly skin syndrome [ICD-11 More detail]
- Wrinkly skin syndrome (disorder) [SNOMED CT concept]
- wrinkly skin syndrome [MeSH Supplementary Concept]
- wrinkly skin syndrome [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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