Hydrolethalus syndrome 2

Preferred Label : Hydrolethalus syndrome 2;

Symbol : HLS2;

CISMeF acronym : HLS2;

Type : Phenotype, molecular basis known;

Description : Hydrolethalus syndrome is an autosomal recessive embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. HLS2 is considered a ciliopathy (summary by Putoux et al., 2011). Acrocallosal syndrome (ACLS; 200990) is an allelic disorder with a less severe phenotype.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0001);

Prefixed ID : #614120;

Details

Origin ID

614120;

UMLS CUI

C3279899;

Automatic exact mappings (from CISMeF team)
- Heparin Cofactor 2 [NCIt concept]
- Hydrolethalus [ORDO Disease]
- SERPIND1 protein, human [MeSH Supplementary Concept]
- SERPIND1 wt Allele [NCIt concept]
- hydrolethalus syndrome 2 [DO Concept]
- serpin family D member 1 [HGNC gene]
DO Cross reference
- hydrolethalus syndrome 2 [DO Concept]
Genes related to phenotype
- Kinesin family member 7 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Fetal onset [HPO term]
- Hydrocephalus [HPO term]
- Micrognathia [HPO term]
- Molar tooth sign on MRI [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Hydrolethalus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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