Lethal congenital contracture syndrome 3

Preferred Label : Lethal congenital contracture syndrome 3;

Symbol : LCCS3;

CISMeF acronym : LCCS3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple contracture syndrome, israeli bedouin type b;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the gamma type 1 phosphatidylinositol 4-phosphate 5-kinase gene (PIP5K1C, 606102.0001);

Prefixed ID : #611369;

Details

Origin ID

611369;

UMLS CUI

C1969655;

Automatic exact mappings (from CISMeF team)
- phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [ORDO Gene]
- phosphatidylinositol-4-phosphate 5-kinase type 1 gamma [HGNC gene]
Currated CISMeF NLP mapping
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
- Lethal congenital contracture syndrome type 3 (disorder) [SNOMED CT concept]
- lethal congenital contractural syndrome 3 [MeSH concept]
- lethal congenital contractural syndrome 3 [MeSH Supplementary Concept]
- lethal congenital contracture syndrome 3 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 4-phosphate 5-kinase, type I, gamma [OMIM gene]
HPO term(s)
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Multiple joint contractures [HPO term]
- Neonatal death [HPO term]
- Respiratory insufficiency [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal congenital contracture syndrome type 3 [ORDO Disease]
- Lethal congenital contracture syndrome type 3 (disorder) [SNOMED CT concept]
- lethal congenital contractural syndrome 3 [MeSH Supplementary Concept]
- lethal congenital contractural syndrome 3 [MeSH concept]

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