Lethal congenital contracture syndrome 5

Preferred Label : Lethal congenital contracture syndrome 5;

Symbol : LCCS5;

CISMeF acronym : LCCS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, centronuclear, lethal, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynamin-2 gene (DNM2, 602378.0013);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #615368;

Details

Origin ID

615368;

UMLS CUI

C4706410;

Currated CISMeF NLP mapping
- Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) [SNOMED CT concept]
- Fetal akinesia-cerebral and retinal hemorrhage syndrome [ORDO Disease]
Genes related to phenotype
- Dynamin 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital contracture [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Decreased fetal movement [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Polyhydramnios [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal hemorrhage [HPO term]
- Small for gestational age [HPO term]
- Thin ribs [HPO term]
ORDO concept(s)
- Fetal akinesia-cerebral and retinal hemorrhage syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) [SNOMED CT concept]
- Fetal akinesia-cerebral and retinal hemorrhage syndrome [ORDO Disease]

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