Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related

Preferred Label : Myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mfm, fatal infantile hypertonic, alpha-b crystallin-related;

Description : Fatal infantile hypertonic myofibrillar myopathy is a severe autosomal recessive muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years (summary by Del Bigio et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-B crystallin gene (CRYAB, 123590.0005);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613869;

Details

Origin ID

613869;

UMLS CUI

C5190691;

Currated CISMeF NLP mapping
- Alpha B crystalline myopathy [ICD-11 More detail]
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
- Fatal infantile hypertonic myofibrillar myopathy (disorder) [SNOMED CT concept]
- fatal infantile hypertonic myofibrillar myopathy [DO Concept]
DO Cross reference
- fatal infantile hypertonic myofibrillar myopathy [DO Concept]
Genes related to phenotype
- Crystallin, alpha-b [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Muscular dystrophy [HPO term]
- Rapidly progressive [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Rigidity [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
See also inter- (CISMeF)
- myofibrillar myopathy 7 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fatal infantile hypertonic myofibrillar myopathy [ORDO Disease]
- Fatal infantile hypertonic myofibrillar myopathy (disorder) [SNOMED CT concept]

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