Myopathy, myofibrillar, 7

Preferred Label : Myopathy, myofibrillar, 7;

Symbol : MFM7;

CISMeF acronym : MFM7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kyphoscoliosis peptidase gene (KY, 605739.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #617114;

Détails

Origin ID

617114;

UMLS CUI

C4310711;

Automatic exact mappings (from CISMeF team)
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome [ORDO Disease]
CISMeF manual mappings
- myofibrillar myopathy 7 [DO Concept]
DO Cross reference
- myofibrillar myopathy 7 [DO Concept]
Genes related to phenotype
- Kyphoscoliosis peptidase [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Bowel incontinence [HPO term]
- Congenital onset [HPO term]
- Difficulty walking [HPO term]
- Dysphagia [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Enuresis nocturna [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Increased Z-disc width [HPO term]
- Increased circulating lactate dehydrogenase concentration [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Limited hip extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Multiple joint contractures [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Nemaline bodies [HPO term]
- Pes cavus [HPO term]
- Scoliosis [HPO term]
- Shoulder flexion contracture [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Spinal rigidity [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic kyphosis [HPO term]
- Tongue atrophy [HPO term]
- Type 2 muscle fiber predominance [HPO term]
- Urinary incontinence [HPO term]
- Z-band streaming [HPO term]
ORDO concept(s)
- Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- myofibrillar myopathy 7 [DO Concept]

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

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