Arthrogryposis multiplex congenita 3, myogenic type

Preferred Label : Arthrogryposis multiplex congenita 3, myogenic type;

Symbol : AMC3;

CISMeF acronym : AMC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AMCM; Arthrogryposis multiplex congenita, myogenic type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the spectrin repeat-containing nuclear envelope protein 1 gene (SYNE1, 608441.0011);

Laboratory abnormalities : Normal serum creatine kinase;

Prefixed ID : #618484;

Details

Origin ID

618484;

UMLS CUI

C5193121;

Currated CISMeF NLP mapping
- Autosomal recessive myogenic arthrogryposis multiplex congenita [ORDO Disease]
- Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) [SNOMED CT concept]
Genes related to phenotype
- Spectrin repeat-containing nuclear envelope protein 1 [OMIM gene]
HPO term(s)
- Adducted thumb [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Delayed gross motor development [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Hypermetropia [HPO term]
- Hyporeflexia [HPO term]
- Kyphosis [HPO term]
- Progressive [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Small for gestational age [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Weakness of facial musculature [HPO term]
Not associated HPO term(s)
- Abnormal circulating creatine kinase concentration [HPO term]
ORDO concept(s)
- Autosomal recessive myogenic arthrogryposis multiplex congenita [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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