Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4

Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4;

Symbol : MDDGA4;

CISMeF acronym : MDDGA4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Walker-warburg syndrome or muscle-eye-brain disease, fktn-related; FCMD; Fukuyama congenital muscular dystrophy;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin gene (FKTN, 607440.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #253800;

Details

Origin ID

253800;

UMLS CUI

C0410174;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy Fukuyama type [ICD-11 More detail]
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 [NCIt concept]
- fukuyama type congenital muscular dystrophy [MeSH concept]
DO Cross reference
- Fukuyama congenital muscular dystrophy [DO Concept]
Genes related to phenotype
- Fukutin [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Agenesis of corpus callosum [HPO term]
- Agyria [HPO term]
- Areflexia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Cataract [HPO term]
- Cerebellar cyst [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital muscular dystrophy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Encephalocele [HPO term]
- Exaggerated startle response [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Holoprosencephaly [HPO term]
- Hydrocephalus [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the pyramidal tract [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Lissencephaly [HPO term]
- Microphthalmia [HPO term]
- Muscle weakness [HPO term]
- Myocardial fibrosis [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Pachygyria [HPO term]
- Polymicrogyria [HPO term]
- Pulmonic stenosis [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal detachment [HPO term]
- Retinal dysplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spinal rigidity [HPO term]
- Strabismus [HPO term]
- Transposition of the great arteries [HPO term]
- Type II lissencephaly [HPO term]
ORDO concept(s)
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Muscle-eye-brain disease [ORDO Disease]
- Walker-Warburg syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4 [NCIt concept]
- fukuyama type congenital muscular dystrophy [MeSH concept]
Validated automatic mappings to NTBT
- Walker-Warburg syndrome [MeSH Descriptor]

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