Walker-Warburg syndrome

Preferred Label : Walker-Warburg syndrome;

MeSH definition : Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.;

MeSH synonym : syndrome, Walker-Warburg; chemke syndrome; syndrome, chemke; warburg syndrome; syndrome, warburg; walker warburg syndrome; COD-MD syndrome; COD MD syndrome; COD-MD syndromes; syndrome, COD-MD; HARD syndrome; HARD syndromes; syndrome, HARD; hydrocephalus, agyria, and retinal dysplasia; pagon syndrome; pagon syndromes; syndrome, pagon; cerebroocular Dysplasia-Muscular dystrophy syndrome; cerebroocular dysplasia muscular dystrophy syndrome;

CISMeF synonym : Walker-Warburg's syndrome; Walker-Warburg; micropolygyria with muscular dystrophy; polymicrogyria with muscular dystrophy; Muscle-Eye-Brain disease, POMT1-Related; syndromes, COD-MD; syndromes, HARD; syndromes, pagon;

Wikipedia automatic translation : Walker–Warburg syndrome;

MeSH Hyperonym : alpha-Dystroglycanopathies; alpha Dystroglycanopathies;

Related MeSH term : muscular dystrophy, Limb-Girdle, type 2K; fukuyama type congenital muscular dystrophy; Muscle-Eye-Brain disease; Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation; Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1; LGMD2K; Muscle-Eye-Brain Diseases; Muscle Eye Brain Disease; MEB (Muscle-Eye-Brain) Syndrome; Fukuyama CMD; CMD, Fukuyama; Muscular Dystrophy, Congenital, Fukuyama Type; Fukuyama Muscular Dystrophy; Dystrophy, Fukuyama Muscular; Muscular Dystrophy, Fukuyama; Fukuyama Syndrome; Syndrome, Fukuyama; Cerebromuscular Dystrophy, Fukuyama Type; Fukuyama Congenital Muscular Dystrophy; Disease, POMT1-Related Muscle-Eye-Brain; Diseases, POMT1-Related Muscle-Eye-Brain; Muscle Eye Brain Disease, POMT1 Related; Muscle-Eye-Brain Diseases, POMT1-Related; POMT1-Related Muscle-Eye-Brain Disease; POMT1-Related Muscle-Eye-Brain Diseases; Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1; Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1; Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A; Walker-Warburg Syndrome, Fktn-Related; Fktn-Related Walker-Warburg Syndrome; Fktn-Related Walker-Warburg Syndromes; Syndrome, Fktn-Related Walker-Warburg; Walker Warburg Syndrome, Fktn Related;

Wikipedia link : https://en.wikipedia.org/wiki/Walker–Warburg syndrome;

Details

Origin ID

D058494;

UMLS CUI

C0265221;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy Fukuyama type [ICD-11 More detail]
- Congenital muscular dystrophy, Fukuyama type [ORDO Disease]
- Fukuyama congenital muscular dystrophy [DO Concept]
- Fukuyama congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Muscle Eye Brain disease [ICD-11 More detail]
- Muscle eye brain disease (disorder) [SNOMED CT concept]
- Muscle-eye-brain disease [ORDO Disease]
- Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 [NCIt concept]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 [NCIt concept]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 [OMIM Phenotype]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 [OMIM Phenotype]
- POMT1-related limb-girdle muscular dystrophy R11 [ORDO Disease]
- Qualitative or quantitative defects of alpha-dystroglycan [ORDO Disease]
- Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2K [DO Concept]
- congenital muscular dystrophy-dystroglycanopathy type A1 [DO Concept]
- fukutin [ORDO Gene]
- protein O-mannosyltransferase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Walker Warburg syndrome [Disease (Nov.)]
- Walker Warburg syndrome [ICD-11 More detail]
- Walker-Warburg Syndrome [NCIt concept]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [PASCAL descriptor]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [ORDO Disease]
- Warburg syndrome (disorder) [SNOMED CT concept]
- warburg syndrome [SNOMED Notion]
DO Cross reference
- Walker-Warburg syndrome [DO Concept]
Indexing information
- FKRP protein, human [MeSH Supplementary Concept]
- FKTN protein, human [MeSH Supplementary Concept]
- protein O-mannosyltransferase [MeSH Supplementary Concept]
ORDO relation(s)
- Walker-Warburg syndrome [ORDO Disease]
Record concept(s)
- Muscle-Eye-Brain Disease, POMT1-Related [MeSH concept]
- Muscle-Eye-Brain disease [MeSH concept]
- Walker-Warburg syndrome [MeSH concept]
- alpha-Dystroglycanopathies [MeSH concept]
- fukuyama type congenital muscular dystrophy [MeSH concept]
- muscular dystrophy, Limb-Girdle, type 2K [MeSH concept]
Related MeSH Supplementary Concept(s)
- COD (cerebroocular dysgenesis) [MeSH Supplementary Concept]
- muscular dystrophy, congenital, with central nervous system involvement [MeSH Supplementary Concept]
See also
- dystroglycans [MeSH Descriptor]
See also inter- (CISMeF)
- Fukuyama congenital muscular dystrophy [Disease (Nov.)]
- limb girdle muscular dystrophy type 2k [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 [OMIM Phenotype]
- Walker Warburg syndrome [Disease (Nov.)]
- Walker-Warburg Syndrome [NCIt concept]
- Walker-Warburg congenital muscular dystrophy (disorder) [SNOMED CT concept]
- Walker-Warburg syndrome [ORDO Disease]
- Walker-Warburg syndrome [DO Concept]
- Walker-Warburg syndrome [PASCAL descriptor]
- Warburg syndrome (disorder) [SNOMED CT concept]
- warburg syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 [OMIM Phenotype]

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