| Descriptor English: | Walker-Warburg Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Walker-Warburg
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| Descriptor Portuguese: | Síndrome de Walker-Warburg | ||||||
| Descriptor French: | Syndrome de Walker-Warburg | ||||||
| Entry term(s): |
CMD, Fukuyama COD MD Syndrome COD-MD Syndrome COD-MD Syndromes Cerebromuscular Dystrophy, Fukuyama Type Cerebroocular Dysplasia Muscular Dystrophy Syndrome Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Chemke Syndrome Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Disease, POMT1-Related Muscle-Eye-Brain Diseases, POMT1-Related Muscle-Eye-Brain Dystrophy, Fukuyama Muscular Fukuyama CMD Fukuyama Congenital Muscular Dystrophy Fukuyama Muscular Dystrophy Fukuyama Syndrome Fukuyama Type Congenital Muscular Dystrophy HARD Syndrome HARD Syndromes Hydrocephalus, Agyria, And Retinal Dysplasia LGMD2K MDDGA1 MEB (Muscle-Eye-Brain) Syndrome Muscle Eye Brain Disease Muscle Eye Brain Disease, POMT1 Related Muscle-Eye-Brain Disease Muscle-Eye-Brain Disease, POMT1-Related Muscle-Eye-Brain Diseases Muscle-Eye-Brain Diseases, POMT1-Related Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Fukuyama Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation Muscular Dystrophy, Limb-Girdle, Type 2K Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 POMT1-Related Muscle-Eye-Brain Disease POMT1-Related Muscle-Eye-Brain Diseases Pagon Syndrome Pagon Syndromes Syndrome, COD-MD Syndrome, Chemke Syndrome, Fukuyama Syndrome, HARD Syndrome, Pagon Syndrome, Walker-Warburg Syndrome, Warburg Syndromes, COD-MD Syndromes, HARD Syndromes, Pagon Walker Warburg Syndrome Walker-Warburg Syndrome, Fktn-Related Warburg Syndrome alpha Dystroglycanopathies alpha-Dystroglycanopathies |
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| Tree number(s): |
C10.500.507.450.499.249.500 C11.270.881 C16.131.666.507.450.499.249.500 C16.320.577.750 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058494 | ||||||
| Scope note: | 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Cobblestone Lissencephaly (2007-2010) Muscular Dystrophies/congenital (1979-2010) |
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| Public MeSH Note: | 2011 |
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| History Note: | 2011 |
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| Related: |
Dystroglycans
MeSH | ||||||
| DeCS ID: | 53966 | ||||||
| Unique ID: | D058494 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2011/01/01 | ||||||
| Date of Entry: | 2010/06/25 | ||||||
| Revision Date: | 2019/07/05 |
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DISEASES
Eye Diseases [C11]Eye Diseases
|
|
Walker-Warburg Syndrome
- Preferred
Muscular Dystrophy, Limb-Girdle, Type 2K
- Related but not broader or narrower
Muscle-Eye-Brain Disease
- Related but not broader or narrower
alpha-Dystroglycanopathies
- Broader
Fukuyama Type Congenital Muscular Dystrophy
- Related but not broader or narrower
Muscle-Eye-Brain Disease, POMT1-Related
- Related but not broader or narrower
| Concept UI |
M0542866 |
| Scope note | 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. |
| Preferred term | Walker-Warburg Syndrome |
| Entry term(s) |
COD MD Syndrome COD-MD Syndrome COD-MD Syndromes Cerebroocular Dysplasia Muscular Dystrophy Syndrome Cerebroocular Dysplasia-Muscular Dystrophy Syndrome Chemke Syndrome HARD Syndrome HARD Syndromes Hydrocephalus, Agyria, And Retinal Dysplasia Pagon Syndrome Pagon Syndromes Syndrome, COD-MD Syndrome, Chemke Syndrome, HARD Syndrome, Pagon Syndrome, Walker-Warburg Syndrome, Warburg Syndromes, COD-MD Syndromes, HARD Syndromes, Pagon Walker Warburg Syndrome Warburg Syndrome |
| Concept UI |
M0564041 |
| Preferred term | Muscular Dystrophy, Limb-Girdle, Type 2K |
| Entry term(s) |
LGMD2K Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
| Concept UI |
M0542868 |
| Preferred term | Muscle-Eye-Brain Disease |
| Entry term(s) |
MEB (Muscle-Eye-Brain) Syndrome Muscle Eye Brain Disease Muscle-Eye-Brain Diseases |
| Concept UI |
M0542869 |
| Preferred term | alpha-Dystroglycanopathies |
| Entry term(s) |
alpha Dystroglycanopathies |
| Concept UI |
M0542867 |
| Preferred term | Fukuyama Type Congenital Muscular Dystrophy |
| Entry term(s) |
CMD, Fukuyama Cerebromuscular Dystrophy, Fukuyama Type Dystrophy, Fukuyama Muscular Fukuyama CMD Fukuyama Congenital Muscular Dystrophy Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy due to Defective Glycosylation of Dystroglycan 4A Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Fukuyama Syndrome, Fukuyama Walker-Warburg Syndrome, Fktn-Related |
| Concept UI |
M000648356 |
| Preferred term | Muscle-Eye-Brain Disease, POMT1-Related |
| Entry term(s) |
Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies, Type A1 Disease, POMT1-Related Muscle-Eye-Brain Diseases, POMT1-Related Muscle-Eye-Brain MDDGA1 Muscle Eye Brain Disease, POMT1 Related Muscle-Eye-Brain Diseases, POMT1-Related Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1 POMT1-Related Muscle-Eye-Brain Disease POMT1-Related Muscle-Eye-Brain Diseases |
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