ONTOLOGY REPORT - ANNOTATIONS


Term:Walker-Warburg syndrome
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Accession:DOID:0050560 term browser browse the term
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.
Synonyms:exact_synonym: COD MD Syndrome;   COD-MD Syndromes;   Cerebromuscular Dystrophy, Fukuyama Type;   Cerebroocular Dysplasia Muscular Dystrophy Syndrome;   Chemke Syndrome;   Congenital Muscular Dystrophy Dystroglycanopathy with Brain and Eye Anomalies, Type A1;   FCMD;   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;   MDDGA1;   MDDGA3;   MEB (Muscle-Eye-Brain) Syndrome;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3;   Muscle Eye Brain Disease;   Muscle-Eye-Brain Diseases;   Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation;   Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1;   Pagon Syndrome;   Pagon Syndromes;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED;   WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED;   Warburg syndrome;   alpha dystroglycanopathies
 narrow_synonym: WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY
 primary_id: MESH:D058494
 alt_id: OMIM:236670;   OMIM:253280;   RDO:0000862
 xref: GARD:2599;   OMIM:PS236670
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Walker-Warburg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aqp4 aquaporin 4 JBrowse link 18 6,766,009 6,782,757 RGD:5148028
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:11554173
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:11554173
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:13592920
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:11554173
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537405
RGD:11554173
RGD:11537406
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
RGD:11554173
RGD:11667969
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:1598929
RGD:8554872
RGD:11554173
RGD:11537406
RGD:11062579
RGD:11576320
G Fsd1l fibronectin type III and SPRY domain containing 1-like JBrowse link 5 70,441,075 70,517,131 RGD:8554872
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:11554173
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:11554173
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 5 135,007,343 135,017,220 RGD:7240710
RGD:8554872
RGD:11071487
RGD:1554293
RGD:11065512
RGD:11532772
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:11532770
RGD:11554173
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:731235
RGD:8554872
RGD:11073321
RGD:11532686
RGD:7240710
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:11532761
RGD:8554872
RGD:11554173
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:11554173
RGD:8554872
G Tspan1 tetraspanin 1 JBrowse link 5 135,019,206 135,032,412 RGD:8554872
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:11537476
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:8554872
G Fktn fukutin JBrowse link 5 70,522,001 70,578,270 RGD:7240710
RGD:8554872
RGD:11537476
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rxylt1 ribitol xylosyltransferase 1 JBrowse link 7 64,329,341 64,341,201 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:7240710
RGD:8554872
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Snta1 syntrophin, alpha 1 JBrowse link 3 149,874,023 149,905,980 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomk protein-O-mannose kinase JBrowse link 16 70,854,825 70,869,653 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4gat1 beta-1,4-glucuronyltransferase 1 JBrowse link 1 220,322,854 220,325,076 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmppb GDP-mannose pyrophosphorylase B JBrowse link 8 116,826,251 116,856,159 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pomt2 protein-O-mannosyltransferase 2 JBrowse link 6 111,137,329 111,176,991 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkrp fukutin related protein JBrowse link 1 78,733,461 78,740,803 RGD:7240710
RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Large1 LARGE xylosyl- and glucuronyltransferase 1 JBrowse link 19 12,481,563 12,945,320 RGD:8554872
RGD:7240710
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankmy2 ankyrin repeat and MYND domain containing 2 JBrowse link 6 55,646,905 55,689,223 RGD:8554872
G Bzw2 basic leucine zipper and W2 domains 2 JBrowse link 6 55,586,754 55,647,650 RGD:8554872
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:7240710
RGD:8554872
G Lrrc72 leucine rich repeat containing 72 JBrowse link 6 55,694,269 55,757,234 RGD:8554872
G Sostdc1 sclerostin domain containing 1 JBrowse link 6 55,812,820 55,816,994 RGD:8554872
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crppa CDP-L-ribitol pyrophosphorylase A JBrowse link 6 55,880,136 56,159,466 RGD:8554872
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) JBrowse link 8 130,615,482 130,631,144 RGD:7240710
RGD:8554872
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dag1 dystroglycan 1 JBrowse link 8 116,980,501 116,993,182 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Walker-Warburg syndrome 26
        COD (Cerebroocular Dysgenesis) 0
        Congenital Muscular Dystrophy with Central Nervous System Involvement 0
        Fukuyama congenital muscular dystrophy 3
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11 5
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 2 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 5 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 6 1
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 7 5
        Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8 2
        Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                muscle tissue disease 636
                  atrophic muscular disease 243
                    muscular dystrophy 242
                      congenital muscular dystrophy 60
                        Walker-Warburg syndrome 26
                          COD (Cerebroocular Dysgenesis) 0
                          Congenital Muscular Dystrophy with Central Nervous System Involvement 0
                          Fukuyama congenital muscular dystrophy 3
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11 5
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 12 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 2 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 5 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 6 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 7 5
                          Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8 2
                          Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.