MCID: MSC102
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 12 57 29 13 6 73
Mddga12 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A12 75
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomk-Related 57
Walker-Warburg Syndrome or Muscle-Eye-Brain Disease Pomk-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
clinical variability
three unrelated families have been reported (last curated november 2014)


HPO:

32
muscular dystrophy-dystroglycanopathy , type a, 12:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

OMIM : 57 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Stevens et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (615249)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 12, is also known as mddga12. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 12 is POMK (Protein-O-Mannose Kinase). Affiliated tissues include brain and eye, and related phenotypes are agenesis of corpus callosum and hydrocephalus

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle- eye-brain disease.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
cerebellar hypoplasia
poor speech
psychomotor retardation, severe
delayed psychomotor development, severe
more
Head And Neck Eyes:
cataract
microphthalmia
coloboma
retinal degeneration
large eyes
more
Respiratory:
respiratory insufficiency due to muscle weakness

Head And Neck Ears:
sensorineural hearing loss

Abdomen Gastrointestinal:
feeding problems

Skeletal Spine:
scoliosis

Muscle Soft Tissue:
neonatal hypotonia
muscular dystrophy
muscle weakness and atrophy, progressive
defective glycosylation of alpha-dystroglycan seen on biopsy
secondary loss of merosin and desmin

Head And Neck Head:
poor head control
microcephaly, progressive (1 patient)

Skeletal:
joint contractures

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

615249

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
2 hydrocephalus 32 occasional (7.5%) HP:0000238
3 seizures 32 occasional (7.5%) HP:0001250
4 scoliosis 32 HP:0002650
5 cataract 32 HP:0000518
6 global developmental delay 32 HP:0001263
7 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
8 visual impairment 32 HP:0000505
9 neonatal hypotonia 32 HP:0001319
10 flexion contracture 32 HP:0001371
11 respiratory insufficiency due to muscle weakness 32 HP:0002747
12 elevated serum creatine phosphokinase 32 HP:0003236
13 feeding difficulties 32 HP:0011968
14 reduced visual acuity 32 HP:0007663
15 cerebellar hypoplasia 32 occasional (7.5%) HP:0001321
16 microphthalmia 32 HP:0000568
17 muscular dystrophy 32 HP:0003560
18 coloboma 32 HP:0000589
19 poor head control 32 HP:0002421
20 poor speech 32 HP:0002465
21 retinal degeneration 32 HP:0000546
22 progressive microcephaly 32 HP:0000253
23 type ii lissencephaly 32 occasional (7.5%) HP:0007260
24 hypoplasia of the brainstem 32 occasional (7.5%) HP:0002365
25 abnormally large globe 32 HP:0001090

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type a, 12 29 POMK

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

75
# Symbol AA change Variation ID SNP ID
1 POMK p.Leu137Arg VAR_069625 rs397509385
2 POMK p.Gln258Arg VAR_069626 rs397509386
3 POMK p.Val302Asp VAR_072560 rs199756983

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 12:

6
(show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMK NM_032237.4(POMK): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs397509385 GRCh37 Chromosome 8, 42977377: 42977377
2 POMK NM_032237.4(POMK): c.410T> G (p.Leu137Arg) single nucleotide variant Pathogenic rs397509385 GRCh38 Chromosome 8, 43122234: 43122234
3 POMK NM_032237.4(POMK): c.773A> G (p.Gln258Arg) single nucleotide variant Pathogenic rs397509386 GRCh37 Chromosome 8, 42977740: 42977740
4 POMK NM_032237.4(POMK): c.773A> G (p.Gln258Arg) single nucleotide variant Pathogenic rs397509386 GRCh38 Chromosome 8, 43122597: 43122597
5 POMK NM_032237.4(POMK): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs587777423 GRCh37 Chromosome 8, 42977292: 42977292
6 POMK NM_032237.4(POMK): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs587777423 GRCh38 Chromosome 8, 43122149: 43122149
7 POMK NM_032237.4(POMK): c.288delT (p.Leu97Cysfs) deletion Pathogenic rs606231306 GRCh38 Chromosome 8, 43122112: 43122112
8 POMK NM_032237.4(POMK): c.288delT (p.Leu97Cysfs) deletion Pathogenic rs606231306 GRCh37 Chromosome 8, 42977255: 42977255
9 POMK NM_032237.4(POMK): c.905T> A (p.Val302Asp) single nucleotide variant Uncertain significance rs199756983 GRCh38 Chromosome 8, 43122729: 43122729
10 POMK NM_032237.4(POMK): c.905T> A (p.Val302Asp) single nucleotide variant Uncertain significance rs199756983 GRCh37 Chromosome 8, 42977872: 42977872
11 POMK NM_032237.4(POMK): c.114C> T (p.Leu38=) single nucleotide variant Likely benign rs182189714 GRCh37 Chromosome 8, 42958805: 42958805
12 POMK NM_032237.4(POMK): c.114C> T (p.Leu38=) single nucleotide variant Likely benign rs182189714 GRCh38 Chromosome 8, 43103662: 43103662
13 POMK NM_032237.4(POMK): c.624G> C (p.Leu208=) single nucleotide variant Benign rs34040483 GRCh37 Chromosome 8, 42977591: 42977591
14 POMK NM_032237.4(POMK): c.624G> C (p.Leu208=) single nucleotide variant Benign rs34040483 GRCh38 Chromosome 8, 43122448: 43122448
15 POMK NM_032237.4(POMK): c.618C> T (p.Asn206=) single nucleotide variant Benign/Likely benign rs7005111 GRCh37 Chromosome 8, 42977585: 42977585
16 POMK NM_032237.4(POMK): c.618C> T (p.Asn206=) single nucleotide variant Benign/Likely benign rs7005111 GRCh38 Chromosome 8, 43122442: 43122442
17 POMK NM_032237.4(POMK): c.795C> T (p.Asp265=) single nucleotide variant Benign rs36071326 GRCh37 Chromosome 8, 42977762: 42977762
18 POMK NM_032237.4(POMK): c.795C> T (p.Asp265=) single nucleotide variant Benign rs36071326 GRCh38 Chromosome 8, 43122619: 43122619
19 POMK NM_032237.4(POMK): c.886A> G (p.Ile296Val) single nucleotide variant Likely benign rs6990761 GRCh37 Chromosome 8, 42977853: 42977853
20 POMK NM_032237.4(POMK): c.886A> G (p.Ile296Val) single nucleotide variant Likely benign rs6990761 GRCh38 Chromosome 8, 43122710: 43122710
21 POMK NM_032237.4(POMK): c.20A> G (p.Asn7Ser) single nucleotide variant Uncertain significance rs143957574 GRCh37 Chromosome 8, 42958711: 42958711
22 POMK NM_032237.4(POMK): c.20A> G (p.Asn7Ser) single nucleotide variant Uncertain significance rs143957574 GRCh38 Chromosome 8, 43103568: 43103568
23 POMK NM_032237.4(POMK): c.373A> T (p.Met125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146303063 GRCh38 Chromosome 8, 43122197: 43122197
24 POMK NM_032237.4(POMK): c.373A> T (p.Met125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146303063 GRCh37 Chromosome 8, 42977340: 42977340
25 POMK NM_032237.4(POMK): c.565A> G (p.Ile189Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149297443 GRCh37 Chromosome 8, 42977532: 42977532
26 POMK NM_032237.4(POMK): c.565A> G (p.Ile189Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149297443 GRCh38 Chromosome 8, 43122389: 43122389
27 POMK NM_032237.4(POMK): c.714C> T (p.Ser238=) single nucleotide variant Benign/Likely benign rs148949414 GRCh37 Chromosome 8, 42977681: 42977681
28 POMK NM_032237.4(POMK): c.714C> T (p.Ser238=) single nucleotide variant Benign/Likely benign rs148949414 GRCh38 Chromosome 8, 43122538: 43122538
29 POMK NM_032237.4(POMK): c.759C> T (p.Phe253=) single nucleotide variant Likely benign rs201232766 GRCh38 Chromosome 8, 43122583: 43122583
30 POMK NM_032237.4(POMK): c.759C> T (p.Phe253=) single nucleotide variant Likely benign rs201232766 GRCh37 Chromosome 8, 42977726: 42977726
31 POMK NC_000008.10: g.(?_42958672)_(42978040_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 42978040
32 POMK NM_032237.4(POMK): c.68T> C (p.Leu23Pro) single nucleotide variant Uncertain significance rs200277006 GRCh37 Chromosome 8, 42958759: 42958759
33 POMK NM_032237.4(POMK): c.68T> C (p.Leu23Pro) single nucleotide variant Uncertain significance rs200277006 GRCh38 Chromosome 8, 43103616: 43103616
34 POMK NM_032237.4(POMK): c.704A> G (p.Asn235Ser) single nucleotide variant Uncertain significance rs200742772 GRCh38 Chromosome 8, 43122528: 43122528
35 POMK NM_032237.4(POMK): c.704A> G (p.Asn235Ser) single nucleotide variant Uncertain significance rs200742772 GRCh37 Chromosome 8, 42977671: 42977671
36 POMK NM_032237.4(POMK): c.902T> C (p.Met301Thr) single nucleotide variant Benign rs33920561 GRCh37 Chromosome 8, 42977869: 42977869
37 POMK NM_032237.4(POMK): c.902T> C (p.Met301Thr) single nucleotide variant Benign rs33920561 GRCh38 Chromosome 8, 43122726: 43122726
38 POMK NM_032237.4(POMK): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs757744253 GRCh37 Chromosome 8, 42977877: 42977877
39 POMK NM_032237.4(POMK): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs757744253 GRCh38 Chromosome 8, 43122734: 43122734
40 POMK NM_032237.4(POMK): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs138216719 GRCh37 Chromosome 8, 42977374: 42977374
41 POMK NM_032237.4(POMK): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs138216719 GRCh38 Chromosome 8, 43122231: 43122231
42 POMK NM_032237.4(POMK): c.1013T> G (p.Leu338Arg) single nucleotide variant Likely benign rs200555259 GRCh37 Chromosome 8, 42977980: 42977980
43 POMK NM_032237.4(POMK): c.1013T> G (p.Leu338Arg) single nucleotide variant Likely benign rs200555259 GRCh38 Chromosome 8, 43122837: 43122837
44 POMK NM_032237.4(POMK): c.142T> C (p.Ser48Pro) single nucleotide variant Likely benign rs34466747 GRCh37 Chromosome 8, 42958833: 42958833
45 POMK NM_032237.4(POMK): c.142T> C (p.Ser48Pro) single nucleotide variant Likely benign rs34466747 GRCh38 Chromosome 8, 43103690: 43103690
46 POMK NM_032237.4(POMK): c.882G> A (p.Gly294=) single nucleotide variant Likely benign rs56282240 GRCh38 Chromosome 8, 43122706: 43122706
47 POMK NM_032237.4(POMK): c.882G> A (p.Gly294=) single nucleotide variant Likely benign rs56282240 GRCh37 Chromosome 8, 42977849: 42977849
48 POMK NM_032237.4(POMK): c.1006G> A (p.Asp336Asn) single nucleotide variant Benign rs113361507 GRCh37 Chromosome 8, 42977973: 42977973
49 POMK NM_032237.4(POMK): c.1006G> A (p.Asp336Asn) single nucleotide variant Benign rs113361507 GRCh38 Chromosome 8, 43122830: 43122830
50 POMK NM_032237.4(POMK): c.254A> G (p.Lys85Arg) single nucleotide variant Uncertain significance rs752925552 GRCh38 Chromosome 8, 43103802: 43103802

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 12

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