MCID: MSC118
MIFTS: 22

Muscular Dystrophy-Dystroglycanopathy , Type C, 12

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 12 57 75 29 6 73
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomk-Related 57 75
Mddgc12 57 75
Limb-Girdle Muscular Dystrophy Due to Pomk Deficiency 59
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C12 75
Lgmd Due to Pomk Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
limb-girdle muscular dystrophy due to pomk deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
two jordanian sibs have been reported (last curated november 2014)


HPO:

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


Classifications:



External Ids:

OMIM 57 616094
Orphanet 59 ORPHA445110
ICD10 via Orphanet 34 G71.0
MeSH 44 D049288
UMLS 73 C4015184

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C12: An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 12, is also known as muscular dystrophy-dystroglycanopathy, limb-girdle, pomk-related. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 12 is POMK (Protein-O-Mannose Kinase). Affiliated tissues include skeletal muscle, and related phenotypes are hyporeflexia and motor delay

Description from OMIM: 616094

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

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscular dystrophy
neonatal hypotonia
muscle weakness, proximal
gower sign
difficulty climbing stairs
more
Neurologic Peripheral Nervous System:
hyporeflexia

Neurologic Central Nervous System:
delayed motor development
cognitive impairment, mild

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

616094

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 motor delay 32 HP:0001270
3 neonatal hypotonia 32 HP:0001319
4 elevated serum creatine phosphokinase 32 HP:0003236
5 gowers sign 32 HP:0003391
6 difficulty climbing stairs 32 HP:0003551
7 muscular dystrophy 32 HP:0003560
8 cognitive impairment 32 HP:0100543

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

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

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

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

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 12 29 POMK

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

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

41
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

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

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMK NM_032237.4(POMK): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs587777423 GRCh37 Chromosome 8, 42977292: 42977292
2 POMK NM_032237.4(POMK): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs587777423 GRCh38 Chromosome 8, 43122149: 43122149
3 POMK NM_032237.4(POMK): c.905T> A (p.Val302Asp) single nucleotide variant Uncertain significance rs199756983 GRCh38 Chromosome 8, 43122729: 43122729
4 POMK NM_032237.4(POMK): c.905T> A (p.Val302Asp) single nucleotide variant Uncertain significance rs199756983 GRCh37 Chromosome 8, 42977872: 42977872
5 POMK NM_032237.4(POMK): c.114C> T (p.Leu38=) single nucleotide variant Likely benign rs182189714 GRCh37 Chromosome 8, 42958805: 42958805
6 POMK NM_032237.4(POMK): c.114C> T (p.Leu38=) single nucleotide variant Likely benign rs182189714 GRCh38 Chromosome 8, 43103662: 43103662
7 POMK NM_032237.4(POMK): c.624G> C (p.Leu208=) single nucleotide variant Benign rs34040483 GRCh37 Chromosome 8, 42977591: 42977591
8 POMK NM_032237.4(POMK): c.624G> C (p.Leu208=) single nucleotide variant Benign rs34040483 GRCh38 Chromosome 8, 43122448: 43122448
9 POMK NM_032237.4(POMK): c.618C> T (p.Asn206=) single nucleotide variant Benign/Likely benign rs7005111 GRCh37 Chromosome 8, 42977585: 42977585
10 POMK NM_032237.4(POMK): c.618C> T (p.Asn206=) single nucleotide variant Benign/Likely benign rs7005111 GRCh38 Chromosome 8, 43122442: 43122442
11 POMK NM_032237.4(POMK): c.795C> T (p.Asp265=) single nucleotide variant Benign rs36071326 GRCh37 Chromosome 8, 42977762: 42977762
12 POMK NM_032237.4(POMK): c.795C> T (p.Asp265=) single nucleotide variant Benign rs36071326 GRCh38 Chromosome 8, 43122619: 43122619
13 POMK NM_032237.4(POMK): c.886A> G (p.Ile296Val) single nucleotide variant Likely benign rs6990761 GRCh37 Chromosome 8, 42977853: 42977853
14 POMK NM_032237.4(POMK): c.886A> G (p.Ile296Val) single nucleotide variant Likely benign rs6990761 GRCh38 Chromosome 8, 43122710: 43122710
15 POMK NM_032237.4(POMK): c.20A> G (p.Asn7Ser) single nucleotide variant Uncertain significance rs143957574 GRCh37 Chromosome 8, 42958711: 42958711
16 POMK NM_032237.4(POMK): c.20A> G (p.Asn7Ser) single nucleotide variant Uncertain significance rs143957574 GRCh38 Chromosome 8, 43103568: 43103568
17 POMK NM_032237.4(POMK): c.373A> T (p.Met125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146303063 GRCh38 Chromosome 8, 43122197: 43122197
18 POMK NM_032237.4(POMK): c.373A> T (p.Met125Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs146303063 GRCh37 Chromosome 8, 42977340: 42977340
19 POMK NM_032237.4(POMK): c.565A> G (p.Ile189Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149297443 GRCh37 Chromosome 8, 42977532: 42977532
20 POMK NM_032237.4(POMK): c.565A> G (p.Ile189Val) single nucleotide variant Conflicting interpretations of pathogenicity rs149297443 GRCh38 Chromosome 8, 43122389: 43122389
21 POMK NM_032237.4(POMK): c.714C> T (p.Ser238=) single nucleotide variant Benign/Likely benign rs148949414 GRCh37 Chromosome 8, 42977681: 42977681
22 POMK NM_032237.4(POMK): c.714C> T (p.Ser238=) single nucleotide variant Benign/Likely benign rs148949414 GRCh38 Chromosome 8, 43122538: 43122538
23 POMK NM_032237.4(POMK): c.759C> T (p.Phe253=) single nucleotide variant Likely benign rs201232766 GRCh38 Chromosome 8, 43122583: 43122583
24 POMK NM_032237.4(POMK): c.759C> T (p.Phe253=) single nucleotide variant Likely benign rs201232766 GRCh37 Chromosome 8, 42977726: 42977726
25 POMK NC_000008.10: g.(?_42958672)_(42978040_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 42978040
26 POMK NM_032237.4(POMK): c.68T> C (p.Leu23Pro) single nucleotide variant Uncertain significance rs200277006 GRCh37 Chromosome 8, 42958759: 42958759
27 POMK NM_032237.4(POMK): c.68T> C (p.Leu23Pro) single nucleotide variant Uncertain significance rs200277006 GRCh38 Chromosome 8, 43103616: 43103616
28 POMK NM_032237.4(POMK): c.704A> G (p.Asn235Ser) single nucleotide variant Uncertain significance rs200742772 GRCh38 Chromosome 8, 43122528: 43122528
29 POMK NM_032237.4(POMK): c.704A> G (p.Asn235Ser) single nucleotide variant Uncertain significance rs200742772 GRCh37 Chromosome 8, 42977671: 42977671
30 POMK NM_032237.4(POMK): c.902T> C (p.Met301Thr) single nucleotide variant Benign rs33920561 GRCh37 Chromosome 8, 42977869: 42977869
31 POMK NM_032237.4(POMK): c.902T> C (p.Met301Thr) single nucleotide variant Benign rs33920561 GRCh38 Chromosome 8, 43122726: 43122726
32 POMK NM_032237.4(POMK): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs757744253 GRCh37 Chromosome 8, 42977877: 42977877
33 POMK NM_032237.4(POMK): c.910T> C (p.Phe304Leu) single nucleotide variant Uncertain significance rs757744253 GRCh38 Chromosome 8, 43122734: 43122734
34 POMK NM_032237.4(POMK): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs138216719 GRCh37 Chromosome 8, 42977374: 42977374
35 POMK NM_032237.4(POMK): c.407C> T (p.Thr136Met) single nucleotide variant Uncertain significance rs138216719 GRCh38 Chromosome 8, 43122231: 43122231
36 POMK NM_032237.4(POMK): c.1013T> G (p.Leu338Arg) single nucleotide variant Likely benign rs200555259 GRCh37 Chromosome 8, 42977980: 42977980
37 POMK NM_032237.4(POMK): c.1013T> G (p.Leu338Arg) single nucleotide variant Likely benign rs200555259 GRCh38 Chromosome 8, 43122837: 43122837
38 POMK NM_032237.4(POMK): c.142T> C (p.Ser48Pro) single nucleotide variant Likely benign rs34466747 GRCh37 Chromosome 8, 42958833: 42958833
39 POMK NM_032237.4(POMK): c.142T> C (p.Ser48Pro) single nucleotide variant Likely benign rs34466747 GRCh38 Chromosome 8, 43103690: 43103690
40 POMK NM_032237.4(POMK): c.882G> A (p.Gly294=) single nucleotide variant Likely benign rs56282240 GRCh38 Chromosome 8, 43122706: 43122706
41 POMK NM_032237.4(POMK): c.882G> A (p.Gly294=) single nucleotide variant Likely benign rs56282240 GRCh37 Chromosome 8, 42977849: 42977849
42 POMK NM_032237.4(POMK): c.1006G> A (p.Asp336Asn) single nucleotide variant Benign rs113361507 GRCh37 Chromosome 8, 42977973: 42977973
43 POMK NM_032237.4(POMK): c.1006G> A (p.Asp336Asn) single nucleotide variant Benign rs113361507 GRCh38 Chromosome 8, 43122830: 43122830
44 POMK NM_032237.4(POMK): c.254A> G (p.Lys85Arg) single nucleotide variant Uncertain significance rs752925552 GRCh38 Chromosome 8, 43103802: 43103802
45 POMK NM_032237.4(POMK): c.254A> G (p.Lys85Arg) single nucleotide variant Uncertain significance rs752925552 GRCh37 Chromosome 8, 42958945: 42958945
46 POMK NM_032237.4(POMK): c.502A> C (p.Lys168Gln) single nucleotide variant Uncertain significance rs756014333 GRCh37 Chromosome 8, 42977469: 42977469
47 POMK NM_032237.4(POMK): c.502A> C (p.Lys168Gln) single nucleotide variant Uncertain significance rs756014333 GRCh38 Chromosome 8, 43122326: 43122326
48 POMK NM_032237.4(POMK): c.564C> T (p.Ile188=) single nucleotide variant Likely benign rs55724435 GRCh37 Chromosome 8, 42977531: 42977531
49 POMK NM_032237.4(POMK): c.564C> T (p.Ile188=) single nucleotide variant Likely benign rs55724435 GRCh38 Chromosome 8, 43122388: 43122388
50 POMK NM_032237.4(POMK): c.589G> T (p.Val197Leu) single nucleotide variant Uncertain significance rs374943200 GRCh38 Chromosome 8, 43122413: 43122413

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 12.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

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

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

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