MDDGC12
MCID: MSC118
MIFTS: 26

Muscular Dystrophy-Dystroglycanopathy , Type C, 12 (MDDGC12)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 72 29 6 17 70
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomk-Related 57 72
Mddgc12 57 72
Limb-Girdle Muscular Dystrophy Due to Pomk Deficiency 58
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C12 72
Lgmd Due to Pomk Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
limb-girdle muscular dystrophy due to pomk deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 12:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 616094
OMIM Phenotypic Series 57 PS609308
MeSH 44 D049288
ICD10 via Orphanet 33 G71.0
Orphanet 58 ORPHA445110
UMLS 70 C4015184

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

UniProtKB/Swiss-Prot : 72 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 neonatal hypotonia and cognitive impairment

More information from OMIM: 616094 PS609308

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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 Congenital Muscular Dystrophy-Dystroglycanopathy Type a
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 Congenital Muscular Dystrophy-Dystroglycanopathy A14
Congenital Muscular Dystrophy-Dystroglycanopathy A7 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 neonatal hypotonia 31 HP:0001319
2 cognitive impairment 31 HP:0100543
3 elevated serum creatine kinase 31 HP:0003236
4 motor delay 31 HP:0001270
5 hyporeflexia 31 HP:0001265
6 muscular dystrophy 31 HP:0003560
7 gowers sign 31 HP:0003391
8 difficulty climbing stairs 31 HP:0003551

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
neonatal hypotonia
muscular dystrophy
gowers sign
difficulty climbing stairs
muscle weakness, proximal
more
Neurologic Central Nervous System:
delayed motor development
cognitive impairment, mild

Neurologic Peripheral Nervous System:
hyporeflexia

Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM®:

616094 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 12

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 12:

# Title Authors PMID Year
1
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. 6 57
24925318 2014
2
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 6
24556084 2014
3
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. 61
31833209 2020
4
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair. 61
29910097 2018

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 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMK NM_032237.5(POMK):c.325C>T (p.Gln109Ter) SNV Pathogenic 133346 rs587777423 GRCh37: 8:42977292-42977292
GRCh38: 8:43122149-43122149
2 POMK NM_032237.5(POMK):c.238_239del (p.Glu80fs) Deletion Pathogenic 582702 rs1454006905 GRCh37: 8:42958928-42958929
GRCh38: 8:43103785-43103786
3 POMK NM_032237.5(POMK):c.10C>T (p.Gln4Ter) SNV Pathogenic 849427 GRCh37: 8:42958701-42958701
GRCh38: 8:43103558-43103558
4 POMK NM_032237.5(POMK):c.43dup (p.Arg15fs) Duplication Pathogenic 817678 rs749980792 GRCh37: 8:42958728-42958729
GRCh38: 8:43103585-43103586
5 POMK NC_000008.11:g.(?_43103539)_(43103840_?)del Deletion Pathogenic 651249 GRCh37: 8:42958682-42958983
GRCh38: 8:43103539-43103840
6 overlap with 6 genes NC_000008.10:g.(?_42693095)_(42978030_?)dup Duplication Uncertain significance 653514 GRCh37: 8:42693095-42978030
GRCh38: 8:42837952-43122887
7 POMK NC_000008.10:g.(?_42958682)_(42978030_?)dup Duplication Uncertain significance 655750 GRCh37: 8:42958682-42978030
GRCh38: 8:43103539-43122887
8 POMK NM_032237.5(POMK):c.76A>C (p.Ile26Leu) SNV Uncertain significance 661426 rs1586671643 GRCh37: 8:42958767-42958767
GRCh38: 8:43103624-43103624
9 POMK NM_032237.5(POMK):c.265G>A (p.Glu89Lys) SNV Uncertain significance 838680 GRCh37: 8:42958956-42958956
GRCh38: 8:43103813-43103813
10 POMK NM_032237.5(POMK):c.620A>G (p.Asp207Gly) SNV Uncertain significance 843307 GRCh37: 8:42977587-42977587
GRCh38: 8:43122444-43122444
11 POMK NM_032237.5(POMK):c.965C>T (p.Pro322Leu) SNV Uncertain significance 813966 rs747083630 GRCh37: 8:42977932-42977932
GRCh38: 8:43122789-43122789
12 POMK NM_032237.5(POMK):c.136C>T (p.Arg46Ter) SNV Uncertain significance 813967 rs202036744 GRCh37: 8:42958827-42958827
GRCh38: 8:43103684-43103684
13 POMK NM_032237.5(POMK):c.82G>T (p.Ala28Ser) SNV Uncertain significance 1041532 GRCh37: 8:42958773-42958773
GRCh38: 8:43103630-43103630
14 POMK NM_032237.5(POMK):c.796G>A (p.Val266Met) SNV Uncertain significance 1045451 GRCh37: 8:42977763-42977763
GRCh38: 8:43122620-43122620
15 POMK NM_032237.5(POMK):c.3G>C (p.Met1Ile) SNV Uncertain significance 1047054 GRCh37: 8:42958694-42958694
GRCh38: 8:43103551-43103551
16 POMK NM_032237.5(POMK):c.68T>C (p.Leu23Pro) SNV Uncertain significance 474195 rs200277006 GRCh37: 8:42958759-42958759
GRCh38: 8:43103616-43103616
17 POMK NM_032237.5(POMK):c.760G>A (p.Val254Met) SNV Uncertain significance 541241 rs34715198 GRCh37: 8:42977727-42977727
GRCh38: 8:43122584-43122584
18 POMK NM_032237.5(POMK):c.719T>C (p.Met240Thr) SNV Uncertain significance 841233 GRCh37: 8:42977686-42977686
GRCh38: 8:43122543-43122543
19 POMK NM_032237.5(POMK):c.599G>T (p.Arg200Leu) SNV Uncertain significance 845543 GRCh37: 8:42977566-42977566
GRCh38: 8:43122423-43122423
20 POMK NM_032237.5(POMK):c.833A>G (p.Glu278Gly) SNV Uncertain significance 860305 GRCh37: 8:42977800-42977800
GRCh38: 8:43122657-43122657
21 POMK NM_032237.5(POMK):c.773A>G (p.Gln258Arg) SNV Uncertain significance 50611 rs397509386 GRCh37: 8:42977740-42977740
GRCh38: 8:43122597-43122597
22 POMK NM_032237.5(POMK):c.1A>G (p.Met1Val) SNV Uncertain significance 999804 GRCh37: 8:42958692-42958692
GRCh38: 8:43103549-43103549
23 POMK NC_000008.10:g.(?_42958682)_(42978030_?)dup Duplication Uncertain significance 1000562 GRCh37: 8:42958682-42978030
GRCh38:
24 POMK NM_032237.5(POMK):c.121T>G (p.Phe41Val) SNV Uncertain significance 1006660 GRCh37: 8:42958812-42958812
GRCh38: 8:43103669-43103669
25 POMK NM_032237.5(POMK):c.545C>T (p.Ala182Val) SNV Uncertain significance 1009080 GRCh37: 8:42977512-42977512
GRCh38: 8:43122369-43122369
26 POMK NM_032237.5(POMK):c.28A>G (p.Arg10Gly) SNV Uncertain significance 1009402 GRCh37: 8:42958719-42958719
GRCh38: 8:43103576-43103576
27 POMK NM_032237.5(POMK):c.170A>G (p.Tyr57Cys) SNV Uncertain significance 1011886 GRCh37: 8:42958861-42958861
GRCh38: 8:43103718-43103718
28 POMK NM_032237.5(POMK):c.407C>T (p.Thr136Met) SNV Uncertain significance 474191 rs138216719 GRCh37: 8:42977374-42977374
GRCh38: 8:43122231-43122231
29 POMK NM_032237.5(POMK):c.589G>T (p.Val197Leu) SNV Uncertain significance 474194 rs374943200 GRCh37: 8:42977556-42977556
GRCh38: 8:43122413-43122413
30 POMK NM_032237.5(POMK):c.626C>T (p.Pro209Leu) SNV Uncertain significance 541240 rs369093146 GRCh37: 8:42977593-42977593
GRCh38: 8:43122450-43122450
31 POMK NM_032237.5(POMK):c.979G>C (p.Val327Leu) SNV Uncertain significance 940329 GRCh37: 8:42977946-42977946
GRCh38: 8:43122803-43122803
32 POMK NM_032237.5(POMK):c.282+1G>C SNV Uncertain significance 949777 GRCh37: 8:42958974-42958974
GRCh38: 8:43103831-43103831
33 POMK NM_032237.5(POMK):c.827A>G (p.Tyr276Cys) SNV Uncertain significance 957806 GRCh37: 8:42977794-42977794
GRCh38: 8:43122651-43122651
34 POMK NM_032237.5(POMK):c.55C>T (p.Pro19Ser) SNV Uncertain significance 966592 GRCh37: 8:42958746-42958746
GRCh38: 8:43103603-43103603
35 POMK NM_032237.5(POMK):c.661T>C (p.Phe221Leu) SNV Uncertain significance 971345 GRCh37: 8:42977628-42977628
GRCh38: 8:43122485-43122485
36 POMK NM_032237.5(POMK):c.436A>T (p.Thr146Ser) SNV Uncertain significance 1018293 GRCh37: 8:42977403-42977403
GRCh38: 8:43122260-43122260
37 POMK NM_032237.5(POMK):c.74T>C (p.Leu25Pro) SNV Uncertain significance 1021068 GRCh37: 8:42958765-42958765
GRCh38: 8:43103622-43103622
38 POMK NM_032237.5(POMK):c.326A>G (p.Gln109Arg) SNV Uncertain significance 1021659 GRCh37: 8:42977293-42977293
GRCh38: 8:43122150-43122150
39 POMK NM_032237.5(POMK):c.663C>A (p.Phe221Leu) SNV Uncertain significance 1023219 GRCh37: 8:42977630-42977630
GRCh38: 8:43122487-43122487
40 POMK NM_032237.5(POMK):c.910T>C (p.Phe304Leu) SNV Uncertain significance 474199 rs757744253 GRCh37: 8:42977877-42977877
GRCh38: 8:43122734-43122734
41 POMK NM_032237.5(POMK):c.502A>C (p.Lys168Gln) SNV Uncertain significance 474192 rs756014333 GRCh37: 8:42977469-42977469
GRCh38: 8:43122326-43122326
42 POMK NM_032237.5(POMK):c.271G>A (p.Ala91Thr) SNV Uncertain significance 665426 rs1365587547 GRCh37: 8:42958962-42958962
GRCh38: 8:43103819-43103819
43 POMK NM_032237.5(POMK):c.47A>G (p.Glu16Gly) SNV Uncertain significance 851474 GRCh37: 8:42958738-42958738
GRCh38: 8:43103595-43103595
44 POMK NM_032237.5(POMK):c.457C>T (p.Pro153Ser) SNV Uncertain significance 857754 GRCh37: 8:42977424-42977424
GRCh38: 8:43122281-43122281
45 POMK NM_032237.5(POMK):c.168C>G (p.Pro56=) SNV Uncertain significance 863624 GRCh37: 8:42958859-42958859
GRCh38: 8:43103716-43103716
46 POMK NM_032237.5(POMK):c.619G>A (p.Asp207Asn) SNV Uncertain significance 863774 GRCh37: 8:42977586-42977586
GRCh38: 8:43122443-43122443
47 POMK NM_032237.5(POMK):c.701T>C (p.Val234Ala) SNV Uncertain significance 944279 GRCh37: 8:42977668-42977668
GRCh38: 8:43122525-43122525
48 POMK NM_032237.5(POMK):c.859G>C (p.Asp287His) SNV Uncertain significance 944706 GRCh37: 8:42977826-42977826
GRCh38: 8:43122683-43122683
49 POMK NM_032237.5(POMK):c.874C>T (p.Leu292Phe) SNV Uncertain significance 947914 GRCh37: 8:42977841-42977841
GRCh38: 8:43122698-43122698
50 POMK NM_032237.5(POMK):c.657C>A (p.Ser219Arg) SNV Uncertain significance 949145 GRCh37: 8:42977624-42977624
GRCh38: 8:43122481-43122481

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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