Muscular Dystrophy-Dystroglycanopathy , Type B, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MDDGB1 MCID: MSC048 MIFTS: 33	Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 1 ⁵⁷ ⁷² ¹³ ⁶ ⁷⁰

Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 ²⁹ ⁶

Mddgb1 ⁵⁷ ⁷²

Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B1 ⁷²

Muscular Dystrophy, Congenital, Pomt1-Related ⁵⁷

Muscular Dystrophy Congenital Pomt1-Related ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient with normal cognition has been reported

HPO:

³¹

muscular dystrophy-dystroglycanopathy , type b, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Muscle diseases Mental diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613155

OMIM Phenotypic Series ⁵⁷ PS613155

MeSH ⁴⁴ D009136

MedGen ⁴¹ C3150415

UMLS ⁷⁰ C3150415

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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

OMIM® : ⁵⁷ Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without impaired intellectual development (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). (613155) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1, is related to muscular dystrophy-dystroglycanopathy , type b, 5 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye, and related phenotypes are myopia and cardiomyopathy

UniProtKB/Swiss-Prot : ⁷² Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

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Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	muscular dystrophy-dystroglycanopathy , type b, 5	10.9
2	muscular dystrophy-dystroglycanopathy , type b, 6	10.9
3	muscular dystrophy-dystroglycanopathy , type c, 1	10.9
4	muscular dystrophy-dystroglycanopathy , type b, 3	10.9
5	muscular dystrophy-dystroglycanopathy , type b, 4	10.9
6	muscular dystrophy-dystroglycanopathy , type b, 2	10.9
7	muscular dystrophy-dystroglycanopathy , type b, 14	10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

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Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

³¹ (show all 20)

#	Description	HPO Frequency	HPO Source Accession
1	myopia ³¹	occasional (7.5%)	HP:0000545
2	cardiomyopathy ³¹	occasional (7.5%)	HP:0001638
3	retinal dystrophy ³¹	occasional (7.5%)	HP:0000556
4	developmental cataract ³¹	occasional (7.5%)	HP:0000519
5	facial palsy ³¹		HP:0010628
6	macroglossia ³¹		HP:0000158
7	global developmental delay ³¹		HP:0001263
8	microcephaly ³¹		HP:0000252
9	flexion contracture ³¹		HP:0001371
10	intellectual disability, severe ³¹		HP:0010864
11	absent speech ³¹		HP:0001344
12	elevated serum creatine kinase ³¹		HP:0003236
13	cerebellar hypoplasia ³¹		HP:0001321
14	hypoplasia of the corpus callosum ³¹		HP:0002079
15	muscular dystrophy ³¹		HP:0003560
16	congenital muscular dystrophy ³¹		HP:0003741
17	inability to walk ³¹		HP:0002540
18	enlarged cisterna magna ³¹		HP:0002280
19	cerebellar dysplasia ³¹		HP:0007033
20	abnormal left ventricular function ³¹		HP:0005162

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Mouth:
macroglossia

Neurologic Central Nervous System:
cerebellar hypoplasia
enlarged cisterna magna
cerebellar dysplasia
mental retardation, severe
delayed psychomotor development
more

Skeletal:
joint contractures

Head And Neck Face:
facial weakness

Cardiovascular Heart:
cardiomyopathy (reported in 1 patient)
left ventricular dysfunction (reported in 1 patient)

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
inability to walk
muscle biopsy shows dystrophic changes
hypotonia at birth
muscle pseudohypertrophy
decreased glycosylation of alpha-dystroglycan (dag1, )

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
retinal dystrophy (reported in 1 patient)
myopia (less common)
congenital cataracts (reported in 1 patient)

Clinical features from OMIM®:

613155 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

facial paresis

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Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

#	Genetic test	Affiliating Genes
1	Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 ²⁹	POMT1

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

⁴⁰

Brain, Eye

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

(show all 22)

#	Title	Authors	PMID	Year
1	Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. ⁵⁷ ⁶	Bello L...Pegoraro E	22549409	2012
2	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁶ ⁵⁷	Mercuri E...Bertini E	19299310	2009
3	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ⁶ ⁵⁷	Godfrey C...Muntoni F	17878207	2007
4	The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. ⁶ ⁵⁷	van Reeuwijk J...van Bokhoven H	16575835	2006
5	Expanding the clinical spectrum of POMT1 phenotype. ⁵⁷ ⁶	D'Amico A...Bertini E	16717220	2006
6	Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. ⁵⁷ ⁶	Villanova M...Muntoni F	11053679	2000
7	Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. ⁶	Yang H...Xiong H	27193224	2016
8	A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. ⁶	Tanaka T...Litofsky NS	28116189	2016
9	A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. ⁶	Wallace SE...Gospe SM	24491487	2014
10	Detection limit of intragenic deletions with targeted array comparative genomic hybridization. ⁶	Askree SH...Hegde M	24304607	2013
11	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ⁶	Willer T...Campbell KP	22522420	2012
12	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. ⁶	Devisme L...Encha-Razavi F	22323514	2012
13	POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. ⁶	Endo T...Guicheney P	20816175	2010
14	Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. ⁶	Manzini MC...Walsh CA	18752264	2008
15	Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. ⁶	Manya H...Guicheney P	17869517	2008
16	Molecular heterogeneity in fetal forms of type II lissencephaly. ⁶	Bouchet C...Seta N	17559086	2007
17	An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. ⁵⁷	Balci B...Topaloglu H	15792865	2005
18	Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. ⁶	Currier SC...Walsh CA	15637732	2005
19	Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. ⁶	Beltran-Valero de Bernabe D...Brunner HG	12369018	2002
20	Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. ⁵⁷	Lattanzi G...Marmiroli S	11062006	2000
21	Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings. ⁵⁷	Topaloglu H...Guicheney P	9631397	1998
22	Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system. ⁵⁷	De Stefano N...Federico A	8879654	1996

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶	17878207 16575835 12369018 (more) 24491487 22323514 24304607 17559086 22522420 22549409 20816175 16717220 17869517 28116189 11053679 18752264 15637732 19299310 27193224

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

⁶ (show top 50) (show all 229)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POMT1	POMT1, ARG541TER	Variation	Pathogenic	3248		GRCh37: GRCh38:
2	POMT1	POMT1, GLN590HIS	Variation	Pathogenic	3249		GRCh37: GRCh38:
3	POMT1	NM_001077365.2(POMT1):c.1680G>C (p.Trp560Cys)	SNV	Pathogenic	3242	rs119462984	GRCh37: 9:134395562-134395562 GRCh38: 9:131520175-131520175
4	POMT1	NM_001077365.2(POMT1):c.193G>A (p.Gly65Arg)	SNV	Pathogenic	3244	rs119462983	GRCh37: 9:134381571-134381571 GRCh38: 9:131506184-131506184
5	POMT1	NM_001077365.2(POMT1):c.1175+1G>A	SNV	Pathogenic	3251	rs1051679985	GRCh37: 9:134388719-134388719 GRCh38: 9:131513332-131513332
6	POMT1	NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)	SNV	Pathogenic	471374	rs1554780670	GRCh37: 9:134393920-134393920 GRCh38: 9:131518533-131518533
7	POMT1	NM_001077365.2(POMT1):c.606del (p.Ile203fs)	Deletion	Pathogenic	638831	rs1588375386	GRCh37: 9:134385290-134385290 GRCh38: 9:131509903-131509903
8	POMT1	NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	Deletion	Pathogenic	594265	rs1564364615	GRCh37: 9:134390832-134390833 GRCh38: 9:131515445-131515446
9	POMT1	NM_001077365.2(POMT1):c.443C>A (p.Thr148Asn)	SNV	Pathogenic	562183	rs1564341846	GRCh37: 9:134384313-134384313 GRCh38: 9:131508926-131508926
10	POMT1	NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)	Duplication	Pathogenic	655295	rs1315540509	GRCh37: 9:134397437-134397438 GRCh38: 9:131522050-131522051
11	POMT1	NM_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)	SNV	Pathogenic	658622	rs1588391612	GRCh37: 9:134386846-134386846 GRCh38: 9:131511459-131511459
12	POMT1	NM_001077365.2(POMT1):c.1671del (p.Ile557fs)	Deletion	Pathogenic	848752		GRCh37: 9:134395552-134395552 GRCh38: 9:131520165-131520165
13	POMT1	NM_001077365.2(POMT1):c.414del (p.Leu138_Leu139insTer)	Deletion	Pathogenic	864585		GRCh37: 9:134382888-134382888 GRCh38: 9:131507501-131507501
14	POMT1	NM_001077365.2(POMT1):c.1457G>A (p.Trp486Ter)	SNV	Pathogenic	936444		GRCh37: 9:134394315-134394315 GRCh38: 9:131518928-131518928
15	POMT1	NM_001077365.2(POMT1):c.1091del (p.Leu364fs)	Deletion	Pathogenic	933596		GRCh37: 9:134388634-134388634 GRCh38: 9:131513247-131513247
16	POMT1	NM_001077365.2(POMT1):c.264G>A (p.Trp88Ter)	SNV	Pathogenic	956205		GRCh37: 9:134381824-134381824 GRCh38: 9:131506437-131506437
17	POMT1	NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)	SNV	Pathogenic	488581	rs777437871	GRCh37: 9:134397529-134397529 GRCh38: 9:131522142-131522142
18	POMT1	NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter)	SNV	Pathogenic	3245	rs119462985	GRCh37: 9:134394332-134394332 GRCh38: 9:131518945-131518945
19	POMT1	NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV	Pathogenic	3250	rs119462987	GRCh37: 9:134397547-134397547 GRCh38: 9:131522160-131522160
20	POMT1	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	SNV	Pathogenic	95452	rs200056620	GRCh37: 9:134388630-134388630 GRCh38: 9:131513243-131513243
21	POMT1	NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	SNV	Pathogenic	95452	rs200056620	GRCh37: 9:134388630-134388630 GRCh38: 9:131513243-131513243
22	POMT1	NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr)	SNV	Pathogenic	3250	rs119462987	GRCh37: 9:134397547-134397547 GRCh38: 9:131522160-131522160
23	POMT1	NM_001077365.2(POMT1):c.990T>A (p.Tyr330Ter)	SNV	Pathogenic	502224	rs765230689	GRCh37: 9:134387431-134387431 GRCh38: 9:131512044-131512044
24	POMT1	NM_001077365.2(POMT1):c.699+62del	Deletion	Pathogenic	538723	rs1356791510	GRCh37: 9:134385445-134385445 GRCh38: 9:131510058-131510058
25	POMT1	NM_001077365.2(POMT1):c.605+1G>C	SNV	Pathogenic	538720	rs766648827	GRCh37: 9:134385196-134385196 GRCh38: 9:131509809-131509809
26	POMT1	NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	SNV	Pathogenic	194859	rs794727208	GRCh37: 9:134396832-134396832 GRCh38: 9:131521445-131521445
27	POMT1	NM_001077365.2(POMT1):c.1704G>C (p.Gln568His)	SNV	Pathogenic	3246	rs119462986	GRCh37: 9:134396738-134396738 GRCh38: 9:131521351-131521351
28	POMT1	NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	Duplication	Pathogenic	3255	rs398124245	GRCh37: 9:134398412-134398413 GRCh38: 9:131523025-131523026
29	POMT1	NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs)	Microsatellite	Pathogenic	3252	rs587777819	GRCh37: 9:134398425-134398426 GRCh38: 9:131523038-131523039
30	POMT1	NM_001077365.2(POMT1):c.579_580del (p.Val195fs)	Deletion	Likely pathogenic	817606	rs1032439203	GRCh37: 9:134385169-134385170 GRCh38: 9:131509782-131509783
31	POMT1	NM_001077365.2(POMT1):c.598G>C (p.Ala200Pro)	SNV	Likely pathogenic	3243	rs119462982	GRCh37: 9:134385188-134385188 GRCh38: 9:131509801-131509801
32	POMT1	NM_001077365.2(POMT1):c.174_176CTT[2] (p.Phe60del)	Microsatellite	Likely pathogenic	431953	rs750195040	GRCh37: 9:134381551-134381553 GRCh38: 9:131506164-131506166
33	POMT1	NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)	SNV	Likely pathogenic	194962	rs149682171	GRCh37: 9:134397500-134397500 GRCh38: 9:131522113-131522113
34	POMT1	NM_001077365.2(POMT1):c.1699-1G>A	SNV	Likely pathogenic	946669		GRCh37: 9:134396732-134396732 GRCh38: 9:131521345-131521345
35	POMT1	NM_001077365.2(POMT1):c.229+2T>C	SNV	Likely pathogenic	953462		GRCh37: 9:134381609-134381609 GRCh38: 9:131506222-131506222
36	POMT1	NM_001077365.2(POMT1):c.1698+1G>A	SNV	Likely pathogenic	631540	rs763586263	GRCh37: 9:134395581-134395581 GRCh38: 9:131520194-131520194
37	POMT1	NM_001077365.2(POMT1):c.1272+2T>C	SNV	Likely pathogenic	580081	rs1564365317	GRCh37: 9:134390911-134390911 GRCh38: 9:131515524-131515524
38	POMT1	NM_001077365.2(POMT1):c.987-2A>C	SNV	Likely pathogenic	580822	rs1453773610	GRCh37: 9:134387426-134387426 GRCh38: 9:131512039-131512039
39	POMT1	NM_001077365.2(POMT1):c.2083C>T (p.Arg695Cys)	SNV	Uncertain significance	581492	rs200179598	GRCh37: 9:134398398-134398398 GRCh38: 9:131523011-131523011
40	POMT1	NM_001077365.2(POMT1):c.2090T>A (p.Leu697His)	SNV	Uncertain significance	581594	rs753872714	GRCh37: 9:134398405-134398405 GRCh38: 9:131523018-131523018
41	POMT1	NM_001077365.2(POMT1):c.1349C>A (p.Thr450Asn)	SNV	Uncertain significance	640202	rs757785909	GRCh37: 9:134393908-134393908 GRCh38: 9:131518521-131518521
42	POMT1	NM_001077365.2(POMT1):c.928G>A (p.Val310Ile)	SNV	Uncertain significance	497676	rs190112934	GRCh37: 9:134386796-134386796 GRCh38: 9:131511409-131511409
43	POMT1	NM_001077365.2(POMT1):c.1735G>C (p.Val579Leu)	SNV	Uncertain significance	644158	rs1588494128	GRCh37: 9:134396769-134396769 GRCh38: 9:131521382-131521382
44	POMT1	NM_001077365.2(POMT1):c.2138G>A (p.Arg713His)	SNV	Uncertain significance	538718	rs938573554	GRCh37: 9:134398453-134398453 GRCh38: 9:131523066-131523066
45	POMT1	NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala)	SNV	Uncertain significance	260143	rs144338642	GRCh37: 9:134396761-134396761 GRCh38: 9:131521374-131521374
46	POMT1	NM_001077365.2(POMT1):c.1540G>A (p.Val514Ile)	SNV	Uncertain significance	568485	rs984288781	GRCh37: 9:134394829-134394829 GRCh38: 9:131519442-131519442
47	POMT1	NM_001077365.2(POMT1):c.2084G>A (p.Arg695His)	SNV	Uncertain significance	568812	rs373402995	GRCh37: 9:134398399-134398399 GRCh38: 9:131523012-131523012
48	POMT1	NM_001077365.2(POMT1):c.401T>C (p.Met134Thr)	SNV	Uncertain significance	574156	rs780170650	GRCh37: 9:134382875-134382875 GRCh38: 9:131507488-131507488
49	POMT1	NM_001077365.2(POMT1):c.2003+4C>T	SNV	Uncertain significance	285700	rs766635497	GRCh37: 9:134397615-134397615 GRCh38: 9:131522228-131522228
50	POMT1	NM_001077365.2(POMT1):c.1555A>G (p.Ser519Gly)	SNV	Uncertain significance	575648	rs1564381465	GRCh37: 9:134394844-134394844 GRCh38: 9:131519457-131519457

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	POMT1	p.Gly65Arg	VAR_065027	rs119462983
2	POMT1	p.Trp582Cys	VAR_065034	rs119462984
3	POMT1	p.Gln590His	VAR_065035	rs119462986
4	POMT1	p.Ala669Thr	VAR_065036	rs119462987

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 1.

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

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Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (1 elite genes):

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1