Muscular Dystrophy-Dystroglycanopathy , Type a, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MDDGA3 MCID: MSC045 MIFTS: 38	Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (MDDGA3) 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 a, 3

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 3 ⁵⁷ ⁷² ¹³ ⁶ ⁷⁰

Muscular Dystrophy-Dystroglycanopathy , Type A3 ²⁹ ⁶

Mddga3 ⁵⁷ ⁷²

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 ⁷²

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Pomgnt1-Related ⁵⁷

Dystrophy, Muscular, Dystroglycanopathy , Type A3 ³⁹

Muscle-Eye-Brain Disease Pomgnt1-Related ⁷²

Walker-Warburg Syndrome Pomgnt1-Related ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
genetic heterogeneity
onset prenatally or at birth
severe disorder
majority of wws patients die within the first year of life
patients with meb have less severe features and longer survival
patients with meb may acquire ability to walk and a few words
two patients with a wws phenotype have been reported

HPO:

³¹

muscular dystrophy-dystroglycanopathy , type a, 3:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 253280

OMIM Phenotypic Series ⁵⁷ PS236670

MeSH ⁴⁴ D058494

MedGen ⁴¹ C0457133 C3151519

UMLS ⁷⁰ C3151519

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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

OMIM® : ⁵⁷ Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (253280) (Updated 05-Apr-2021)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 3, also known as muscular dystrophy-dystroglycanopathy , type a3, is related to congenital muscular dystrophy-dystroglycanopathy type a3 and muscle eye brain disease, and has symptoms including seizures An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 3 is POMGNT1 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)). Affiliated tissues include eye, brain and retina, and related phenotypes are spasticity and eeg abnormality

UniProtKB/Swiss-Prot : ⁷² Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, mental retardation, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.

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Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)

#	Related Disease	Score	Top Affiliating Genes
1	congenital muscular dystrophy-dystroglycanopathy type a3	31.1	TSPAN1 POMGNT1
2	muscle eye brain disease	30.9	TSPAN1 POMGNT1
3	muscular dystrophy-dystroglycanopathy	30.0	TSPAN1 POMGNT1
4	muscular dystrophy	30.0	TSPAN1 POMGNT1
5	walker-warburg syndrome	29.6	TSPAN1 POMGNT1
6	muscular dystrophy, congenital, lmna-related	10.3
7	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.3
8	lissencephaly	10.3
9	autosomal recessive disease	10.3
10	myopia	10.3
11	polymicrogyria	10.3
12	congenital muscular dystrophy due to dystroglycanopathy	10.3
13	qualitative or quantitative defects of alpha-dystroglycan	10.3
14	retinitis pigmentosa 76	9.8	TSPAN1 POMGNT1
15	congenital muscular dystrophy-dystroglycanopathy type a	9.8	TSPAN1 POMGNT1
16	cobblestone lissencephaly	9.7	TSPAN1 POMGNT1
17	muscular dystrophy-dystroglycanopathy , type c, 3	9.7	TSPAN1 POMGNT1
18	muscular dystrophy-dystroglycanopathy , type b, 3	9.6	TSPAN1 POMGNT1
19	autosomal recessive limb-girdle muscular dystrophy	9.6	TSPAN1 POMGNT1

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

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Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

³¹ (show all 49)

#	Description	HPO Source Accession
1	spasticity ³¹	HP:0001257
2	eeg abnormality ³¹	HP:0002353
3	nystagmus ³¹	HP:0000639
4	hydrocephalus ³¹	HP:0000238
5	muscle weakness ³¹	HP:0001324
6	cataract ³¹	HP:0000518
7	microcephaly ³¹	HP:0000252
8	optic atrophy ³¹	HP:0000648
9	intellectual disability, severe ³¹	HP:0010864
10	opacification of the corneal stroma ³¹	HP:0007759
11	myoclonus ³¹	HP:0001336
12	everted lower lip vermilion ³¹	HP:0000232
13	strabismus ³¹	HP:0000486
14	micrognathia ³¹	HP:0000347
15	myopia ³¹	HP:0000545
16	pallor ³¹	HP:0000980
17	elevated serum creatine kinase ³¹	HP:0003236
18	glaucoma ³¹	HP:0000501
19	microphthalmia ³¹	HP:0000568
20	buphthalmos ³¹	HP:0000557
21	ventriculomegaly ³¹	HP:0002119
22	malar flattening ³¹	HP:0000272
23	megalocornea ³¹	HP:0000485
24	severe global developmental delay ³¹	HP:0011344
25	midface retrusion ³¹	HP:0011800
26	polymicrogyria ³¹	HP:0002126
27	severe muscular hypotonia ³¹	HP:0006829
28	cerebellar hypoplasia ³¹	HP:0001321
29	aplasia/hypoplasia of the corpus callosum ³¹	HP:0007370
30	pachygyria ³¹	HP:0001302
31	muscular dystrophy ³¹	HP:0003560
32	generalized muscle weakness ³¹	HP:0003324
33	intellectual disability, profound ³¹	HP:0002187
34	retinal degeneration ³¹	HP:0000546
35	generalized hypotonia ³¹	HP:0001290
36	coloboma ³¹	HP:0000589
37	retinal dysplasia ³¹	HP:0007973
38	type ii lissencephaly ³¹	HP:0007260
39	cerebellar dysplasia ³¹	HP:0007033
40	hypoplasia of the brainstem ³¹	HP:0002365
41	cerebellar cyst ³¹	HP:0002350
42	retinal atrophy ³¹	HP:0001105
43	short nasal bridge ³¹	HP:0003194
44	uncontrolled eye movements ³¹	HP:0007738
45	decreased light- and dark-adapted electroretinogram amplitude ³¹	HP:0000654
46	seizure ³¹	HP:0001250
47	undetectable electroretinogram ³¹	HP:0000550
48	hypoplasia of the retina ³¹	HP:0007770
49	enlarged flash visual evoked potentials ³¹	HP:0008045

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Neurologic Central Nervous System:
seizures
hydrocephalus
polymicrogyria
cerebellar hypoplasia
pachygyria
more

Head And Neck Head:
microcephaly

Head And Neck Nose:
short nasal bridge

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
nystagmus
strabismus
myopia
glaucoma
microphthalmia
more

Muscle Soft Tissue:
muscular dystrophy
hypotonia, severe
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )

Head And Neck Face:
midface hypoplasia
micrognathia, mild

Head And Neck Mouth:
everted lower lip

Clinical features from OMIM®:

253280 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

seizures

GenomeRNAi Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Downregulation of Wnt pathway after Wnt3A stimulation	GR00057-A-2	8.62	POMGNT1 TSPAN1

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Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

#	Genetic test	Affiliating Genes
1	Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A3 ²⁹	POMGNT1

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

⁴⁰

Eye, Brain, Retina, Pons

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

(show all 39)

#	Title	Authors	PMID	Year
1	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁶ ⁵⁷	Mercuri E...Bertini E	19299310	2009
2	Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. ⁶ ⁵⁷	Clement E...Muntoni F	19067344	2008
3	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ⁶ ⁵⁷	Godfrey C...Muntoni F	17878207	2007
4	POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. ⁵⁷ ⁶	Biancheri R...Bruno C	17030669	2006
5	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ⁶ ⁵⁷	Diesen C...Lehesjoki AE	15466003	2004
6	POMGnT1 gene alterations in a family with neurological abnormalities. ⁵⁷ ⁶	Vervoort VS...Srivastava AK	15236414	2004
7	Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. ⁶ ⁵⁷	Taniguchi K...Toda T	12588800	2003
8	Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ⁵⁷ ⁶	Yoshida A...Endo T	11709191	2001
9	Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. ⁶	Borisovna KO...Vladimirovich IV	30961548	2019
10	Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. ⁶	Sframeli M...Muntoni F	28688748	2017
11	Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. ⁶	Kuwabara N...Kato R	27493216	2016
12	RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. ⁶	Xiong HY...Frey BJ	25525159	2015
13	Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. ⁶	Yis U...Kurul SH	24731844	2014
14	Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. ⁶	Jiao H...Xiong H	23689641	2013
15	Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology. ⁶	Lim BC...Chae JH	23453855	2013
16	Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. ⁶	Valencia CA...Hegde M	23326386	2013
17	Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ⁶	Saredi S...Mora M	22554691	2012
18	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ⁶	Willer T...Campbell KP	22522420	2012
19	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. ⁶	Devisme L...Encha-Razavi F	22323514	2012
20	Novel retinal findings in an infant with muscle-eye-brain disease. ⁶	Khan M...Recchia FM	25390965	2012
21	Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ⁶	Voglmeir J...Flitsch SL	21361872	2011
22	Muscle-Eye-Brain disease. ⁶	Shenoy AM...Tseng BS	20215985	2010
23	An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. ⁶	Demir E...Comi GP	19679478	2009
24	Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. ⁶	Oliveira J...Santos R	18330676	2008
25	Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ⁶	Hehr U...Winkler J	17906881	2007
26	Molecular heterogeneity in fetal forms of type II lissencephaly. ⁶	Bouchet C...Seta N	17559086	2007
27	Prenatal diagnosis of muscle-eye-brain disease. ⁶	Balci B...Dincer P	17154333	2007
28	Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. ⁶	Vajsar J...Schachter H	16427280	2006
29	Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. ⁶	Zhang W...Schachter H	12849864	2003
30	Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. ⁶	Manya H...Endo T	12788071	2003
31	Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. ⁵⁷	Michele DE...Campbell KP	12140558	2002
32	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ⁵⁷	Cormand B...Lehesjoki AE	11320179	2001
33	Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ⁵⁷	Cormand B...Lehesjoki AE	9915951	1999
34	Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. ⁵⁷	Leyten QH...Mullaart RA	1491751	1992
35	Muscle-eye-brain disease and Walker-Warburg syndrome. ⁵⁷	Santavuori P...Leisti J	2363444	1990
36	Muscle-eye-brain disease (MEB) ⁵⁷	Santavuori P...Leisti J	2751061	1989
37	Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. ⁵⁷	Raitta C...Leisti J	581135	1978
38	Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). ⁶¹	Arvio M...Lahdetie J	31580529	2019
39	Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ⁶¹	Peiris TJ...Hunter DG	29555514	2018

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POMGNT1	Protein O-Linked Mannose N-Acetylglucosaminyltransferase 1 (Beta 1,2-)	Protein Coding	1325	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶	22323514 23326386 18330676 (more) 17559086 28688748 17906881 25390965 15236414 21361872 17030669 22554691 12588800 19299310 25525159 11709191 24731844 17878207 15466003 19067344 20215985 12849864 17154333 23689641 19679478 23453855 12788071 27493216 22522420 16427280
2	TSPAN1	Tetraspanin 1	Protein Coding	425	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Likely pathogenic ⁶	22323514 23326386 18330676 (more) 17559086 17906881 25390965 15236414 21361872 17030669 22554691 25525159 11709191 24731844 17878207 12588800 15466003 19067344 20215985 12849864 17154333 23689641 19679478 19299310 23453855 12788071 27493216 22522420 16427280

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

⁶ (show top 50) (show all 177)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POMGNT1 , TSPAN1	NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs)	Microsatellite	Pathogenic	56581	rs386834015	GRCh37: 1:46658039-46658043 GRCh38: 1:46192367-46192371
2	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1539+1G>T	SNV	Pathogenic	56583	rs138642840	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
3	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1413+1G>T	SNV	Pathogenic	3986	rs587777821	GRCh37: 1:46657979-46657979 GRCh38: 1:46192307-46192307
4	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1413+1G>A	SNV	Pathogenic	3987	rs587777821	GRCh37: 1:46657979-46657979 GRCh38: 1:46192307-46192307
5	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg)	SNV	Pathogenic	3990	rs28942068	GRCh37: 1:46657831-46657831 GRCh38: 1:46192159-46192159
6	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1832del (p.Leu611fs)	Deletion	Pathogenic	3995	rs587777822	GRCh37: 1:46655193-46655193 GRCh38: 1:46189521-46189521
7	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter)	SNV	Pathogenic	3996	rs267606961	GRCh37: 1:46657884-46657884 GRCh38: 1:46192212-46192212
8	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn)	SNV	Pathogenic	3988	rs193919335	GRCh37: 1:46656145-46656145 GRCh38: 1:46190473-46190473
9	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1719del (p.His573fs)	Deletion	Pathogenic	3989	rs386834017	GRCh37: 1:46655592-46655592 GRCh38: 1:46189920-46189920
10	POMGNT1 , TSPAN1	NM_001243766.1(POMGNT1):c.1869+7del	Deletion	Pathogenic	56591	rs386834022	GRCh37: 1:46655149-46655149 GRCh38: 1:46189477-46189477
11	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln)	SNV	Pathogenic	3993	rs193919336	GRCh37: 1:46659545-46659545 GRCh38: 1:46193873-46193873
12	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter)	SNV	Pathogenic	551169	rs1048865247	GRCh37: 1:46661559-46661559 GRCh38: 1:46195887-46195887
13	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1413+1G>C	SNV	Pathogenic	211939	rs587777821	GRCh37: 1:46657979-46657979 GRCh38: 1:46192307-46192307
14	POMGNT1	NM_001290130.1(POMGNT1):c.-243C>T	SNV	Pathogenic	3994	rs193919337	GRCh37: 1:46662690-46662690 GRCh38: 1:46197018-46197018
15	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV	Pathogenic	3992	rs28940869	GRCh37: 1:46658069-46658069 GRCh38: 1:46192397-46192397
16	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV	Pathogenic	3992	rs28940869	GRCh37: 1:46658069-46658069 GRCh38: 1:46192397-46192397
17	POMGNT1	NM_017739.4(POMGNT1):c.304G>T (p.Glu102Ter)	SNV	Pathogenic	984973		GRCh37: 1:46662453-46662453 GRCh38: 1:46196781-46196781
18	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1539+1G>A	SNV	Pathogenic	56582	rs138642840	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
19	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV	Pathogenic	4000	rs267606960	GRCh37: 1:46657840-46657840 GRCh38: 1:46192168-46192168
20	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>T	SNV	Pathogenic	56593	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
21	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter)	SNV	Pathogenic/Likely pathogenic	56610	rs386834039	GRCh37: 1:46659546-46659546 GRCh38: 1:46193874-46193874
22	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.636C>T (p.Phe212=)	SNV	Pathogenic/Likely pathogenic	265399	rs190057175	GRCh37: 1:46660532-46660532 GRCh38: 1:46194860-46194860
23	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>T	SNV	Pathogenic/Likely pathogenic	56593	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
24	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr)	SNV	Likely pathogenic	4000	rs267606960	GRCh37: 1:46657840-46657840 GRCh38: 1:46192168-46192168
25	POMGNT1 , TSPAN1	NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs)	Microsatellite	Likely pathogenic	550363	rs1553163360	GRCh37: 1:46658982-46658983 GRCh38: 1:46193310-46193311
26	POMGNT1 , TSPAN1	NM_017739.4(POMGNT1):c.1814G>A	SNV	Likely pathogenic	56589	rs267606962	GRCh37: 1:46655211-46655211 GRCh38: 1:46189539-46189539
27	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter)	SNV	Likely pathogenic	56604	rs386834034	GRCh37: 1:46660525-46660525 GRCh38: 1:46194853-46194853
28	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1285-2A>G	SNV	Likely pathogenic	56578	rs386834012	GRCh37: 1:46658110-46658110 GRCh38: 1:46192438-46192438
29	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>A	SNV	Likely pathogenic	56592	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
30	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1268C>T (p.Ser423Phe)	SNV	Likely pathogenic	801486	rs1571655768	GRCh37: 1:46658206-46658206 GRCh38: 1:46192534-46192534
31	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1152+2T>C	SNV	Likely pathogenic	558053	rs1553163335	GRCh37: 1:46658844-46658844 GRCh38: 1:46193172-46193172
32	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.652+1G>T	SNV	Likely pathogenic	642934	rs386834035	GRCh37: 1:46660515-46660515 GRCh38: 1:46194843-46194843
33	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.653-2A>C	SNV	Likely pathogenic	551232	rs1553163721	GRCh37: 1:46660325-46660325 GRCh38: 1:46194653-46194653
34	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.880-1G>A	SNV	Likely pathogenic	552342	rs1317832573	GRCh37: 1:46659598-46659598 GRCh38: 1:46193926-46193926
35	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1786-1G>A	SNV	Likely pathogenic	552405	rs1457667479	GRCh37: 1:46655240-46655240 GRCh38: 1:46189568-46189568
36	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter)	SNV	Likely pathogenic	552466	rs1553162663	GRCh37: 1:46655173-46655173 GRCh38: 1:46189501-46189501
37	POMGNT1	NM_001290130.1(POMGNT1):c.-197_-196del	Deletion	Likely pathogenic	552921	rs1553164129	GRCh37: 1:46662643-46662644 GRCh38: 1:46196971-46196972
38	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1604+1G>A	SNV	Likely pathogenic	553006	rs1553162873	GRCh37: 1:46656391-46656391 GRCh38: 1:46190719-46190719
39	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln)	SNV	Likely pathogenic	3993	rs193919336	GRCh37: 1:46659545-46659545 GRCh38: 1:46193873-46193873
40	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser)	SNV	Likely pathogenic	56577	rs386834011	GRCh37: 1:46658200-46658200 GRCh38: 1:46192528-46192528
41	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg)	SNV	Likely pathogenic	56579	rs386834013	GRCh37: 1:46658074-46658074 GRCh38: 1:46192402-46192402
42	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg)	SNV	Likely pathogenic	56580	rs386834014	GRCh37: 1:46658051-46658051 GRCh38: 1:46192379-46192379
43	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1539+1del	Deletion	Likely pathogenic	550664	rs1553163077	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
44	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1212-1G>C	SNV	Likely pathogenic	550784	rs1553163254	GRCh37: 1:46658263-46658263 GRCh38: 1:46192591-46192591
45	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1604+2T>C	SNV	Likely pathogenic	550917	rs1553162872	GRCh37: 1:46656390-46656390 GRCh38: 1:46190718-46190718
46	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1649+2T>G	SNV	Likely pathogenic	553347	rs1268759044	GRCh37: 1:46656143-46656143 GRCh38: 1:46190471-46190471
47	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1605-1G>C	SNV	Likely pathogenic	554879	rs770219373	GRCh37: 1:46656190-46656190 GRCh38: 1:46190518-46190518
48	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro)	SNV	Likely pathogenic	3998	rs267606962	GRCh37: 1:46655211-46655211 GRCh38: 1:46189539-46189539
49	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1905del (p.Lys635fs)	Deletion	Likely pathogenic	556807	rs1553162601	GRCh37: 1:46655020-46655020 GRCh38: 1:46189348-46189348
50	POMGNT1 , TSPAN1	NM_017739.3(POMGNT1):c.1895+1G>C	SNV	Likely pathogenic	557018	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3:

⁷² (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	POMGNT1	p.Glu223Lys	VAR_023101	rs386834036
2	POMGNT1	p.Cys269Tyr	VAR_023103	rs386834037
3	POMGNT1	p.Arg311Gln	VAR_023104	rs193919336
4	POMGNT1	p.Trp425Ser	VAR_023105	rs386834011
5	POMGNT1	p.Arg442Cys	VAR_023106	rs28940869
6	POMGNT1	p.Cys490Tyr	VAR_023107	rs267606960
7	POMGNT1	p.Pro493Arg	VAR_023108	rs28942068
8	POMGNT1	p.Ser550Asn	VAR_023109	rs193919335
9	POMGNT1	p.Thr176Pro	VAR_065021	rs386834030
10	POMGNT1	p.Ser198Arg	VAR_065022	rs386834032
11	POMGNT1	p.Arg367His	VAR_065023	rs762972459
12	POMGNT1	p.Asp427His	VAR_065024

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (MDDGA3)

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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