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

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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 ⁷³ ¹² ⁷¹

Muscular Dystrophy-Dystroglycanopathy , Type A3 ²⁸ ⁵

Mddga3 ⁵⁷ ⁷³

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A3 ⁷³

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

Dystrophy, Muscular, Dystroglycanopathy , Type A3 ³⁸

Muscle-Eye-Brain Disease Pomgnt1-Related ⁷³

Walker-Warburg Syndrome Pomgnt1-Related ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

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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 08-Dec-2022)

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 pons, and related phenotypes are seizure and hydrocephalus

UniProtKB/Swiss-Prot: ⁷³ 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, intellectual disability, 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	31.0	TSPAN1 POMGNT1
2	muscle eye brain disease	31.0	TSPAN1 POMGNT1
3	muscular dystrophy-dystroglycanopathy , type b, 3	30.0	TSPAN1 POMGNT1
4	muscular dystrophy-dystroglycanopathy	30.0	TSPAN1 POMGNT1
5	muscular dystrophy-dystroglycanopathy , type c, 3	29.9	TSPAN1 POMGNT1
6	hydrocephalus, congenital, 1	10.3
7	muscular dystrophy-dystroglycanopathy , type a, 1	10.3
8	muscular dystrophy-dystroglycanopathy , type b, 1	10.3
9	muscular dystrophy, congenital, lmna-related	10.3
10	lissencephaly	10.3
11	polymicrogyria	10.3
12	myopia	10.3
13	muscular dystrophy	10.3
14	qualitative or quantitative defects of alpha-dystroglycan	10.3
15	retinitis pigmentosa 76	9.7	TSPAN1 POMGNT1
16	congenital muscular dystrophy-dystroglycanopathy type a	9.7	TSPAN1 POMGNT1
17	autosomal recessive limb-girdle muscular dystrophy	9.6	TSPAN1 POMGNT1
18	congenital nervous system abnormality	9.6	TSPAN1 POMGNT1
19	nervous system disease	9.5	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:

³⁰ (show all 49)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
strabismus
myopia
glaucoma
microphthalmia
more

Head And Neck Head:
microcephaly

Head And Neck Nose:
short nasal bridge

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
hydrocephalus
polymicrogyria
cerebellar hypoplasia
pachygyria
cerebellar dysplasia
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 08-Dec-2022)

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

seizures

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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 ²⁸	POMGNT1

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

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

MalaCards : Eye, Brain, Pons, Retina

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

(show all 27)

#	Title	Authors	PMID	Year
1	Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. ⁵⁷ ⁵	Mercuri E...Bertini E	19299310	2009
2	Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. ⁵⁷ ⁵	Godfrey C...Muntoni F	17878207	2007
3	POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. ⁵⁷ ⁵	Biancheri R...Bruno C	17030669	2006
4	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. ⁵⁷ ⁵	Diesen C...Lehesjoki AE	15466003	2004
5	POMGnT1 gene alterations in a family with neurological abnormalities. ⁵⁷ ⁵	Vervoort VS...Srivastava AK	15236414	2004
6	Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. ⁵⁷ ⁵	Taniguchi K...Toda T	12588800	2003
7	Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. ⁵⁷ ⁵	Yoshida A...Endo T	11709191	2001
8	Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. ⁶² ⁵	Borisovna KO...Vladimirovich IV	30961548	2019
9	Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. ⁵	Song D...Xiong H	33200426	2021
10	Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. ⁵	Sframeli M...Muntoni F	28688748	2017
11	Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. ⁵	Xu M...Chen R	26908613	2016
12	Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. ⁵	Stevens E...Muntoni F	23894383	2013
13	Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. ⁵	Saredi S...Mora M	22554691	2012
14	Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. ⁵	Devisme L...Encha-Razavi F	22323514	2012
15	Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. ⁵	Voglmeir J...Flitsch SL	21361872	2011
16	Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. ⁵⁷	Clement E...Muntoni F	19067344	2008
17	Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. ⁵	Manya H...Guicheney P	17869517	2008
18	Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. ⁵	Hehr U...Winkler J	17906881	2007
19	Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. ⁵⁷	Michele DE...Campbell KP	12140558	2002
20	Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. ⁵⁷	Cormand B...Lehesjoki AE	11320179	2001
21	Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping. ⁵⁷	Cormand B...Lehesjoki AE	9915951	1999
22	Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. ⁵⁷	Leyten QH...Mullaart RA	1491751	1992
23	Muscle-eye-brain disease and Walker-Warburg syndrome. ⁵⁷	Santavuori P...Leisti J	2363444	1990
24	Muscle-eye-brain disease (MEB) ⁵⁷	Santavuori P...Leisti J	2751061	1989
25	Ophthalmological findings in a new syndrome with muscle, eye and brain involvement. ⁵⁷	Raitta C...Leisti J	581135	1978
26	Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB). ⁶²	Arvio M...Lahdetie J	31580529	2019
27	Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa. ⁶²	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 ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	11709191 12588800 15236414 (more) 15466003 17030669 17878207 19299310 22323514 22554691 26908613 28688748 17869517 17906881 21361872 23894383 30961548 33200426
2	TSPAN1	Tetraspanin 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	11709191 12588800 15236414 (more) 15466003 17030669 17878207 19299310 22323514 22554691 26908613 28688748 17869517 17906881 21361872 23894383 30961548 33200426

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

⁵ (show top 50) (show all 68)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1413+1G>C	SNV	Pathogenic	211939	rs587777821	GRCh37: 1:46657979-46657979 GRCh38: 1:46192307-46192307
2	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1895+1G>A	SNV	Pathogenic	56592	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
3	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1539+1G>A	SNV	Pathogenic	56582	rs138642840	GRCh37: 1:46657769-46657769 GRCh38: 1:46192097-46192097
4	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1413+1G>T	SNV	Pathogenic	3986	rs587777821	GRCh37: 1:46657979-46657979 GRCh38: 1:46192307-46192307
5	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1649G>A (p.Ser550Asn)	SNV	Pathogenic	3988	rs193919335	GRCh37: 1:46656145-46656145 GRCh38: 1:46190473-46190473
6	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1719del (p.His573fs)	DEL	Pathogenic	3989	rs386834017	GRCh37: 1:46655592-46655592 GRCh38: 1:46189920-46189920
7	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1478C>G (p.Pro493Arg)	SNV	Pathogenic	3990	rs28942068	GRCh37: 1:46657831-46657831 GRCh38: 1:46192159-46192159
8	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys)	SNV	Pathogenic	3992	rs28940869	GRCh37: 1:46658069-46658069 GRCh38: 1:46192397-46192397
9	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)	SNV	Pathogenic	3993	rs193919336	GRCh37: 1:46659545-46659545 GRCh38: 1:46193873-46193873
10	POMGNT1	NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter)	SNV	Pathogenic	3994	rs193919337	GRCh37: 1:46662690-46662690 GRCh38: 1:46197018-46197018
11	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1832del (p.Leu611fs)	DEL	Pathogenic	3995	rs587777822	GRCh37: 1:46655193-46655193 GRCh38: 1:46189521-46189521
12	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1425G>A (p.Trp475Ter)	SNV	Pathogenic	3996	rs267606961	GRCh37: 1:46657884-46657884 GRCh38: 1:46192212-46192212
13	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	DEL	Pathogenic	56591	rs386834022	GRCh37: 1:46655149-46655149 GRCh38: 1:46189477-46189477
14	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1895+1G>T	SNV	Pathogenic	56593	rs386834024	GRCh37: 1:46655129-46655129 GRCh38: 1:46189457-46189457
15	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp)	SNV	Likely Pathogenic	558512	rs375431575	GRCh37: 1:46661719-46661719 GRCh38: 1:46196047-46196047
16	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.702G>A (p.Trp234Ter)	SNV	Likely Pathogenic	1724900		GRCh37: 1:46660274-46660274 GRCh38: 1:46194602-46194602
17	POMGNT1	NM_017739.4(POMGNT1):c.137del (p.Phe46fs)	DEL	Likely Pathogenic	1724968		GRCh37: 1:46662740-46662740 GRCh38: 1:46197068-46197068
18	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1117A>T (p.Lys373Ter)	SNV	Likely Pathogenic	1725088		GRCh37: 1:46658881-46658881 GRCh38: 1:46193209-46193209
19	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1006_1007dup (p.Ile337fs)	DUP	Likely Pathogenic	1725128		GRCh37: 1:46659254-46659255 GRCh38: 1:46193582-46193583
20	POMGNT1	NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)	DEL	Likely Pathogenic	1725210		GRCh37: 1:46663387-46663388 GRCh38: 1:46197715-46197716
21	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1304_1305del (p.Glu435fs)	DEL	Likely Pathogenic	1725260		GRCh37: 1:46658088-46658089 GRCh38: 1:46192416-46192417
22	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1557del (p.Lys519fs)	DEL	Likely Pathogenic	1725374		GRCh37: 1:46656439-46656439 GRCh38: 1:46190767-46190767
23	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.679_681delinsG (p.Lys227fs)	INDEL	Likely Pathogenic	1725447		GRCh37: 1:46660295-46660297 GRCh38: 1:46194623-46194625
24	POMGNT1	NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)	SNV	Likely Pathogenic	1725618		GRCh37: 1:46662651-46662651 GRCh38: 1:46196979-46196979
25	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.732del (p.Pro245fs)	DEL	Likely Pathogenic	1725652		GRCh37: 1:46660244-46660244 GRCh38: 1:46194572-46194572
26	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.580_581del (p.Arg194fs)	DEL	Likely Pathogenic	1724476		GRCh37: 1:46660587-46660588 GRCh38: 1:46194915-46194916
27	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.458C>A (p.Ser153Ter)	SNV	Likely Pathogenic	1726418		GRCh37: 1:46661559-46661559 GRCh38: 1:46195887-46195887
28	POMGNT1	NM_017739.4(POMGNT1):c.94del (p.Gln32fs)	DEL	Likely Pathogenic	1726555		GRCh37: 1:46663400-46663400 GRCh38: 1:46197728-46197728
29	POMGNT1	NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)	SNV	Likely Pathogenic	1726608		GRCh37: 1:46662424-46662424 GRCh38: 1:46196752-46196752
30	POMGNT1	NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)	DEL	Likely Pathogenic	1724200		GRCh37: 1:46662668-46662669 GRCh38: 1:46196996-46196997
31	POMGNT1	NM_017739.4(POMGNT1):c.307del (p.Val103fs)	DEL	Likely Pathogenic	1725918		GRCh37: 1:46662450-46662450 GRCh38: 1:46196778-46196778
32	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1445_1447delinsA (p.Pro482fs)	INDEL	Likely Pathogenic	1724880		GRCh37: 1:46657862-46657864 GRCh38: 1:46192190-46192192
33	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His)	SNV	Likely Pathogenic	872288	rs150877512	GRCh37: 1:46658068-46658068 GRCh38: 1:46192396-46192396
34	POMGNT1	NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)	SNV	Likely Pathogenic	1676834		GRCh37: 1:46662441-46662441 GRCh38: 1:46196769-46196769
35	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1286G>T (p.Gly429Val)	SNV	Likely Pathogenic	1526402		GRCh37: 1:46658107-46658107 GRCh38: 1:46192435-46192435
36	POMGNT1	NM_017739.4(POMGNT1):c.235+2T>G	SNV	Likely Pathogenic	1685411		GRCh37: 1:46662640-46662640 GRCh38: 1:46196968-46196968
37	POMGNT1	NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs)	DUP	Likely Pathogenic	1683691		GRCh37: 1:46662494-46662495 GRCh38: 1:46196822-46196823
38	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)	SNV	Conflicting Interpretations Of Pathogenicity	997802	rs762972459	GRCh37: 1:46658987-46658987 GRCh38: 1:46193315-46193315
39	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly)	SNV	Uncertain Significance	1699043		GRCh37: 1:46656146-46656146 GRCh38: 1:46190474-46190474
40	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.440G>A (p.Arg147His)	SNV	Uncertain Significance	436365	rs776165339	GRCh37: 1:46661577-46661577 GRCh38: 1:46195905-46195905
41	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys)	SNV	Uncertain Significance	1209698		GRCh37: 1:46660032-46660032 GRCh38: 1:46194360-46194360
42	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)	SNV	Uncertain Significance	281057	rs17102066	GRCh37: 1:46657799-46657799 GRCh38: 1:46192127-46192127
43	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn)	SNV	Uncertain Significance	162588	rs142485035	GRCh37: 1:46659986-46659986 GRCh38: 1:46194314-46194314
44	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	SNV	Uncertain Significance	254270	rs200863680	GRCh37: 1:46659965-46659965 GRCh38: 1:46194293-46194293
45	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	SNV	Uncertain Significance	502236	rs200730202	GRCh37: 1:46656400-46656400 GRCh38: 1:46190728-46190728
46	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile)	SNV	Uncertain Significance	658684	rs556069604	GRCh37: 1:46655590-46655590 GRCh38: 1:46189918-46189918
47	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln)	SNV	Uncertain Significance	1030589	rs371741722	GRCh37: 1:46655199-46655199 GRCh38: 1:46189527-46189527
48	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg)	SNV	Uncertain Significance	1030590	rs1658069732	GRCh37: 1:46660273-46660273 GRCh38: 1:46194601-46194601
49	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg)	SNV	Uncertain Significance	1209697		GRCh37: 1:46660254-46660254 GRCh38: 1:46194582-46194582
50	POMGNT1, TSPAN1	NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)	SNV	Uncertain Significance	1209699		GRCh37: 1:46659575-46659575 GRCh38: 1:46193903-46193903

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

⁷³ (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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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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MDDGA3 MCID: MSC045 MIFTS: 37	Muscular Dystrophy-Dystroglycanopathy , Type a, 3 (MDDGA3) Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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

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

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Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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

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

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 3

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 3