Muscular Dystrophy-Dystroglycanopathy , Type a, 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Name: Muscular Dystrophy-Dystroglycanopathy , Type a, 7 ⁵⁶ ⁷³ ¹³ ⁷¹

Mddga7 ⁵⁶ ⁷³

Muscular Dystrophy-Dystroglycanopathy Congenital with Brain and Eye Anomalies A7 ⁷³

Walker-Warburg Syndrome or Muscle-Eye-Brain Disease, Ispd-Related ⁵⁶

Muscle-Eye-Brain Disease Ispd-Related ⁷³

Walker-Warburg Syndrome Ispd-Related ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset prenatally or at birth
severe phenotype
most patients die in first years of life

HPO:

³¹

muscular dystrophy-dystroglycanopathy , type a, 7:
Inheritance autosomal recessive inheritance

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 ⁵⁶ 614643

OMIM Phenotypic Series ⁵⁶ PS236670

MeSH ⁴³ D058494

MedGen ⁴¹ C3553330 CN124931

UMLS ⁷¹ C3553330

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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

OMIM : ⁵⁶ 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 alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670). (614643)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type a, 7, also known as mddga7, is related to congenital muscular dystrophy-dystroglycanopathy a7. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 7 is CRPPA (CDP-L-Ribitol Pyrophosphorylase A). Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are macrocephaly and low-set ears

UniProtKB/Swiss-Prot : ⁷³ Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. 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, 7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)

#	Related Disease	Score	Top Affiliating Genes
1	congenital muscular dystrophy-dystroglycanopathy a7	11.3

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Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

³¹ (showing 33, show less)

#	Description	HPO Source Accession
1	macrocephaly ³¹	HP:0000256
2	low-set ears ³¹	HP:0000369
3	frontal bossing ³¹	HP:0002007
4	hydrocephalus ³¹	HP:0000238
5	cataract ³¹	HP:0000518
6	microtia ³¹	HP:0008551
7	hypoplasia of the brainstem ³¹	HP:0002365
8	generalized hypotonia ³¹	HP:0001290
9	areflexia ³¹	HP:0001284
10	retrognathia ³¹	HP:0000278
11	optic nerve hypoplasia ³¹	HP:0000609
12	cerebellar hypoplasia ³¹	HP:0001321
13	microphthalmia ³¹	HP:0000568
14	deeply set eye ³¹	HP:0000490
15	dandy-walker malformation ³¹	HP:0001305
16	glaucoma ³¹	HP:0000501
17	retinal detachment ³¹	HP:0000541
18	retinal dysplasia ³¹	HP:0007973
19	decreased fetal movement ³¹	HP:0001558
20	adducted thumb ³¹	HP:0001181
21	remnants of the hyaloid vascular system ³¹	HP:0007968
22	hypoplasia of the corpus callosum ³¹	HP:0002079
23	polymicrogyria ³¹	HP:0002126
24	pachygyria ³¹	HP:0001302
25	partial agenesis of the corpus callosum ³¹	HP:0001338
26	encephalocele ³¹	HP:0002084
27	muscular dystrophy ³¹	HP:0003560
28	intellectual disability, profound ³¹	HP:0002187
29	peters anomaly ³¹	HP:0000659
30	type ii lissencephaly ³¹	HP:0007260
31	elevated serum creatine kinase ³¹	HP:0003236
32	agyria ³¹	HP:0031882
33	subcortical heterotopia ³¹	HP:0032391

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
macrocephaly
frontal bossing

Neurologic Central Nervous System:
hydrocephalus
ventriculomegaly
cerebellar hypoplasia
dandy-walker malformation
hypoplasia of the corpus callosum
more

Head And Neck Face:
retrognathia

Muscle Soft Tissue:
muscular dystrophy
hypotonia
disruption in the basal lamina seen on skeletal muscle biopsy
defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

Laboratory Abnormalities:
increased serum creatine kinase

Abdomen:
visceral malformations (in some patients)

Head And Neck Ears:
low-set ears
small ears

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Eyes:
optic nerve hypoplasia
microphthalmia
glaucoma
retinal detachment
retinal dysplasia
more

Skeletal Hands:
adducted thumbs

Prenatal Manifestations Movement:
decreased fetal movements

Skeletal Limbs:
limb deformations (in some patients)

Clinical features from OMIM:

614643

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Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

⁴⁰

Eye, Brain, Skeletal Muscle

Sources

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

(showing 7, show less)

#	Title	Authors	PMID	Year
1	Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. ⁵⁶ ⁶	Vuillaumier-Barrot S...Seta N	23217329	2012
2	ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. ⁵⁶ ⁶	Willer T...Campbell KP	22522420	2012
3	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. ⁵⁶ ⁶	Roscioli T...van Bokhoven H	22522421	2012
4	Basal lamina abnormality in the skeletal muscle of Walker-Warburg syndrome. ⁵⁶ ⁶	Vajsar J...Becker LE	10738921	2000
5	Walker-Warburg syndrome: neurologic features and muscle membrane structure. ⁵⁶ ⁶	Kanoff RJ...Pegoraro E	9492098	1998
6	Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. ⁵⁶ ⁶	Chitayat D...Becker LE	7604843	1995
7	Congenital Muscular Dystrophy Overview ⁶	Sparks SE...Pegoraro E	20301468	2001

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRPPA	CDP-L-Ribitol Pyrophosphorylase A	Protein Coding	1200	Molecular basis known ⁵⁶ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³	10738921 23217329 9492098 (more) 7604843 20301468 22522420 22522421

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

⁶ (showing 71, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRPPA	NM_001101426.4(CRPPA):c.647C>A (p.Ala216Asp)	SNV	Pathogenic	31565	rs387907160	7:16415754-16415754	7:16376129-16376129
2	CRPPA	NM_001101426.4(CRPPA):c.832A>T (p.Lys278Ter)	SNV	Pathogenic	31566	rs387907161	7:16341049-16341049	7:16301424-16301424
3	CRPPA	NM_001101426.4(CRPPA):c.364G>C (p.Ala122Pro)	SNV	Pathogenic	31567	rs387907162	7:16445856-16445856	7:16406231-16406231
4	CRPPA	NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	SNV	Pathogenic	31568	rs368593151	7:16341079-16341079	7:16301454-16301454
5	CRPPA	NM_001101426.4(CRPPA):c.638T>G (p.Met213Arg)	SNV	Pathogenic	39609	rs397515408	7:16415763-16415763	7:16376138-16376138
6	CRPPA	NM_001101426.3(CRPPA):c.535-?_933+?del	deletion	Pathogenic	39610		7:16317753-16415867	7:16278129-16376241
7	CRPPA	NM_001101426.4(CRPPA):c.466G>A (p.Asp156Asn)	SNV	Pathogenic	39611	rs397514547	7:16445754-16445754	7:16406129-16406129
8	CRPPA	NM_001101426.4(CRPPA):c.1120-1G>T	SNV	Pathogenic	31561	rs397515396	7:16255823-16255823	7:16216198-16216198
9	CRPPA	NM_001101426.3(CRPPA):c.(535_684)+6399_(535_684)+14526del	deletion	Pathogenic	31562		7:16401191-16431594	7:16361566-16391969
10	CRPPA	NM_001101426.4(CRPPA):c.789+2T>G	SNV	Pathogenic	31563	rs397515397	7:16348146-16348146	7:16308521-16308521
11	CRPPA	NM_001101426.4(CRPPA):c.256A>T (p.Arg86Ter)	SNV	Pathogenic	39613	rs397514548	7:16460692-16460692	7:16421067-16421067
12	CRPPA	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	duplication	Pathogenic	279985	rs886041302	7:16460894-16460895	7:16421269-16421270
13	CRPPA	NC_000007.13:g.(?_16341026)_(16348272_?)del	deletion	Pathogenic	473151		7:16341026-16348272
14	CRPPA		deletion	Pathogenic	473152			7:16406061-16406337
15	CRPPA	NM_001101426.4(CRPPA):c.874_886del (p.Glu292fs)	deletion	Pathogenic	473159	rs1554305719	7:16317801-16317813	7:16278176-16278188
16	CRPPA	NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	SNV	Pathogenic	561034	rs186882839	7:16131322-16131322	7:16091697-16091697
17	CRPPA	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	SNV	Pathogenic	561033	rs1202301143	7:16131361-16131361	7:16091736-16091736
18	CRPPA	NC_000007.13:g.(?_16131300)_(16255842_?)del	deletion	Pathogenic	583718		7:16131300-16255842	7:16091675-16216217
19	CRPPA	NC_000007.13:g.(?_16348148)_(16729531_?)del	deletion	Pathogenic	583954		7:16348148-16729531	7:16308523-16689906
20	CRPPA	NC_000007.13:g.(?_16255671)_(16415886_?)del	deletion	Pathogenic	583458		7:16255671-16415886	7:16216046-16376261
21	CRPPA	NM_001101426.4(CRPPA):c.773C>A (p.Ser258Ter)	SNV	Pathogenic	656769		7:16348164-16348164	7:16308539-16308539
22	CRPPA	NC_000007.13:g.(?_16348138)_(16415876_?)del	deletion	Pathogenic	663410		7:16348138-16415876	7:16308513-16376251
23	CRPPA	NC_000007.13:g.(?_16341036)_(16348262_?)del	deletion	Pathogenic	656841		7:16341036-16348262	7:16301411-16308637
24	CRPPA	NM_001101426.4(CRPPA):c.258-1G>C	SNV	Pathogenic/Likely pathogenic	287941	rs767978961	7:16445963-16445963	7:16406338-16406338
25	CRPPA	NC_000007.13:g.(?_16298005)_(16298647_?)del	deletion	Likely pathogenic	661726		7:16298005-16298647	7:16258380-16259022
26	CRPPA	NC_000007.13:g.(?_16415697)_(16415886_?)del	deletion	Likely pathogenic	583821		7:16415697-16415886	7:16376072-16376261
27	CRPPA	NM_001101426.4(CRPPA):c.835+2T>C	SNV	Likely pathogenic	582317	rs773325665	7:16341044-16341044	7:16301419-16301419
28	CRPPA	NC_000007.13:g.(?_16297995)_(16298657_?)del	deletion	Likely pathogenic	540374		7:16297995-16298657	7:16258370-16259032
29	CRPPA	NM_001101426.4(CRPPA):c.933+3A>G	SNV	Conflicting interpretations of pathogenicity	387587	rs377582530	7:16317751-16317751	7:16278126-16278126
30	CRPPA	NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)	SNV	Conflicting interpretations of pathogenicity	289677	rs773739293	7:16415850-16415850	7:16376225-16376225
31	CRPPA	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	SNV	Conflicting interpretations of pathogenicity	193158	rs558064127	7:16460869-16460869	7:16421244-16421244
32	CRPPA	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	deletion	Conflicting interpretations of pathogenicity	31564	rs397515398	7:16445941-16445943	7:16406316-16406318
33	CRPPA	NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)	SNV	Uncertain significance	39612	rs397515409	7:16348224-16348224	7:16308599-16308599
34	CRPPA	NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)	SNV	Uncertain significance	289678	rs200334999	7:16341073-16341073	7:16301448-16301448
35	CRPPA	NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)	SNV	Uncertain significance	290098	rs547473863	7:16317806-16317806	7:16278181-16278181
36	CRPPA	NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)	SNV	Uncertain significance	373694	rs373890080	7:16317792-16317792	7:16278167-16278167
37	CRPPA	NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)	SNV	Uncertain significance	282161	rs202108204	7:16445688-16445688	7:16406063-16406063
38	CRPPA	NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)	SNV	Uncertain significance	285066	rs199691459	7:16445900-16445900	7:16406275-16406275
39	CRPPA	NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)	SNV	Uncertain significance	287450	rs886043637	7:16460748-16460748	7:16421123-16421123
40	CRPPA	NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)	SNV	Uncertain significance	447580	rs762370550	7:16445943-16445943	7:16406318-16406318
41	CRPPA	NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)	SNV	Uncertain significance	288847	rs370397489	7:16317773-16317773	7:16278148-16278148
42	CRPPA	NC_000007.13:g.(?_16255671)_(16255842_?)del	deletion	Uncertain significance	540375		7:16255671-16255842	7:16216046-16216217
43	CRPPA	NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys)	SNV	Uncertain significance	540370	rs202126749	7:16298586-16298586	7:16258961-16258961
44	CRPPA	NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met)	SNV	Uncertain significance	574208	rs373422736	7:16298581-16298581	7:16258956-16258956
45	CRPPA	NM_001101426.4(CRPPA):c.816G>A (p.Ala272=)	SNV	Uncertain significance	473158	rs754348253	7:16341065-16341065	7:16301440-16301440
46	CRPPA	NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu)	SNV	Uncertain significance	473157	rs369193825	7:16348161-16348161	7:16308536-16308536
47	CRPPA	NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln)	SNV	Uncertain significance	473155	rs1356080750	7:16445864-16445864	7:16406239-16406239
48	CRPPA	NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser)	SNV	Uncertain significance	473153	rs369832637	7:16298561-16298561	7:16258936-16258936
49	CRPPA	NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)	SNV	Uncertain significance	473156	rs770257307	7:16348244-16348244	7:16308619-16308619
50	CRPPA	NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)	SNV	Uncertain significance	497567	rs1008210645	7:16415765-16415765	7:16376140-16376140
51	CRPPA	NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)	SNV	Uncertain significance	497569	rs1292380177	7:16460727-16460727	7:16421102-16421102
52	CRPPA	NM_001101426.4(CRPPA):c.933+5G>C	SNV	Uncertain significance	520427	rs1554305652	7:16317749-16317749	7:16278124-16278124
53	CRPPA	NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp)	SNV	Uncertain significance	572350	rs1036959263	7:16460788-16460788	7:16421163-16421163
54	CRPPA	NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)	SNV	Uncertain significance	582562	rs566179705	7:16415787-16415787	7:16376162-16376162
55	CRPPA	NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser)	SNV	Uncertain significance	540372	rs1037010291	7:16460935-16460935	7:16421310-16421310
56	CRPPA	NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu)	SNV	Uncertain significance	540371	rs750477422	7:16317840-16317840	7:16278215-16278215
57	CRPPA	NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr)	SNV	Uncertain significance	579387	rs886042489	7:16460755-16460755	7:16421130-16421130
58	CRPPA	NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)	SNV	Uncertain significance	594085	rs762217429	7:16255750-16255750	7:16216125-16216125
59	CRPPA	NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg)	indel	Uncertain significance	664701		7:16317812-16317813	7:16278187-16278188
60	CRPPA	NC_000007.13:g.(?_16131310)_(16131434_?)del	deletion	Uncertain significance	662846		7:16131310-16131434	7:16091685-16091809
61	CRPPA	NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys)	SNV	Uncertain significance	653779		7:16415758-16415758	7:16376133-16376133
62	CRPPA	NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr)	SNV	Uncertain significance	666121		7:16415761-16415761	7:16376136-16376136
63	CRPPA	NC_000007.13:g.(?_16255681)_(16255832_?)del	deletion	Uncertain significance	662864		7:16255681-16255832	7:16216056-16216207
64	CRPPA	NM_001101426.4(CRPPA):c.836-5T>G	SNV	Uncertain significance	640873		7:16317856-16317856	7:16278231-16278231
65	CRPPA	NM_001101426.4(CRPPA):c.408A>G (p.Ala136=)	SNV	Likely benign	540373	rs541412708	7:16445812-16445812	7:16406187-16406187
66	CRPPA	NM_001101426.4(CRPPA):c.1017T>C (p.Val339=)	SNV	Likely benign	473154	rs773884120	7:16298554-16298554	7:16258929-16258929
67	CRPPA	NM_001101426.4(CRPPA):c.945C>T (p.Val315=)	SNV	Likely benign	473160	rs1554300356	7:16298626-16298626	7:16259001-16259001
68	CRPPA	NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)	SNV	Benign/Likely benign	129287	rs61734789	7:16445813-16445813	7:16406188-16406188
69	CRPPA	NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)	SNV	Benign/Likely benign	129289	rs61746966	7:16348211-16348211	7:16308586-16308586
70	CRPPA	NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)	SNV	Benign	129288	rs7782939	7:16460893-16460893	7:16421268-16421268
71	CRPPA	NM_001101426.4(CRPPA):c.534+13T>A	SNV	Benign	226675	rs6461252	7:16445673-16445673	7:16406048-16406048

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

⁷³ (showing 8, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	CRPPA	p.Ala122Pro	VAR_068101	rs387907162
2	CRPPA	p.Arg126His	VAR_068102	rs752817129
3	CRPPA	p.Ala216Asp	VAR_068103	rs387907160
4	CRPPA	p.Asp156Asn	VAR_069741	rs397514547
5	CRPPA	p.Met213Arg	VAR_069742	rs397515408
6	CRPPA	p.Tyr226His	VAR_069743	rs128278871
7	CRPPA	p.Thr238Ile	VAR_069744	rs397515409
8	CRPPA	p.Arg205His	VAR_078949	rs566179705

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 7.

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

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Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (MDDGA7)

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Articles related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Genes for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 7 (1 elite genes):

Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 7:

Expression for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type a, 7

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 7