MCID: MSC097
MIFTS: 43

Muscular Dystrophy-Dystroglycanopathy , Type a, 14 malady

Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare diseases, Muscle diseases categories

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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48OMIM, 34MalaCards
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MalaCards: Muscular Dystrophy-Dystroglycanopathy , Type a, 14, also known as santavuori congenital muscular dystrophy, is related to congenital muscular dystrophy and muscular dystrophy, and has symptoms including abnormal cry/voice/phonation disorder/nasal speech, movement disorder and hypotonia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14 is GMPPB (GDP-mannose pyrophosphorylase B), and among its related pathways is Other types of O-glycan biosynthesis. The compounds Dolichyl phosphate D-mannose and dolichol phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related mouse phenotypes are craniofacial and other.

Description from OMIM:48 615350, 236670, 253280, 613150, 613153 613154, 615181, 253800 more

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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50Orphanet, 48OMIM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
santavuori congenital muscular dystrophy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

muscular dystrophy-dystroglycanopathy , type a, 14 48
santavuori congenital muscular dystrophy 50
muscle-eye-brain syndrome 50
muscle-eye-brain disease 50
meb syndrome 50


External Ids:

ICD10 via Orphanet27 Q04.3
SNOMED-CT via Orphanet60 277950001
UMLS via Orphanet64 C0457133

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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18GeneCards, 19GeneDecks
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Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 7 family:

Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
muscular dystrophy-dystroglycanopathy , type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy30.5LARGE
2muscular dystrophy30.5POMT2
3walker-warburg syndrome30.3FKRP, FKTN, POMT2, POMGNT1, LARGE, POMT1
4muscle eye brain disease11.0
5brain disease10.9
6muscular dystrophy-dystroglycanopathy , type a, 110.3
7muscle-eye-brain disease with bilateral multicystic leucodystrophy10.3
8cerebritis10.1
9meningitis10.1
10retinitis10.1
11muscular dystrophy-dystroglycanopathy , type a, 310.1
12muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.1
13muscular dystrophy-dystroglycanopathy , type a, 710.1
14muscular dystrophy-dystroglycanopathy , type a, 1210.1
15muscular dystrophy-dystroglycanopathy , type b, 110.1
16muscular dystrophy-dystroglycanopathy , type c, 110.1
17muscular dystrophy-dystroglycanopathy , type a, 1310.1
18mosaic variegated aneuploidy syndrome 210.1
19muscular dystrophy-dystroglycanopathy , type a, 1010.1
20muscular dystrophy-dystroglycanopathy , type a, 210.1
21muscular dystrophy-dystroglycanopathy , type a, 510.1
22muscular dystrophy-dystroglycanopathy , type a, 610.1
23dilated cardiomyopathy10.1FKRP
24limb-girdle muscular dystrophy10.0FKTN, FKRP
25intellectual disability10.0FKRP, POMT1, FKTN
26neuropathy9.9POMGNT1, POMT1, FKTN, FKRP
27myopathy9.9POMGNT1, FKTN, FKRP, POMT1
28fukuyama type muscular dystrophy9.9FKTN, POMGNT1, LARGE, POMT1
29mental retardation9.9FKRP, FKTN, POMGNT1, POMT1
30lissencephaly9.8POMT2, POMGNT1, FKRP, POMT1, FKTN

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:



Diseases related to muscular dystrophy-dystroglycanopathy  , type a, 14

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

615350

Clinical features from OMIM:

615350,236670,253280,613150,613153,613154,615181,253800

Symptoms:

50 (show all 24)
  • abnormal cry/voice/phonation disorder/nasal speech
  • movement disorder
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • meningocele
  • holoprosencephaly/arhinencephaly/unique lateral ventricle
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • cataract/lens opacification
  • autosomal recessive inheritance
  • abnormal emg/electromyogram/electropmyography
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • mild visual loss/impaired visual acuity
  • myopia
  • strabismus/squint
  • hydrocephaly
  • eeg anomalies
  • abnormal gait
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myopathy
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • glaucoma

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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34MalaCards
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

34
Brain, Eye, Cerebellum

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type a, 14 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7POMGNT1, FKRP, LARGE
2MP:00053958.6POMGNT1, POMT2, FKTN
3MP:00053697.9LARGE, POMGNT1, POMT1, FKTN, FKRP
4MP:00036317.5FKTN, POMT2, POMGNT1, LARGE, FKRP
5MP:00053787.3POMGNT1, FKRP, FKTN, POMT2, LARGE
6MP:00107687.1FKRP, POMT2, FKTN, POMT1, POMGNT1, LARGE

Publications for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

65
id Symbol AA change Variation ID SNP ID
1GMPPBp.Asp334AsnVAR_070148

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type a, 14:

1
id Gene Name Type Significance SNP ID Assembly Location
1POMGNT1NM_001243766.1(POMGNT1): c.932G> A (p.Arg311Gln)single nucleotide variantLikely pathogenic, Pathogenicrs193919336GRCh38Chr 1, 46193873: 46193873
2POMGNT1NM_001243766.1(POMGNT1): c.1539+1G> Tsingle nucleotide variantPathogenicrs138642840GRCh37Chr 1, 46657769: 46657769
3POMGNT1NM_001243766.1(POMGNT1): c.931C> T (p.Arg311Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386834039GRCh37Chr 1, 46659546: 46659546
4GMPPBNM_013334.3(GMPPB): c.1081G> A (p.Asp361Asn)single nucleotide variantPathogenicrs397509422GRCh37Chr 3, 49759268: 49759268
5GMPPBNM_013334.3(GMPPB): c.220C> T (p.Arg74Ter)single nucleotide variantPathogenicrs397509423GRCh37Chr 3, 49760726: 49760726

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type a, 14

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type a, 14.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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51PathCards, 31KEGG
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Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.5POMT1, POMT2, POMGNT1

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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25HMDB, 30IUPHAR, 46Novoseek
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Compounds related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Dolichyl phosphate D-mannose259.2POMT1, POMT2
2dolichol phosphate30 2510.0POMT1, POMT2
3manganese46 259.5POMT1, POMT2, POMGNT1

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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17Gene Ontology
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.1B3GALNT2, FKTN, POMT1
2Golgi membraneGO:0001398.3B3GALNT2, FKRP, FKTN, POMGNT1
3integral component of membraneGO:0160217.0POMGNT1, POMT2, POMT1, FKTN, FKRP, B3GALNT2

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein glycosylationGO:0064869.6B3GALNT2, LARGE
2glycoprotein biosynthetic processGO:0091019.2FKRP, LARGE
3protein O-linked glycosylationGO:0064938.7B3GALNT2, POMT1, POMGNT1

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type a, 14 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:0167409.6FKRP, FKTN
2acetylglucosaminyltransferase activityGO:0083759.3B3GALNT2, LARGE
3dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:0041699.2POMT1, POMT2

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Muscular Dystrophy-Dystroglycanopathy , Type a, 14

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet