MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
Parent Node:
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Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Psychomotor Disorders (D011596)
..Starting node
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Hypomyelination, Global Cerebral (C567847)

       Child Nodes:



 Sister Nodes: 
..expandApraxias (D001072) Child10
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandIchthyosis prematurity syndrome (C536271)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMegarbane syndrome (C536145)
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5590
Name:Hypomyelination, Global Cerebral
Definition:
Alternative IDs:OMIM:612949
ParentIDs:MESH:D011596|MESH:D020279|MESH:D028361
TreeNumbers:C10.228.140.163.100.362/C567847 |C10.228.140.695.625/C567847 |C10.314.400/C567847 |C10.574.500.494/C567847 |C10.597.606.881/C567847 |C16.320.400.367/C567847 |C16.320.565.189.362/C567847 |C18.452.132.100.362/C567847 |C18.452.648.189.362/C567847 |C18.452.660/C56784
Synonyms:AGC1 Deficiency |Aspartate-Glutamate Carrier 1 Deficiency
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C567847
MeSH: C567847
OMIM: 612949;
MSeqDR LSDB: 00107;  
Genes: SLC25A12;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0006808Cerebral hypomyelination
4 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
5 HP:0001263Global developmental delay
NAMDC:  Mental retardation
6 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
7 HP:0000817Poor eye contact
8 HP:0001250Seizures
NAMDC:  Seizures
9 HP:0006829Severe muscular hypotonia
10 HP:0001257Spasticity
NAMDC:  Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003705.4(SLC25A12):c.1769A>G (p.Gln590Arg)8604SLC25A12Pathogenic121434396RCV000006523; NMedGen:C2751855,OMIM:612949,ORPHA:3532172172644147172644147NM_003705.4:c.1769A>GNP_003696.2:p.Gln590ArgNC_000002.11:g.172644147T>COMIM Allelic Variant:603667.0001C2751855 612949 Hypomyelination, global cerebral
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000115840 MSeqDR Search EnsemblSLC25A12111solute carrier family 25 (aspartate/glutamate carrier), member 12 [Source:HGNC Symbol;Acc:10982]00107

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