MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
expand
Mitochondrial Diseases (D028361)
Parent Node:
expand
Psychomotor Disorders (D011596)
..Starting node
..expand
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:  Mental retardation
5 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
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.*1553T>C8604SLC25A12Uncertain significance886055120RCV000347258; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640231172640231-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*1281G>A8604SLC25A12Uncertain significance746811339RCV000393132; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640503172640503-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*1251A>G8604SLC25A12Uncertain significance886055121RCV000308380; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640533172640533-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*1161T>C8604SLC25A12Likely benign10497374RCV000344563; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640623172640623-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*1050G>A8604SLC25A12Likely benign17499544RCV000403484; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640734172640734-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*995G>A8604SLC25A12Uncertain significance886055122RCV000304862; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640789172640789-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*994C>T8604SLC25A12Uncertain significance189758490RCV000359697; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640790172640790-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*988C>T8604SLC25A12Uncertain significance138037221RCV000265015; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640796172640796-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*965A>G8604SLC25A12Uncertain significance576061664RCV000301485; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172640819172640819-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*754C>A8604SLC25A12Uncertain significance886055123RCV000356349; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641030172641030-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*739G>C8604SLC25A12Likely benign11757RCV000261530; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641045172641045-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*694G>C8604SLC25A12Uncertain significance113965617RCV000316733; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641090172641090-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*165C>T8604SLC25A12Uncertain significance113403751RCV000389865; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641619172641619-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*124G>A8604SLC25A12Uncertain significance13035825RCV000276754; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641660172641660-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.*72T>A8604SLC25A12Uncertain significance779748917RCV000331711; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641712172641712-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1934C>T (p.Thr645Met)8604SLC25A12Uncertain significance747419483RCV000386275; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641887172641887-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1909G>A (p.Gly637Ser)8604SLC25A12Uncertain significance772668725RCV000292001; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172641912172641912-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1769A>G (p.Gln590Arg)8604SLC25A12Pathogenic121434396RCV000006523; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172644147172644147OMIM Allelic Variant:603667.0001,UniProtKB (protein):O75746#VAR_063253C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1665G>A (p.Thr555=)8604SLC25A12Uncertain significance145746525RCV000346860; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172644378172644378-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1618G>A (p.Asp540Asn)8604SLC25A12Likely pathogenic1553469156RCV000578394; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172644425172644425-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1468C>T (p.Arg490Ter)8604SLC25A12Uncertain significance762189046RCV000380881; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172648078172648078-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1458G>A (p.Ala486=)8604SLC25A12Conflicting interpretations of pathogenicity142179562RCV000286434; RCV000474855; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN1693742172648088172648088-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1418G>A (p.Arg473Gln)8604SLC25A12Conflicting interpretations of pathogenicity35565687RCV000341477; RCV000676741; RCV000461502; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN517202; MedGen:CN1693742172650165172650165UniProtKB (protein):O75746#VAR_047917C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1338A>C (p.Pro446=)8604SLC25A12Conflicting interpretations of pathogenicity149278617RCV000408100; RCV000676743; RCV000459719; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN517202; MedGen:CN1693742172650245172650245-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln)8604SLC25A12Pathogenic886037851RCV000239515; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172669962172669962OMIM Allelic Variant:603667.0002,UniProtKB (protein):O75746#VAR_071976C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.957C>A (p.Ile319=)8604SLC25A12Uncertain significance372453718RCV000282985; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172671686172671686-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.737T>C (p.Val246Ala)8604SLC25A12Uncertain significance755954046RCV000337996; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172691251172691251-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.728G>A (p.Arg243Lys)8604SLC25A12Conflicting interpretations of pathogenicity35881803RCV000401889; RCV000676746; RCV000229048; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN517202; MedGen:CN1693742172691260172691260-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.659A>G (p.Asn220Ser)8604SLC25A12Uncertain significance886055124RCV000298194; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172691329172691329-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.466-3C>T8604SLC25A12Likely benign3765166RCV000353264; RCV000676749; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN5172022172693780172693780-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.189A>G (p.Val63=)8604SLC25A12Uncertain significance756682372RCV000403913; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172725211172725211-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.125G>A (p.Arg42His)8604SLC25A12not provided-1RCV000709808; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172725275172725275-
NM_003705.4(SLC25A12):c.99T>C (p.Tyr33=)8604SLC25A12Benign1878583RCV000313636; RCV000676750; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA353217; MedGen:CN5172022172725301172725301-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.13G>A (p.Val5Met)8604SLC25A12Uncertain significance201557997RCV000368279; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172749768172749768-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.4G>A (p.Ala2Thr)8604SLC25A12Uncertain significance886055125RCV000273788; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172750721172750721-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.-55C>T8604SLC25A12Uncertain significance886055126RCV000328883; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172750779172750779-C2751855 612949 Hypomyelination, global cerebral;
NM_003705.4(SLC25A12):c.-57_-56dupGC8604SLC25A12Uncertain significance759200327RCV000364945; NMedGen:C2751855,OMIM:612949, Orphanet:ORPHA3532172172750780172750781-C2751855 612949 Hypomyelination, global cerebral;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000115840 MSeqDR Search EnsemblSLC25A121137solute carrier family 25 (aspartate/glutamate carrier), member 12 [Source:HGNC Symbol;Acc:10982]00107

*Click on gene and variants to check details. Or view all variants in new page