Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
expandMitochondrial Diseases (D028361)
Parent Node:
expandPsychomotor Disorders (D011596)
..Starting node
..expandHypomyelination, 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)
..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, 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;

Genes: SLC25A12;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003593Infantile onset
3 HP:0001344Absent speech
4 HP:0006808Cerebral hypomyelination
5 HP:0200134Epileptic encephalopathy
6 HP:0001263Global developmental delay
7 HP:0001347Hyperreflexia
8 HP:0000817Poor eye contact
9 HP:0001250Seizure
10 HP:0006829Severe muscular hypotonia
11 HP:0001257Spasticity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
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