Human Phenotype Ontology 
Grandparent Node:
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Abnormal CNS myelination (HP:0011400)help
Parent Node:
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CNS hypomyelination (HP:0003429)help
..Starting node
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Cerebral hypomyelination (HP:0006808)help
Term ID: 6808
Name: Cerebral hypomyelination
Synonym: Hypomyelination of the brain
Definition: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
Comments:
Reference: HP:0006808
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006808HP:0006808Cerebral hypomyelination0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0006808HP:0006808Cerebral hypomyelination0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040283 - Occasional46
HP:0006808HP:0006808Cerebral hypomyelination0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0006808HP:0006808Cerebral hypomyelination0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040282 - Frequent8
HP:0006808HP:0006808Cerebral hypomyelination0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0006808HP:0006808Cerebral hypomyelination0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0006808HP:0006808Cerebral hypomyelination0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0006808HP:0006808Cerebral hypomyelination0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0006808HP:0006808Cerebral hypomyelination0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0006808HP:0006808Cerebral hypomyelination0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0006808HP:0006808Cerebral hypomyelination0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0006808HP:0006808Cerebral hypomyelination0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0006808HP:0006808Cerebral hypomyelination0HYCC1 CL E G H8466824587ORPHA:85163Hypomyelination-congenital cataract syndromeHP:0040281 - Very frequent
HP:0006808HP:0006808Cerebral hypomyelination0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0006808HP:0006808Cerebral hypomyelination0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0006808HP:0006808Cerebral hypomyelination0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0006808HP:0006808Cerebral hypomyelination0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0006808HP:0006808Cerebral hypomyelination0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0006808HP:0006808Cerebral hypomyelination0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0006808HP:0006808Cerebral hypomyelination0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0006808HP:0006808Cerebral hypomyelination0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0006808HP:0006808Cerebral hypomyelination0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0006808HP:0006808Cerebral hypomyelination0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040281 - Very frequent60
HP:0006808HP:0006808Cerebral hypomyelination0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0006808HP:0006808Cerebral hypomyelination0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0006808HP:0006808Cerebral hypomyelination0SLC1A4 CL E G H650910942ORPHA:447997Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndromeHP:0040283 - Occasional4
HP:0006808HP:0006808Cerebral hypomyelination0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 39.44
HP:0006808HP:0006808Cerebral hypomyelination0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E.61
HP:0006808HP:0006808Cerebral hypomyelination0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0006808HP:0006808Cerebral hypomyelination0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0006808HP:0006808Cerebral hypomyelination0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0006808HP:0006808Cerebral hypomyelination0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0006808HP:0006808Cerebral hypomyelination0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0006808HP:0006808Cerebral hypomyelination0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0006808HP:0006808Cerebral hypomyelination0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8


Genes (33) :ADSL ALG2 BCAP31 CYB5A CYB5R3 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 GJC2 HYCC1 PGAP2 PGAP3 PHGDH PIGL PIGO PIGV PIGW PIGY PLP1 POLR3B RARS1 SLC1A4 SLC25A12 SOX10 SPATA5 STXBP1 TBCD TMTC3 TUBB4A VPS11 WDR26

Diseases (24) :OMIM:103050 ORPHA:79326 OMIM:300475 ORPHA:369939 ORPHA:621 OMIM:603896 OMIM:608804 ORPHA:85163 ORPHA:247262 ORPHA:79351 ORPHA:280219 ORPHA:280210 OMIM:614381 ORPHA:438114 ORPHA:447997 OMIM:612949 OMIM:611584 ORPHA:457351 OMIM:612164 ORPHA:496641 OMIM:617255 OMIM:612438 OMIM:616683 ORPHA:513456
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.