Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal myelination (HP:0012447)

Grandparent Node:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal CNS myelination (HP:0011400)

..Starting node
..CNS demyelination (HP:0007305)

Term ID:

7305

Name:

CNS demyelination

Synonym:

Demyelination in central white matter

Definition:

A loss of myelin from nerve fibers in the central nervous system.

Comments:

Reference:

HP:0007305

Genes and Diseases:

Child Nodes:

........

Patchy demyelination of subcortical white matter (HP:0002545)

........

Diffuse demyelination of the cerebral white matter (HP:0007162)

........

Severe demyelination of the white matter (HP:0007258)

........

Spinal cord posterior columns myelin loss (HP:0008311)

Sister Nodes:

Cerebral dysmyelination (HP:0007266)

CNS hypermyelination (HP:0012754)

CNS hypomyelination (HP:0003429)

Delayed CNS myelination (HP:0002188)

Leukodystrophy (HP:0002415)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007305	HP:0007305	CNS demyelination	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0007305	HP:0007305	CNS demyelination	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.	120
HP:0007305	HP:0007305	CNS demyelination	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome		9
HP:0007305	HP:0007305	CNS demyelination	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.	87
HP:0007305	HP:0007305	CNS demyelination	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0007305	HP:0007305	CNS demyelination	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0007305	HP:0007305	CNS demyelination	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0007305	HP:0007305	CNS demyelination	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0007305	HP:0007305	CNS demyelination	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0007305	HP:0007305	CNS demyelination	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0007305	HP:0007305	CNS demyelination	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0007305	HP:0007305	CNS demyelination	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0007305	HP:0007305	CNS demyelination	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0007305	HP:0007305	CNS demyelination	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2		20
HP:0007305	HP:0007305	CNS demyelination	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0007305	HP:0007305	CNS demyelination	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2		199
HP:0007305	HP:0007305	CNS demyelination	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0007305	HP:0007305	CNS demyelination	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0007305	HP:0007305	CNS demyelination	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2		55
HP:0007305	HP:0007305	CNS demyelination	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0007305	HP:0007305	CNS demyelination	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0007305	HP:0007305	CNS demyelination	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease		188
HP:0007305	HP:0007305	CNS demyelination	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0007305	HP:0007305	CNS demyelination	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.	2
HP:0007305	HP:0007305	CNS demyelination	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0007305	HP:0007305	CNS demyelination	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0007305	HP:0007305	CNS demyelination	0	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria		34
HP:0007305	HP:0007305	CNS demyelination	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0007305	HP:0007305	CNS demyelination	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0007305	HP:0007305	CNS demyelination	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0007305	HP:0007305	CNS demyelination	0	MTTP CL E G H	4547	7467	OMIM:200100	ABETALIPOPROTEINEMIA	.	81
HP:0007305	HP:0007305	CNS demyelination	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0007305	HP:0007305	CNS demyelination	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.	1
HP:0007305	HP:0007305	CNS demyelination	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0007305	HP:0007305	CNS demyelination	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0007305	HP:0007305	CNS demyelination	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0007305	HP:0007305	CNS demyelination	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0007305	HP:0007305	CNS demyelination	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0007305	HP:0007305	CNS demyelination	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0007305	HP:0007305	CNS demyelination	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0007305	HP:0007305	CNS demyelination	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0007305	HP:0007305	CNS demyelination	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0007305	HP:0007305	CNS demyelination	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0007305	HP:0007305	CNS demyelination	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0007305	HP:0007305	CNS demyelination	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0007305	HP:0007305	CNS demyelination	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0007305	HP:0007305	CNS demyelination	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0007305	HP:0007305	CNS demyelination	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0007305	HP:0007305	CNS demyelination	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0007305	HP:0007305	CNS demyelination	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0007305	HP:0007162	Diffuse demyelination of the cerebral white matter	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0007305	HP:0007162	Diffuse demyelination of the cerebral white matter	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0007305	HP:0008311	Spinal cord posterior columns myelin loss	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0007305	HP:0002545	Patchy demyelination of subcortical white matter	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	20
HP:0007305	HP:0002545	Patchy demyelination of subcortical white matter	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	199
HP:0007305	HP:0002545	Patchy demyelination of subcortical white matter	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0007305	HP:0002545	Patchy demyelination of subcortical white matter	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0007305	HP:0002545	Patchy demyelination of subcortical white matter	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040281 - Very frequent	55
HP:0007305	HP:0007162	Diffuse demyelination of the cerebral white matter	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.	188
HP:0007305	HP:0007162	Diffuse demyelination of the cerebral white matter	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	L2HGDH CL E G H	79944	20499	OMIM:236792	L-2-Hydroxyglutaric aciduria	.	34
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional	7
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0007305	HP:0008311	Spinal cord posterior columns myelin loss	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.	49
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0007305	HP:0008311	Spinal cord posterior columns myelin loss	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent	49
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040282 - Frequent	11
HP:0007305	HP:0007258	Severe demyelination of the white matter	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7

Genes (44) :ABCD1 ACOX1 ADAT3 ALDH3A2 ASPA ATXN2 CSF1R CYP27A1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ERCC1 ERCC6 ERCC8 GALC GFAP HLA-DQB1 HLA-DRB1 HTRA1 INSR L2HGDH LRPPRC MAT1A MMACHC MTTP NDUFAF4 PDCD1 PDYN PEX19 PIGG PPFIBP1 PPP1R15B PRF1 PRPS1 PSAP PYCR2 RERE SUMF1 TNR TREM2 TREX1 TRMT10A

Diseases (41) :ORPHA:139396 OMIM:264470 ORPHA:363528 OMIM:270200 OMIM:271900 ORPHA:98756 OMIM:221820 ORPHA:909 OMIM:603896 ORPHA:90322 OMIM:214150 OMIM:133540 OMIM:216400 ORPHA:206448 OMIM:245200 OMIM:203450 OMIM:126200 OMIM:600142 ORPHA:769 OMIM:236792 OMIM:220111 OMIM:250850 ORPHA:79282 OMIM:200100 OMIM:618237 OMIM:610245 OMIM:614886 ORPHA:488635 OMIM:620024 ORPHA:391408 OMIM:603553 OMIM:301835 ORPHA:1187 OMIM:611721 OMIM:249900 ORPHA:481152 ORPHA:494344 OMIM:272200 OMIM:619653 OMIM:618193 OMIM:225750

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

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