Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Hypomyelinating, 2 (C563855)
Child Nodes:
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847)
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..Leukodystrophy, Metachromatic (D007966) 5
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Megalencephaly with Dysmyelination (C565408)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6382

Name:

Leukodystrophy, Hypomyelinating, 2

Definition:

Alternative IDs:

OMIM:608804

ParentIDs:

MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C563855 |C10.228.140.695.625/C563855 |C10.314.400/C563855 |C10.574.500.494/C563855 |C16.320.400.367/C563855 |C16.320.565.189.362/C563855 |C18.452.132.100.362/C563855 |C18.452.648.189.362/C563855

Synonyms:

HLD2 |Pelizaeus-Merzbacher-Like Disease, 1 |PMLD1

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C563855
MeSH: C563855
OMIM: 608804;

Genes: GJC2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0002059	Cerebral atrophy
6	HP:0006808	Cerebral hypomyelination
7	HP:0001266	Choreoathetosis
8	HP:0100543	Cognitive impairment
9	HP:0003431	Decreased motor nerve conduction velocity
10	HP:0007220	Demyelinating motor neuropathy
11	HP:0001260	Dysarthria
12	HP:0001332	Dystonia
13	HP:0010628	Facial palsy
14	HP:0001263	Global developmental delay
15	HP:0002599	Head titubation
16	HP:0002080	Intention tremor
17	HP:0002415	Leukodystrophy
18	HP:0001270	Motor delay
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0000545	Myopia
21	HP:0000648	Optic atrophy
22	HP:0002465	Poor speech
23	HP:0002191	Progressive spasticity
24	HP:0002063	Rigidity
25	HP:0001583	Rotary nystagmus
26	HP:0001250	Seizure
27	HP:0003390	Sensory axonal neuropathy
28	HP:0002313	Spastic paraparesis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020435.3(GJC2):c.-170A>G	57165	GJC2	Pathogenic	587777496	RCV000128464;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228337558	228337558	NM_020435.3:c.-170A>G		1:g.228337558A>G	OMIM Allelic Variant:608803.0013	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.-167A>G	57165	GJC2	Pathogenic	587776888	RCV000023738;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228337561	228337561	NM_020435.3:c.-167A>G		1:g.228337561A>G	OMIM Allelic Variant:608803.0011	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.268C>T (p.Pro90Ser)	57165	GJC2	Pathogenic	74315312	RCV000002153;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228345727	228345727	NM_020435.3:c.268C>T	NP_065168.2:p.Pro90Ser	NC_000001.10:g.228345727C>T	OMIM Allelic Variant:608803.0002	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.695_696insG (p.Tyr232Terfs)	57165	GJC2	Pathogenic	796065029	RCV000002158;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346154	228346155	NM_020435.3:c.695_696insG	NP_065168.2:p.Tyr232Terfs	NC_000001.10:g.228346154_228346155insG	OMIM Allelic Variant:608803.0007	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.718C>T (p.Arg240Ter)	57165	GJC2	Pathogenic	74315313	RCV000002155;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346177	228346177	NM_020435.3:c.718C>T	NP_065168.2:p.Arg240Ter	NC_000001.10:g.228346177C>T	OMIM Allelic Variant:608803.0004	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.787G>A (p.Glu263Lys)	57165	GJC2	Pathogenic	397514734	RCV000054496;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346246	228346246	NM_020435.3:c.787G>A	NP_065168.2:p.Glu263Lys	NC_000001.10:g.228346246G>A	OMIM Allelic Variant:608803.0012	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.814T>G (p.Tyr272Asp)	57165	GJC2	Pathogenic	74315314	RCV000002156;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346273	228346273	NM_020435.3:c.814T>G	NP_065168.2:p.Tyr272Asp	NC_000001.10:g.228346273T>G	OMIM Allelic Variant:608803.0005	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.857T>C (p.Met286Thr)	57165	GJC2	Pathogenic	74315311	RCV000002152;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346316	228346316	NM_020435.3:c.857T>C	NP_065168.2:p.Met286Thr	NC_000001.10:g.228346316T>C	OMIM Allelic Variant:608803.0001	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.914_947del34 (p.Pro305Argfs)	57165	GJC2	Pathogenic	796065028	RCV000002157;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346373	228346406	NM_020435.3:c.914_947del34	NP_065168.2:p.Pro305Argfs	NC_000001.10:g.228346373_228346406del34	OMIM Allelic Variant:608803.0006	C1837355 608804 Leukodystrophy, hypomyelinating, 2
NM_020435.3(GJC2):c.989delC (p.Pro330Argfs)	57165	GJC2	Pathogenic	796065027	RCV000002154;	N	MedGen:C1837355,OMIM:608804,ORPHA:280282	1	228346448	228346448	NM_020435.3:c.989delC	NP_065168.2:p.Pro330Argfs	NC_000001.10:g.228346448delC	OMIM Allelic Variant:608803.0003	C1837355 608804 Leukodystrophy, hypomyelinating, 2