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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

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Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Hypomyelinating, 6 (C567314)
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:

6385

Name:

Leukodystrophy, Hypomyelinating, 6

Definition:

Alternative IDs:

ParentIDs:

MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C567314 |C10.228.140.695.625/C567314 |C10.314.400/C567314 |C10.574.500.494/C567314 |C16.320.400.367/C567314 |C16.320.565.189.362/C567314 |C18.452.132.100.362/C567314 |C18.452.648.189.362/C567314

Synonyms:

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Slim Mappings:

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

Reference:

MedGen: C567314
MeSH: C567314
OMIM: 612438;

Genes: TUBB4A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0001251	Ataxia
4	HP:0001272	Cerebellar atrophy
5	HP:0006808	Cerebral hypomyelination
6	HP:0001266	Choreoathetosis
7	HP:0000750	Delayed speech and language development
8	HP:0001260	Dysarthria
9	HP:0001332	Dystonia
10	HP:0000365	Hearing impairment	HP:0040283
11	HP:0001249	Intellectual disability
12	HP:0002415	Leukodystrophy
13	HP:0000252	Microcephaly
14	HP:0001270	Motor delay
15	HP:0008936	Muscular hypotonia of the trunk
16	HP:0000639	Nystagmus	HP:0040283
17	HP:0000648	Optic atrophy
18	HP:0002465	Poor speech
19	HP:0003676	Progressive
20	HP:0002063	Rigidity
21	HP:0001250	Seizure
22	HP:0004322	Short stature
23	HP:0001257	Spasticity
24	HP:0001328	Specific learning disability
25	HP:0003745	Sporadic
26	HP:0001337	Tremor
27	HP:0003828	Variable expressivity
28	HP:0000505	Visual impairment

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_001289123.1(TUBB4A):c.1381G>A (p.Glu461Lys)	10382	TUBB4A	Pathogenic	587777428	RCV000122736;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495282	6495282	NM_001289123.1:c.1381G>A	NP_001276052.1:p.Glu461Lys	19:g.6495282C>T	OMIM Allelic Variant:602662.0004	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_006087.3(TUBB4A):c.1164G>C (p.Met388Ile)	10382	TUBB4A	Likely pathogenic	797045074	RCV000191139;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495346	6495346	NM_006087.3:c.1164G>C	NP_006078.2:p.Met388Ile	NC_000019.9:g.6495346C>G	-	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_006087.3(TUBB4A):c.763G>A (p.Val255Ile)	10382	TUBB4A	Likely pathogenic	767399782	RCV000199587;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495747	6495747	NM_006087.3:c.763G>A	NP_006078.2:p.Val255Ile	NC_000019.9:g.6495747C>T	-	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_006087.3(TUBB4A):c.745G>A (p.Asp249Asn)	10382	TUBB4A	Pathogenic	483352809	RCV000043681;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495765	6495765	NM_006087.3:c.745G>A	NP_006078.2:p.Asp249Asn	NC_000019.9:g.6495765C>T	OMIM Allelic Variant:602662.0002	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_001289123.1(TUBB4A):c.721C>T (p.His241Tyr)	10382	TUBB4A	Pathogenic	761635539	RCV000173012;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495942	6495942	NM_001289123.1:c.721C>T	NP_001276052.1:p.His241Tyr	NC_000019.9:g.6495942G>A	OMIM Allelic Variant:602662.0008	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_001289123.1(TUBB4A):c.686C>G (p.Thr229Arg)	10382	TUBB4A	Pathogenic	587777468	RCV000128410;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6495977	6495977	NM_001289123.1:c.686C>G	NP_001276052.1:p.Thr229Arg	19:g.6495977G>C	OMIM Allelic Variant:602662.0007	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_001289123.1(TUBB4A):c.620G>T (p.Arg207Leu)	10382	TUBB4A	Pathogenic	587777429	RCV000122737;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6496043	6496043	NM_001289123.1:c.620G>T	NP_001276052.1:p.Arg207Leu	19:g.6496043C>A	OMIM Allelic Variant:602662.0005	C2676244 612438 Leukodystrophy, hypomyelinating, 6
NM_001289123.1(TUBB4A):c.158G>A (p.Arg53Gln)	10382	TUBB4A	Pathogenic	587777467	RCV000128409;	N	MedGen:C2676244,OMIM:612438,ORPHA:139441	19	6502219	6502219	NM_001289123.1:c.158G>A	NP_001276052.1:p.Arg53Gln	19:g.6502219C>T	OMIM Allelic Variant:602662.0006	C2676244 612438 Leukodystrophy, hypomyelinating, 6