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

Disease Browser
Parent Node: Cataract (D002386)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Hypomyelinating, 5 (C567166)
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:

6384

Name:

Leukodystrophy, Hypomyelinating, 5

Definition:

Alternative IDs:

OMIM:610532

ParentIDs:

MESH:D002386|MESH:D020279

TreeNumbers:

C10.228.140.163.100.362/C567166 |C10.228.140.695.625/C567166 |C10.314.400/C567166 |C10.574.500.494/C567166 |C11.510.245/C567166 |C16.320.400.367/C567166 |C16.320.565.189.362/C567166 |C18.452.132.100.362/C567166 |C18.452.648.189.362/C567166

Synonyms:

HLD5 |Hypomyelination And Congenital Cataract |HYPOMYELINATION AND CONGENITAL CATARACT: HCC

Slim Mappings:

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

Reference:

MedGen: C567166
MeSH: C567166
OMIM: 610532;

Genes: FAM126A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001317	Abnormal cerebellum morphology
4	HP:0003487	Babinski sign
5	HP:0012762	Cerebral white matter atrophy
6	HP:0003431	Decreased motor nerve conduction velocity
7	HP:0000519	Developmental cataract
8	HP:0001260	Dysarthria
9	HP:0001263	Global developmental delay
10	HP:0001347	Hyperreflexia
11	HP:0001249	Intellectual disability
12	HP:0002080	Intention tremor
13	HP:0002415	Leukodystrophy
14	HP:0006957	Loss of ability to walk
15	HP:0007210	Lower limb amyotrophy
16	HP:0007340	Lower limb muscle weakness
17	HP:0001270	Motor delay
18	HP:0008936	Muscular hypotonia of the trunk
19	HP:0001271	Polyneuropathy
20	HP:0002650	Scoliosis
21	HP:0001250	Seizure
22	HP:0030147	Truncal titubation
23	HP:0003828	Variable expressivity

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
FAM126A:c.627-439_831+348del	84668	FAM126A	Pathogenic	80338793	RCV000020928;	N	MedGen:C2674508,OMIM:610532	7	23000506	23004589	NM_032581.3:c.627-439_831+348del			dbVar:nssv3761556,dbVar:nsv1067836	C2674508 610532 Hypomyelination and Congenital Cataract
NM_032581.3(FAM126A):c.624A>G (p.Ser208=)	84668	FAM126A	Benign	3735231	RCV000020929;	N	MedGen:C2674508,OMIM:610532	7	23015831	23015831	NM_032581.3:c.624A>G	NP_115970.2:p.Ser208=	NC_000007.13:g.23015831T>C	-	C2674508 610532 Hypomyelination and Congenital Cataract
NM_032581.3(FAM126A):c.414+1G>T	84668	FAM126A	Pathogenic	72549406	RCV000001274;	N	MedGen:C2674508,OMIM:610532	7	23016959	23016959	NM_032581.3:c.414+1G>T		NC_000007.13:g.23016959C>A,NC_000007.13:g.23016959C>G	OMIM Allelic Variant:610531.0002	C2674508 610532 Hypomyelination and Congenital Cataract
NM_032581.3(FAM126A):c.414+1G>C	84668	FAM126A	not provided	72549406	RCV000144432;	N	MedGen:C2674508,OMIM:610532	7	23016959	23016959	NM_032581.3:c.414+1G>C		NC_000007.13:g.23016959C>A,NC_000007.13:g.23016959C>G	-	C2674508 610532 Hypomyelination and Congenital Cataract
NM_032581.3(FAM126A):c.158T>C (p.Leu53Pro)	84668	FAM126A	Pathogenic	72549407	RCV000001275;	N	MedGen:C2674508,OMIM:610532	7	23018063	23018063	NM_032581.3:c.158T>C	NP_115970.2:p.Leu53Pro	NC_000007.13:g.23018063A>G	OMIM Allelic Variant:610531.0003	C2674508 610532 Hypomyelination and Congenital Cataract
NM_032581.3(FAM126A):c.51+1G>A	84668	FAM126A	Pathogenic	72549405	RCV000001273;	N	MedGen:C2674508,OMIM:610532	7	23030679	23030679	NM_032581.3:c.51+1G>A		NC_000007.13:g.23030679C>T	OMIM Allelic Variant:610531.0001	C2674508 610532 Hypomyelination and Congenital Cataract