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: Anodontia (D000848)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
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:

6380

Name:

Leukodystrophy, Dysmyelinating, with Oligodontia

Definition:

Alternative IDs:

ParentIDs:

MESH:D000848|MESH:D020279

TreeNumbers:

C07.650.800.100/C564344 |C07.793.700.100/C564344 |C10.228.140.163.100.362/C564344 |C10.228.140.695.625/C564344 |C10.314.400/C564344 |C10.574.500.494/C564344 |C16.131.850.800.100/C564344 |C16.320.400.367/C564344 |C16.320.565.189.362/C564344 |C18.452.132.100.362/C5

Synonyms:

Dentoleukoencephalopathy

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Mouth disease|Nervous system disease

Reference:

MedGen: C564344
MeSH: C564344
OMIM: 607694;

Genes: POLR3A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002127	Abnormal upper motor neuron morphology
3	HP:0003487	Babinski sign
4	HP:0001272	Cerebellar atrophy
5	HP:0002120	Cerebral cortical atrophy
6	HP:0003429	CNS hypomyelination
7	HP:0000823	Delayed puberty	HP:0040281
8	HP:0002307	Drooling
9	HP:0001260	Dysarthria
10	HP:0001310	Dysmetria
11	HP:0002015	Dysphagia
12	HP:0001332	Dystonia
13	HP:0001263	Global developmental delay	HP:0040282
14	HP:0001347	Hyperreflexia
15	HP:0000668	Hypodontia
16	HP:0000044	Hypogonadotropic hypogonadism
17	HP:0002079	Hypoplasia of the corpus callosum
18	HP:0002415	Leukodystrophy
19	HP:0000545	Myopia
20	HP:0000639	Nystagmus	HP:0040283
21	HP:0000677	Oligodontia
22	HP:0000648	Optic atrophy	HP:0040283
23	HP:0009830	Peripheral neuropathy	HP:0040283
24	HP:0003812	Phenotypic variability
25	HP:0002174	Postural tremor
26	HP:0003676	Progressive
27	HP:0004322	Short stature
28	HP:0001257	Spasticity

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_007055.3(POLR3A):c.4006C>T (p.Gln1336Ter)	11128	POLR3A	Pathogenic	267608675	RCV000034149;	N	MedGen:C1843200,OMIM:607694	10	79739917	79739917	NM_007055.3:c.4006C>T	NP_008986.2:p.Gln1336Ter	NC_000010.10:g.79739917G>A	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.3991G>A (p.Ala1331Thr)	11128	POLR3A	Pathogenic	267608680	RCV000034148;	N	MedGen:C1843200,OMIM:607694	10	79739932	79739932	NM_007055.3:c.3991G>A	NP_008986.2:p.Ala1331Thr	NC_000010.10:g.79739932C>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro)	11128	POLR3A	Pathogenic	267608669	RCV000034147;	N	MedGen:C1843200,OMIM:607694	10	79741928	79741929	NM_007055.3:c.3742_3743insACC	NP_008986.2:p.Ser1248delinsTyrPro	NC_000010.10:g.79741928_79741929insGGT	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.3436G>A (p.Ala1146Thr)	11128	POLR3A	Uncertain significance	41274600	RCV000185529;	N	MedGen:C1843200,OMIM:607694	10	79742569	79742569	NM_007055.3:c.3436G>A	NP_008986.2:p.Ala1146Thr	NC_000010.10:g.79742569C>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.3014G>A (p.Arg1005His)	11128	POLR3A	Pathogenic	200118797	RCV000034146;	N	MedGen:C1843200,OMIM:607694	10	79745718	79745718	NM_007055.3:c.3014G>A	NP_008986.2:p.Arg1005His	NC_000010.10:g.79745718C>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.3013C>T (p.Arg1005Cys)	11128	POLR3A	Pathogenic	267608682	RCV000024145;	N	MedGen:C1843200,OMIM:607694	10	79745719	79745719	NM_007055.3:c.3013C>T	NP_008986.2:p.Arg1005Cys	NC_000010.10:g.79745719G>A	OMIM Allelic Variant:614258.0007	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2830G>T (p.Glu944Ter)	11128	POLR3A	Pathogenic	267608674	RCV000034145;	N	MedGen:C1843200,OMIM:607694	10	79750883	79750883	NM_007055.3:c.2830G>T	NP_008986.2:p.Glu944Ter	NC_000010.10:g.79750883C>A	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2690T>A (p.Ile897Asn)	11128	POLR3A	Pathogenic	267608681	RCV000024144;	N	MedGen:C1843200,OMIM:607694	10	79753052	79753052	NM_007055.3:c.2690T>A	NP_008986.2:p.Ile897Asn	NC_000010.10:g.79753052A>T	OMIM Allelic Variant:614258.0006	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2617-1G>A	11128	POLR3A	Pathogenic	181087667	RCV000024142;	N	MedGen:C1843200,OMIM:607694	10	79753126	79753126	NM_007055.3:c.2617-1G>A		NC_000010.10:g.79753126C>T	OMIM Allelic Variant:614258.0004	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2554A>G (p.Met852Val)	11128	POLR3A	Likely pathogenic;Pathogenic	267608671	RCV000024141; RCV000198773;	N	MedGen:C1843200,OMIM:607694	10	79759801	79759801	NM_007055.3:c.2554A>G	NP_008986.2:p.Met852Val	NC_000010.10:g.79759801T>C	OMIM Allelic Variant:614258.0003	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2554A>G (p.Met852Val)	11128	POLR3A	Likely pathogenic;Pathogenic	267608671	RCV000024141; RCV000198773;	N	MedGen:C1843200,OMIM:607694	10	79759801	79759801	NM_007055.3:c.2554A>G	NP_008986.2:p.Met852Val	NC_000010.10:g.79759801T>C	OMIM Allelic Variant:614258.0003	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2324A>T (p.Asn775Ile)	11128	POLR3A	Pathogenic	267608672	RCV000034144;	N	MedGen:C1843200,OMIM:607694	10	79761990	79761990	NM_007055.3:c.2324A>T	NP_008986.2:p.Asn775Ile	NC_000010.10:g.79761990T>A	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2171G>A (p.Cys724Tyr)	11128	POLR3A	Pathogenic	267608679	RCV000034143;	N	MedGen:C1843200,OMIM:607694	10	79764550	79764550	NM_007055.3:c.2171G>A	NP_008986.2:p.Cys724Tyr	NC_000010.10:g.79764550C>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.2015G>A (p.Gly672Glu)	11128	POLR3A	Pathogenic	267608670	RCV000024139;	N	MedGen:C1843200,OMIM:607694	10	79767519	79767519	NM_007055.3:c.2015G>A	NP_008986.2:p.Gly672Glu	NC_000010.10:g.79767519C>T	OMIM Allelic Variant:614258.0001	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.1909+18G>A	11128	POLR3A	Pathogenic	267608677	RCV000024140;	N	MedGen:C1843200,OMIM:607694	10	79769277	79769277	NM_007055.3:c.1909+18G>A		NC_000010.10:g.79769277C>T	OMIM Allelic Variant:614258.0002	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.1907C>A (p.Ser636Tyr)	11128	POLR3A	Pathogenic	267608676	RCV000034142;	N	MedGen:C1843200,OMIM:607694	10	79769297	79769297	NM_007055.3:c.1907C>A	NP_008986.2:p.Ser636Tyr	NC_000010.10:g.79769297G>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.1674C>G (p.Phe558Leu)	11128	POLR3A	Pathogenic	267608668	RCV000034141;	N	MedGen:C1843200,OMIM:607694	10	79769718	79769718	NM_007055.3:c.1674C>G	NP_008986.2:p.Phe558Leu	NC_000010.10:g.79769718G>C	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.1114G>A (p.Asp372Asn)	11128	POLR3A	Pathogenic	267608673	RCV000034140;	N	MedGen:C1843200,OMIM:607694	10	79781375	79781375	NM_007055.3:c.1114G>A	NP_008986.2:p.Asp372Asn	NC_000010.10:g.79781375C>T	-	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.418C>T (p.Arg140Ter)	11128	POLR3A	Pathogenic	267608678	RCV000024143;	N	MedGen:C1843200,OMIM:607694	10	79784801	79784801	NM_007055.3:c.418C>T	NP_008986.2:p.Arg140Ter	NC_000010.10:g.79784801G>A	OMIM Allelic Variant:614258.0005	C1843200 607694 Hypomyelinating leukodystrophy 7
NM_007055.3(POLR3A):c.367_369delAAG (p.Lys123del)	11128	POLR3A	Likely pathogenic	780755978	RCV000198773;	N	MedGen:C1843200,OMIM:607694	10	79784850	79784852	NM_007055.3:c.367_369delAAG	NP_008986.2:p.Lys123del	NC_000010.10:g.79784850_79784852delCTT	-	C1843200 607694 Hypomyelinating leukodystrophy 7