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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

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Disease Browser
Parent Node: Erythrokeratodermia Variabilis (D056266)
..Starting node ..Erythrokeratodermia, Progressive Symmetric (C566591)
Child Nodes:
Sister Nodes:
..Erythrokeratodermia Variabilis 3 (C563739)
..Erythrokeratodermia Variabilis, Autosomal Recessive (C566391)
..Erythrokeratodermia, Progressive Symmetric (C566591)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3974

Name:

Erythrokeratodermia, Progressive Symmetric

Definition:

Alternative IDs:

OMIM:133200

ParentIDs:

MESH:D056266

TreeNumbers:

C16.320.850.337/C566591 |C17.800.229.606/C566591 |C17.800.428.304/C566591 |C17.800.827.337/C566591

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C566591
MeSH: C566591
OMIM: 133200;

Genes: GJB3; GJB4;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003593	Infantile onset
4	HP:0025092	Epidermal acanthosis
5	HP:0010783	Erythema
6	HP:0005595	Generalized hyperkeratosis
7	HP:0025114	Hypergranulosis
8	HP:0005588	Patchy palmoplantar hyperkeratosis

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_000165.4(GJA1):c.131C>T (p.Ala44Val)	2697	GJA1	Pathogenic	794729675	RCV000185625;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	6	121768124	121768124	NM_000165.4:c.131C>T	NP_000156.1:p.Ala44Val	NC_000006.11:g.121768124C>T	OMIM Allelic Variant:121014.0025	C0265961 133200 Erythrokeratodermia variabilis
NG_008308.1:g.16930A>T	2697	GJA1	Pathogenic	-1	RCV000185624;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	6	121768674	121768674	NM_000165.4:c.681A>T			OMIM Allelic Variant:121014.0024	C0265961 133200 Erythrokeratodermia variabilis
NM_024009.2(GJB3):c.34G>C (p.Gly12Arg)	2707	GJB3	Pathogenic	74315315	RCV000006855;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35250397	35250397	NM_024009.2:c.34G>C	NP_076872.1:p.Gly12Arg	NC_000001.10:g.35250397G>C	OMIM Allelic Variant:603324.0001	C0265961 133200 Erythrokeratodermia variabilis
NM_024009.2(GJB3):c.35G>A (p.Gly12Asp)	2707	GJB3	Pathogenic	74315316	RCV000006856;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35250398	35250398	NM_024009.2:c.35G>A	NP_076872.1:p.Gly12Asp	NC_000001.10:g.35250398G>A	OMIM Allelic Variant:603324.0002	C0265961 133200 Erythrokeratodermia variabilis
NM_024009.2(GJB3):c.101T>C (p.Leu34Pro)	2707	GJB3	Pathogenic	28937583	RCV000006864;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35250464	35250464	NM_024009.2:c.101T>C	NP_076872.1:p.Leu34Pro	NC_000001.10:g.35250464T>C	OMIM Allelic Variant:603324.0010	C0265961 133200 Erythrokeratodermia variabilis
NM_024009.2(GJB3):c.125G>C (p.Arg42Pro)	2707	GJB3	Pathogenic	74315321	RCV000006862;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35250488	35250488	NM_024009.2:c.125G>C	NP_076872.1:p.Arg42Pro	NC_000001.10:g.35250488G>C	OMIM Allelic Variant:603324.0008	C0265961 133200 Erythrokeratodermia variabilis
NM_024009.2(GJB3):c.256T>A (p.Cys86Ser)	2707	GJB3	Pathogenic	74315317	RCV000006857;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35250619	35250619	NM_024009.2:c.256T>A	NP_076872.1:p.Cys86Ser	NC_000001.10:g.35250619T>A	OMIM Allelic Variant:603324.0003	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.35G>A (p.Gly12Asp)	127534	GJB4	Pathogenic	80358211	RCV000005310;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35226890	35226890	NM_153212.2:c.35G>A	NP_694944.1:p.Gly12Asp	NC_000001.10:g.35226890G>A	OMIM Allelic Variant:605425.0004	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.65G>A (p.Arg22His)	127534	GJB4	Pathogenic	80358212	RCV000005311;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35226920	35226920	NM_153212.2:c.65G>A	NP_694944.1:p.Arg22His	NC_000001.10:g.35226920G>A	OMIM Allelic Variant:605425.0005	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.253A>C (p.Thr85Pro)	127534	GJB4	Pathogenic	80358210	RCV000005309;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35227108	35227108	NM_153212.2:c.253A>C	NP_694944.1:p.Thr85Pro	NC_000001.10:g.35227108A>C	OMIM Allelic Variant:605425.0003	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.409T>C (p.Phe137Leu)	127534	GJB4	Pathogenic	80358207	RCV000005307;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35227264	35227264	NM_153212.2:c.409T>C	NP_694944.1:p.Phe137Leu	NC_000001.10:g.35227264T>C	OMIM Allelic Variant:605425.0001	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.411C>A (p.Phe137Leu)	127534	GJB4	Pathogenic	80358206	RCV000005308;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35227266	35227266	NM_153212.2:c.411C>A	NP_694944.1:p.Phe137Leu	NC_000001.10:g.35227266C>A	OMIM Allelic Variant:605425.0002	C0265961 133200 Erythrokeratodermia variabilis
NM_153212.2(GJB4):c.566T>A (p.Phe189Tyr)	127534	GJB4	Pathogenic	80358213	RCV000005312;	N	MedGen:C0265961,OMIM:133200,ORPHA:317,SNOMED CT:70041004	1	35227421	35227421	NM_153212.2:c.566T>A	NP_694944.1:p.Phe189Tyr	NC_000001.10:g.35227421T>A	OMIM Allelic Variant:605425.0006	C0265961 133200 Erythrokeratodermia variabilis