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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: Diabetes Mellitus, Type 2 (D003924)
..Starting node ..Maturity-Onset Diabetes of the Young, Type 1 (C565101)
Child Nodes:
Sister Nodes:
..Diabetes Mellitus, Lipoatrophic (D003923) 1
..Diabetes Mellitus, Noninsulin-Dependent, 1 (C563359)
..Diabetes Mellitus, Noninsulin-Dependent, 2 (C563323)
..Diabetes Mellitus, Noninsulin-Dependent, 3 (C566342)
..Diabetes Mellitus, Noninsulin-Dependent, Type 4 (C564299)
..Diabetes Mellitus, Type II, Autosomal Dominant (C562773)
..Mason-Type Diabetes (C562772)
..Maturity-Onset Diabetes of the Young, Type 1 (C565101)
..Maturity-Onset Diabetes of the Young, Type 2 (C564219)
..Maturity-Onset Diabetes of the Young, Type 3 (C563933)
..Maturity-Onset Diabetes of the Young, Type 4 (C563451)
..Maturity-Onset Diabetes of the Young, Type 8, with Exocrine Dysfunction (C565225)
..Maturity-Onset Diabetes Of The Young, Type 9 (C567393)
..MODY, Type 6 (C565231)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Renal cysts and diabetes syndrome (C535520)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6832

Name:

Maturity-Onset Diabetes of the Young, Type 1

Definition:

Alternative IDs:

OMIM:125850

ParentIDs:

MESH:D003924

TreeNumbers:

C18.452.394.750.149/C565101 |C19.246.300/C565101

Synonyms:

Mild Juvenile Diabetes Mellitus |MODY1 |MODY, Type 1

Slim Mappings:

Endocrine system disease|Metabolic disease

Reference:

MedGen: C565101
MeSH: C565101
OMIM: 125850;

Genes: HNF4A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004904	Maturity-onset diabetes of the young

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_000457.4(HNF4A):c.150G>A (p.Ala50=)	3172	HNF4A	Likely benign	41282026	RCV000030017;	N	MedGen:C1852093,OMIM:125850	20	43034732	43034732	NM_000457.4:c.150G>A	NP_000448.3:p.Ala50=	NC_000020.10:g.43034732G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.347_348delGGinsC (p.Arg116Thrfs)	3172	HNF4A	Likely pathogenic	193922471	RCV000030018;	N	MedGen:C1852093,OMIM:125850	20	43036077	43036078	NM_000457.4:c.347_348delGGinsC	NP_000448.3:p.Arg116Thrfs	NC_000020.10:g.43036077_43036078delGGinsC	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.406C>T (p.Arg136Trp)	3172	HNF4A	Pathogenic	137853336	RCV000009792;	N	MedGen:C1852093,OMIM:125850	20	43042354	43042354	NM_000457.4:c.406C>T	NP_000448.3:p.Arg136Trp	NC_000020.10:g.43042354C>T	OMIM Allelic Variant:600281.0003	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.427A>G (p.Ser143Gly)	3172	HNF4A	Likely pathogenic	193922472	RCV000030019;	N	MedGen:C1852093,OMIM:125850	20	43042375	43042375	NM_000457.4:c.427A>G	NP_000448.3:p.Ser143Gly	NC_000020.10:g.43042375A>G	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.447G>A (p.Leu149=)	3172	HNF4A	Likely benign	193922473	RCV000030020;	N	MedGen:C1852093,OMIM:125850	20	43042395	43042395	NM_000457.4:c.447G>A	NP_000448.3:p.Leu149=	NC_000020.10:g.43042395G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.459T>C (p.Asn153=)	3172	HNF4A	Likely benign	113308087	RCV000030021;	N	MedGen:C1852093,OMIM:125850	20	43042407	43042407	NM_000457.4:c.459T>C	NP_000448.3:p.Asn153=	NC_000020.10:g.43042407T>C	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.487C>T (p.Arg163Ter)	3172	HNF4A	Pathogenic	137853335	RCV000009791;	N	MedGen:C1852093,OMIM:125850	20	43042435	43042435	NM_000457.4:c.487C>T	NP_000448.3:p.Arg163Ter	NC_000020.10:g.43042435C>T	OMIM Allelic Variant:600281.0002	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.492+6G>A	3172	HNF4A	Uncertain significance	182980547	RCV000030022;	N	MedGen:C1852093,OMIM:125850	20	43042446	43042446	NM_000457.4:c.492+6G>A		NC_000020.10:g.43042446G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile)	3172	HNF4A	Uncertain significance	142204928	RCV000030023; RCV000117239;	N	MedGen:C1852093,OMIM:125850; MedGen:CN221809	20	43043159	43043159	NM_000457.4:c.505G>A	NP_000448.3:p.Val169Ile	NC_000020.10:g.43043159G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1; CN221809 not provided
NM_000457.4(HNF4A):c.619G>C (p.Ala207Pro)	3172	HNF4A	Likely pathogenic	193922474	RCV000030024;	N	MedGen:C1852093,OMIM:125850	20	43043273	43043273	NM_000457.4:c.619G>C	NP_000448.3:p.Ala207Pro	NC_000020.10:g.43043273G>C	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.641_648+10del18	3172	HNF4A	Likely pathogenic	193922475	RCV000030025;	N	MedGen:C1852093,OMIM:125850	20	43043295	43043312	NM_000457.4:c.641_648+10del18		NC_000020.10:g.43043295_43043312del18	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.726_728delGCTinsTCAA (p.Leu243Glnfs)	3172	HNF4A	Likely pathogenic	193922476	RCV000030026;	N	MedGen:C1852093,OMIM:125850	20	43047142	43047144	NM_000457.4:c.726_728delGCTinsTCAA	NP_000448.3:p.Leu243Glnfs	NC_000020.10:g.43047142_43047144delGCTinsTCAA	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.735A>G (p.Leu245=)	3172	HNF4A	Benign;Likely benign	139591750	RCV000030027; RCV000192677;	N	MedGen:C1852093,OMIM:125850; MedGen:CN169374	20	43047151	43047151	NM_000457.4:c.735A>G	NP_000448.3:p.Leu245=	NC_000020.10:g.43047151A>G	-	C1852093 125850 Maturity-onset diabetes of the young, type 1; CN169374 not specified
NM_000457.4(HNF4A):c.762C>T (p.His254=)	3172	HNF4A	Likely benign	150078978	RCV000030028;	N	MedGen:C1852093,OMIM:125850	20	43048386	43048386	NM_000457.4:c.762C>T	NP_000448.3:p.His254=	NC_000020.10:g.43048386C>T	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.810C>T (p.Asp270=)	3172	HNF4A	Likely benign	6031592	RCV000030029;	N	MedGen:C1852093,OMIM:125850	20	43048434	43048434	NM_000457.4:c.810C>T	NP_000448.3:p.Asp270=	NC_000020.10:g.43048434C>T	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.829C>T (p.Gln277Ter)	3172	HNF4A	Pathogenic	137853334	RCV000009790;	N	MedGen:C1852093,OMIM:125850	20	43048453	43048453	NM_000457.4:c.829C>T	NP_000448.3:p.Gln277Ter	NC_000020.10:g.43048453C>T	OMIM Allelic Variant:600281.0001	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.834G>C (p.Glu278Asp)	3172	HNF4A	Likely pathogenic	193922477	RCV000030030;	N	MedGen:C1852093,OMIM:125850	20	43048458	43048458	NM_000457.4:c.834G>C	NP_000448.3:p.Glu278Asp	NC_000020.10:g.43048458G>C	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.892+30dupG	3172	HNF4A	Uncertain significance	193922478	RCV000030031;	N	MedGen:C1852093,OMIM:125850	20	43048546	43048546	NM_000457.4:c.892+30dupG		NC_000020.10:g.43048546dupG	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.906G>A (p.Leu302=)	3172	HNF4A	Likely benign	181559088	RCV000030032;	N	MedGen:C1852093,OMIM:125850	20	43052671	43052671	NM_000457.4:c.906G>A	NP_000448.3:p.Leu302=	NC_000020.10:g.43052671G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.990G>T (p.Ser330=)	3172	HNF4A	Likely benign	140146223	RCV000030033;	N	MedGen:C1852093,OMIM:125850	20	43052755	43052755	NM_000457.4:c.990G>T	NP_000448.3:p.Ser330=	NC_000020.10:g.43052755G>T	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys)	3172	HNF4A	Likely pathogenic	193922479	RCV000030034; RCV000193933;	N	Human Phenotype Ontology:HP:0000842,MedGen:C0020459; MedGen:C1852093,OMIM:125850	20	43052756	43052756	NM_000457.4:c.991C>T	NP_000448.3:p.Arg331Cys	NC_000020.10:g.43052756C>T	-	C0020459 Hyperinsulinemia; C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.997C>T (p.Arg333Cys)	3172	HNF4A	Likely pathogenic	193922480	RCV000030035;	N	MedGen:C1852093,OMIM:125850	20	43052762	43052762	NM_000457.4:c.997C>T	NP_000448.3:p.Arg333Cys	NC_000020.10:g.43052762C>T	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.1118T>G (p.Met373Arg)	3172	HNF4A	Pathogenic	137853338	RCV000009796;	N	MedGen:C1852093,OMIM:125850	20	43052883	43052883	NM_000457.4:c.1118T>G	NP_000448.3:p.Met373Arg	NC_000020.10:g.43052883T>G	OMIM Allelic Variant:600281.0007	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.1163C>G (p.Pro388Arg)	3172	HNF4A	Likely pathogenic	193922469	RCV000030012;	N	MedGen:C1852093,OMIM:125850	20	43057008	43057008	NM_000457.4:c.1163C>G	NP_000448.3:p.Pro388Arg	NC_000020.10:g.43057008C>G	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=)	3172	HNF4A	Benign	61737145	RCV000030013;	N	MedGen:C1852093,OMIM:125850	20	43057048	43057048	NM_000457.4:c.1203C>T	NP_000448.3:p.Asn401=	NC_000020.10:g.43057048C>T	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.1253G>C (p.Cys418Ser)	3172	HNF4A	Likely pathogenic	193922470	RCV000030014;	N	MedGen:C1852093,OMIM:125850	20	43057098	43057098	NM_000457.4:c.1253G>C	NP_000448.3:p.Cys418Ser	NC_000020.10:g.43057098G>C	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val)	3172	HNF4A	Uncertain significance	147638455	RCV000030015;	N	MedGen:C1852093,OMIM:125850	20	43058267	43058267	NM_000457.4:c.1387A>G	NP_000448.3:p.Ile463Val	NC_000020.10:g.43058267A>G	-	C1852093 125850 Maturity-onset diabetes of the young, type 1
NM_000457.4(HNF4A):c.*4G>A	3172	HNF4A	Uncertain significance	193922468	RCV000030016;	N	MedGen:C1852093,OMIM:125850	20	43058309	43058309	NM_000457.4:c.*4G>A		NC_000020.10:g.43058309G>A	-	C1852093 125850 Maturity-onset diabetes of the young, type 1