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

Disease Browser
Parent Node: Diarrhea (D003967)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Polyendocrinopathies, Autoimmune (D016884)
..Starting node ..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
Child Nodes:
Sister Nodes:
..Autoimmune enteropathy (C538273)
..Autoimmune oophoritis (C538274)
..Autoimmune polyendocrinopathy syndrome, type 1 (C538275)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5749

Name:

Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked

Definition:

Alternative IDs:

OMIM:304790

ParentIDs:

MESH:D003967|MESH:D007153|MESH:D016884|MESH:D040181

TreeNumbers:

C16.320.322/C562780 |C19.787/C562780 |C20.111.750/C562780 |C20.673/C562780 |C23.888.821.214/C562780

Synonyms:

Autoimmunity-Immunodeficiency Syndrome, X-Linked |Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea |Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked |DMSD |Enteropathy, Autoimmune, with Hemolytic Anemia and Polye

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Immune system disease|Signs and symptoms

Reference:

MedGen: C562780
MeSH: C562780
OMIM: 304790;

Genes: FOXP3;

Phenotypes

1	HP:0001890	Autoimmune hemolytic anemia
2	HP:0001419	X-linked recessive inheritance
3	HP:0000819	Diabetes mellitus
4	HP:0002014	Diarrhea
5	HP:0000964	Eczema
6	HP:0001880	Eosinophilia
7	HP:0000821	Hypothyroidism
8	HP:0002595	Ileus
9	HP:0002958	Immune dysregulation
10	HP:0002716	Lymphadenopathy
11	HP:0001873	Thrombocytopenia
12	HP:0100651	Type I diabetes mellitus
13	HP:0003828	Variable expressivity
14	HP:0011473	Villous atrophy

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_014009.3(FOXP3):c.1189C>T (p.Arg397Trp)	50943	FOXP3	Pathogenic	28935477	RCV000012160;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49107902	49107902	NM_014009.3:c.1189C>T	NP_054728.2:p.Arg397Trp	NC_000023.10:g.49107902G>A	OMIM Allelic Variant:300292.0001	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.1150G>A (p.Ala384Thr)	50943	FOXP3	Pathogenic	122467170	RCV000012163;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49107941	49107941	NM_014009.3:c.1150G>A	NP_054728.2:p.Ala384Thr	NC_000023.10:g.49107941C>T	OMIM Allelic Variant:300292.0004	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.1117_1118delTTinsGC (p.Phe373Ala)	50943	FOXP3	Pathogenic	122467172	RCV000012168;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49108153	49108154	NM_014009.3:c.1117_1118delTTinsGC	NP_054728.2:p.Phe373Ala	NC_000023.10:g.49108153_49108154delAAinsGC	OMIM Allelic Variant:300292.0009	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.1112T>G (p.Phe371Cys)	50943	FOXP3	Pathogenic	122467169	RCV000012162;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49108159	49108159	NM_014009.3:c.1112T>G	NP_054728.2:p.Phe371Cys	NC_000023.10:g.49108159A>C	OMIM Allelic Variant:300292.0003	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.1099T>C (p.Phe367Leu)	50943	FOXP3	Pathogenic	122467175	RCV000012172;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49108172	49108172	NM_014009.3:c.1099T>C	NP_054728.2:p.Phe367Leu	NC_000023.10:g.49108172A>G	OMIM Allelic Variant:300292.0013	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.970T>C (p.Phe324Leu)	50943	FOXP3	Pathogenic	122467173	RCV000012169;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49109661	49109661	NM_014009.3:c.970T>C	NP_054728.2:p.Phe324Leu	NC_000023.10:g.49109661A>G	OMIM Allelic Variant:300292.0010	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.750_752delGGA (p.Glu251del)	50943	FOXP3	Pathogenic	122467171	RCV000012166;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49111954	49111956	NM_014009.3:c.750_752delGGA	NP_054728.2:p.Glu251del	NC_000023.10:g.49111954_49111956delTCC	OMIM Allelic Variant:300292.0007	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.727delG (p.Glu243Serfs)	50943	FOXP3	Pathogenic	797045588	RCV000194536;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49112184	49112184	NM_014009.3:c.727delG	NP_054728.2:p.Glu243Serfs	NC_000023.10:g.49112184delC	-	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.434C>T (p.Ala145Val)	50943	FOXP3	Likely pathogenic	782528935	RCV000193687;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49113904	49113904	NM_014009.3:c.434C>T	NP_054728.2:p.Ala145Val	NC_000023.10:g.49113904G>A	-	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome
NM_014009.3(FOXP3):c.3G>A (p.Met1Ile)	50943	FOXP3	Pathogenic	122467174	RCV000012171;	N	MedGen:C0342288,OMIM:304790,ORPHA:37042,SNOMED CT:237618001	X	49114960	49114960	NM_014009.3:c.3G>A	NP_054728.2:p.Met1Ile	NC_000023.10:g.49114960C>T	OMIM Allelic Variant:300292.0012	C0342288 304790 Insulin-dependent diabetes mellitus secretory diarrhea syndrome