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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: Ectodermal Dysplasia (D004476)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Immunologic Deficiency Syndromes (D007153)
..Starting node ..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
Child Nodes:
Sister Nodes:
..Activated PI3K-delta Syndrome (C585640)
..Agammaglobulinemia (D000361) 19
..Antibody Deficiency due to Defect in CD19 (C566275)
..Ataxia Telangiectasia (D001260) 6
..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..C9 Deficiency (C565165)
..C9 Deficiency with Dermatomyositis (C565166)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..Cd4+ Lymphocyte Deficiency (C566079)
..CD8 Deficiency, Familial (C563824)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Combined Inflammatory and Immunologic Defect (C565684)
..Common Variable Immunodeficiency (D017074)
..COMPLEMENT COMPONENT 2 DEFICIENCY (OMIM:217000)
..Complement Component 3 Deficiency, Autosomal Recessive (C565169)
..Complement Component 4, Partial Deficiency Of (C565168)
..Complement Component 4a Deficiency (C565167)
..Complement component 5 deficiency (C537005)
..Complement Component 6 Deficiency (C567307)
..Complement Component 7 Deficiency (C566443)
..COMPLEMENT COMPONENT C1r/C1s DEFICIENCY (OMIM:216950)
..Complement Component C1s Deficiency (C565170)
..Complement Factor D Deficiency (C565027)
..Davenport Donlan syndrome (C535988)
..Deltaretrovirus Infections (D006800) 4
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dysgammaglobulinemia (D004406) 11
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant (C567411)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Endotoxin Hyporesponsiveness (C566417)
..Enteropathy, Familial, with Villous Edema and Immunoglobulin G2 Deficiency (C563949)
..Fanconi like syndrome (C536855)
..Griscelli syndrome type 2 (C537302)
..Hepatic venoocclusive disease with immunodeficiency (C537257)
..HIV Infections (D015658) 12
..Hypoglobulinemia and Absent B Cells (C565765)
..Immune Deficiency Disease (C565469)
..Immune Deficiency, Familial Variable (C564136)
..Immunodeficiency due to Defect in CD3-Epsilon (C566082)
..Immunodeficiency due to Defect in CD3-Gamma (C566083)
..Immunodeficiency due to Defect in CD3-Zeta (C565712)
..Immunodeficiency due to Defect in MAPBP-Interacting Protein (C563663)
..Immunodeficiency syndrome, variable (C537362) 1
..Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist (C564135)
..Immunodeficiency without anhidrotic ectodermal dysplasia (C536289)
..Immunodeficiency, Gonadal Dysgenesis, And Pulmonary Fibrosis (C567457)
..Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells (C567200)
..Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes (C565468)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Inosine Phosphorylase Deficiency, Immune Defect Due To (C565465)
..Interleukin 2 Receptor, Alpha, Deficiency of (C565232)
..Invasive Pneumococcal Disease, Recurrent Isolated, 1 (C563662)
..Invasive Pneumococcal Disease, Recurrent Isolated, 2 (C564468)
..IRAK4 Deficiency (C564352)
..Kappa-Chain Deficiency (C564131)
..Kotzot-Richter syndrome (C537025)
..Leukocyte-Adhesion Deficiency Syndrome (D018370) 2
..Lichtenstein syndrome (C535894)
..LIG4 Syndrome (C564694)
..Lymphoblastic Transformation, Intrinsic Defect in (C565431)
..Lymphoid System Deterioration, Progressive (C565430)
..Lymphokine Deficiency (C565428)
..Lymphopenia (D008231) 5
..Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis (C565427)
..MASP2 Deficiency (C565360)
..MYD88 Deficiency (C567379)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT (OMIM:609981)
..Natural Killer Cell Deficiency, Familial Isolated (C566492)
..NEMO mutation with immunodeficiency (C538399)
..Neutrophil Immunodeficiency Syndrome (C564275)
..Phagocyte Bactericidal Dysfunction (D010585) 14
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Riddle Syndrome (C567453)
..Roifman syndrome (C535866)
..Roifman-Chitayat Syndrome (C567641)
..Schimke immunoosseous dysplasia (C536629)
..Severe Combined Immunodeficiency (D016511) 22
..Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive (C563311)
..Splenic Hypoplasia (C563028)
..T cell immunodeficiency primary (C536780)
..T-Cell OKT4 Deficiency (C566080)
..Thumb Agenesis, Short Stature, And Immunodeficiency (C564770)
..Thymic aplasia (C536288)
..Tuftsin Deficiency (C562872)
..WHIM syndrome (C536697)
..Wiskott-Aldrich Syndrome (D014923) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3616

Name:

Ectodermal dysplasia, hypohidrotic, with immune deficiency

Definition:

Alternative IDs:

OMIM:300291

ParentIDs:

MESH:D004476|MESH:D007153|MESH:D040181

TreeNumbers:

C16.131.077.350/C536181 |C16.131.831.350/C536181 |C16.320.322/C536181 |C16.320.850.250/C536181 |C17.800.804.350/C536181 |C17.800.827.250/C536181 |C20.673/C536181

Synonyms:

Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency |EDA-ID, INCLUDED |HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED |HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH HYPOHIDROTIC ECTODERMAL DYSPLASIA, INCLUDED |XHM-ED, INCLUDED

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Immune system disease|Skin disease

Reference:

MedGen: C536181
MeSH: C536181
OMIM: 300291;

Genes: IKBKG;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0002961	Dysgammaglobulinemia
3	HP:0000968	Ectodermal dysplasia
4	HP:0002721	Immunodeficiency
5	HP:0002719	Recurrent infections

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_003639.4(IKBKG):c.265_267delGAG (p.Glu89del)	8517	IKBKG	Likely pathogenic	386134238	RCV000030049;	N	MedGen:C1846006,OMIM:300291	X	153784457	153784459	NM_003639.4:c.265_267delGAG	NP_003630.1:p.Glu89del	NC_000023.10:g.153784457_153784459delGAG	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.399+19G>C	8517	IKBKG	Uncertain significance	386134239	RCV000030050;	N	MedGen:C1846006,OMIM:300291	X	153784610	153784610	NM_003639.4:c.399+19G>C		NC_000023.10:g.153784610G>C	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.458T>G (p.Leu153Arg)	8517	IKBKG	Pathogenic	137853328	RCV000012215;	N	MedGen:C1846006,OMIM:300291	X	153786805	153786805	NM_003639.4:c.458T>G	NP_003630.1:p.Leu153Arg	NC_000023.10:g.153786805T>G	OMIM Allelic Variant:300248.0014	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.470A>C (p.Gln157Pro)	8517	IKBKG	Likely pathogenic	386134240	RCV000030051;	N	MedGen:C1846006,OMIM:300291	X	153786817	153786817	NM_003639.4:c.470A>C	NP_003630.1:p.Gln157Pro	NC_000023.10:g.153786817A>C	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.518+7C>T	8517	IKBKG	Uncertain significance	386134241	RCV000030052;	N	MedGen:C1846006,OMIM:300291	X	153786872	153786872	NM_003639.4:c.518+7C>T		NC_000023.10:g.153786872C>T	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1056-18C>T	8517	IKBKG	Uncertain significance	386134237	RCV000030047;	N	MedGen:C1846006,OMIM:300291	X	153792156	153792156	NM_003639.4:c.1056-18C>T		NC_000023.10:g.153792156C>T	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1056-6T>C	8517	IKBKG	Uncertain significance	201709278	RCV000030048;	N	MedGen:C1846006,OMIM:300291	X	153792168	153792168	NM_003639.4:c.1056-6T>C		NC_000023.10:g.153792168T>C	-	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1171G>T (p.Glu391Ter)	8517	IKBKG	Pathogenic	137853324	RCV000012206;	N	MedGen:C1846006,OMIM:300291	X	153792587	153792587	NM_003639.4:c.1171G>T	NP_003630.1:p.Glu391Ter	NC_000023.10:g.153792587G>T	OMIM Allelic Variant:300248.0007	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1207C>T (p.Gln403Ter)	8517	IKBKG	Pathogenic	137853329	RCV000012216;	N	MedGen:C1846006,OMIM:300291	X	153792623	153792623	NM_003639.4:c.1207C>T	NP_003630.1:p.Gln403Ter	NC_000023.10:g.153792623C>T	OMIM Allelic Variant:300248.0015	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1217A>T (p.Asp406Val)	8517	IKBKG	Pathogenic	137853327	RCV000024285; RCV000012212;	N	MedGen:C1846006,OMIM:300291; MedGen:CN043445	X	153792633	153792633	NM_003639.4:c.1217A>T	NP_003630.1:p.Asp406Val	NC_000023.10:g.153792633A>T	OMIM Allelic Variant:300248.0011	CN043445 Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1249T>C (p.Cys417Arg)	8517	IKBKG	Pathogenic	137853325	RCV000012207; RCV000012208;	N	MedGen:C1846006,OMIM:300291; MedGen:CN043445	X	153792665	153792665	NM_003639.4:c.1249T>C	NP_003630.1:p.Cys417Arg	NC_000023.10:g.153792665T>C	OMIM Allelic Variant:300248.0009	CN043445 Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency
NM_003639.4(IKBKG):c.1250G>T (p.Cys417Phe)	8517	IKBKG	Pathogenic	137853326	RCV000012211; RCV000059068;	N	MedGen:C1846006,OMIM:300291; MedGen:CN221809	X	153792666	153792666	NM_003639.4:c.1250G>T	NP_003630.1:p.Cys417Phe	NC_000023.10:g.153792666G>A,NC_000023.10:g.153792666G>T	OMIM Allelic Variant:300248.0010,UniProtKB (variants):VAR_011325	C1846006 300291 Hypohidrotic ectodermal dysplasia with immune deficiency; CN221809 not provided