Ectodermal Dysplasia and Immunodeficiency 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EDAID2 MCID: ECT109 MIFTS: 29	Ectodermal Dysplasia and Immunodeficiency 2 (EDAID2) Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 2:

Name: Ectodermal Dysplasia and Immunodeficiency 2 ⁵⁷ ⁷² ²⁹ ⁶

Edaid2 ⁵⁷ ⁷²

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant ⁵⁷

Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency Autosomal Dominant ⁷²

Ectodermal Dysplasia, Hypohidrotic, with Immunodeficiency 2 ⁵⁷

Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency ⁷⁰

Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency 2 ⁵⁷

Ectodermal Dysplasia Hypohidrotic with Immunodeficiency ⁷²

Dysplasia, Ectodermal, and Immunodeficiency, Type 2 ³⁹

Hed-Id ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
see also the x-linked form

HPO:

³¹

ectodermal dysplasia and immunodeficiency 2:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 612132

OMIM Phenotypic Series ⁵⁷ PS300291

MeSH ⁴⁴ D004476

MedGen ⁴¹ C2677481

SNOMED-CT via HPO ⁶⁸ 14662005 263681008 29553002 more

UMLS ⁷⁰ C1846006

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Summaries for Ectodermal Dysplasia and Immunodeficiency 2

OMIM® : ⁵⁷ EDAID2 is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity (summary by Boisson et al., 2017). Mutations in the NFKBIA gene result in functional impairment of NFKB (see 164011), a master transcription factor required for normal activation of immune responses. Interruption of NFKB signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007). For discussion of genetic heterogeneity of ectodermal dysplasia and immune deficiency, see 300291. (612132) (Updated 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia and Immunodeficiency 2, also known as edaid2, is related to ectodermal dysplasia and immunodeficiency 1 and hypohidrotic ectodermal dysplasia with immunodeficiency. An important gene associated with Ectodermal Dysplasia and Immunodeficiency 2 is NFKBIA (NFKB Inhibitor Alpha). Affiliated tissues include b cells, and related phenotypes are frontal bossing and recurrent respiratory infections

UniProtKB/Swiss-Prot : ⁷² Ectodermal dysplasia and immunodeficiency 2: A form of ectoderma dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. This form of ectodermal dysplasia is associated with decreased production of pro-inflammatory cytokines and certain interferons, rendering patients susceptible to infection. EDAID2 inheritance is autosomal dominant.

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Related Diseases for Ectodermal Dysplasia and Immunodeficiency 2

Diseases related to Ectodermal Dysplasia and Immunodeficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	ectodermal dysplasia and immunodeficiency 1	11.5
2	hypohidrotic ectodermal dysplasia with immunodeficiency	11.2
3	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	10.2
4	immune deficiency disease	10.2
5	incontinentia pigmenti	10.2
6	ectodermal dysplasia	10.2
7	osteopetrosis	10.1

Graphical network of the top 20 diseases related to Ectodermal Dysplasia and Immunodeficiency 2:

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Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 2

Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 2:

³¹ (show all 13)

#	Description	HPO Source Accession
1	frontal bossing ³¹	HP:0002007
2	recurrent respiratory infections ³¹	HP:0002205
3	hypohidrosis ³¹	HP:0000966
4	hypodontia ³¹	HP:0000668
5	sparse hair ³¹	HP:0008070
6	anhidrosis ³¹	HP:0000970
7	aplasia of the sweat glands ³¹	HP:0011136
8	conical tooth ³¹	HP:0000698
9	heat intolerance ³¹	HP:0002046
10	concave nasal ridge ³¹	HP:0011120
11	recurrent infection of the gastrointestinal tract ³¹	HP:0004798
12	anhidrotic ectodermal dysplasia ³¹	HP:0007476
13	defective production of nfkb1-dependent cytokines ³¹	HP:0011114

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Face:
frontal bossing

Head And Neck Teeth:
hypodontia
conical teeth

Head And Neck Nose:
saddle nose

Abdomen Gastrointestinal:
gastrointestinal infections, recurrent

Skin Nails Hair Skin:
hypohidrosis
anhidrosis
heat intolerance
lack of sweat glands
cutaneous candidiasis

Immunology:
recurrent infections
low or normal serum immunoglobulins
defective production of nfkb1-dependent cytokines by white blood cells
impaired immune responses

Respiratory:
respiratory infections, recurrent

Skin Nails Hair Hair:
light, sparse hair

Clinical features from OMIM®:

612132 (Updated 20-May-2021)

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Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 2

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia and Immunodeficiency 2

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Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 2

Genetic tests related to Ectodermal Dysplasia and Immunodeficiency 2:

#	Genetic test	Affiliating Genes
1	Ectodermal Dysplasia and Immunodeficiency 2 ²⁹	NFKBIA

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Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards organs/tissues related to Ectodermal Dysplasia and Immunodeficiency 2:

⁴⁰

B Cells

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Publications for Ectodermal Dysplasia and Immunodeficiency 2

Articles related to Ectodermal Dysplasia and Immunodeficiency 2:

(show all 28)

#	Title	Authors	PMID	Year
1	IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. ⁵⁷ ⁶	Moriya K...Kanegane H	29948576	2018
2	Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. ⁶ ⁵⁷	Staples E...Thaventhiran JED	28417298	2017
3	Anhidrotic ectodermal dysplasia: a new mutation. ⁵⁷ ⁶	Giancane G...Duse M	23870671	2013
4	Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation. ⁵⁷ ⁶	Yoshioka T...Heike T	23864385	2013
5	A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. ⁶ ⁵⁷	Schimke LF...Torgerson TR	23708964	2013
6	A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. ⁵⁷ ⁶	Lopez-Granados E...Jain A	18412279	2008
7	Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. ⁵⁷ ⁶	McDonald DR...Geha RS	17931563	2007
8	The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. ⁵⁷ ⁶	Janssen R...Lankester A	15337789	2004
9	A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. ⁶ ⁵⁷	Courtois G...Casanova JL	14523047	2003
10	Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. ⁵⁷	Boisson B...Casanova JL	28597146	2017
11	Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ⁶	Lee AJ...Boisson-Dupuis S	26888281	2016
12	Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. ⁵⁷	Lee AJ...Boisson-Dupuis S	26691317	2016
13	Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. ⁵⁷	Dupuis-Girod S...Casanova JL	16769798	2006
14	BK virus encephalopathy and sclerosing vasculopathy in a patient with hypohidrotic ectodermal dysplasia and immunodeficiency. ⁶¹	Darbinyan A...Tsankova NM	27411570	2016
15	B cells from nuclear factor kB essential modulator deficient patients fail to differentiate to antibody secreting cells in response to TLR9 ligand. ⁶¹	Giardino G...Pignata C	26307434	2015
16	Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections. ⁶¹	Carlberg VM...Krol AL	23405946	2014
17	A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). ⁶¹	Roberts CM...Ravenscroft JC	20499091	2010
18	The zinc finger domain of IKKγ (NEMO) protein in health and disease. ⁶¹	Shifera AS	20345847	2010
19	Mutations in the zinc finger domain of IKK gamma block the activation of NF-kappa B and the induction of IL-2 in stimulated T lymphocytes. ⁶¹	Shifera AS...Horwitz MS	18207244	2008
20	The NF-kappaB canonical pathway is involved in the control of the exonucleolytic processing of coding ends during V(D)J recombination. ⁶¹	Souto-Carneiro MM...Lipsky PE	18178844	2008
21	Preimplantation diagnosis for immunodeficiencies. ⁶¹	Verlinsky Y...Kuliev A	17298726	2007
22	Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. ⁶¹	Wu CJ...Ashwell JD	16547522	2006
23	A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. ⁶¹	Martinez-Pomar N...Matamoros N	16228229	2005
24	A role for NF-kappaB essential modifier/IkappaB kinase-gamma (NEMO/IKKgamma) ubiquitination in the activation of the IkappaB kinase complex by tumor necrosis factor-alpha. ⁶¹	Tang ED...Guan KL	12867425	2003
25	Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. ⁶¹	Orange JS...Geha RS	12045264	2002
26	Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). ⁶¹	Kosaki K...Matsuo N	11484156	2001
27	Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. ⁶¹	Mansour S...Murday VA	11241484	2001
28	A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). ⁶¹	Zonana J...Ferguson BM	11047757	2000

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Genes for Ectodermal Dysplasia and Immunodeficiency 2

Genes related to Ectodermal Dysplasia and Immunodeficiency 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	1319.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	14523047 15337789

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Variations for Ectodermal Dysplasia and Immunodeficiency 2

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

⁶ (show top 50) (show all 84)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NFKBIA	NM_020529.2(NFKBIA):c.95G>T (p.Ser32Ile)	SNV	Pathogenic	14003	rs28933100	GRCh37: 14:35873756-35873756 GRCh38: 14:35404550-35404550
2	NFKBIA	NM_020529.2(NFKBIA):c.32G>A (p.Trp11Ter)	SNV	Pathogenic	14004	rs121913664	GRCh37: 14:35873819-35873819 GRCh38: 14:35404613-35404613
3	NFKBIA	NM_020529.2(NFKBIA):c.40G>T (p.Glu14Ter)	SNV	Pathogenic	14005	rs121913665	GRCh37: 14:35873811-35873811 GRCh38: 14:35404605-35404605
4	NFKBIA	NM_020529.2(NFKBIA):c.110T>A (p.Met37Lys)	SNV	Pathogenic	590307	rs1566591073	GRCh37: 14:35873741-35873741 GRCh38: 14:35404535-35404535
5	NFKBIA	NM_020529.2(NFKBIA):c.107C>A (p.Ser36Tyr)	SNV	Pathogenic	590308	rs1566591076	GRCh37: 14:35873744-35873744 GRCh38: 14:35404538-35404538
6	NFKBIA	NM_020529.2(NFKBIA):c.94A>G (p.Ser32Gly)	SNV	Pathogenic	590309	rs1566591086	GRCh37: 14:35873757-35873757 GRCh38: 14:35404551-35404551
7	NFKBIA	NM_020529.2(NFKBIA):c.96C>G (p.Ser32Arg)	SNV	Pathogenic	590310	rs1566591082	GRCh37: 14:35873755-35873755 GRCh38: 14:35404549-35404549
8	NFKBIA	NM_020529.2(NFKBIA):c.95G>A (p.Ser32Asn)	SNV	Pathogenic	590311	rs28933100	GRCh37: 14:35873756-35873756 GRCh38: 14:35404550-35404550
9	NFKBIA	NM_020529.2(NFKBIA):c.337-3T>C	SNV	Conflicting interpretations of pathogenicity	576934	rs756930611	GRCh37: 14:35872569-35872569 GRCh38: 14:35403363-35403363
10	NFKBIA	NM_020529.2(NFKBIA):c.554C>T (p.Thr185Met)	SNV	Conflicting interpretations of pathogenicity	313111	rs142195196	GRCh37: 14:35872059-35872059 GRCh38: 14:35402853-35402853
11	NFKBIA	NM_020529.2(NFKBIA):c.*366G>A	SNV	Uncertain significance	313100	rs552418731	GRCh37: 14:35870853-35870853 GRCh38: 14:35401647-35401647
12	NFKBIA	NM_020529.2(NFKBIA):c.379G>A (p.Ala127Thr)	SNV	Uncertain significance	313114	rs377380656	GRCh37: 14:35872524-35872524 GRCh38: 14:35403318-35403318
13	NFKBIA	NM_020529.2(NFKBIA):c.-80C>T	SNV	Uncertain significance	313121	rs886050476	GRCh37: 14:35873930-35873930 GRCh38: 14:35404724-35404724
14	NFKBIA	NM_020529.2(NFKBIA):c.437C>T (p.Thr146Ile)	SNV	Uncertain significance	583048	rs753691609	GRCh37: 14:35872466-35872466 GRCh38: 14:35403260-35403260
15	NFKBIA	NM_020529.2(NFKBIA):c.847A>T (p.Ser283Cys)	SNV	Uncertain significance	565672	rs989569540	GRCh37: 14:35871659-35871659 GRCh38: 14:35402453-35402453
16	NFKBIA	NM_020529.2(NFKBIA):c.810C>T (p.Gly270=)	SNV	Uncertain significance	567681	rs983972574	GRCh37: 14:35871696-35871696 GRCh38: 14:35402490-35402490
17	NFKBIA	NM_020529.2(NFKBIA):c.*302A>C	SNV	Uncertain significance	313101	rs886050475	GRCh37: 14:35870917-35870917 GRCh38: 14:35401711-35401711
18	NFKBIA	NM_020529.2(NFKBIA):c.547+10C>T	SNV	Uncertain significance	313113	rs201614038	GRCh37: 14:35872346-35872346 GRCh38: 14:35403140-35403140
19	NFKBIA	NM_020529.2(NFKBIA):c.228-3C>T	SNV	Uncertain significance	469609	rs374251732	GRCh37: 14:35873007-35873007 GRCh38: 14:35403801-35403801
20	NFKBIA	NM_020529.2(NFKBIA):c.936C>T (p.Gly312=)	SNV	Uncertain significance	469610	rs1250939805	GRCh37: 14:35871237-35871237 GRCh38: 14:35402031-35402031
21	NFKBIA	NM_020529.2(NFKBIA):c.368A>G (p.Gln123Arg)	SNV	Uncertain significance	648247	rs142422402	GRCh37: 14:35872535-35872535 GRCh38: 14:35403329-35403329
22	NFKBIA	NM_020529.2(NFKBIA):c.790C>T (p.Arg264Trp)	SNV	Uncertain significance	649160	rs747273949	GRCh37: 14:35871716-35871716 GRCh38: 14:35402510-35402510
23	NFKBIA	NM_020529.2(NFKBIA):c.549C>T (p.Gly183=)	SNV	Uncertain significance	652039	rs769491611	GRCh37: 14:35872064-35872064 GRCh38: 14:35402858-35402858
24	NFKBIA	NM_020529.3(NFKBIA):c.682C>G (p.Gln228Glu)	SNV	Uncertain significance	839804		GRCh37: 14:35871824-35871824 GRCh38: 14:35402618-35402618
25	NFKBIA	NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu)	SNV	Uncertain significance	841041		GRCh37: 14:35873672-35873672 GRCh38: 14:35404466-35404466
26	NFKBIA	NM_020529.3(NFKBIA):c.283C>T (p.Arg95Cys)	SNV	Uncertain significance	841632		GRCh37: 14:35872949-35872949 GRCh38: 14:35403743-35403743
27	NFKBIA	NM_020529.3(NFKBIA):c.52G>A (p.Asp18Asn)	SNV	Uncertain significance	842008		GRCh37: 14:35873799-35873799 GRCh38: 14:35404593-35404593
28	NFKBIA	NM_020529.3(NFKBIA):c.209T>C (p.Leu70Pro)	SNV	Uncertain significance	844597		GRCh37: 14:35873642-35873642 GRCh38: 14:35404436-35404436
29	NFKBIA	NM_020529.3(NFKBIA):c.299A>G (p.Asp100Gly)	SNV	Uncertain significance	853953		GRCh37: 14:35872933-35872933 GRCh38: 14:35403727-35403727
30	NFKBIA	NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser)	SNV	Uncertain significance	858355		GRCh37: 14:35872906-35872906 GRCh38: 14:35403700-35403700
31	NFKBIA	NM_020529.3(NFKBIA):c.879_887del (p.295_297FTE[1])	Deletion	Uncertain significance	859175		GRCh37: 14:35871619-35871627 GRCh38: 14:35402413-35402421
32	NFKBIA	NM_020529.3(NFKBIA):c.911C>G (p.Pro304Arg)	SNV	Uncertain significance	881430		GRCh37: 14:35871262-35871262 GRCh38: 14:35402056-35402056
33	NFKBIA	NM_020529.3(NFKBIA):c.111G>A (p.Met37Ile)	SNV	Uncertain significance	934970		GRCh37: 14:35873740-35873740 GRCh38: 14:35404534-35404534
34	NFKBIA	NM_020529.3(NFKBIA):c.888_896del (p.295FTE[1])	Deletion	Uncertain significance	936184		GRCh37: 14:35871610-35871618 GRCh38: 14:35402404-35402412
35	NFKBIA	NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu)	SNV	Uncertain significance	945324		GRCh37: 14:35872562-35872562 GRCh38: 14:35403356-35403356
36	NFKBIA	NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys)	SNV	Uncertain significance	945894		GRCh37: 14:35871233-35871233 GRCh38: 14:35402027-35402027
37	NFKBIA	NM_020529.3(NFKBIA):c.477C>A (p.Ser159Arg)	SNV	Uncertain significance	946213		GRCh37: 14:35872426-35872426 GRCh38: 14:35403220-35403220
38	NFKBIA	NM_020529.3(NFKBIA):c.188C>T (p.Ser63Leu)	SNV	Uncertain significance	951666		GRCh37: 14:35873663-35873663 GRCh38: 14:35404457-35404457
39	NFKBIA	NM_020529.3(NFKBIA):c.117C>G (p.Asp39Glu)	SNV	Uncertain significance	964009		GRCh37: 14:35873734-35873734 GRCh38: 14:35404528-35404528
40	NFKBIA	NM_020529.3(NFKBIA):c.283C>G (p.Arg95Gly)	SNV	Uncertain significance	969546		GRCh37: 14:35872949-35872949 GRCh38: 14:35403743-35403743
41	NFKBIA	NM_020529.3(NFKBIA):c.220G>C (p.Gly74Arg)	SNV	Uncertain significance	1001126		GRCh37: 14:35873631-35873631 GRCh38: 14:35404425-35404425
42	NFKBIA	NM_020529.3(NFKBIA):c.247A>G (p.Ile83Val)	SNV	Uncertain significance	1003140		GRCh37: 14:35872985-35872985 GRCh38: 14:35403779-35403779
43	NFKBIA	NM_020529.3(NFKBIA):c.337-20G>A	SNV	Uncertain significance	1033535		GRCh37: 14:35872586-35872586 GRCh38: 14:35403380-35403380
44	NFKBIA	NM_020529.3(NFKBIA):c.194C>T (p.Pro65Leu)	SNV	Uncertain significance	1046950		GRCh37: 14:35873657-35873657 GRCh38: 14:35404451-35404451
45	NFKBIA	NM_020529.2(NFKBIA):c.110T>G (p.Met37Arg)	SNV	Uncertain significance	590306	rs1566591073	GRCh37: 14:35873741-35873741 GRCh38: 14:35404535-35404535
46	NFKBIA	NM_020529.3(NFKBIA):c.-42G>T	SNV	Uncertain significance	883037		GRCh37: 14:35873892-35873892 GRCh38: 14:35404686-35404686
47	NFKBIA	NM_020529.3(NFKBIA):c.-73C>A	SNV	Uncertain significance	883038		GRCh37: 14:35873923-35873923 GRCh38: 14:35404717-35404717
48	NFKBIA	NM_020529.3(NFKBIA):c.*252T>G	SNV	Uncertain significance	883768		GRCh37: 14:35870967-35870967 GRCh38: 14:35401761-35401761
49	NFKBIA	NM_020529.3(NFKBIA):c.*102T>G	SNV	Uncertain significance	883769		GRCh37: 14:35871117-35871117 GRCh38: 14:35401911-35401911
50	NFKBIA	NM_020529.3(NFKBIA):c.131A>G (p.Gln44Arg)	SNV	Uncertain significance	881869		GRCh37: 14:35873720-35873720 GRCh38: 14:35404514-35404514

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	NFKBIA	p.Ser32Ile	VAR_034871	rs28933100

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Expression for Ectodermal Dysplasia and Immunodeficiency 2

Search GEO for disease gene expression data for Ectodermal Dysplasia and Immunodeficiency 2.

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Pathways for Ectodermal Dysplasia and Immunodeficiency 2

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GO Terms for Ectodermal Dysplasia and Immunodeficiency 2

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Sources for Ectodermal Dysplasia and Immunodeficiency 2

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Ectodermal Dysplasia and Immunodeficiency 2 (EDAID2)

Aliases & Classifications for Ectodermal Dysplasia and Immunodeficiency 2

MalaCards integrated aliases for Ectodermal Dysplasia and Immunodeficiency 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Ectodermal Dysplasia and Immunodeficiency 2

Related Diseases for Ectodermal Dysplasia and Immunodeficiency 2

Diseases related to Ectodermal Dysplasia and Immunodeficiency 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ectodermal Dysplasia and Immunodeficiency 2:

Symptoms & Phenotypes for Ectodermal Dysplasia and Immunodeficiency 2

Human phenotypes related to Ectodermal Dysplasia and Immunodeficiency 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Ectodermal Dysplasia and Immunodeficiency 2

Genetic Tests for Ectodermal Dysplasia and Immunodeficiency 2

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Anatomical Context for Ectodermal Dysplasia and Immunodeficiency 2

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Genes for Ectodermal Dysplasia and Immunodeficiency 2

Genes related to Ectodermal Dysplasia and Immunodeficiency 2 (1 elite genes):

Variations for Ectodermal Dysplasia and Immunodeficiency 2

ClinVar genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia and Immunodeficiency 2:

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