MCID: ECT062
MIFTS: 53

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive malady

Genetic diseases, Rare diseases, Eye diseases, Liver diseases, Skin diseases, Metabolic diseases, Fetal diseases categories

Aliases & Classifications for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, Aliases & Descriptions:

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 45 10
Hypohidrotic Ectodermal Dysplasia 9 19 41 21 11 47
Christ-Siemens-Touraine Syndrome 9 19 41 21 47 60
Ectodermal Dysplasia, Hypohidrotic 41 20 43 22
Anhidrotic Ectodermal Dysplasia 19 41 21 47
Hypohidrotic Ectodermal Dysplasia X-Linked 41 20 22
Hed 41 21 47
X-Linked Hypohidrotic Ectodermal Dysplasia 41 47
X-Linked Anhidrotic Ectodermal Dysplasia 41 47
Hereditary Hypercholanemia 41 47
Familial Hypercholanemia 41 47
Cst Syndrome 41 21
Xhed 41 47
 
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 60
Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 60
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 60
Hypohidrotic X-Linked Ectodermal Dysplasia 9
Anhidrotic Ectodermal Dysplasia X-Linked 41
Ectodermal Dysplasia 1, Anhydrotic 9
Ectodermal Dysplasia 3, Anhidrotic 60
Anhidrotic Ectodermal Dysplasia 3 9
Ectodermal Dysplasia Anhidrotic 41
Hypercholanemia, Familial 60
Ectodermal Dysplasia 1 41
Eda 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
christ-siemens-touraine syndrome:
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy
hypohidrotic ectodermal dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood
hereditary hypercholanemia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 224900
Disease Ontology9 DOID:14793
NCIt38 C84562
Orphanet47 181, 238468, 238475
MESH via Orphanet34 D053358
ICD10 via Orphanet26 Q82.4
UMLS via Orphanet61 C0162359

Summaries for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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OMIM:45 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or... (224900) more...

MalaCards based summary: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia and tooth agenesis, and has symptoms including everted lower lip vermilion, depressed nasal ridge and delayed eruption of teeth. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (ectodysplasin A receptor), and among its related pathways are MAPK Pathway and Small cell lung cancer. The compounds eicosapentaenoic acid and arginine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Disease Ontology:9 A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Genetics Home Reference:21 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and sweat glands.

NIH Rare Diseases:41 Hypohidrotic ectodermal dysplasia (hed) is a genetic skin disease. common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. hed is caused by mutations in the eda, edar, or edaradd genes. it may be inherited in an x-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. the x-linked form is the most common form. the forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). last updated: 1/21/2014

GeneReviews summary for x-hed

Related Diseases for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Diseases in the Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive family:

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant

Diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia31.5NFKBIA, EDA2R, EDA, EDAR, IKBKG
2tooth agenesis31.1EDARADD
3hypercholanemia, familial30.8TJP2, BAAT
4alopecia30.5IKBKG, EDA2R
5hypohidrosis29.8EDA, EDARADD, EDAR
6anodontia10.8
7immunodeficiency, isolated10.7
8hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.7
9tooth agenesis, selective, x-linked 110.7
10ectodermal dysplasia, hypohidrotic, with immune deficiency10.7
11hypohidrotic ectodermal dysplasia autosomal recessive10.7
12ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency10.7
13ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.6
14hypohidrotic ectodermal dysplasia, autosomal10.6
15hypohidrotic ectodermal dysplasia with immunodeficiency10.6
16ectodermal dysplasia 1, hypohidrotic, x-linked10.5
17hypothyroidism10.5
18ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant10.4
19immunodeficiency 3310.4
20osteopetrosis10.4
21rapp-hodgkin syndrome10.4
22ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.4
23keratoderma10.4
24baat-related familial hypercholanemia10.4
25ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive10.3
26sudden infant death syndrome10.3
27cystic fibrosis10.3
28neuroblastoma10.3
29cataract10.3
30keratoconus10.3
31lymphedema10.3
32ankylosis10.3
33nasopharyngitis10.3
34glucose-6-phosphate dehydrogenase deficiency10.3
35anhidrosis10.3
36atrophic rhinitis10.3
37ectropion10.3
38melanoma10.3
39myiasis10.3
40panuveitis10.3
41rhabdomyosarcoma10.3
42rhinitis10.3
43hidrotic ectodermal dysplasia 210.3
44agenesis of the corpus callosum10.3
45lelis syndrome10.3
46taurodontism10.3
47viljoen winship syndrome10.3
48dysphagia10.3
49nuclear cataract10.3
50breasts and/or nipples, aplasia or hypoplasia of, 210.3

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:



Diseases related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive

Symptoms for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Symptoms by clinical synopsis from OMIM:

224900

Clinical features from OMIM:

224900

Symptoms:

 47 (show all 44)
  • absent/decreased/thin eyebrows
  • flattened nose
  • protruding lips
  • complete/partial microdontia
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • frontal bossing/prominent forehead
  • x-linked recessive inheritance
  • terminal/third phalangeal bone of fingers hypoplasia
  • chronic arterial hypertension
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • insulin-dependent/type 1 diabetes
  • facial dysmorphism
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • xerophthalmia/dry eyes
  • thick lips
  • anomalies of teeth and dentition
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • dry/squaly skin/exfoliation
  • thin skin
  • irregular/in bands/reticular skin hyperpigmentation
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • anomalies of eyelids, eyelashes and lacrimal system
  • depressed nasal bridge
  • anteverted nares/nostrils
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • mouth dryness/xerostomia
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • eczema
  • decreased hair pigmentation/hypopigmentation of hair
  • slow growth of the hair
  • brittle hair/distrix/trichorrhexis
  • cough
  • breast tissue/mammary gland absence/aplasia
  • nails anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality

HPO human phenotypes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

(show all 52)
id Description Frequency HPO Source Accession
1 everted lower lip vermilion hallmark (90%) HP:0000232
2 depressed nasal ridge hallmark (90%) HP:0000457
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 microdontia hallmark (90%) HP:0000691
5 hypohidrosis hallmark (90%) HP:0000966
6 abnormal hair quantity hallmark (90%) HP:0011362
7 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
8 thick lower lip vermilion hallmark (90%) HP:0000179
9 dry skin hallmark (90%) HP:0000958
10 thin skin hallmark (90%) HP:0000963
11 keratoconjunctivitis sicca hallmark (90%) HP:0001097
12 abnormal facial shape hallmark (90%) HP:0001999
13 abnormality of dental morphology hallmark (90%) HP:0006482
14 irregular hyperpigmentation hallmark (90%) HP:0007400
15 reduced number of teeth hallmark (90%) HP:0009804
16 abnormality of immune system physiology hallmark (90%) HP:0010978
17 frontal bossing typical (50%) HP:0002007
18 xerostomia typical (50%) HP:0000217
19 sinusitis typical (50%) HP:0000246
20 anteverted nares typical (50%) HP:0000463
21 hyperkeratosis typical (50%) HP:0000962
22 eczema typical (50%) HP:0000964
23 hypohidrosis typical (50%) HP:0000966
24 slow-growing hair typical (50%) HP:0002217
25 depressed nasal bridge typical (50%) HP:0005280
26 hypopigmentation of hair typical (50%) HP:0005599
27 abnormality of hair texture typical (50%) HP:0010719
28 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
29 hypertension occasional (7.5%) HP:0000822
30 anterior hypopituitarism occasional (7.5%) HP:0000830
31 short distal phalanx of finger occasional (7.5%) HP:0009882
32 type i diabetes mellitus occasional (7.5%) HP:0100651
33 abnormality of the nail occasional (7.5%) HP:0001597
34 abnormal hair quantity occasional (7.5%) HP:0011362
35 cognitive impairment occasional (7.5%) HP:0100543
36 breast aplasia occasional (7.5%) HP:0100783
37 autosomal recessive inheritance HP:0000007
38 everted lower lip vermilion HP:0000232
39 sparse eyebrow HP:0000535
40 periorbital wrinkles HP:0000607
41 sparse eyelashes HP:0000653
42 hypodontia HP:0000668
43 anodontia HP:0000674
44 microdontia HP:0000691
45 hypohidrosis HP:0000966
46 anhidrosis HP:0000970
47 hypotrichosis HP:0001006
48 periorbital hyperpigmentation HP:0001106
49 frontal bossing HP:0002007
50 heat intolerance HP:0002046
51 depressed nasal bridge HP:0005280
52 everted upper lip vermilion HP:0010803

Drugs & Therapeutics for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Drug clinical trials:

Search ClinicalTrials for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Search NIH Clinical Center for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Genetic Tests for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Genetic tests related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Hypohidrotic Ectodermal Dysplasia20 22 EDARADD
2 Hypohidrotic Ectodermal Dysplasia, X-Linked20 EDA
3 Hypohidrotic X-Linked Ectodermal Dysplasia22

Anatomical Context for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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MalaCards organs/tissues related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

31
Skin, Eye, Bone, Breast, Liver

Animal Models for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,... or affiliated genes

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MGI Mouse Phenotypes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.3IKBKG, EDAR, EDARADD, EDA
2MP:00053798.3IKBKG, EDAR, EDARADD, EDA
3MP:00107717.9EDA, EDARADD, EDAR, IKBKG, NFKBIA
4MP:00107687.1EDA, EDARADD, EDAR, TJP2, IKBKG, NFKBIA

Publications for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1EDARp.Cys87ArgVAR_013448
2EDARp.Arg89HisVAR_013449
3EDARp.Arg420GlnVAR_013450
4EDARp.Cys47TyrVAR_054444
5EDARp.Asp110AlaVAR_054445
6EDARp.Cys148ArgVAR_054446
7EDARp.Arg375HisVAR_054447
8EDARp.Leu377PheVAR_054448
9EDARp.Gly382SerVAR_054449
10EDARp.Thr403MetVAR_054450
11EDARp.Thr413ProVAR_054451
12EDARp.Ile418ThrVAR_054452
13EDARp.Trp434CysVAR_054453
14EDARp.Arg98GlnVAR_064830
15EDARp.Arg358GlnVAR_064831
16EDARp.Ile408PheVAR_064833
17EDARp.Trp434ArgVAR_064834

Clinvar genetic disease variations for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

6 (show all 60)
id Gene Variation Type Significance SNP ID Assembly Location
1EDANM_001399.4(EDA): c.181T> C (p.Tyr61His)single nucleotide variantPathogenicrs132630308GRCh37Chr X, 68836333: 68836333
2EDANM_001399.4(EDA): c.206G> T (p.Arg69Leu)single nucleotide variantPathogenicrs132630309GRCh37Chr X, 68836358: 68836358
3EDANM_001399.4(EDA): c.67C> T (p.Gln23Ter)single nucleotide variantPathogenicrs132630310GRCh37Chr X, 68836219: 68836219
4EDANM_001399.4(EDA): c.187G> A (p.Glu63Lys)single nucleotide variantPathogenicrs132630311GRCh37Chr X, 68836339: 68836339
5EDANM_001399.4(EDA): c.463C> T (p.Arg155Cys)single nucleotide variantPathogenicrs132630312GRCh37Chr X, 69176943: 69176943
6EDANM_001399.4(EDA): c.466C> T (p.Arg156Cys)single nucleotide variantPathogenicrs132630313GRCh37Chr X, 69176946: 69176946
7EDANM_001399.4(EDA): c.467G> A (p.Arg156His)single nucleotide variantPathogenicrs132630314GRCh37Chr X, 69176947: 69176947
8EDANM_001399.4(EDA): c.626C> T (p.Pro209Leu)single nucleotide variantPathogenicrs132630315GRCh37Chr X, 69247806: 69247806
9EDANM_001399.4(EDA): c.671G> C (p.Gly224Ala)single nucleotide variantPathogenicrs132630316GRCh37Chr X, 69247851: 69247851
10EDANM_001399.4(EDA): c.1045G> A (p.Ala349Thr)single nucleotide variantPathogenicrs132630317GRCh37Chr X, 69255328: 69255328
11EDANM_001399.4(EDA): c.183C> G (p.Tyr61Ter)single nucleotide variantPathogenicrs132630318GRCh37Chr X, 68836335: 68836335
12EDAEDA, 36-BP DEL, EX5deletionPathogenic
13EDAEDA, 1-BP DEL, EX6deletionPathogenic
14EDAEDA, 1-BP INS, 573TinsertionPathogenic
15EDAEDA, 2-BP INS, 913TAinsertionPathogenic
16IKBKGNM_003639.4(IKBKG): c.1171G> T (p.Glu391Ter)single nucleotide variantPathogenicrs137853324GRCh37Chr X, 153792587: 153792587
17IKBKGNM_003639.4(IKBKG): c.1249T> C (p.Cys417Arg)single nucleotide variantPathogenicrs137853325GRCh37Chr X, 153792665: 153792665
18IKBKGIKBKG, 1-BP DUP, 1167CduplicationPathogenic
19IKBKGNM_003639.4(IKBKG): c.1250G> T (p.Cys417Phe)single nucleotide variantPathogenicrs137853326GRCh37Chr X, 153792666: 153792666
20IKBKGNM_003639.4(IKBKG): c.1217A> T (p.Asp406Val)single nucleotide variantPathogenicrs137853327GRCh37Chr X, 153792633: 153792633
21IKBKGIKBKG, 4.4-KB DUPduplicationPathogenic
22IKBKGNM_003639.4(IKBKG): c.458T> G (p.Leu153Arg)single nucleotide variantPathogenicrs137853328GRCh37Chr X, 153786805: 153786805
23IKBKGNM_003639.4(IKBKG): c.1207C> T (p.Gln403Ter)single nucleotide variantPathogenicrs137853329GRCh37Chr X, 153792623: 153792623
24IKBKGIKBKG, IVS6DS, G-A, +5single nucleotide variantPathogenic
25IKBKGIKBKG, 1-BP INS, 1409AinsertionPathogenic
26NFKBIANM_020529.2(NFKBIA): c.95G> T (p.Ser32Ile)single nucleotide variantPathogenicrs28933100GRCh37Chr 14, 35873756: 35873756
27NFKBIANM_020529.2(NFKBIA): c.32G> A (p.Trp11Ter)single nucleotide variantPathogenicrs121913664GRCh37Chr 14, 35873819: 35873819
28NFKBIANM_020529.2(NFKBIA): c.40G> T (p.Glu14Ter)single nucleotide variantPathogenicrs121913665GRCh37Chr 14, 35873811: 35873811
29EPHX1EPHX1, -4238T-Asingle nucleotide variantPathogenic
30EPHX1EPHX1, 2557C-Gsingle nucleotide variantPathogenic
31TJP2NM_004817.3(TJP2): c.143T> C (p.Val48Ala)single nucleotide variantPathogenicrs121918299GRCh37Chr 9, 71831283: 71831283
32EDANM_001399.4(EDA): c.826C> T (p.Arg276Cys)single nucleotide variantPathogenicrs387907197GRCh37Chr X, 69253280: 69253280
33IKBKGNM_003639.4(IKBKG): c.265_267delGAG (p.Glu89del)deletionLikely pathogenicrs386134238GRCh37Chr X, 153784457: 153784459
34IKBKGNM_003639.4(IKBKG): c.470A> C (p.Gln157Pro)single nucleotide variantLikely pathogenicrs386134240GRCh37Chr X, 153786817: 153786817
35EDARADDNM_145861.2(EDARADD): c.454G> A (p.Glu152Lys)single nucleotide variantPathogenicrs74315309GRCh37Chr 1, 236645755: 236645755
36EDARADDNM_145861.2(EDARADD): c.365T> G (p.Leu122Arg)single nucleotide variantPathogenicrs121908116GRCh37Chr 1, 236645666: 236645666
37EDANM_001399.4(EDA): c.272dupG (p.Ser91Argfs)duplicationPathogenicrs397516656GRCh37Chr X, 68836424: 68836425
38EDANM_001399.4(EDA): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs397516659GRCh37Chr X, 68836154: 68836154
39EDANM_001399.4(EDA): c.329C> A (p.Ser110Ter)single nucleotide variantPathogenicrs397516660GRCh37Chr X, 68836481: 68836481
40EDANM_001399.4(EDA): c.347T> A (p.Leu116Ter)single nucleotide variantPathogenicrs397516661GRCh37Chr X, 68836499: 68836499
41EDANM_001399.4(EDA): c.546_581del36 (p.Asn185_Pro196del)deletionPathogenicrs397516665GRCh37Chr X, 69247726: 69247761
42EDANM_001399.4(EDA): c.553_588del36 (p.Asn185_Pro196del)deletionPathogenicrs397516666GRCh37Chr X, 69247733: 69247768
43EDANM_001399.4(EDA): c.562_589del28 (p.Pro188Argfs)deletionPathogenicrs397516667GRCh37Chr X, 69247742: 69247769
44EDANM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del)deletionPathogenicrs397516668GRCh37Chr X, 69247752: 69247769
45EDANM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs)deletionPathogenicrs397516670GRCh37Chr X, 69247843: 69247877
46EDANM_001399.4(EDA): c.730C> T (p.Arg244Ter)single nucleotide variantPathogenicrs397516672GRCh37Chr X, 69249377: 69249377
47EDANM_001399.4(EDA): c.822delG (p.Trp274Cysfs)deletionPathogenicrs397516676GRCh37Chr X, 69253276: 69253276
48EDANM_001399.4(EDA): c.871G> A (p.Gly291Arg)single nucleotide variantPathogenicrs397516677GRCh37Chr X, 69253325: 69253325
49EDANM_001399.4(EDA): c.961G> T (p.Glu321Ter)single nucleotide variantPathogenicrs397516682GRCh37Chr X, 69255244: 69255244
50EDAREDAR, 18-BP DEL, IVS2deletionPathogenic
51EDARNM_022336.3(EDAR): c.266G> A (p.Arg89His)single nucleotide variantPathogenicrs121908450GRCh37Chr 2, 109545744: 109545744
52EDAREDAR, DELdeletionPathogenic
53EDARNM_022336.3(EDAR): c.259T> C (p.Cys87Arg)single nucleotide variantPathogenicrs121908451GRCh37Chr 2, 109545751: 109545751
54EDAREDAR, IVS2DS, G-A, +1single nucleotide variantPathogenic
55EDARNM_022336.3(EDAR): c.1124G> A (p.Arg375His)single nucleotide variantPathogenicrs121908454GRCh37Chr 2, 109513586: 109513586
56EDARNM_022336.3(EDAR): c.329A> C (p.Asp110Ala)single nucleotide variantPathogenicrs121908455GRCh37Chr 2, 109545681: 109545681
57EDAREDAR, 4-BP DEL, 718AAAGdeletionPathogenic
58EDAREDAR, IVS9, G-A, +1single nucleotide variantPathogenic
59EDARADDNM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del)deletionPathogenicrs397515575GRCh37Chr 1, 236645703: 236645708
60BAATNM_001701.3(BAAT): c.226A> G (p.Met76Val)single nucleotide variantPathogenicrs28937579GRCh37Chr 9, 104133461: 104133461

Expression for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Search GEO for disease gene expression data for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive.

Pathways for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Pathways related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7NFKBIA, IKBKG
29.7IKBKG, NFKBIA
39.7NFKBIA, IKBKG
4
Show member pathways
9.7NFKBIA, IKBKG
5
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.7NFKBIA, IKBKG
6
Show member pathways
9.7IKBKG, NFKBIA
7
Show member pathways
9.7NFKBIA, IKBKG
89.7NFKBIA, IKBKG
99.7IKBKG, NFKBIA
10
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades58
9.7IKBKG, NFKBIA
11
Show member pathways
9.7IKBKG, NFKBIA
129.7NFKBIA, IKBKG
139.7NFKBIA, IKBKG
14
Show member pathways
9.7NFKBIA, IKBKG
15
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway58
9.7IKBKG, NFKBIA
16
Show member pathways
Apoptosis and survival Lymphotoxin beta receptor signaling58
9.7NFKBIA, IKBKG
17
Show member pathways
9.7NFKBIA, IKBKG
189.6EPHX1, BAAT
19
Show member pathways
9.4EDAR, IKBKG, NFKBIA
20
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
9.2NFKBIA, IKBKG, TJP2
21
Show member pathways
9.2NFKBIA, IKBKG, TJP2
22
Show member pathways
8.5NFKBIA, EDAR, EDA, EDA2R
23
Show member pathways
8.1EDA2R, EDA, EDAR, IKBKG, NFKBIA

Compounds for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1eicosapentaenoic acid43 2410.5NFKBIA, BAAT
2arginine438.4NFKBIA, IKBKG, EPHX1, EDA

GO Terms for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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Cellular components related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical part of cellGO:00451779.3EDAR, EDA

Biological processes related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of type I interferon productionGO:003248110.0IKBKG, NFKBIA
2toll-like receptor 5 signaling pathwayGO:003414610.0NFKBIA, IKBKG
3toll-like receptor 10 signaling pathwayGO:003416610.0NFKBIA, IKBKG
4toll-like receptor TLR6:TLR2 signaling pathwayGO:003812410.0IKBKG, NFKBIA
5toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.9IKBKG, NFKBIA
6toll-like receptor 9 signaling pathwayGO:00341629.9NFKBIA, IKBKG
7toll-like receptor 2 signaling pathwayGO:00341349.9NFKBIA, IKBKG
8TRIF-dependent toll-like receptor signaling pathwayGO:00356669.9IKBKG, NFKBIA
9hair follicle developmentGO:00019429.8EDAR, EDARADD
10MyD88-independent toll-like receptor signaling pathwayGO:00027569.8IKBKG, NFKBIA
11epidermis developmentGO:00085449.7EDA2R, EDAR
12MyD88-dependent toll-like receptor signaling pathwayGO:00027559.7IKBKG, NFKBIA
13toll-like receptor 4 signaling pathwayGO:00341429.7NFKBIA, IKBKG
14salivary gland cavitationGO:00606629.7EDAR, EDA
15positive regulation of NF-kappaB import into nucleusGO:00423469.6EDA, EDAR
16pigmentationGO:00434739.6EDAR, EDA
17toll-like receptor 3 signaling pathwayGO:00341389.6NFKBIA, IKBKG
18T cell receptor signaling pathwayGO:00508529.4NFKBIA, IKBKG
19trachea gland developmentGO:00611539.4EDARADD, EDA
20apoptotic processGO:00069159.2NFKBIA, IKBKG, TJP2, EDAR
21odontogenesis of dentin-containing toothGO:00424759.1EDA, EDARADD, EDAR
22positive regulation of NF-kappaB transcription factor activityGO:00510928.7NFKBIA, IKBKG, EDA, EDA2R
23cell differentiationGO:00301548.5EDA2R, EDA, EDARADD, EDAR

Products for genes affiliated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

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  • Antibodies
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  • Lysates
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  • Proteins
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Sources for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type,...

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet