ECTD10B
MCID: ECT062
MIFTS: 66

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

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

MalaCards integrated aliases for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 56 73 13 71
Hypohidrotic Ectodermal Dysplasia 12 74 24 52 25 58 36 29 6 15
Hed 56 52 25 58 73
Christ-Siemens-Touraine Syndrome 12 24 25 71
Anhidrotic Ectodermal Dysplasia 24 52 25 58
Hypohidrotic X-Linked Ectodermal Dysplasia 12 29 6
Ectodermal Dysplasia, Hypohidrotic 56 52 54
Eda 56 52 73
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 43 71
Ectodermal Dysplasia Anhidrotic 52 73
Ectd10b 56 73
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive 39
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 71
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 73
Ectodermal Dysplasia, Hypohidrotic; Hed 56
Ectodermal Dysplasia, Anhidrotic; Eda 56
Dysplasia, Ectodermal, Hypohidrotic 39
Ectodermal Dysplasia 1, Anhydrotic 12
Ectodermal Dysplasia 3, Anhidrotic 71
Anhidrotic Ectodermal Dysplasia 3 12
Ectodermal Dysplasia, Anhidrotic 56
Cst Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (x-linked form )
allelic disorder to autosomal dominant form


HPO:

31
ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


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

Genetics Home Reference : 25 Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Hypohidrotic ectodermal dysplasia is also characterized by several missing teeth (hypodontia) or teeth that are malformed. The teeth that are present erupt from the gums later than usual and are frequently small and pointed. Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition can include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nostrils (ozena). Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia.

MalaCards based summary : Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to hypohidrotic ectodermal dysplasia with immunodeficiency and ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant, and has symptoms including dyspnea, dry skin and spontaneous, recurrent epistaxis. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and Cytokine Signaling in Immune system. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and breast, and related phenotypes are abnormal facial shape and thick vermilion border

Disease Ontology : 12 An ectodermal dysplasia 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).

NIH Rare Diseases : 52 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).

OMIM : 56 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). (224900)

KEGG : 36 Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Wikipedia : 74 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before... more...

GeneReviews: NBK1112

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

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

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

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 285)
# Related Disease Score Top Affiliating Genes
1 hypohidrotic ectodermal dysplasia with immunodeficiency 32.7 NFKBIA IKBKG
2 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.5 TRAF6 KDF1 EDARADD EDAR
3 ectodermal dysplasia 1, hypohidrotic, x-linked 32.4 EDA2R EDA
4 pompholyx 32.3 EDARADD EDAR EDA
5 hypohidrotic ectodermal dysplasia autosomal recessive 32.2 WNT10A EDARADD EDAR
6 sweat gland disease 32.2 EDARADD EDAR EDA
7 witkop syndrome 31.4 PAX9 MSX1 EDAR
8 anhidrosis 30.8 IKBKG EDARADD EDAR EDA
9 tooth size 30.6 PAX9 MSX1
10 immune deficiency disease 30.3 NFKBIA IRAK4 IKBKG ICOSLG FURIN
11 incontinentia pigmenti 30.3 TRAF6 IKBKG EDAR EDA CHUK
12 anodontia 29.5 WNT10A PAX9 MSX1 IKBKG EDARADD EDAR
13 hypotrichosis 29.5 WNT10A KRT83 KRT74 KDF1 ICOSLG EDARADD
14 ectodermal dysplasia 29.4 WNT10A TRAF6 NFKBIA MSX1 KRT74 KDF1
15 tooth agenesis 29.3 WNT10A PAX9 MSX1 KDF1 IKBKG EDARADD
16 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.8
17 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.5
18 deafness with anhidrotic ectodermal dysplasia 12.5
19 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.5
20 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
21 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
22 tooth agenesis, selective, x-linked, 1 11.8
23 breasts and/or nipples, aplasia or hypoplasia of, 1 11.8
24 ectodermal dysplasia and immunodeficiency 1 11.7
25 hypermobile ehlers-danlos syndrome 11.6
26 lelis syndrome 11.6
27 immunodeficiency 33 11.6
28 craniofrontonasal syndrome 11.6
29 ectodermal dysplasia and immunodeficiency 2 11.5
30 clouston syndrome 11.5
31 rapp-hodgkin syndrome 11.5
32 marshall syndrome 11.4
33 breasts and/or nipples, aplasia or hypoplasia of, 2 11.4
34 ectodermal dysplasia 10b 11.3
35 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
36 immunodeficiency without anhidrotic ectodermal dysplasia 11.2
37 ehlers-danlos syndrome, hypermobility type 11.1
38 goodpasture syndrome 11.1
39 alzheimer disease 17 11.1
40 subleukemic leukemia 11.1
41 acute proliferative glomerulonephritis 11.1
42 ureteral disease 11.1
43 seminal vesicle adenocarcinoma 11.1
44 blepharoconjunctivitis 11.1
45 orchitis 11.1
46 syringomyelia 11.1
47 anti-basement membrane glomerulonephritis 11.1
48 ameloonychohypohidrotic syndrome 10.6
49 ankyloblepharon-ectodermal defects-cleft lip/palate 10.6
50 book syndrome 10.6

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 & Phenotypes for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal...

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

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 thick vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0012471
3 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
4 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
5 keratoconjunctivitis sicca 58 31 hallmark (90%) Very frequent (99-80%) HP:0001097
6 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
7 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
8 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
9 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
10 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
11 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
12 hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000962
13 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
14 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
15 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
16 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
17 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
18 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
19 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
20 generalized hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0011358
21 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
22 trichorrhexis nodosa 58 31 frequent (33%) Frequent (79-30%) HP:0009886
23 abnormality of the abdominal wall 58 31 frequent (33%) Frequent (79-30%) HP:0004298
24 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
25 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
26 abnormality of the nail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001597
27 abnormal hair quantity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011362
28 breast aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100783
29 depressed nasal bridge 31 HP:0005280
30 abnormality of the dentition 58 Very frequent (99-80%)
31 everted lower lip vermilion 31 HP:0000232
32 microdontia 31 HP:0000691
33 abnormality of immune system physiology 58 Very frequent (99-80%)
34 hypotrichosis 31 HP:0001006
35 hypodontia 31 HP:0000668
36 inflammatory abnormality of the eye 58 Frequent (79-30%)
37 everted upper lip vermilion 31 HP:0010803
38 anhidrosis 31 HP:0000970
39 sparse eyelashes 31 HP:0000653
40 periorbital wrinkles 31 HP:0000607
41 heat intolerance 31 HP:0002046
42 periorbital hyperpigmentation 31 HP:0001106
43 anodontia 31 HP:0000674
44 sparse and thin eyebrow 31 HP:0000535
45 hypohidrotic ectodermal dysplasia 31 HP:0007607

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing

Skin Nails Hair Skin:
hypohidrosis
anhidrosis

Head And Neck Eyes:
periorbital wrinkles
periorbital hyperpigmentation

Head And Neck Mouth:
prominent lips

Head And Neck Teeth:
microdontia
hypodontia
anodontia
misshapen teeth

Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes and eyebrows

Metabolic Features:
intolerance to heat and fever

Head And Neck Nose:
depressed nasal bridge ('saddle nose')

Clinical features from OMIM:

224900

UMLS symptoms related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:


dyspnea, dry skin, spontaneous, recurrent epistaxis, koilonychia

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 AXIN2 CHUK EDAR EDARADD FOXI3 FURIN
2 craniofacial MP:0005382 10.16 AXIN2 CHUK EDAR EDARADD FOXI3 KDF1
3 digestive/alimentary MP:0005381 10.13 AXIN2 CHUK EDAR FURIN IKBKG KDF1
4 endocrine/exocrine gland MP:0005379 10.1 AXIN2 CHUK EDAR EDARADD IKBKG MSX1
5 integument MP:0010771 10.03 AXIN2 CHUK EDAR EDARADD FOXI3 FURIN
6 hearing/vestibular/ear MP:0005377 9.87 CHUK EDARADD FOXI3 KDF1 MSX1 PAX9
7 limbs/digits/tail MP:0005371 9.85 AXIN2 CHUK EDAR EDARADD FURIN KDF1
8 normal MP:0002873 9.56 AXIN2 EDA2R FOXI3 FURIN IKBKG MSX1
9 skeleton MP:0005390 9.28 AXIN2 CHUK EDAR EDARADD FOXI3 MSX1

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

Drugs for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Immunoglobulins Phase 2
3 Immunoglobulin Fc Fragments Phase 2
4 Antibodies Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Open-label, Dose-escalation Study to Evaluate the Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200, an EDA-A1 Replacement Protein, Administered to Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
2 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200, an Ectodysplasin-A1 Replacement Molecule, in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Adults Completed NCT01564225 Phase 1 EDI200
3 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
4 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
5 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
6 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
7 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940
8 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
9 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
10 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
11 Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls Completed NCT01109290
12 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
13 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
15 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
16 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
17 A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by X-Linked Hypohidrotic XLHED Ectodermal Dysplasia (XLHED) Withdrawn NCT03912792

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

Cochrane evidence based reviews: ectodermal dysplasia, hypohidrotic, autosomal recessive

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

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

# Genetic test Affiliating Genes
1 Hypohidrotic X-Linked Ectodermal Dysplasia 29 EDA
2 Hypohidrotic Ectodermal Dysplasia 29

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

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

40
Skin, Eye, Breast, Testes, T Cells, Liver, Heart

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

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

(show top 50) (show all 651)
# Title Authors PMID Year
1
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 54 61 24 56 6
18231121 2008
2
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. 54 61 24 56 6
15373768 2004
3
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 61 24 56 6
10431241 1999
4
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 24 56 6
18816645 2008
5
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 54 61 56 6
16029325 2005
6
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 54 61 24 6
11780064 2001
7
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). 54 61 24 6
11047757 2000
8
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 54 24 6
17354266 2007
9
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. 61 24 6
12949972 2003
10
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. 54 24 6
9736768 1998
11
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 61 24 6
9683615 1998
12
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. 61 24 6
9507389 1998
13
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 24 56
20979233 2011
14
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. 24 6
18412279 2008
15
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. 54 61 6
17066260 2006
16
A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. 54 61 6
16228229 2005
17
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. 54 61 6
11378824 2001
18
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. 24 6
11242109 2001
19
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. 61 6
26991760 2016
20
A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia. 61 6
22889853 2012
21
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. 54 61 24
20222921 2010
22
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. 61 6
19533796 2009
23
A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation. 54 6
16379012 2006
24
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 54 61 24
16435307 2006
25
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. 54 6
14523047 2003
26
Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. 54 61 24
12651765 2003
27
Hypohidrotic Ectodermal Dysplasia 61 6
20301291 2003
28
Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. 61 6
12045264 2002
29
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). 61 6
11484156 2001
30
Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia. 54 61 24
11416205 2001
31
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. 54 6
9856856 1998
32
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. 61 6
9245989 1997
33
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. 61 6
8696334 1996
34
Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. 61 56
5101443 1971
35
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. 61 56
5440468 1970
36
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. 6
30422821 2019
37
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation. 6
29948576 2018
38
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA. 6
28417298 2017
39
Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA. 6
26888281 2016
40
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. 61 24
26440664 2016
41
X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry. 61 24
24664614 2014
42
Future developments in XLHED treatment approaches. 61 24
24678015 2014
43
Anhidrotic ectodermal dysplasia: a new mutation. 6
23870671 2013
44
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. 6
23864385 2013
45
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. 6
23708964 2013
46
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. 61 24
23553579 2013
47
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. 61 24
23687000 2013
48
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. 61 24
23210707 2013
49
Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. 61 24
23522427 2013
50
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 61 24
23401279 2013

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

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

6 (show top 50) (show all 170) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDA NM_001399.4(EDA):c.(?_397)_(502_?)del (p.(?))deletion Pathogenic 179325 X:69176877-69176982 X:69957027-69957132
2 EDA NM_001399.4(EDA):c.(?_707)_(741_?)del (p.(?))deletion Pathogenic 228340 X:69249354-69249388 X:70029504-70029538
3 EDA NM_001399.5(EDA):c.396+2T>GSNV Pathogenic 179360 rs727504814 X:68836550-68836550 X:69616706-69616706
4 EDA NM_001399.5(EDA):c.502+1G>ASNV Pathogenic 179641 rs727505013 X:69176983-69176983 X:69957133-69957133
5 EDA NM_001399.5(EDA):c.766C>T (p.Gln256Ter)SNV Pathogenic 177947 rs727504417 X:69250343-69250343 X:70030493-70030493
6 EDA NM_001399.5(EDA):c.809del (p.Val270fs)deletion Pathogenic 163320 rs727503008 X:69253263-69253263 X:70033413-70033413
7 EDA NM_001399.5(EDA):c.991C>T (p.Gln331Ter)SNV Pathogenic 163324 rs727503011 X:69255274-69255274 X:70035424-70035424
8 EDA NM_001399.4(EDA):c.(?_-115)_(174_?)deldeletion Pathogenic 180114 X:68836038-68836326 X:69616194-69616482
9 EDA NM_001399.4(EDA):c.(?_397-304)_(460_?)deldeletion Pathogenic 163306 X:69176573-69176940 X:69956723-69957090
10 EDA NM_001399.4(EDA):c.(?_503)-88_(1176_?)deldeletion Pathogenic 163308 X:69242980-69255459 X:70023130-70035609
11 EDA NM_001399.4(EDA):c.(?_925)_(1176_?)del (p.(?))deletion Pathogenic 179326 X:69255208-69255459 X:70035358-70035609
12 EDA NM_001399.5(EDA):c.132_135dup (p.Phe46fs)duplication Pathogenic 179733 rs727505089 X:68836282-68836283 X:69616438-69616439
13 EDA NM_001399.5(EDA):c.396+1G>ASNV Pathogenic 178916 rs727504537 X:68836549-68836549 X:69616705-69616705
14 EDA NM_001399.5(EDA):c.474A>C (p.Lys158Asn)SNV Pathogenic 179127 rs727504649 X:69176954-69176954 X:69957104-69957104
15 EDA NM_001399.5(EDA):c.676C>T (p.Gln226Ter)SNV Pathogenic 163315 rs727503007 X:69247856-69247856 X:70028006-70028006
16 EDA NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)deletion Pathogenic 228337 rs876657685 X:69247828-69247863 X:70027973-70028008
17 EDA NM_001399.5(EDA):c.319_322dup (p.Gln108fs)duplication Pathogenic 228336 rs876657684 X:68836470-68836471 X:69616626-69616627
18 EDA NM_001399.5(EDA):c.822G>A (p.Trp274Ter)SNV Pathogenic 163321 rs397516675 X:69253276-69253276 X:70033426-70033426
19 EDA NM_001399.5(EDA):c.948del (p.Phe317fs)deletion Pathogenic 163323 rs727503010 X:69255231-69255231 X:70035381-70035381
20 EDA NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)SNV Pathogenic 228339 rs876657687 X:69255243-69255243 X:70035393-70035393
21 EDAR NM_022336.4(EDAR):c.52-25_52-8deldeletion Pathogenic 5848 rs1558814967 2:109546706-109546723 2:108930250-108930267
22 EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His)SNV Pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288
23 EDAR EDAR, DELdeletion Pathogenic 5850
24 EDAR NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)SNV Pathogenic 5852 rs121908452 2:109513638-109513638 2:108897182-108897182
25 EDAR NM_022336.4(EDAR):c.51+1G>ASNV Pathogenic 5854 rs797044435 2:109547419-109547419 2:108930963-108930963
26 EDAR NM_022336.4(EDAR):c.1124G>A (p.Arg375His)SNV Pathogenic 5855 rs121908454 2:109513586-109513586 2:108897130-108897130
27 EDAR NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)SNV Pathogenic 5856 rs121908455 2:109545681-109545681 2:108929225-108929225
28 EDARADD NM_080738.4(EDARADD):c.424G>A (p.Glu142Lys)SNV Pathogenic 4188 rs74315309 1:236645755-236645755 1:236482455-236482455
29 EDAR NM_022336.4(EDAR):c.803+1G>ASNV Pathogenic 5860 rs797044437 2:109526915-109526915 2:108910459-108910459
30 EDA NM_001399.5(EDA):c.67C>T (p.Gln23Ter)SNV Pathogenic 11033 rs132630310 X:68836219-68836219 X:69616375-69616375
31 EDA NM_001399.5(EDA):c.187G>A (p.Glu63Lys)SNV Pathogenic 11034 rs132630311 X:68836339-68836339 X:69616495-69616495
32 EDA NM_001399.5(EDA):c.463C>T (p.Arg155Cys)SNV Pathogenic 11035 rs132630312 X:69176943-69176943 X:69957093-69957093
33 EDA NM_001399.5(EDA):c.466C>T (p.Arg156Cys)SNV Pathogenic 11036 rs132630313 X:69176946-69176946 X:69957096-69957096
34 EDA NM_001399.5(EDA):c.467G>A (p.Arg156His)SNV Pathogenic 11037 rs132630314 X:69176947-69176947 X:69957097-69957097
35 EDA NM_001399.5(EDA):c.671G>C (p.Gly224Ala)SNV Pathogenic 11039 rs132630316 X:69247851-69247851 X:70028001-70028001
36 EDA NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)SNV Pathogenic 11040 rs132630317 X:69255328-69255328 X:70035478-70035478
37 EDA NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)SNV Pathogenic 11041 rs132630318 X:68836335-68836335 X:69616491-69616491
38 EDA EDA, 36-BP DEL, EX5deletion Pathogenic 11042
39 EDA EDA, 1-BP DEL, EX6deletion Pathogenic 11043
40 EDA NM_001399.5(EDA):c.573_574insT (p.Gly192fs)insertion Pathogenic 11046 rs1569404873 X:69247753-69247754 X:70027903-70027904
41 EDA NM_001399.5(EDA):c.910_911TA[3] (p.Ser305fs)short repeat Pathogenic 11047 rs1569406514 X:69253363-69253364 X:70033513-70033514
42 EDA NM_001399.5(EDA):c.826C>T (p.Arg276Cys)SNV Pathogenic 31908 rs387907197 X:69253280-69253280 X:70033430-70033430
43 EDA NM_001399.5(EDA):c.272dup (p.Ser91fs)duplication Pathogenic 44187 rs397516656 X:68836423-68836424 X:69616579-69616580
44 EDA NM_001399.5(EDA):c.2T>C (p.Met1Thr)SNV Pathogenic 44190 rs397516659 X:68836154-68836154 X:69616310-69616310
45 EDA NM_001399.5(EDA):c.329C>A (p.Ser110Ter)SNV Pathogenic 44191 rs397516660 X:68836481-68836481 X:69616637-69616637
46 EDA NM_001399.5(EDA):c.347T>A (p.Leu116Ter)SNV Pathogenic 44192 rs397516661 X:68836499-68836499 X:69616655-69616655
47 EDA NM_001399.5(EDA):c.457C>T (p.Arg153Cys)SNV Pathogenic 44193 rs397516662 X:69176937-69176937 X:69957087-69957087
48 EDA NM_001399.5(EDA):c.467G>T (p.Arg156Leu)SNV Pathogenic 44194 rs132630314 X:69176947-69176947 X:69957097-69957097
49 EDA NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)deletion Pathogenic 44197 rs397516665 X:69247726-69247761 X:70027866-70027901
50 EDA NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)deletion Pathogenic 44198 rs397516666 X:69247733-69247768 X:70027877-70027912

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

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 EDAR p.Cys87Arg VAR_013448 rs121908451
2 EDAR p.Arg89His VAR_013449 rs121908450
3 EDAR p.Arg420Gln VAR_013450 rs121908453
4 EDAR p.Cys47Tyr VAR_054444 rs778903951
5 EDAR p.Asp110Ala VAR_054445 rs121908455
6 EDAR p.Cys148Arg VAR_054446
7 EDAR p.Arg375His VAR_054447 rs121908454
8 EDAR p.Leu377Phe VAR_054448
9 EDAR p.Gly382Ser VAR_054449 rs747806672
10 EDAR p.Thr403Met VAR_054450
11 EDAR p.Thr413Pro VAR_054451
12 EDAR p.Ile418Thr VAR_054452
13 EDAR p.Trp434Cys VAR_054453 rs528478080
14 EDAR p.Arg98Gln VAR_064830 rs144473052
15 EDAR p.Arg358Gln VAR_064831 rs886039564
16 EDAR p.Ile408Phe VAR_064833
17 EDAR p.Trp434Arg VAR_064834 rs773885029

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

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

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

Pathways related to Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to KEGG:

36
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060

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

(show top 50) (show all 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 TRAF6 IRAK4 IKBKG EDARADD EDAR EDA2R
2
Show member pathways
12.91 TRAF6 NFKBIA IRAK4 IKBKG CHUK
3
Show member pathways
12.81 TRAF6 NFKBIA IRAK4 IKBKG CHUK
4 12.81 WNT10A TRAF6 NFKBIA IKBKG CHUK AXIN2
5
Show member pathways
12.79 TRAF6 NFKBIA IKBKG CHUK AXIN2
6 12.78 TRAF6 NFKBIA IRAK4 IKBKG CHUK
7
Show member pathways
12.67 TRAF6 NFKBIA IRAK4 IKBKG CHUK
8 12.55 TRAF6 NFKBIA IRAK4 IKBKG CHUK
9
Show member pathways
12.42 TRAF6 NFKBIA IKBKG CHUK
10
Show member pathways
12.41 TRAF6 NFKBIA IKBKG CHUK
11
Show member pathways
12.41 TRAF6 NFKBIA IKBKG CHUK
12
Show member pathways
12.4 TRAF6 NFKBIA IRAK4 IKBKG CHUK
13
Show member pathways
12.39 TRAF6 NFKBIA IKBKG CHUK
14
Show member pathways
12.37 NFKBIA IKBKG ICOSLG CHUK
15 12.36 TRAF6 NFKBIA IKBKG CHUK
16
Show member pathways
12.33 TRAF6 NFKBIA IKBKG CHUK
17 12.31 NFKBIA MSX1 IKBKG CHUK
18
Show member pathways
12.3 TRAF6 NFKBIA IKBKG CHUK
19
Show member pathways
12.3 TRAF6 NFKBIA IRAK4 IKBKG CHUK
20
Show member pathways
12.27 TRAF6 NFKBIA IRAK4 IKBKG CHUK
21 12.26 TRAF6 NFKBIA IRAK4 IKBKG CHUK
22
Show member pathways
12.22 TRAF6 NFKBIA IRAK4 IKBKG CHUK
23
Show member pathways
12.21 TRAF6 NFKBIA IRAK4 IKBKG CHUK
24
Show member pathways
12.18 TRAF6 NFKBIA FURIN CHUK
25 12.17 TRAF6 NFKBIA IRAK4 IKBKG CHUK
26
Show member pathways
12.14 TRAF6 NFKBIA IRAK4 IKBKG CHUK
27 12.1 TRAF6 NFKBIA IKBKG CHUK
28
Show member pathways
12.09 TRAF6 NFKBIA IRAK4 IKBKG EDAR EDA2R
29
Show member pathways
12.07 TRAF6 NFKBIA IRAK4 IKBKG CHUK
30 12.03 TRAF6 NFKBIA IKBKG CHUK
31
Show member pathways
11.99 NFKBIA IKBKG CHUK
32 11.99 NFKBIA IKBKG CHUK
33
Show member pathways
11.95 TRAF6 IKBKG CHUK
34
Show member pathways
11.94 TRAF6 NFKBIA CHUK
35 11.94 NFKBIA IKBKG CHUK
36
Show member pathways
11.92 TRAF6 IKBKG CHUK
37 11.88 TRAF6 NFKBIA IRAK4 IKBKG CHUK
38
Show member pathways
11.86 TRAF6 NFKBIA IKBKG CHUK
39 11.85 TRAF6 NFKBIA IKBKG CHUK
40
Show member pathways
11.79 NFKBIA IKBKG CHUK
41
Show member pathways
11.69 TRAF6 NFKBIA IKBKG CHUK
42 11.68 NFKBIA IKBKG CHUK
43 11.66 NFKBIA IRAK4 CHUK
44
Show member pathways
11.63 TRAF6 NFKBIA CHUK
45
Show member pathways
11.6 TRAF6 IKBKG FURIN CHUK
46
Show member pathways
11.52 NFKBIA IKBKG CHUK
47 11.47 TRAF6 NFKBIA IKBKG CHUK
48 11.43 NFKBIA IKBKG CHUK
49
Show member pathways
11.41 NFKBIA IKBKG CHUK
50 11.29 TRAF6 NFKBIA IRAK4 IKBKG EDARADD EDAR

GO Terms for Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal...

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

# Name GO ID Score Top Affiliating Genes
1 CD40 receptor complex GO:0035631 8.96 TRAF6 CHUK
2 IkappaB kinase complex GO:0008385 8.62 IKBKG CHUK

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.02 KDF1 FOXI3 EDARADD EDAR EDA2R EDA
2 multicellular organism development GO:0007275 9.97 WNT10A PAX9 MSX1 KDF1 EDARADD EDAR
3 T cell receptor signaling pathway GO:0050852 9.81 TRAF6 IKBKG ICOSLG CHUK
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.77 TRAF6 IKBKG EDA2R EDA CHUK
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.75 TRAF6 IKBKG CHUK
6 cornification GO:0070268 9.74 KRT83 KRT74 FURIN
7 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.73 TRAF6 NFKBIA IKBKG CHUK
8 epidermis development GO:0008544 9.71 KRT83 EDAR EDA2R
9 odontogenesis of dentin-containing tooth GO:0042475 9.71 TRAF6 MSX1 EDAR EDA
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.7 TRAF6 EDAR EDA
11 JNK cascade GO:0007254 9.67 TRAF6 IRAK4 IKBKG
12 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.58 IKBKG CHUK
13 toll-like receptor 9 signaling pathway GO:0034162 9.56 TRAF6 IRAK4
14 odontogenesis GO:0042476 9.56 WNT10A PAX9 MSX1 AXIN2
15 interleukin-1-mediated signaling pathway GO:0070498 9.55 TRAF6 NFKBIA IRAK4 IKBKG CHUK
16 salivary gland cavitation GO:0060662 9.48 EDAR EDA
17 regulation of odontogenesis GO:0042481 9.46 PAX9 MSX1
18 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 NFKBIA EDARADD EDAR EDA2R EDA CHUK
19 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.17 TRAF6 IRAK4 IKBKG EDAR EDA2R EDA

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.92 TRAF6 NFKBIA IKBKG AXIN2

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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