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ECTD10B
MCID: ECT062
MIFTS: 67

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

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

Name: Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 57 73 28 5 71
Hypohidrotic Ectodermal Dysplasia 11 24 19 42 58 75 28 5 14 33
Anhidrotic Ectodermal Dysplasia 24 19 42 58 33
Hed 57 19 42 58 73
Ectodermal Dysplasia, Hypohidrotic 57 19 53
Christ-Siemens-Touraine Syndrome 24 42 71
Eda 57 19 73
Ectodermal Dysplasia Anhidrotic 19 73
Ectd10b 57 73
Dysplasia, Ectodermal, Type 10b, Hypohidrotic/hair/tooth, Autosomal Recessive 38
Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 71
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 71
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 73
Dysplasia, Ectodermal, Hypohidrotic 38
Ectodermal Dysplasia 3, Anhidrotic 71
Ectodermal Dysplasia, Anhidrotic 57
Cst Syndrome 42

Characteristics:


Inheritance:

Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive: Autosomal recessive 57
Hypohidrotic Ectodermal Dysplasia: Autosomal dominant,Autosomal recessive,X-linked recessive 58

Prevelance:

Hypohidrotic Ectodermal Dysplasia: 1-9/100000 (Europe) 58

Age Of Onset:

Hypohidrotic Ectodermal Dysplasia: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity (x-linked form )
allelic disorder to autosomal dominant form


GeneReviews:

24
Penetrance Penetrance is not well described for most ectodermal dysplasias.

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Skin diseases Oral diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

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

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MedlinePlus Genetics: 42 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 immunodeficiency 33 and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including dry skin, dyspnea 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 Innate Immune System and Signal Transduction. The drugs Immunoglobulins, Intravenous 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

OMIM®: 57 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) (Updated 08-Dec-2022)

GARD: 19 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 genetic changes 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.

Disease Ontology: 11 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).

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.

Wikipedia: 75 Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before... more...

GeneReviews: NBK1112
Sources

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

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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 371)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 33 32.5 IRAK4 IKBKG
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 32.5 EDARADD EDAR
3 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 32.4 WNT10A RANBP2 EDARADD EDAR EDA2R
4 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 32.3 TRAF6 RANBP2 PAX9 KDF1 EDARADD EDAR
5 hypohidrotic ectodermal dysplasia with immunodeficiency 32.0 NFKBIA IKBKG
6 hypohidrotic ectodermal dysplasia autosomal recessive 31.9 WNT10A RANBP2 EDARADD EDAR
7 ectodermal dysplasia 10b 31.8 PAX9 EDARADD EDAR EDA2R EDA
8 paraurethral gland cancer 31.8 EDAR EDA
9 tooth agenesis, selective, 1 31.8 PAX9 MSX1 EDA
10 pompholyx 31.8 EDARADD EDAR EDA
11 sweat gland disease 31.8 EDARADD EDAR EDA
12 toxicodendron dermatitis 31.7 IKBKG EDA
13 schopf-schulz-passarge syndrome 31.7 WNT10A PAX9 EDARADD EDAR EDA
14 ectodermal dysplasia 4, hair/nail type 31.7 KRT74 EDARADD EDAR EDA
15 hair disease 31.7 KRT74 EDARADD EDAR EDA
16 atrophic rhinitis 31.5 EDARADD EDA
17 ectodermal dysplasia 1, hypohidrotic, x-linked 31.5 WNT10A TRAF6 PAX9 MSX1 KDF1 IKBKG
18 anhidrosis 30.5 EDARADD EDAR EDA
19 incontinentia pigmenti 30.3 TRAF6 IKBKG EDAR EDA CHUK
20 immune deficiency disease 30.2 NFKBIA IRAK4 IKBKG FURIN CHUK
21 hypotrichosis 30.0 WNT10A KRT74 KDF1 EDARADD EDAR EDA
22 ectodermal dysplasia 30.0 WNT10A TRAF6 RANBP2 NFKBIA MSX1 KRT74
23 anodontia 29.7 WNT10A PAX9 MSX1 KDF1 IKBKG EDARADD
24 tooth agenesis 29.6 WNT10A SOSTDC1 RANBP2 PAX9 MSX1 KDF1
25 immunodeficiency without anhidrotic ectodermal dysplasia 11.6
26 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.5
27 lelis syndrome 11.4
28 deafness with anhidrotic ectodermal dysplasia 11.3
29 rapp-hodgkin syndrome 11.3
30 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.3
31 ectodermal dysplasia and immune deficiency 11.3
32 dolichonychia 11.2
33 marshall syndrome 11.2
34 breasts and/or nipples, aplasia or hypoplasia of, 2 11.2
35 ectodermal dysplasia and immunodeficiency 1 11.2
36 tooth agenesis, selective, x-linked, 1 11.1
37 craniofrontonasal syndrome 11.0
38 clouston syndrome 11.0
39 ectodermal dysplasia and immunodeficiency 2 11.0
40 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
41 dermatitis 10.5
42 miliaria profunda 10.3 EDARADD EDAR
43 breasts and/or nipples, aplasia or hypoplasia of, 1 10.3
44 dermatitis, atopic 10.3
45 hypothyroidism 10.3
46 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
47 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
48 nail disorder, nonsyndromic congenital, 9 10.3
49 fetal encasement syndrome 10.3 KDF1 IKBKG CHUK
50 ameloonychohypohidrotic syndrome 10.3

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
Sources

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

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

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001999
2 thick vermilion border 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012471
3 dry skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000958
4 abnormality of dental morphology 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0006482
5 hypoplasia of the maxilla 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000327
6 keratoconjunctivitis sicca 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001097
7 irregular hyperpigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0007400
8 thin skin 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000963
9 tooth agenesis 30 Hallmark (90%) HP:0009804
10 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002007
11 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000463
12 sinusitis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000246
13 hyperkeratosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000962
14 hypohidrosis 58 30 Very rare (1%) Frequent (79-30%)
 HP:0000966
15 nephrotic syndrome 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000100
16 cough 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012735
17 eczema 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000964
18 aplasia/hypoplasia of the eyebrow 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100840
19 generalized hypopigmentation of hair 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011358
20 trichorrhexis nodosa 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009886
21 xerostomia 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000217
22 slow-growing hair 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002217
23 abnormality of the abdominal wall 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004298
24 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001508
25 cognitive impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100543
26 abnormality of the nail 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001597
27 abnormal hair quantity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0011362
28 breast aplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100783
29 depressed nasal bridge 30 Very rare (1%) HP:0005280
30 microdontia 30 Very rare (1%) HP:0000691
31 sparse eyebrow 30 Very rare (1%) HP:0045075
32 sparse eyelashes 30 Very rare (1%) HP:0000653
33 oligodontia 30 Very rare (1%) HP:0000677
34 conical tooth 30 Very rare (1%) HP:0000698
35 heat intolerance 30 Very rare (1%) HP:0002046
36 periorbital wrinkles 30 Very rare (1%) HP:0000607
37 periorbital hyperpigmentation 30 Very rare (1%) HP:0001106
38 abnormality of the dentition 58 Very frequent (99-80%)
39 everted lower lip vermilion 30 HP:0000232
40 abnormality of immune system physiology 58 Very frequent (99-80%)
41 reduced number of teeth 58 Very frequent (99-80%)
42 hypodontia 30 HP:0000668
43 everted upper lip vermilion 30 HP:0010803
44 inflammatory abnormality of the eye 58 Frequent (79-30%)
45 anhidrosis 30 HP:0000970
46 anodontia 30 HP:0000674
47 hypohidrotic ectodermal dysplasia 30 HP:0007607

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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


dry skin; dyspnea; spontaneous, recurrent epistaxis; koilonychia

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

25 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.62 RANBP2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.62 RANBP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.62 IRAK4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.62 CHUK IKBKG
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.62 IRAK4
6 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.62 CHUK IKBKG
7 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.62 RANBP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.62 RANBP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.62 IKBKG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.62 IKBKG
11 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.62 RANBP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.62 IKBKG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.62 CHUK
14 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.62 IKBKG
15 Increased shRNA abundance (Z-score > 2) GR00366-A-59 9.62 RANBP2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.62 CHUK
17 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.62 CHUK
18 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.62 RANBP2

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

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 AXIN2 CHUK EDA EDAR EDARADD FOXI3
2 endocrine/exocrine gland MP:0005379 10.32 AXIN2 CHUK EDA EDAR EDARADD FURIN
3 nervous system MP:0003631 10.31 AXIN2 CHUK EDA EDARADD FOXI3 FURIN
4 limbs/digits/tail MP:0005371 10.26 AXIN2 CHUK EDA EDAR EDARADD FURIN
5 digestive/alimentary MP:0005381 10.23 AXIN2 CHUK EDA EDAR FURIN IKBKG
6 cellular MP:0005384 10.22 AXIN2 CHUK EDAR FOXI3 FURIN IKBKG
7 craniofacial MP:0005382 10.21 AXIN2 CHUK EDA EDAR EDARADD FOXI3
8 normal MP:0002873 10.15 AXIN2 EDA2R FOXI3 FURIN IKBKG MSX1
9 cardiovascular system MP:0005385 10.15 AXIN2 CHUK EDA EDAR FURIN GJB6
10 hearing/vestibular/ear MP:0005377 10.11 CHUK EDARADD FOXI3 GJB6 KDF1 MSX1
11 reproductive system MP:0005389 10.02 AXIN2 CHUK EDA EDARADD FURIN IKBKG
12 skeleton MP:0005390 10 AXIN2 CHUK EDA EDAR EDARADD FOXI3
13 pigmentation MP:0001186 9.96 EDA EDAR EDARADD IKBKG TRAF6
14 mortality/aging MP:0010768 9.83 AXIN2 CHUK EDA EDAR EDARADD FOXI3
15 vision/eye MP:0005391 9.81 AXIN2 CHUK EDA EDAR EDARADD MSX1
16 integument MP:0010771 9.47 AXIN2 CHUK EDA EDAR EDARADD FOXI3
Sources

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

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins, Intravenous Phase 2
2 Immunoglobulins Phase 2
3 Immunoglobulin G Phase 2
4 Antibodies Phase 2
5
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
6 Antioxidants
7 Protective Agents

Interventional clinical trials:

(show all 19)
# 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 Prospective, Open-label, Genotype-match Controlled, Multicenter Clinical Trial to Investigate the Efficacy and Safety of Intra-amniotic ER004 as a Prenatal Treatment for Male Subjects With XLHED Recruiting NCT04980638 Phase 2
3 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
4 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
5 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
6 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
7 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
8 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
9 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
10 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
12 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
13 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
15 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
16 SARS-CoV-2 Infections in Children and Adolescents: Course of COVID-19, Immune Responses, Complications and Long-term Consequences in Entire Households With Members Younger Than 18 Years Completed NCT04741412
17 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
18 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
19 Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia Not yet recruiting NCT05378932

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

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

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

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 28 EDAR EDARADD
2 Hypohidrotic Ectodermal Dysplasia 28
Sources

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

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

MalaCards : Skin, Eye, Breast, Salivary Gland, Bone, Skeletal Muscle, Trachea
Sources

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

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

(show top 50) (show all 1063)
# Title Authors PMID Year
1
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 53 62 24 57 5
18231121 2008
2
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 62 24 57 5
10431241 1999
3
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 24 57 5
18816645 2008
4
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 53 62 57 5
16029325 2005
5
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. 53 62 57 5
15373768 2004
6
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 53 62 24 5
16435307 2006
7
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 62 24 57
20979233 2011
8
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. 62 5
22032522 2012
9
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 53 62 24
11780064 2001
10
Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. 62 57
9863606 1998
11
Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recessive inheritance. 62 57
5101443 1971
12
Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity. 62 57
5440468 1970
13
Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred. 62 57
5984977 1966
14
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia. 62 24
34219261 2021
15
Lrp6 Dynamic Expression in Tooth Development and Mutations in Oligodontia. 62 24
33164649 2021
16
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. 62 24
32250462 2020
17
LEF1 haploinsufficiency causes ectodermal dysplasia. 62 24
32022899 2020
18
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study. 62 24
31924237 2020
19
First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia. 62 24
30022538 2019
20
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. 62 24
29694819 2018
21
Automatic recognition of the XLHED phenotype from facial images. 62 24
28691769 2017
22
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. 62 24
26440664 2016
23
Future developments in XLHED treatment approaches. 62 24
24678015 2014
24
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. 62 24
23553579 2013
25
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. 62 24
23687000 2013
26
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. 62 24
23210707 2013
27
Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. 62 24
23522427 2013
28
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 62 24
23401279 2013
29
A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. 62 24
22296312 2012
30
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations. 62 24
21457804 2011
31
Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. 62 24
21357618 2011
32
Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. 62 24
20682465 2010
33
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. 62 24
18384562 2008
34
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. 62 24
18510547 2008
35
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia. 62 24
17181574 2007
36
Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. 62 24
15262696 2004
37
Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia. 62 24
10677098 2000
38
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 62 24
9683615 1998
39
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
40
WNT10A, dermatology and dentistry. 24
34184264 2021
41
Analyses of oligodontia phenotypes and genetic etiologies. 24
34593752 2021
42
Functional Effects of WNT10A Rare Variants Associated with Tooth Agenesis. 24
33034246 2021
43
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
44
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. 24
30703280 2019
45
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
46
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency. 24
27881089 2016
47
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. 24
26964878 2016
48
Timing, rates and spectra of human germline mutation. 24
26656846 2016
49
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
50
The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. 24
24700731 2014
Sources

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

About this section

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

5 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) SNV Pathogenic
 4462 rs121908120 GRCh37: 2:219755011-219755011
GRCh38: 2:218890289-218890289
2 RANBP2, EDAR NM_022336.4(EDAR):c.52-25_52-8del DEL Pathogenic
 5848 rs1558814967 GRCh37: 2:109546706-109546723
GRCh38: 2:108930250-108930267
3 RANBP2, EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His) SNV Pathogenic
 5849 rs121908450 GRCh37: 2:109545744-109545744
GRCh38: 2:108929288-108929288
4 EDAR EDAR, DEL DEL Pathogenic
 5850 GRCh37:
GRCh38:
5 RANBP2, EDAR NM_022336.4(EDAR):c.51+1G>A SNV Pathogenic
 5854 rs797044435 GRCh37: 2:109547419-109547419
GRCh38: 2:108930963-108930963
6 RANBP2, EDAR NM_022336.4(EDAR):c.1124G>A (p.Arg375His) SNV Pathogenic
 5855 rs121908454 GRCh37: 2:109513586-109513586
GRCh38: 2:108897130-108897130
7 RANBP2, EDAR NM_022336.4(EDAR):c.329A>C (p.Asp110Ala) SNV Pathogenic
 5856 rs121908455 GRCh37: 2:109545681-109545681
GRCh38: 2:108929225-108929225
8 RANBP2, EDAR NM_022336.4(EDAR):c.803+1G>A SNV Pathogenic
 5860 rs797044437 GRCh37: 2:109526915-109526915
GRCh38: 2:108910459-108910459
9 RANBP2, EDAR NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) SNV Pathogenic
 522911 rs1553448320 GRCh37: 2:109545732-109545732
GRCh38: 2:108929276-108929276
10 RANBP2, EDAR NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs) INDEL Pathogenic
 633838 rs1558814135 GRCh37: 2:109545803-109545803
GRCh38: 2:108929347-108929347
11 RANBP2, EDAR NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly) SNV Pathogenic
 633839 rs773885029 GRCh37: 2:109513410-109513410
GRCh38: 2:108896954-108896954
12 RANBP2, EDAR NM_022336.4(EDAR):c.204del (p.Tyr69fs) DEL Pathogenic
 996823 rs1697322263 GRCh37: 2:109545806-109545806
GRCh38: 2:108929350-108929350
13 RANBP2, EDAR NM_022336.4(EDAR):c.93C>A (p.Cys31Ter) SNV Pathogenic
 828108 rs749688157 GRCh37: 2:109546657-109546657
GRCh38: 2:108930201-108930201
14 RANBP2, EDAR NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) SNV Pathogenic/Likely Pathogenic
 532549 rs557166582 GRCh37: 2:109545718-109545718
GRCh38: 2:108929262-108929262
15 RANBP2, EDAR NM_022336.4(EDAR):c.719_722del (p.Lys240fs) MICROSAT Pathogenic/Likely Pathogenic
 5859 rs797044436 GRCh37: 2:109527240-109527243
GRCh38: 2:108910784-108910787
16 RANBP2, EDAR NM_022336.4(EDAR):c.442T>C (p.Cys148Arg) SNV Likely Pathogenic
 998077 rs1181378221 GRCh37: 2:109539824-109539824
GRCh38: 2:108923368-108923368
17 RANBP2, EDAR NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) SNV Uncertain Significance
 641915 rs1574385383 GRCh37: 2:109545682-109545682
GRCh38: 2:108929226-108929226
18 RANBP2, EDAR NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) SNV Uncertain Significance
Uncertain Significance
 5851 rs121908451 GRCh37: 2:109545751-109545751
GRCh38: 2:108929295-108929295
19 RANBP2 and overlap with 2 gene(s) NC_000002.11:g.(?_109336043)_(109579739_?)dup DUP Uncertain Significance
 655229 GRCh37: 2:109336043-109579739
GRCh38: 2:108719587-108963283
20 RANBP2 and overlap with 2 gene(s) NC_000002.11:g.(?_109367964)_(109579739_?)dup DUP Uncertain Significance
 657900 GRCh37: 2:109367964-109579739
GRCh38: 2:108751508-108963283
21 EDARADD NM_145861.4(EDARADD):c.*558C>T SNV Uncertain Significance
 875147 rs1309549108 GRCh37: 1:236646507-236646507
GRCh38: 1:236483207-236483207
22 EDARADD NM_145861.4(EDARADD):c.*1962C>T SNV Uncertain Significance
 875207 rs111987152 GRCh37: 1:236647911-236647911
GRCh38: 1:236484611-236484611
23 EDARADD NM_145861.4(EDARADD):c.*1072C>T SNV Uncertain Significance
 877063 rs988277282 GRCh37: 1:236647021-236647021
GRCh38: 1:236483721-236483721
24 RANBP2, EDAR NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) SNV Uncertain Significance
 330708 rs376622302 GRCh37: 2:109527288-109527288
GRCh38: 2:108910832-108910832
25 RANBP2, EDAR NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) SNV Uncertain Significance
 862820 rs770872155 GRCh37: 2:109526917-109526917
GRCh38: 2:108910461-108910461
26 RANBP2, EDAR NM_022336.4(EDAR):c.-4G>A SNV Uncertain Significance
 330713 rs886054745 GRCh37: 2:109547474-109547474
GRCh38: 2:108931018-108931018
27 RANBP2, EDAR NM_022336.4(EDAR):c.*976A>G SNV Uncertain Significance
 894490 rs142529386 GRCh37: 2:109512387-109512387
GRCh38: 2:108895931-108895931
28 RANBP2, EDAR NM_022336.4(EDAR):c.*867A>G SNV Uncertain Significance
 894491 rs967989414 GRCh37: 2:109512496-109512496
GRCh38: 2:108896040-108896040
29 RANBP2, EDAR NM_022336.4(EDAR):c.*791A>T SNV Uncertain Significance
 894492 rs1696582725 GRCh37: 2:109512572-109512572
GRCh38: 2:108896116-108896116
30 RANBP2, EDAR NM_022336.4(EDAR):c.1029T>C (p.Leu343=) SNV Uncertain Significance
 894528 rs1020417678 GRCh37: 2:109513681-109513681
GRCh38: 2:108897225-108897225
31 RANBP2, EDAR NM_022336.4(EDAR):c.849C>A (p.Ser283Arg) SNV Uncertain Significance
 894530 rs145796324 GRCh37: 2:109524430-109524430
GRCh38: 2:108907974-108907974
32 RANBP2, EDAR NM_022336.4(EDAR):c.-30A>C SNV Uncertain Significance
 330714 rs886054746 GRCh37: 2:109605427-109605427
GRCh38: 2:108988971-108988971
33 RANBP2, EDAR NM_022336.4(EDAR):c.-71C>G SNV Uncertain Significance
 894565 rs1207037322 GRCh37: 2:109605468-109605468
GRCh38: 2:108989012-108989012
34 RANBP2, EDAR NM_022336.4(EDAR):c.-129G>T SNV Uncertain Significance
 330715 rs886054747 GRCh37: 2:109605526-109605526
GRCh38: 2:108989070-108989070
35 RANBP2, EDAR NM_022336.4(EDAR):c.-226T>C SNV Uncertain Significance
 330717 rs886054748 GRCh37: 2:109605623-109605623
GRCh38: 2:108989167-108989167
36 RANBP2, EDAR NM_022336.4(EDAR):c.*1319C>G SNV Uncertain Significance
 330690 rs886054739 GRCh37: 2:109512044-109512044
GRCh38: 2:108895588-108895588
37 RANBP2, EDAR NM_022336.4(EDAR):c.*1298G>C SNV Uncertain Significance
 893246 rs1696567664 GRCh37: 2:109512065-109512065
GRCh38: 2:108895609-108895609
38 RANBP2, EDAR NM_022336.4(EDAR):c.*447T>C SNV Uncertain Significance
 893273 rs1264182094 GRCh37: 2:109512916-109512916
GRCh38: 2:108896460-108896460
39 RANBP2, EDAR NM_022336.4(EDAR):c.*402G>A SNV Uncertain Significance
 893274 rs758376546 GRCh37: 2:109512961-109512961
GRCh38: 2:108896505-108896505
40 RANBP2, EDAR NM_022336.4(EDAR):c.*242T>C SNV Uncertain Significance
 893276 rs1398672274 GRCh37: 2:109513121-109513121
GRCh38: 2:108896665-108896665
41 RANBP2, EDAR NM_022336.4(EDAR):c.*191C>T SNV Uncertain Significance
 893277 rs780909525 GRCh37: 2:109513172-109513172
GRCh38: 2:108896716-108896716
42 RANBP2, EDAR NM_022336.4(EDAR):c.*188G>C SNV Uncertain Significance
 330704 rs768401042 GRCh37: 2:109513175-109513175
GRCh38: 2:108896719-108896719
43 RANBP2, EDAR NM_022336.4(EDAR):c.607G>A (p.Val203Ile) SNV Uncertain Significance
 330709 rs148212997 GRCh37: 2:109527451-109527451
GRCh38: 2:108910995-108910995
44 RANBP2, EDAR NM_022336.4(EDAR):c.606C>T (p.Ile202=) SNV Uncertain Significance
 893316 rs201950451 GRCh37: 2:109527452-109527452
GRCh38: 2:108910996-108910996
45 RANBP2, EDAR NM_022336.4(EDAR):c.560C>T (p.Ala187Val) SNV Uncertain Significance
 893317 rs1411472080 GRCh37: 2:109527498-109527498
GRCh38: 2:108911042-108911042
46 RANBP2, EDAR NM_022336.4(EDAR):c.*1226A>C SNV Uncertain Significance
 330692 rs886054740 GRCh37: 2:109512137-109512137
GRCh38: 2:108895681-108895681
47 RANBP2, EDAR NM_022336.4(EDAR):c.*1199C>T SNV Uncertain Significance
 894096 rs372575462 GRCh37: 2:109512164-109512164
GRCh38: 2:108895708-108895708
48 RANBP2, EDAR NM_022336.4(EDAR):c.*1181C>T SNV Uncertain Significance
 330693 rs886054741 GRCh37: 2:109512182-109512182
GRCh38: 2:108895726-108895726
49 RANBP2, EDAR NM_022336.4(EDAR):c.*1108G>A SNV Uncertain Significance
 894098 rs564052014 GRCh37: 2:109512255-109512255
GRCh38: 2:108895799-108895799
50 RANBP2, EDAR NM_022336.4(EDAR):c.1288G>A (p.Asp430Asn) SNV Uncertain Significance
 330705 rs886054744 GRCh37: 2:109513422-109513422
GRCh38: 2:108896966-108896966

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

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

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

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

About this section

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

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 13.95 TRAF6 RANBP2 NFKBIA IRAK4 IKBKG EDARADD
2
Signal Transduction 66
13.73 WNT10A TRAF6 RANBP2 NFKBIA IRAK4 IKBKG
3
SARS-CoV-2 Infection 66
Show member pathways
 13.19 TRAF6 RANBP2 NFKBIA IKBKG FURIN CHUK
4
Toll-like receptor signaling pathway 74
Show member pathways
 12.8 CHUK IKBKG IRAK4 NFKBIA TRAF6
5
Cytokine Signaling in Immune system 66
Show member pathways
 12.73 TRAF6 RANBP2 NFKBIA IRAK4 IKBKG EDARADD
6
NF-KappaB Family Pathway 64
Show member pathways
 12.66 TRAF6 NFKBIA IRAK4 IKBKG CHUK
7
4-1BB Pathway 64
Show member pathways
 12.63 TRAF6 RANBP2 NFKBIA IKBKG CHUK
8
IL-1 Family Signaling Pathways 65
Show member pathways
 12.59 TRAF6 NFKBIA IRAK4 IKBKG CHUK
9
NF-kappaB Signaling 3
12.54 CHUK IKBKG IRAK4 NFKBIA TRAF6
10
Toll-Like receptor Signaling Pathways 65
Show member pathways
 12.46 TRAF6 NFKBIA IRAK4 IKBKG CHUK
11
Interleukin-1 family signaling 66
Show member pathways
 12.44 TRAF6 NFKBIA IRAK4 IKBKG CHUK
12
DDX58/IFIH1-mediated induction of interferon-alpha/beta 66
Show member pathways
 12.42 TRAF6 NFKBIA IKBKG CHUK
13
VEGF Pathway (Qiagen) 64
Show member pathways
 12.4 TRAF6 NFKBIA IRAK4 IKBKG CHUK
14
CLEC7A (Dectin-1) signaling 66
Show member pathways
 12.38 TRAF6 NFKBIA IKBKG CHUK
15
Bacterial infections in CF airways 22
Show member pathways
 12.37 TRAF6 NFKBIA IRAK4 IKBKG CHUK
16
TCR signaling (REACTOME) 66
Show member pathways
 12.34 TRAF6 NFKBIA IKBKG CHUK
17
Toll Comparative Pathway 64
Show member pathways
 12.28 CHUK IKBKG IRAK4 NFKBIA TRAF6
18
IL-17 Family Signaling Pathways 65
Show member pathways
 12.24 TRAF6 NFKBIA IKBKG CHUK
19
BAFF in B-Cell Signaling 64
Show member pathways
 12.21 TRAF6 NFKBIA IKBKG CHUK
20
Diseases of Immune System 66
Show member pathways
 12.17 CHUK IKBKG IRAK4 NFKBIA TRAF6
21
Development Notch Signaling Pathway 22
Show member pathways
 11.98 TRAF6 NFKBIA FURIN CHUK
22
G12-G13 in Cellular Signaling 64
11.97 NFKBIA IKBKG CHUK
23
MAPK Pathway 70
Show member pathways
 11.96 NFKBIA IKBKG CHUK
24
IL12-mediated signaling events 61
Show member pathways
 11.92 TRAF6 NFKBIA CHUK
25
Notch Signaling Pathways 65
11.87 CHUK FURIN IKBKG
26
CCL18 signaling pathway 74
11.85 NFKBIA IKBKG CHUK
27
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.84 TRAF6 IKBKG CHUK
28
Small cell lung cancer 74
11.84 TRAF6 NFKBIA IKBKG CHUK
29
Host-pathogen interaction of human coronaviruses - interferon induction 74
Show member pathways
 11.83 TRAF6 NFKBIA IKBKG CHUK
30
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 65
Show member pathways
 11.82 TRAF6 NFKBIA IRAK4 IKBKG EDARADD EDAR
31
Cytokine production by Th17 cells in CF (Mouse model) 22
Show member pathways
 11.81 TRAF6 NFKBIA IKBKG CHUK
32
LT-BetaR Pathway 64
Show member pathways
 11.77 CHUK IKBKG NFKBIA
33
Activation of NF-KappaB by PKR 64
Show member pathways
 11.75 NFKBIA IKBKG CHUK
34
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 22
Show member pathways
 11.69 TRAF6 NFKBIA IKBKG CHUK
35
Photodynamic therapy-induced NF-kB survival signaling 74
Show member pathways
 11.63 CHUK NFKBIA TRAF6
36
p75(NTR)-mediated signaling 61
Show member pathways
 11.62 TRAF6 IKBKG FURIN CHUK
37
BCR signaling pathway 61
11.59 TRAF6 NFKBIA IKBKG CHUK
38
IRAK1 recruits IKK complex 66
Show member pathways
 11.56 TRAF6 IKBKG CHUK
39
miRNAs involvement in the immune response in sepsis 74
11.55 TRAF6 IRAK4 IKBKG CHUK
40
IL 10 signaling pathway 67
11.53 TRAF6 NFKBIA IRAK4 EDA
41
Transcriptional Regulatory Network in Embryonic Stem Cell 64
11.51 NFKBIA IKBKG CHUK
42
THC Differentiation Pathway 64
11.49 NFKBIA IKBKG CHUK
43
Nucleotide-binding oligomerization domain (NOD) pathway 74
11.42 NFKBIA IKBKG CHUK
44
Transcription_NF-kB signaling pathway 22
11.4 TRAF6 NFKBIA IKBKG CHUK
45
Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins 22
11.35 NFKBIA IKBKG CHUK
46
Fibrin complement receptor 3 signaling pathway 74
11.26 CHUK IKBKG IRAK4 TRAF6
47
Antiviral and anti-inflammatory effects of Nrf2 on SARS-CoV-2 pathway 74
11.25 NFKBIA IKBKG CHUK
48
Estrogen signaling pathway 74
11.08 IKBKG CHUK
49
IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) 66
Show member pathways
 10.98 IKBKG CHUK
50
Canonical NF-kappaB pathway 61
10.94 TRAF6 NFKBIA IKBKG CHUK
Sources

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

About this section

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 9.26 TRAF6 CHUK
2 IkappaB kinase complex GO:0008385 8.92 IKBKG CHUK

Biological processes 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 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.07 CHUK EDA EDA2R IKBKG TRAF6
2 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.95 TRAF6 EDAR EDA
3 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.92 TRAF6 NFKBIA IKBKG CHUK
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.86 CHUK EDA2R NFKBIA TRAF6
5 hair follicle development GO:0001942 9.85 WNT10A EDAR EDA
6 salivary gland cavitation GO:0060662 9.73 EDAR EDA
7 regulation of odontogenesis GO:0042481 9.71 PAX9 MSX1
8 odontogenesis GO:0042476 9.7 WNT10A PAX9 MSX1 AXIN2
9 odontogenesis of dentin-containing tooth GO:0042475 9.65 TRAF6 SOSTDC1 MSX1 EDAR EDA
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.47 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 transferrin receptor binding GO:1990459 8.92 IKBKG CHUK
Sources

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

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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