ECTD10A
MCID: ECT061
MIFTS: 48

Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant (ECTD10A)

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

Aliases & Classifications for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

MalaCards integrated aliases for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

Name: Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 57 12 73 29 13 6 71
Ectd10a 57 12 73
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 57 6
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 20 73
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 58 6
Ectodermal Dysplasia 10a 12 15
Hed 57 73
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant 39
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 57
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant 20
Autosomal Dominant Anhidrotic Ectodermal Dysplasia 58
Ectodermal Dysplasia 3, Anhidrotic 44
Dysplasia, Ectodermal, Type 3 39
Ectodermal Dysplasia 3 73
Ad-Hed 58
Eda3 73
Ed3 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant hypohidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111663
OMIM® 57 129490
OMIM Phenotypic Series 57 PS305100
MeSH 44 D053359
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C0265331
Orphanet 58 ORPHA1810
UMLS 71 C3888065

Summaries for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

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). (129490) (Updated 05-Mar-2021)

MalaCards based summary : Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant, also known as ectd10a, is related to witkop syndrome and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are CDK-mediated phosphorylation and removal of Cdc6 and Innate Immune System. Affiliated tissues include eye, and related phenotypes are hypohidrosis and hypodontia

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in heterozygous mutation in EDAR on chromosome 2q13.

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

Related Diseases for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 witkop syndrome 32.6 PAX9 EDAR
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.7 PAX9 EDARADD EDAR EDA2R EDA
3 hypohidrotic ectodermal dysplasia autosomal recessive 31.4 EDARADD EDAR
4 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.2 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
5 ectodermal dysplasia 1, hypohidrotic, x-linked 31.0 EDARADD EDAR EDA2R EDA
6 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 30.9 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
7 anhidrosis 29.9 EDARADD EDAR EDA
8 incontinentia pigmenti 29.9 TRAF6 EDAR EDA
9 hypotrichosis 29.6 EDARADD EDAR EDA
10 anodontia 29.1 PAX9 EDARADD EDAR EDA2R EDA
11 tooth agenesis 28.5 TRAF6 PAX9 KDF1 EDARADD EDAR EDA2R
12 ectodermal dysplasia 28.2 UBC TRAF6 TAB2 NFKBIB KDF1 EDARADD
13 ectodermal dysplasia and immunodeficiency 1 11.2
14 ectodermal dysplasia and immunodeficiency 2 11.0
15 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
16 clouston syndrome 10.9
17 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
18 graft-versus-host disease 10.2
19 bacterial infectious disease 10.2
20 thrombocytopenia 10.2
21 hemolytic anemia 10.2
22 acute graft versus host disease 10.2
23 hidrotic ectodermal dysplasia 2 10.1
24 pompholyx 10.1 EDAR EDA
25 schopf-schulz-passarge syndrome 10.1 EDARADD EDAR
26 ectodermal dysplasia 4, hair/nail type 10.1 EDARADD EDAR
27 atrophic rhinitis 10.1 EDARADD EDA
28 tooth agenesis, selective, 1 10.0 PAX9 EDA
29 immune deficiency disease 10.0
30 end stage renal disease 10.0
31 sweat gland disease 10.0 EDARADD EDAR EDA
32 dengue virus 9.9
33 dengue disease 9.9
34 dengue hemorrhagic fever 9.9
35 atrial standstill 1 9.8
36 cardiac conduction defect 9.8
37 pheochromocytoma 9.8
38 triiodothyronine receptor auxiliary protein 9.8
39 nasopharyngeal carcinoma 9.8
40 colorectal adenocarcinoma 9.8
41 adrenal gland pheochromocytoma 9.8
42 covid-19 9.8
43 hypertrophic cardiomyopathy 9.8
44 leiomyoma 9.8
45 osteopetrosis 9.8
46 keratosis 9.8
47 long qt syndrome 9.8
48 multiple endocrine neoplasia 9.8
49 myofibroma 9.8
50 sleep disorder 9.8

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:



Diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant

Symptoms & Phenotypes for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Human phenotypes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
2 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
3 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
6 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
7 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
8 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
9 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
10 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
11 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
12 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
13 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
14 abnormality of the dentition 58 Very frequent (99-80%)
15 microdontia 31 HP:0000691
16 dry skin 31 HP:0000958
17 hypotrichosis 58 Very frequent (99-80%)
18 fine hair 31 HP:0002213
19 nail dysplasia 31 HP:0002164
20 slow-growing hair 31 HP:0002217
21 sparse eyelashes 31 HP:0000653
22 ectodermal dysplasia 31 HP:0000968
23 anodontia 31 HP:0000674
24 heat intolerance 31 HP:0002046
25 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Teeth:
microdontia
hypodontia
anodontia
misshapen teeth

Skin Nails Hair Hair:
hypotrichosis
fine, slow-growing hair
sparse eyebrows and eyelashes

Metabolic Features:
intolerance to heat and fever

Skin Nails Hair Skin:
hypohidrosis
smooth, thin, dry skin

Skin Nails Hair Nails:
onychodysplasia (40%)

Clinical features from OMIM®:

129490 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.73 EDAR EDARADD KDF1 PAX9 TRAF6 UBC
2 hearing/vestibular/ear MP:0005377 9.55 EDARADD KDF1 PAX9 TRAF6 UBC
3 limbs/digits/tail MP:0005371 9.35 EDAR EDARADD KDF1 PAX9 TRAF6
4 mortality/aging MP:0010768 9.28 EDAR EDARADD KDF1 NFKBIB PAX9 TAB1

Drugs & Therapeutics for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant

Cochrane evidence based reviews: ectodermal dysplasia 3, anhidrotic

Genetic Tests for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Genetic tests related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 29 EDAR EDARADD

Anatomical Context for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

MalaCards organs/tissues related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

40
Eye

Publications for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Articles related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

(show all 12)
# Title Authors PMID Year
1
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. 61 57
9545409 1998
2
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. 57 61
9375732 1997
3
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 57
20979233 2011
4
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 57
18231121 2008
5
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
6
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 57
10431241 1999
7
Autosomal dominant ectodermal dysplasia. 57
3429615 1987
8
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. 61
28097853 2017
9
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. 61
27168349 2017
10
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 61
24641098 2015
11
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. 61
18384562 2008
12
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. 61
17125505 2006

Variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

ClinVar genetic disease variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDARADD NM_080738.4(EDARADD):c.335T>G (p.Leu112Arg) SNV Pathogenic 4189 rs121908116 1:236645666-236645666 1:236482366-236482366
2 EDARADD NM_080738.4(EDARADD):c.335T>G (p.Leu112Arg) SNV Pathogenic 4189 rs121908116 1:236645666-236645666 1:236482366-236482366
3 EDAR NC_000002.12:g.(?_108896907)_(108906334_?)del Deletion Pathogenic 163325 2:109513363-109522790 2:108896907-108906334
4 EDAR NM_022336.4(EDAR):c.284del (p.Gly95fs) Deletion Pathogenic 417939 rs1060499610 2:109545726-109545726 2:108929270-108929270
5 EDAR NM_022336.4(EDAR):c.903C>A (p.Cys301Ter) SNV Pathogenic 449014 rs199544410 2:109524376-109524376 2:108907920-108907920
6 EDAR NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter) SNV Pathogenic 5852 rs121908452 2:109513638-109513638 2:108897182-108897182
7 EDAR NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer) Deletion Pathogenic 532547 rs1553443360 2:109513516-109513517 2:108897060-108897061
8 EDAR NM_022336.4(EDAR):c.292C>T (p.Arg98Trp) SNV Pathogenic 532549 rs557166582 2:109545718-109545718 2:108929262-108929262
9 EDAR NM_022336.4(EDAR):c.1089del (p.Tyr364fs) Deletion Pathogenic 566967 rs1558793736 2:109513621-109513621 2:108897165-108897165
10 EDAR NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) SNV Pathogenic 569147 rs1432041144 2:109524348-109524348 2:108907892-108907892
11 EDAR NM_022336.4(EDAR):c.1169dup (p.Met391fs) Duplication Pathogenic 579211 rs1558793621 2:109513540-109513541 2:108897084-108897085
12 EDAR NM_022336.4(EDAR):c.1088del (p.Thr363fs) Deletion Pathogenic 643058 rs1574362082 2:109513622-109513622 2:108897166-108897166
13 EDAR NM_022336.3(EDAR):c.(?_509)_(803_?)+34del Deletion Pathogenic 228341 2:109526882-109529154 2:108910426-108912698
14 EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) SNV Pathogenic 5853 rs121908453 2:109513451-109513451 2:108896995-108896995
15 EDAR NM_022336.4(EDAR):c.1169del (p.Gly390fs) Deletion Pathogenic 859573 2:109513541-109513541 2:108897085-108897085
16 EDAR NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter) SNV Pathogenic 265115 rs886039348 2:109513589-109513589 2:108897133-108897133
17 EDAR NM_022336.4(EDAR):c.1208C>T (p.Thr403Met) SNV Pathogenic 951857 2:109513502-109513502 2:108897046-108897046
18 EDAR NM_022336.4(EDAR):c.979A>T (p.Lys327Ter) SNV Pathogenic 954560 2:109522809-109522809 2:108906353-108906353
19 EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His) SNV Pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288
20 EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) SNV Pathogenic/Likely pathogenic 5853 rs121908453 2:109513451-109513451 2:108896995-108896995
21 EDAR NM_022336.4(EDAR):c.1024+1G>A SNV Likely pathogenic 463874 rs1553444895 2:109522763-109522763 2:108906307-108906307
22 EDAR NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr) SNV Likely pathogenic 463876 rs1310296844 2:109513578-109513578 2:108897122-108897122
23 EDAR NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr) SNV Likely pathogenic 463877 rs917638291 2:109513547-109513547 2:108897091-108897091
24 EDARADD NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter) SNV Likely pathogenic 473077 rs954823206 1:236645718-236645718 1:236482418-236482418
25 EDAR NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) SNV Likely pathogenic 267731 rs886041005 2:109513426-109513426 2:108896970-108896970
26 EDAR NM_022336.4(EDAR):c.287T>C (p.Phe96Ser) SNV Likely pathogenic 972718 2:109545723-109545723 2:108929267-108929267
27 EDAR NM_022336.4(EDAR):c.175-2A>G SNV Likely pathogenic 572701 rs757233170 2:109545837-109545837 2:108929381-108929381
28 EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His) SNV Likely pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288
29 EDAR NM_022336.4(EDAR):c.1038G>A (p.Thr346=) SNV Uncertain significance 839010 2:109513672-109513672 2:108897216-108897216
30 EDAR NM_022336.4(EDAR):c.575T>G (p.Met192Arg) SNV Uncertain significance 840707 2:109527483-109527483 2:108911027-108911027
31 EDAR NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) SNV Uncertain significance 840729 2:109513580-109513580 2:108897124-108897124
32 EDARADD NM_145861.3(EDARADD):c.509G>A (p.Arg170Gln) SNV Uncertain significance 540293 rs757261515 1:236645810-236645810 1:236482510-236482510
33 EDAR NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter) SNV Uncertain significance 631823 rs758536902 2:109546642-109546642 2:108930186-108930186
34 EDAR NM_022336.4(EDAR):c.328G>A (p.Asp110Asn) SNV Uncertain significance 641915 rs1574385383 2:109545682-109545682 2:108929226-108929226
35 EDAR NM_022336.4(EDAR):c.259T>C (p.Cys87Arg) SNV Uncertain significance 5851 rs121908451 2:109545751-109545751 2:108929295-108929295
36 EDAR NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del) Microsatellite Uncertain significance 650219 rs1574362124 2:109513644-109513646 2:108897188-108897190
37 RANBP2 NC_000002.11:g.(?_109336043)_(109579739_?)dup Duplication Uncertain significance 655229 2:109336043-109579739 2:108719587-108963283
38 EDAR NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser) SNV Uncertain significance 657780 rs1574361959 2:109513568-109513568 2:108897112-108897112
39 RANBP2 NC_000002.11:g.(?_109367964)_(109579739_?)dup Duplication Uncertain significance 657900 2:109367964-109579739 2:108751508-108963283
40 EDAR NM_022336.4(EDAR):c.122C>A (p.Thr41Lys) SNV Uncertain significance 658733 rs368553609 2:109546628-109546628 2:108930172-108930172
41 EDAR NM_022336.4(EDAR):c.146C>T (p.Pro49Leu) SNV Uncertain significance 330711 rs375891208 2:109546604-109546604 2:108930148-108930148
42 EDAR NM_022336.4(EDAR):c.1156G>A (p.Asp386Asn) SNV Uncertain significance 964896 2:109513554-109513554 2:108897098-108897098
43 EDAR NM_022336.4(EDAR):c.802A>T (p.Ser268Cys) SNV Uncertain significance 862820 2:109526917-109526917 2:108910461-108910461
44 EDAR NM_022336.4(EDAR):c.803+4T>G SNV Uncertain significance 934574 2:109526912-109526912 2:108910456-108910456
45 EDAR NM_022336.4(EDAR):c.1214G>A (p.Gly405Asp) SNV Uncertain significance 934620 2:109513496-109513496 2:108897040-108897040
46 EDAR NM_022336.4(EDAR):c.71C>A (p.Ala24Asp) SNV Uncertain significance 936912 2:109546679-109546679 2:108930223-108930223
47 EDAR NM_022336.4(EDAR):c.674C>T (p.Pro225Leu) SNV Uncertain significance 330708 rs376622302 2:109527288-109527288 2:108910832-108910832
48 EDAR NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) SNV Uncertain significance 847026 2:109522815-109522815 2:108906359-108906359
49 EDAR NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) SNV Uncertain significance 850904 2:109539874-109539874 2:108923418-108923418
50 EDAR NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala) SNV Uncertain significance 853527 2:109513496-109513496 2:108897040-108897040

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 EDAR p.Arg420Gln VAR_013450 rs121908453

Expression for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Search GEO for disease gene expression data for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant.

Pathways for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Pathways related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.1 UBC TRAF6 TAB2 TAB1 NFKBIB EDARADD
2
Show member pathways
13.79 UBC TRAF6 TAB2 TAB1 NFKBIB EDARADD
3
Show member pathways
12.87 UBC TRAF6 TAB2 TAB1 EDARADD EDAR
4
Show member pathways
12.77 UBC TRAF6 TAB2 TAB1
5
Show member pathways
12.63 TRAF6 TAB2 TAB1 NFKBIB
6
Show member pathways
12.57 TRAF6 TAB2 TAB1 NFKBIB
7
Show member pathways
12.53 UBC TRAF6 TAB2 TAB1 NFKBIB
8 12.41 TRAF6 TAB2 TAB1 NFKBIB
9
Show member pathways
12.34 UBC TRAF6 TAB2 TAB1 NFKBIB
10
Show member pathways
12.28 UBC TRAF6 TAB2 TAB1
11
Show member pathways
12.27 TRAF6 TAB2 TAB1 NFKBIB
12
Show member pathways
12.26 TRAF6 TAB2 TAB1 NFKBIB
13
Show member pathways
12.19 UBC TRAF6 TAB2
14
Show member pathways
12.17 TRAF6 TAB2 NFKBIB
15
Show member pathways
12.17 UBC TAB2 TAB1
16 12.16 UBC TRAF6 TAB2 TAB1 NFKBIB
17
Show member pathways
12.12 TRAF6 TAB2 TAB1 NFKBIB
18
Show member pathways
12.1 TRAF6 TAB2 TAB1 NFKBIB
19
Show member pathways
12.1 UBC TRAF6 TAB2 TAB1 NFKBIB
20
Show member pathways
12.09 UBC TRAF6 TAB2 TAB1 NFKBIB EDAR
21 12.07 TAB2 TAB1 PAX9
22 12.07 TRAF6 TAB2 TAB1 NFKBIB
23
Show member pathways
12 TRAF6 TAB2 TAB1 NFKBIB
24
Show member pathways
11.96 UBC TRAF6 TAB2 TAB1 NFKBIB
25 11.92 TRAF6 TAB2 TAB1
26 11.89 TRAF6 TAB2 TAB1
27
Show member pathways
11.84 TRAF6 TAB2 TAB1
28
Show member pathways
11.54 EDARADD EDAR EDA2R EDA
29 11.47 UBC TRAF6 NFKBIB
30 11.32 UBC NFKBIB
31 11.24 UBC TRAF6
32 11.22 UBC TRAF6
33 11.18 TRAF6 TAB2 TAB1 EDARADD EDAR EDA2R
34 11.16 TRAF6 TAB1
35 11.12 TAB2 TAB1
36 11.1 TRAF6 TAB2 TAB1
37 11.07 TRAF6 TAB1
38 11.07 TRAF6 TAB1
39 11.01 UBC TRAF6

GO Terms for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Cellular components related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.92 UBC TRAF6 TAB2 TAB1

Biological processes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10 PAX9 KDF1 EDARADD EDAR EDA2R EDA
2 cell differentiation GO:0030154 9.96 KDF1 EDARADD EDAR EDA2R EDA
3 activation of MAPK activity GO:0000187 9.78 UBC TRAF6 TAB2 TAB1
4 cytokine-mediated signaling pathway GO:0019221 9.77 UBC TRAF6 EDA
5 protein deubiquitination GO:0016579 9.77 UBC TRAF6 TAB1
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.77 TRAF6 TAB2 EDAR EDA2R EDA
7 interleukin-1-mediated signaling pathway GO:0070498 9.76 UBC TRAF6 TAB2 TAB1
8 Fc-epsilon receptor signaling pathway GO:0038095 9.74 TRAF6 TAB2 TAB1
9 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.73 TRAF6 EDARADD EDAR EDA
10 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.72 TRAF6 TAB2 TAB1
11 positive regulation of JNK cascade GO:0046330 9.71 TRAF6 EDAR EDA2R
12 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.71 UBC TRAF6 TAB2 TAB1
13 odontogenesis of dentin-containing tooth GO:0042475 9.67 TRAF6 EDAR EDA
14 tumor necrosis factor-mediated signaling pathway GO:0033209 9.65 TRAF6 EDARADD EDAR EDA2R EDA
15 JNK cascade GO:0007254 9.62 UBC TRAF6 TAB2 TAB1
16 hair follicle development GO:0001942 9.58 EDAR EDA
17 pigmentation GO:0043473 9.58 EDAR EDA
18 salivary gland cavitation GO:0060662 9.51 EDAR EDA
19 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.46 UBC TRAF6 TAB2 TAB1
20 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.26 UBC TRAF6 TAB2 TAB1
21 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.1 UBC TRAF6 TAB2 TAB1 EDA2R EDA

Molecular functions related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor receptor binding GO:0005164 8.62 TRAF6 EDA

Sources for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

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