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 56 12 73 29 13 6 71
Ectd10a 56 12 73
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 52 73
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 58 6
Ectodermal Dysplasia 10a 12 15
Hed 56 73
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant 39
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 56
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 56
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant 52
Autosomal Dominant Anhidrotic Ectodermal Dysplasia 58
Ectodermal Dysplasia 3, Anhidrotic 43
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:

56
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 56 129490
OMIM Phenotypic Series 56 PS305100
MeSH 43 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 : 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). (129490)

MalaCards based summary : Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant, also known as ectd10a, is related to witkop syndrome and clouston syndrome. 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 Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include skin and 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 33.4 PAX9 EDAR
2 clouston syndrome 32.4 EDARADD EDAR
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 32.4 PAX9 EDARADD EDAR EDA2R EDA
4 hypohidrotic ectodermal dysplasia autosomal recessive 31.9 EDARADD EDAR
5 ectodermal dysplasia 1, hypohidrotic, x-linked 31.2 EDARADD EDAR EDA2R EDA
6 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 31.1 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
7 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.0 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
8 anhidrosis 30.1 EDARADD EDAR EDA
9 incontinentia pigmenti 29.8 TRAF6 EDAR EDA
10 hypotrichosis 29.7 EDARADD EDAR EDA
11 anodontia 29.0 PAX9 EDARADD EDAR EDA2R EDA
12 ectodermal dysplasia 28.3 TRAF6 TAB2 NFKBIB KDF1 EDARADD EDAR
13 tooth agenesis 28.2 TRAF6 PAX9 KDF1 EDARADD EDAR EDA2R
14 ectodermal dysplasia and immunodeficiency 1 11.7
15 hypermobile ehlers-danlos syndrome 11.6
16 ectodermal dysplasia and immunodeficiency 2 11.5
17 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
18 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
19 ehlers-danlos syndrome, hypermobility type 11.2
20 hidrotic ectodermal dysplasia 2 10.3
21 ehlers-danlos syndrome 10.3
22 graft-versus-host disease 10.3
23 bacterial infectious disease 10.3
24 thrombocytopenia 10.3
25 hemolytic anemia 10.3
26 acute graft versus host disease 10.3
27 autoimmune disease 10.2
28 dengue virus 10.2
29 dengue disease 10.2
30 dengue hemorrhagic fever 10.2
31 immune deficiency disease 10.2
32 end stage renal disease 10.2
33 combined oxidative phosphorylation deficiency 5 10.1 EDARADD APPL1
34 schopf-schulz-passarge syndrome 10.1 EDARADD EDAR
35 keratitis, hereditary 10.0
36 pheochromocytoma 10.0
37 triiodothyronine receptor auxiliary protein 10.0
38 colorectal adenocarcinoma 10.0
39 adrenal gland pheochromocytoma 10.0
40 postural orthostatic tachycardia syndrome 10.0
41 osteopetrosis 10.0
42 keratosis 10.0
43 long qt syndrome 10.0
44 multiple endocrine neoplasia 10.0
45 eye disease 10.0
46 herpes simplex 10.0
47 iridocyclitis 10.0
48 alopecia 10.0
49 lymphosarcoma 10.0
50 mast cell activation syndrome 10.0

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 26)
# 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 31 frequent (33%) 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 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
11 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
12 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
13 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
14 abnormality of the dentition 58 Very frequent (99-80%)
15 dry skin 31 HP:0000958
16 microdontia 31 HP:0000691
17 abnormality of the fingernails 58 Frequent (79-30%)
18 hypotrichosis 58 Very frequent (99-80%)
19 fine hair 31 HP:0002213
20 nail dysplasia 31 HP:0002164
21 slow-growing hair 31 HP:0002217
22 sparse eyelashes 31 HP:0000653
23 ectodermal dysplasia 31 HP:0000968
24 anodontia 31 HP:0000674
25 heat intolerance 31 HP:0002046
26 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 EDAR EDARADD KDF1 PAX9 TRAF6
2 limbs/digits/tail MP:0005371 9.35 EDAR EDARADD KDF1 PAX9 TRAF6
3 mortality/aging MP:0010768 9.28 APPL1 EDAR EDARADD KDF1 NFKBIB PAX9

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
Skin, 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 13)
# Title Authors PMID Year
1
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. 56 61
9545409 1998
2
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. 56 61
9375732 1997
3
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 56
20979233 2011
4
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 56
18231121 2008
5
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
6
Hypohidrotic Ectodermal Dysplasia 6
20301291 2003
7
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 56
10431241 1999
8
Autosomal dominant ectodermal dysplasia. 56
3429615 1987
9
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. 61
28097853 2017
10
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. 61
27168349 2017
11
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 61
24641098 2015
12
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. 61
18384562 2008
13
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 59) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDAR NM_022336.4(EDAR):c.284del (p.Gly95fs)deletion Pathogenic 417939 rs1060499610 2:109545726-109545726 2:108929270-108929270
2 EDAR NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)SNV Pathogenic 449014 rs199544410 2:109524376-109524376 2:108907920-108907920
3 EDAR NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer)deletion Pathogenic 532547 rs1553443360 2:109513516-109513517 2:108897060-108897061
4 EDAR NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)SNV Pathogenic 569147 rs1432041144 2:109524348-109524348 2:108907892-108907892
5 EDAR NM_022336.4(EDAR):c.1169dup (p.Met391fs)duplication Pathogenic 579211 rs1558793621 2:109513540-109513541 2:108897084-108897085
6 EDAR NM_022336.4(EDAR):c.1088del (p.Thr363fs)deletion Pathogenic 643058 2:109513622-109513622 2:108897166-108897166
7 EDAR NM_022336.4(EDAR):c.1089del (p.Tyr364fs)deletion Pathogenic 566967 rs1558793736 2:109513621-109513621 2:108897165-108897165
8 EDAR NM_022336.4(EDAR):c.1169del (p.Gly390fs)deletion Pathogenic 859573 2:109513541-109513541 2:108897085-108897085
9 EDARADD NM_080738.4(EDARADD):c.335T>G (p.Leu112Arg)SNV Pathogenic 4189 rs121908116 1:236645666-236645666 1:236482366-236482366
10 EDAR NC_000002.12:g.(?_108896907)_(108906334_?)deldeletion Pathogenic 163325 2:109513363-109522790 2:108896907-108906334
11 EDAR NM_022336.3(EDAR):c.(?_509)_(803_?)+34deldeletion Pathogenic 228341 2:109526882-109529154 2:108910426-108912698
12 EDAR NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)SNV Pathogenic 5852 rs121908452 2:109513638-109513638 2:108897182-108897182
13 EDAR NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)SNV Pathogenic 265115 rs886039348 2:109513589-109513589 2:108897133-108897133
14 EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)SNV Pathogenic/Likely pathogenic 5853 rs121908453 2:109513451-109513451 2:108896995-108896995
15 EDAR NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)SNV Likely pathogenic 267731 rs886041005 2:109513426-109513426 2:108896970-108896970
16 EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His)SNV Likely pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288
17 EDAR NM_022336.4(EDAR):c.175-2A>GSNV Likely pathogenic 572701 rs757233170 2:109545837-109545837 2:108929381-108929381
18 EDAR NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)SNV Likely pathogenic 532549 rs557166582 2:109545718-109545718 2:108929262-108929262
19 EDAR NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)SNV Likely pathogenic 463876 rs1310296844 2:109513578-109513578 2:108897122-108897122
20 EDAR NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)SNV Likely pathogenic 463877 rs917638291 2:109513547-109513547 2:108897091-108897091
21 EDAR NM_022336.4(EDAR):c.1024+1G>ASNV Likely pathogenic 463874 rs1553444895 2:109522763-109522763 2:108906307-108906307
22 EDAR NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)SNV Conflicting interpretations of pathogenicity 330711 rs375891208 2:109546604-109546604 2:108930148-108930148
23 EDAR NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)SNV Conflicting interpretations of pathogenicity 330712 rs760731007 2:109546682-109546682 2:108930226-108930226
24 EDAR NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)SNV Uncertain significance 5851 rs121908451 2:109545751-109545751 2:108929295-108929295
25 EDAR NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile)SNV Uncertain significance 463878 rs899642068 2:109513535-109513535 2:108897079-108897079
26 EDAR NM_022336.4(EDAR):c.1214G>C (p.Gly405Ala)SNV Uncertain significance 853527 2:109513496-109513496 2:108897040-108897040
27 EDAR NM_022336.4(EDAR):c.187G>A (p.Gly63Ser)SNV Uncertain significance 532550 rs764223500 2:109545823-109545823 2:108929367-108929367
28 EDAR NM_022336.4(EDAR):c.166C>T (p.Pro56Ser)SNV Uncertain significance 532546 rs1553448523 2:109546584-109546584 2:108930128-108930128
29 EDAR NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro)SNV Uncertain significance 840729 2:109513580-109513580 2:108897124-108897124
30 EDAR NM_022336.4(EDAR):c.1038G>A (p.Thr346=)SNV Uncertain significance 839010 2:109513672-109513672 2:108897216-108897216
31 EDAR NM_022336.4(EDAR):c.973C>T (p.Arg325Trp)SNV Uncertain significance 847026 2:109522815-109522815 2:108906359-108906359
32 EDAR NM_022336.4(EDAR):c.802A>T (p.Ser268Cys)SNV Uncertain significance 862820 2:109526917-109526917 2:108910461-108910461
33 EDAR NM_022336.4(EDAR):c.575T>G (p.Met192Arg)SNV Uncertain significance 840707 2:109527483-109527483 2:108911027-108911027
34 EDAR NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys)SNV Uncertain significance 850904 2:109539874-109539874 2:108923418-108923418
35 EDAR NM_022336.4(EDAR):c.275A>G (p.Asp92Gly)SNV Uncertain significance 570266 rs752810615 2:109545735-109545735 2:108929279-108929279
36 EDAR NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter)SNV Uncertain significance 631823 rs758536902 2:109546642-109546642 2:108930186-108930186
37 EDAR NM_022336.4(EDAR):c.656-1G>ASNV Uncertain significance 631822 rs1558802058 2:109527307-109527307 2:108910851-108910851
38 EDAR NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser)SNV Uncertain significance 657780 2:109513568-109513568 2:108897112-108897112
39 EDAR NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del)short repeat Uncertain significance 650219 2:109513644-109513646 2:108897188-108897190
40 EDAR NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)SNV Uncertain significance 641915 2:109545682-109545682 2:108929226-108929226
41 EDAR NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)SNV Uncertain significance 658733 2:109546628-109546628 2:108930172-108930172
42 EDAR NC_000002.11:g.(?_109367964)_(109579739_?)dupduplication Uncertain significance 657900 2:109367964-109579739 2:108751508-108963283
43 EDAR NC_000002.11:g.(?_109336043)_(109579739_?)dupduplication Uncertain significance 655229 2:109336043-109579739 2:108719587-108963283
44 EDAR NM_022336.4(EDAR):c.1209G>A (p.Thr403=)SNV Likely benign 463879 rs200198949 2:109513501-109513501 2:108897045-108897045
45 EDAR NM_022336.4(EDAR):c.1017C>A (p.Val339=)SNV Likely benign 463873 rs201434694 2:109522771-109522771 2:108906315-108906315
46 EDAR NM_022336.4(EDAR):c.227C>T (p.Ala76Val)SNV Likely benign 798239 2:109545783-109545783 2:108929327-108929327
47 EDAR NM_022336.4(EDAR):c.960C>T (p.Ala320=)SNV Benign/Likely benign 283784 rs10432616 2:109524319-109524319 2:108907863-108907863
48 EDAR NM_022336.4(EDAR):c.822C>A (p.Ser274=)SNV Benign/Likely benign 261573 rs79648056 2:109524457-109524457 2:108908001-108908001
49 EDAR NM_022336.4(EDAR):c.319A>G (p.Met107Val)SNV Benign/Likely benign 261572 rs61761321 2:109545691-109545691 2:108929235-108929235
50 EDAR NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg)SNV Benign 261571 rs146567337 2:109513572-109513572 2:108897116-108897116

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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 TRAF6 TAB2 TAB1 NFKBIB EDARADD EDAR
2
Show member pathways
12.98 TRAF6 TAB2 TAB1 EDARADD EDAR EDA2R
3
Show member pathways
12.62 TRAF6 TAB2 TAB1 NFKBIB
4
Show member pathways
12.54 TRAF6 TAB2 TAB1 NFKBIB
5 12.39 TRAF6 TAB2 TAB1 NFKBIB
6
Show member pathways
12.37 TRAF6 TAB2 TAB1 NFKBIB
7
Show member pathways
12.25 TRAF6 TAB2 TAB1 NFKBIB
8
Show member pathways
12.24 TRAF6 TAB2 TAB1
9
Show member pathways
12.23 TRAF6 TAB2 TAB1 NFKBIB
10 12.21 TRAF6 TAB2 TAB1 NFKBIB
11
Show member pathways
12.16 TRAF6 TAB2 NFKBIB
12 12.13 TRAF6 TAB2 TAB1
13
Show member pathways
12.13 TRAF6 TAB2 TAB1 NFKBIB
14
Show member pathways
12.12 TRAF6 TAB2 TAB1 NFKBIB
15 12.08 TRAF6 TAB2 TAB1 NFKBIB
16 12.06 TAB2 TAB1 PAX9
17
Show member pathways
12.06 TRAF6 TAB2 TAB1 NFKBIB
18
Show member pathways
12.03 TRAF6 TAB2 TAB1 NFKBIB
19
Show member pathways
12.03 TRAF6 TAB2 TAB1 NFKBIB EDAR EDA2R
20 11.99 TRAF6 TAB2 TAB1 NFKBIB
21
Show member pathways
11.92 TRAF6 TAB2 TAB1 NFKBIB
22 11.88 TRAF6 TAB2 TAB1
23 11.85 TRAF6 TAB2 TAB1
24
Show member pathways
11.82 TRAF6 TAB2 TAB1
25 11.56 TRAF6 TAB2 TAB1 NFKBIB
26 11.39 TRAF6 NFKBIB
27
Show member pathways
11.37 EDARADD EDAR EDA2R EDA
28 11.18 TRAF6 TAB2 TAB1 EDARADD EDAR EDA2R
29 11.15 TRAF6 TAB1
30 11.11 TAB2 TAB1
31 11.06 TRAF6 TAB1
32 11.06 TRAF6 TAB1
33 11.01 TRAF6 TAB2 TAB1

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 TRAF6 TAB2 TAB1 APPL1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 PAX9 KDF1 EDARADD EDAR EDA2R EDA
2 cell differentiation GO:0030154 9.96 KDF1 EDARADD EDAR EDA2R EDA
3 Fc-epsilon receptor signaling pathway GO:0038095 9.74 TRAF6 TAB2 TAB1
4 activation of MAPK activity GO:0000187 9.72 TRAF6 TAB2 TAB1
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.71 TRAF6 TAB2 TAB1
6 interleukin-1-mediated signaling pathway GO:0070498 9.7 TRAF6 TAB2 TAB1
7 positive regulation of JNK cascade GO:0046330 9.69 TRAF6 EDAR EDA2R
8 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.65 TRAF6 TAB2 TAB1
9 odontogenesis of dentin-containing tooth GO:0042475 9.61 TRAF6 EDAR EDA
10 hair follicle development GO:0001942 9.58 EDAR EDA
11 pigmentation GO:0043473 9.58 EDAR EDA
12 JNK cascade GO:0007254 9.58 TRAF6 TAB2 TAB1
13 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.56 TRAF6 EDARADD EDAR EDA
14 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.55 TRAF6 TAB2 EDAR EDA2R EDA
15 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.54 TRAF6 TAB2 TAB1
16 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.5 TRAF6 TAB2 TAB1
17 salivary gland cavitation GO:0060662 9.46 EDAR EDA
18 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.35 TRAF6 TAB2 TAB1 EDA2R EDA
19 tumor necrosis factor-mediated signaling pathway GO:0033209 9.02 TRAF6 EDARADD EDAR 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 8.96 TRAF6 EDA
2 protein kinase B binding GO:0043422 8.62 TRAF6 APPL1

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

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