ECTD10A
MCID: ECT061
MIFTS: 43

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 75 13 73
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 59 29 6
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 53 75
Ectd10a 57 75
Hed 57 75
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant 40
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 57
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 57
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant 53
Autosomal Dominant Anhidrotic Ectodermal Dysplasia 59
Ectodermal Dysplasia 3, Anhidrotic 44
Dysplasia, Ectodermal, Type 3 40
Ectodermal Dysplasia 3 75
Ad-Hed 59
Eda3 75
Ed3 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant hypohidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



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). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. (129490)

MalaCards based summary : Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant, also known as autosomal dominant hypohidrotic ectodermal dysplasia, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and hypohidrotic ectodermal dysplasia 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 Cytokine Signaling in Immune system and TNFs bind their physiological receptors. Affiliated tissues include skin, eye and t cells, and related phenotypes are thick vermilion border and prominent forehead

UniProtKB/Swiss-Prot : 75 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...

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
2 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
3 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
4 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
5 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
6 malignant hyperthermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002047
7 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
8 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
9 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
10 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
11 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
12 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
13 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
14 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
15 abnormality of the dentition 59 Very frequent (99-80%)
16 microdontia 32 HP:0000691
17 dry skin 32 HP:0000958
18 fine hair 32 HP:0002213
19 nail dysplasia 32 HP:0002164
20 slow-growing hair 32 HP:0002217
21 sparse eyelashes 32 HP:0000653
22 ectodermal dysplasia 32 HP:0000968
23 heat intolerance 32 HP:0002046
24 anodontia 32 HP:0000674
25 sparse and thin eyebrow 32 HP:0000535

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 TRAF6
2 growth/size/body region MP:0005378 9.67 EDAR EDARADD KDF1 TRAF6
3 digestive/alimentary MP:0005381 9.58 EDAR KDF1 TRAF6
4 integument MP:0010771 9.56 EDAR EDARADD KDF1 TRAF6
5 hearing/vestibular/ear MP:0005377 9.5 EDARADD KDF1 TRAF6
6 limbs/digits/tail MP:0005371 9.46 EDAR EDARADD KDF1 TRAF6
7 pigmentation MP:0001186 9.13 EDAR EDARADD TRAF6
8 reproductive system MP:0005389 8.92 EDAR EDARADD KDF1 TRAF6

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 Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 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:

41
Skin, Eye, T Cells

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

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

# Title Authors Year
1
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. ( 28097853 )
2017
2
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. ( 27168349 )
2016
3
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. ( 24641098 )
2014
4
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. ( 18384562 )
2008
5
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. ( 17125505 )
2006
6
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. ( 9545409 )
1998
7
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. ( 9375732 )
1997

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

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

75
# Symbol AA change Variation ID SNP ID
1 EDAR p.Arg420Gln VAR_013450 rs121908453

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

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDARADD NM_080738.3(EDARADD): c.335T> G (p.Leu112Arg) single nucleotide variant Pathogenic rs121908116 GRCh37 Chromosome 1, 236645666: 236645666
2 EDARADD NM_080738.3(EDARADD): c.335T> G (p.Leu112Arg) single nucleotide variant Pathogenic rs121908116 GRCh38 Chromosome 1, 236482366: 236482366
3 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh37 Chromosome 2, 109513638: 109513638
4 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh38 Chromosome 2, 108897182: 108897182
5 EDAR NM_022336.3(EDAR): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908453 GRCh37 Chromosome 2, 109513451: 109513451
6 EDAR NM_022336.3(EDAR): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908453 GRCh38 Chromosome 2, 108896995: 108896995
7 EDAR NM_022336.3(EDAR): c.870C> T (p.Pro290=) single nucleotide variant Benign rs3749099 GRCh38 Chromosome 2, 108907953: 108907953
8 EDAR NM_022336.3(EDAR): c.870C> T (p.Pro290=) single nucleotide variant Benign rs3749099 GRCh37 Chromosome 2, 109524409: 109524409
9 EDAR NM_022336.3(EDAR): c.822C> A (p.Ser274=) single nucleotide variant Benign/Likely benign rs79648056 GRCh38 Chromosome 2, 108908001: 108908001
10 EDAR NM_022336.3(EDAR): c.822C> A (p.Ser274=) single nucleotide variant Benign/Likely benign rs79648056 GRCh37 Chromosome 2, 109524457: 109524457
11 EDAR NM_022336.3(EDAR): c.319A> G (p.Met107Val) single nucleotide variant Benign/Likely benign rs61761321 GRCh38 Chromosome 2, 108929235: 108929235
12 EDAR NM_022336.3(EDAR): c.319A> G (p.Met107Val) single nucleotide variant Benign/Likely benign rs61761321 GRCh37 Chromosome 2, 109545691: 109545691
13 EDAR NM_022336.3(EDAR): c.1284T> A (p.Cys428Ter) single nucleotide variant Likely pathogenic rs886041005 GRCh38 Chromosome 2, 108896970: 108896970
14 EDAR NM_022336.3(EDAR): c.1284T> A (p.Cys428Ter) single nucleotide variant Likely pathogenic rs886041005 GRCh37 Chromosome 2, 109513426: 109513426
15 EDAR NM_022336.3(EDAR): c.68C> T (p.Ser23Leu) single nucleotide variant Uncertain significance rs760731007 GRCh38 Chromosome 2, 108930226: 108930226
16 EDAR NM_022336.3(EDAR): c.68C> T (p.Ser23Leu) single nucleotide variant Uncertain significance rs760731007 GRCh37 Chromosome 2, 109546682: 109546682
17 EDAR NM_022336.3(EDAR): c.284delG (p.Gly95Alafs) deletion Pathogenic rs1060499610 GRCh37 Chromosome 2, 109545726: 109545726
18 EDAR NM_022336.3(EDAR): c.284delG (p.Gly95Alafs) deletion Pathogenic rs1060499610 GRCh38 Chromosome 2, 108929270: 108929270
19 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh37 Chromosome 2, 109524376: 109524376
20 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh38 Chromosome 2, 108907920: 108907920
21 EDAR NM_022336.3(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh38 Chromosome 2, 108897135: 108897135
22 EDAR NM_022336.3(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh37 Chromosome 2, 109513591: 109513591
23 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh38 Chromosome 2, 108906315: 108906315
24 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh37 Chromosome 2, 109522771: 109522771
25 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh38 Chromosome 2, 108910783: 108910783
26 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh37 Chromosome 2, 109527239: 109527239
27 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 108897122: 108897122
28 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 109513578: 109513578
29 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh38 Chromosome 2, 108897045: 108897045
30 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh37 Chromosome 2, 109513501: 109513501
31 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh38 Chromosome 2, 108897079: 108897079
32 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh37 Chromosome 2, 109513535: 109513535
33 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh38 Chromosome 2, 108897091: 108897091
34 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh37 Chromosome 2, 109513547: 109513547
35 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 108906307: 108906307
36 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 109522763: 109522763
37 EDAR NM_022336.3(EDAR): c.813T> C (p.Asp271=) single nucleotide variant Benign rs3749098 GRCh38 Chromosome 2, 108908010: 108908010
38 EDAR NM_022336.3(EDAR): c.813T> C (p.Asp271=) single nucleotide variant Benign rs3749098 GRCh37 Chromosome 2, 109524466: 109524466
39 EDAR NM_022336.3(EDAR): c.43G> A (p.Val15Ile) single nucleotide variant Benign rs151195196 GRCh38 Chromosome 2, 108930972: 108930972
40 EDAR NM_022336.3(EDAR): c.43G> A (p.Val15Ile) single nucleotide variant Benign rs151195196 GRCh37 Chromosome 2, 109547428: 109547428
41 EDAR NM_022336.3(EDAR): c.931G> T (p.Glu311Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 108907892: 108907892
42 EDAR NM_022336.3(EDAR): c.931G> T (p.Glu311Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 109524348: 109524348
43 EDAR NM_022336.3(EDAR): c.1089delG (p.Tyr364Thrfs) deletion Pathogenic GRCh37 Chromosome 2, 109513621: 109513621
44 EDAR NM_022336.3(EDAR): c.1089delG (p.Tyr364Thrfs) deletion Pathogenic GRCh38 Chromosome 2, 108897165: 108897165
45 EDAR NM_022336.3(EDAR): c.275A> G (p.Asp92Gly) single nucleotide variant Uncertain significance rs752810615 GRCh37 Chromosome 2, 109545735: 109545735
46 EDAR NM_022336.3(EDAR): c.275A> G (p.Asp92Gly) single nucleotide variant Uncertain significance rs752810615 GRCh38 Chromosome 2, 108929279: 108929279
47 EDAR NM_022336.3(EDAR): c.175-2A> G single nucleotide variant Likely pathogenic rs757233170 GRCh38 Chromosome 2, 108929381: 108929381
48 EDAR NM_022336.3(EDAR): c.175-2A> G single nucleotide variant Likely pathogenic rs757233170 GRCh37 Chromosome 2, 109545837: 109545837
49 EDAR NM_022336.3(EDAR): c.1169dup (p.Met391Hisfs) duplication Pathogenic GRCh37 Chromosome 2, 109513541: 109513541
50 EDAR NM_022336.3(EDAR): c.1169dup (p.Met391Hisfs) duplication Pathogenic GRCh38 Chromosome 2, 108897085: 108897085

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 EDAR EDARADD TRAF6
2 10.1 EDAR EDARADD

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 cell cortex GO:0005938 8.62 KDF1 TRAF6

Biological processes 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 multicellular organism development GO:0007275 9.5 EDAR EDARADD KDF1
2 cell differentiation GO:0030154 9.33 EDAR EDARADD KDF1
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.26 EDAR TRAF6
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 EDAR EDARADD
5 odontogenesis of dentin-containing tooth GO:0042475 8.62 EDAR TRAF6

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....