ECTD10A
MCID: ECT061
MIFTS: 42

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 58 76 13 74
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 60 30 6
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 54 76
Ectd10a 58 76
Hed 58 76
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant 41
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 58
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 58
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant 54
Autosomal Dominant Anhidrotic Ectodermal Dysplasia 60
Ectodermal Dysplasia 3, Anhidrotic 45
Dysplasia, Ectodermal, Type 3 41
Ectodermal Dysplasia 3 76
Ad-Hed 60
Es-D3 17
Eda3 76
Ed3 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant hypohidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 : 58 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 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 and eye, and related phenotypes are thin skin and hypohidrosis

UniProtKB/Swiss-Prot : 76 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...

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

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypohidrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000966
3 hypotrichosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001006
4 hypodontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000668
5 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
6 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
7 premature loss of primary teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006323
8 abnormality of the fingernails 60 33 frequent (33%) Frequent (79-30%) HP:0001231
9 thick vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0012471
10 prominent forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0011220
11 malignant hyperthermia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002047
12 depressed nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000457
13 eczema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000964
14 abnormality of skin pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001000
15 abnormality of the dentition 60 Very frequent (99-80%)
16 microdontia 33 HP:0000691
17 dry skin 33 HP:0000958
18 fine hair 33 HP:0002213
19 nail dysplasia 33 HP:0002164
20 slow-growing hair 33 HP:0002217
21 sparse eyelashes 33 HP:0000653
22 ectodermal dysplasia 33 HP:0000968
23 heat intolerance 33 HP:0002046
24 anodontia 33 HP:0000674
25 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30

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:

42
Skin, Eye

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:

76
# 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.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh37 Chromosome 2, 109513591: 109513591
18 EDAR NM_022336.3(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh38 Chromosome 2, 108897135: 108897135
19 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh37 Chromosome 2, 109522771: 109522771
20 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh38 Chromosome 2, 108906315: 108906315
21 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh37 Chromosome 2, 109527239: 109527239
22 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh38 Chromosome 2, 108910783: 108910783
23 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic rs1310296844 GRCh37 Chromosome 2, 109513578: 109513578
24 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic rs1310296844 GRCh38 Chromosome 2, 108897122: 108897122
25 EDAR NM_022336.3(EDAR): c.931G> T (p.Glu311Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 109524348: 109524348
26 EDAR NM_022336.3(EDAR): c.931G> T (p.Glu311Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 108907892: 108907892
27 EDAR NM_022336.3(EDAR): c.284delG (p.Gly95Alafs) deletion Pathogenic rs1060499610 GRCh38 Chromosome 2, 108929270: 108929270
28 EDAR NM_022336.3(EDAR): c.284delG (p.Gly95Alafs) deletion Pathogenic rs1060499610 GRCh37 Chromosome 2, 109545726: 109545726
29 EDAR NM_022336.3(EDAR): c.275A> G (p.Asp92Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 108929279: 108929279
30 EDAR NM_022336.3(EDAR): c.275A> G (p.Asp92Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 109545735: 109545735
31 EDAR NM_022336.3(EDAR): c.1089delG (p.Tyr364Thrfs) deletion Pathogenic GRCh37 Chromosome 2, 109513621: 109513621
32 EDAR NM_022336.3(EDAR): c.1089delG (p.Tyr364Thrfs) deletion Pathogenic GRCh38 Chromosome 2, 108897165: 108897165
33 EDAR NM_022336.3(EDAR): c.175-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 109545837: 109545837
34 EDAR NM_022336.3(EDAR): c.175-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 108929381: 108929381
35 EDAR NM_022336.3(EDAR): c.1169dup (p.Met391Hisfs) duplication Pathogenic GRCh37 Chromosome 2, 109513541: 109513541
36 EDAR NM_022336.3(EDAR): c.1169dup (p.Met391Hisfs) duplication Pathogenic GRCh38 Chromosome 2, 108897085: 108897085
37 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic rs1553444895 GRCh37 Chromosome 2, 109522763: 109522763
38 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic rs1553444895 GRCh38 Chromosome 2, 108906307: 108906307
39 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh37 Chromosome 2, 109513547: 109513547
40 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh38 Chromosome 2, 108897091: 108897091
41 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh37 Chromosome 2, 109513535: 109513535
42 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh38 Chromosome 2, 108897079: 108897079
43 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh37 Chromosome 2, 109513501: 109513501
44 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh38 Chromosome 2, 108897045: 108897045
45 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh38 Chromosome 2, 108907920: 108907920
46 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh37 Chromosome 2, 109524376: 109524376
47 EDAR NM_022336.3(EDAR): c.292C> T (p.Arg98Trp) single nucleotide variant Likely pathogenic rs557166582 GRCh38 Chromosome 2, 108929262: 108929262
48 EDAR NM_022336.3(EDAR): c.292C> T (p.Arg98Trp) single nucleotide variant Likely pathogenic rs557166582 GRCh37 Chromosome 2, 109545718: 109545718
49 EDAR NM_022336.3(EDAR): c.1193_1194delTT (p.Phe398Terfs) deletion Pathogenic rs1553443360 GRCh38 Chromosome 2, 108897060: 108897061
50 EDAR NM_022336.3(EDAR): c.1193_1194delTT (p.Phe398Terfs) deletion Pathogenic rs1553443360 GRCh37 Chromosome 2, 109513516: 109513517

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...

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