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 74 13 72
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 59 29 6
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 53 74
Ectd10a 57 74
Hed 57 74
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 74
Ad-Hed 59
Eda3 74
Ed3 74

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 autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

MeSH 44 D053359
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 73 C0265331
Orphanet 59 ORPHA1810
UMLS 72 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)

MalaCards based summary : Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant, also known as autosomal dominant hypohidrotic ectodermal dysplasia, is related to clouston syndrome 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 : 74 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 53)
# Related Disease Score Top Affiliating Genes
1 clouston syndrome 31.6 EDARADD EDAR
2 hypohidrotic ectodermal dysplasia autosomal recessive 31.4 EDARADD EDAR
3 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.3 TRAF6 KDF1 EDARADD EDAR
4 incontinentia pigmenti 29.7 TRAF6 EDAR
5 ectodermal dysplasia 29.5 KDF1 EDARADD EDAR
6 tooth agenesis 29.1 EDARADD EDAR
7 witkop syndrome 12.1
8 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
9 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
10 ectodermal dysplasia and immunodeficiency 1 11.7
11 hypermobile ehlers-danlos syndrome 11.6
12 ectodermal dysplasia and immunodeficiency 2 11.5
13 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
14 ectodermal dysplasia 1, hypohidrotic, x-linked 11.2
15 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
16 ehlers-danlos syndrome, hypermobility type 11.1
17 hematopoietic stem cell transplantation 10.4
18 hidrotic ectodermal dysplasia 2 10.3
19 graft-versus-host disease 10.2
20 bacterial infectious disease 10.2
21 thrombocytopenia 10.2
22 hemolytic anemia 10.2
23 acute graft versus host disease 10.2
24 autoimmune disease 10.2
25 dengue virus 10.2
26 dengue disease 10.2
27 dengue hemorrhagic fever 10.2
28 immune deficiency disease 10.2
29 anhidrosis 10.2
30 end stage renal failure 10.2
31 keratitis, hereditary 10.0
32 pheochromocytoma 10.0
33 triiodothyronine receptor auxiliary protein 10.0
34 colorectal adenocarcinoma 10.0
35 adrenal gland pheochromocytoma 10.0
36 postural orthostatic tachycardia syndrome 10.0
37 ehlers-danlos syndrome 10.0
38 osteopetrosis 10.0
39 anodontia 10.0
40 keratosis 10.0
41 long qt syndrome 10.0
42 hypotrichosis 10.0
43 eye disease 10.0
44 herpes simplex 10.0
45 iridocyclitis 10.0
46 alopecia 10.0
47 anterior uveitis 10.0
48 lymphosarcoma 10.0
49 mast cell activation syndrome 10.0
50 multiple endocrine neoplasia 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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypohidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000966
3 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
4 hypodontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000668
5 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
6 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
7 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
8 abnormal fingernail morphology 32 frequent (33%) HP:0001231
9 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
10 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
11 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
12 malignant hyperthermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002047
13 depressed nasal ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000457
14 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
15 abnormality of the dentition 59 Very frequent (99-80%)
16 dry skin 32 HP:0000958
17 microdontia 32 HP:0000691
18 abnormality of the fingernails 59 Frequent (79-30%)
19 fine hair 32 HP:0002213
20 nail dysplasia 32 HP:0002164
21 slow-growing hair 32 HP:0002217
22 sparse eyelashes 32 HP:0000653
23 ectodermal dysplasia 32 HP:0000968
24 heat intolerance 32 HP:0002046
25 anodontia 32 HP:0000674
26 sparse and thin eyebrow 32 HP:0000535

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

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

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. 38 8
9545409 1998
2
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. 38 8
9375732 1997
3
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 8
20979233 2011
4
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 8
18231121 2008
5
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 71
17354266 2007
6
Hypohidrotic Ectodermal Dysplasia 71
20301291 2003
7
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 8
10431241 1999
8
Autosomal dominant ectodermal dysplasia. 8
3429615 1987
9
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. 38
28097853 2017
10
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. 38
27168349 2017
11
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 38
24641098 2015
12
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. 38
18384562 2008
13
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. 38
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 all 41)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EDAR NM_022336.4(EDAR): c.284del (p.Gly95fs) deletion Pathogenic rs1060499610 2:109545726-109545726 2:108929270-108929270
2 EDAR NM_022336.4(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 2:109524376-109524376 2:108907920-108907920
3 EDARADD NM_145861.3(EDARADD): c.365T> G (p.Leu122Arg) single nucleotide variant Pathogenic rs121908116 1:236645666-236645666 1:236482366-236482366
4 EDAR NM_022336.4(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 2:109513638-109513638 2:108897182-108897182
5 EDAR NM_022336.4(EDAR): c.931G> T (p.Glu311Ter) single nucleotide variant Pathogenic 2:109524348-109524348 2:108907892-108907892
6 EDAR NM_022336.4(EDAR): c.1089del (p.Tyr364fs) deletion Pathogenic 2:109513621-109513621 2:108897165-108897165
7 EDAR NM_022336.4(EDAR): c.1193_1194del (p.Leu397_Phe398insTer) deletion Pathogenic rs1553443360 2:109513516-109513517 2:108897060-108897061
8 EDAR NM_022336.4(EDAR): c.1169dup (p.Met391fs) duplication Pathogenic 2:109513541-109513541 2:108897085-108897085
9 EDAR NM_022336.4(EDAR): c.1088del (p.Thr363fs) deletion Pathogenic 2:109513622-109513622 2:108897166-108897166
10 EDAR NM_022336.4(EDAR): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908453 2:109513451-109513451 2:108896995-108896995
11 EDAR NM_022336.4(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic rs1310296844 2:109513578-109513578 2:108897122-108897122
12 EDAR NM_022336.4(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 2:109513547-109513547 2:108897091-108897091
13 EDAR NM_022336.4(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic rs1553444895 2:109522763-109522763 2:108906307-108906307
14 EDAR NM_022336.4(EDAR): c.175-2A> G single nucleotide variant Likely pathogenic 2:109545837-109545837 2:108929381-108929381
15 EDAR NM_022336.4(EDAR): c.292C> T (p.Arg98Trp) single nucleotide variant Likely pathogenic rs557166582 2:109545718-109545718 2:108929262-108929262
16 EDAR NM_022336.4(EDAR): c.1284T> A (p.Cys428Ter) single nucleotide variant Likely pathogenic rs886041005 2:109513426-109513426 2:108896970-108896970
17 EDAR NM_022336.4(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 2:109513535-109513535 2:108897079-108897079
18 EDAR NM_022336.4(EDAR): c.275A> G (p.Asp92Gly) single nucleotide variant Uncertain significance 2:109545735-109545735 2:108929279-108929279
19 EDAR NM_022336.4(EDAR): c.108C> G (p.Tyr36Ter) single nucleotide variant Uncertain significance 2:109546642-109546642 2:108930186-108930186
20 EDAR NM_022336.4(EDAR): c.656-1G> A single nucleotide variant Uncertain significance 2:109527307-109527307 2:108910851-108910851
21 EDAR NC_000002.11: g.(?_109367964)_(109579739_?)dup duplication Uncertain significance 2:109367964-109579739 2:108751508-108963283
22 EDAR NC_000002.11: g.(?_109336043)_(109579739_?)dup duplication Uncertain significance 2:109336043-109579739 2:108719587-108963283
23 EDAR NM_022336.4(EDAR): c.68C> T (p.Ser23Leu) single nucleotide variant Uncertain significance rs760731007 2:109546682-109546682 2:108930226-108930226
24 EDAR NM_022336.4(EDAR): c.146C> T (p.Pro49Leu) single nucleotide variant Uncertain significance rs375891208 2:109546604-109546604 2:108930148-108930148
25 EDAR NM_022336.4(EDAR): c.187G> A (p.Gly63Ser) single nucleotide variant Uncertain significance rs764223500 2:109545823-109545823 2:108929367-108929367
26 EDAR NM_022336.4(EDAR): c.166C> T (p.Pro56Ser) single nucleotide variant Uncertain significance rs1553448523 2:109546584-109546584 2:108930128-108930128
27 EDAR NM_022336.4(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Uncertain significance rs121908451 2:109545751-109545751 2:108929295-108929295
28 EDAR NM_022336.4(EDAR): c.1142T> C (p.Phe381Ser) single nucleotide variant Uncertain significance 2:109513568-109513568 2:108897112-108897112
29 EDAR NM_022336.4(EDAR): c.122C> A (p.Thr41Lys) single nucleotide variant Uncertain significance 2:109546628-109546628 2:108930172-108930172
30 EDAR NM_022336.4(EDAR): c.328G> A (p.Asp110Asn) single nucleotide variant Uncertain significance 2:109545682-109545682 2:108929226-108929226
31 EDAR NM_022336.4(EDAR): c.1061_1063AGA[1] (p.Lys355del) short repeat Uncertain significance 2:109513644-109513646 2:108897188-108897190
32 EDAR NM_022336.4(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 2:109513501-109513501 2:108897045-108897045
33 EDAR NM_022336.4(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 2:109513591-109513591 2:108897135-108897135
34 EDAR NM_022336.4(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 2:109522771-109522771 2:108906315-108906315
35 EDAR NM_022336.4(EDAR): c.319A> G (p.Met107Val) single nucleotide variant Benign/Likely benign rs61761321 2:109545691-109545691 2:108929235-108929235
36 EDAR NM_022336.4(EDAR): c.822C> A (p.Ser274=) single nucleotide variant Benign/Likely benign rs79648056 2:109524457-109524457 2:108908001-108908001
37 EDAR NM_022336.4(EDAR): c.870C> T (p.Pro290=) single nucleotide variant Benign rs3749099 2:109524409-109524409 2:108907953-108907953
38 EDAR NM_022336.4(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 2:109527239-109527239 2:108910783-108910783
39 EDAR NM_022336.4(EDAR): c.813T> C (p.Asp271=) single nucleotide variant Benign rs3749098 2:109524466-109524466 2:108908010-108908010
40 EDAR NM_022336.4(EDAR): c.43G> A (p.Val15Ile) single nucleotide variant Benign rs151195196 2:109547428-109547428 2:108930972-108930972
41 EDAR NM_022336.4(EDAR): c.57T> A (p.Ser19=) single nucleotide variant Benign rs28407350 2:109546693-109546693 2:108930237-108930237

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

74
# 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:

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

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 TRAF6 KDF1

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

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

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