ECTD11A
MCID: ECT072
MIFTS: 37

Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant (ECTD11A)

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

Aliases & Classifications for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

MalaCards integrated aliases for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

Name: Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 57 12 29 6 70
Ectd11a 57 12 72
Ectodermal Dysplasia 11a 12 15
Hed 57 72
Dysplasia, Ectodermal, Type 11a, Hypohidrotic/hair/tooth, Autosomal Dominant 39
Ectodermal Dysplasia 11a, Hypohidrotic/hair/nail Type, Autosomal Dominant 72
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 57
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 57
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111653
OMIM® 57 614940
OMIM Phenotypic Series 57 PS305100
MeSH 44 D053359
UMLS 70 C3541517

Summaries for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth 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 (HED/EDA) 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). (614940) (Updated 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant, also known as ectd11a, is related to hypohidrotic ectodermal dysplasia autosomal recessive and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant is EDARADD (EDAR Associated Death Domain), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include eye and adrenal gland, and related phenotypes are absent nipple and everted lower lip vermilion

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in heterozygous mutation in EDARADD on chromosome 1q42-q43.

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia 11A, 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 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Diseases in the Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive family:

Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Diseases related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hypohidrotic ectodermal dysplasia autosomal recessive 31.2 EDARADD EDAR
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.9 PAX9 EDARADD EDAR EDA2R EDA
3 ectodermal dysplasia 1, hypohidrotic, x-linked 30.5 EDARADD EDAR EDA2R EDA
4 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 30.4 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
5 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 30.1 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
6 incontinentia pigmenti 29.6 EDAR EDA
7 anhidrosis 29.5 EDARADD EDAR EDA
8 ectodermal dysplasia 29.4 NFKBIB EDARADD EDAR EDA2R EDA
9 hypotrichosis 29.2 EDARADD EDAR EDA
10 anodontia 28.2 PAX9 EDARADD EDAR EDA2R EDA
11 tooth agenesis 28.2 PAX9 EDARADD EDAR EDA2R EDA
12 ectodermal dysplasia and immunodeficiency 1 11.2
13 ectodermal dysplasia and immunodeficiency 2 11.0
14 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
15 clouston syndrome 10.9
16 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
17 hidrotic ectodermal dysplasia 2 10.1
18 immune deficiency disease 10.0
19 end stage renal disease 10.0
20 schopf-schulz-passarge syndrome 10.0 EDARADD EDAR
21 ectodermal dysplasia 4, hair/nail type 9.9 EDARADD EDAR
22 pompholyx 9.9 EDAR EDA
23 atrophic rhinitis 9.9 EDARADD EDA
24 atrial standstill 1 9.8
25 cardiac conduction defect 9.8
26 pheochromocytoma 9.8
27 triiodothyronine receptor auxiliary protein 9.8
28 nasopharyngeal carcinoma 9.8
29 colorectal adenocarcinoma 9.8
30 adrenal gland pheochromocytoma 9.8
31 hypertrophic cardiomyopathy 9.8
32 leiomyoma 9.8
33 osteopetrosis 9.8
34 keratosis 9.8
35 long qt syndrome 9.8
36 multiple endocrine neoplasia 9.8
37 myofibroma 9.8
38 sleep disorder 9.8
39 neuroblastoma 9.8
40 alopecia 9.8
41 lymphosarcoma 9.8
42 familial long qt syndrome 9.8
43 witkop syndrome 9.8 PAX9 EDAR
44 sweat gland disease 9.7 EDARADD EDAR EDA
45 tooth agenesis, selective, 1 9.7 PAX9 EDA
46 hair disease 9.6 EDAR EDA
47 ectodermal dysplasia 10b 8.7 PAX9 NFKBIB EDARADD EDAR EDA2R EDA

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:



Diseases related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant

Symptoms & Phenotypes for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Human phenotypes related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 absent nipple 31 occasional (7.5%) HP:0002561
2 everted lower lip vermilion 31 HP:0000232
3 dry skin 31 HP:0000958
4 hypodontia 31 HP:0000668
5 sparse hair 31 HP:0008070
6 anhidrosis 31 HP:0000970
7 absent hair 31 HP:0002298
8 abnormality of the forehead 31 HP:0000290
9 abnormal number of teeth 31 HP:0006483
10 hypohidrotic ectodermal dysplasia 31 HP:0007607

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
hypodontia

Chest Breasts:
amazia, unilateral or bilateral

Neoplasia:
ovarian teratomas containing hair and sebaceous and sweat glands developed in 1 patient

Skin Nails Hair Skin:
reduced sweating

Skin Nails Hair Hair:
brittle, sparse, or absent hair

Clinical features from OMIM®:

614940 (Updated 20-May-2021)

Drugs & Therapeutics for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant

Genetic Tests for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Genetic tests related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant 29 EDARADD

Anatomical Context for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

MalaCards organs/tissues related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

40
Eye, Adrenal Gland

Publications for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Articles related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

# Title Authors PMID Year
1
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6 57
17354266 2007
2
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. 57
26440664 2016
3
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. 57
21626677 2011
4
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 57
20979233 2011

Variations for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

ClinVar genetic disease variations for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDARADD NM_080738.4(EDARADD):c.335T>G (p.Leu112Arg) SNV Pathogenic 4189 rs121908116 GRCh37: 1:236645666-236645666
GRCh38: 1:236482366-236482366
2 EDARADD NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter) SNV Likely pathogenic 473077 rs954823206 GRCh37: 1:236645718-236645718
GRCh38: 1:236482418-236482418
3 EDARADD NM_145861.3(EDARADD):c.509G>A (p.Arg170Gln) SNV Uncertain significance 540293 rs757261515 GRCh37: 1:236645810-236645810
GRCh38: 1:236482510-236482510
4 EDARADD NM_145861.3(EDARADD):c.199A>T (p.Asn67Tyr) SNV Uncertain significance 572712 rs751704449 GRCh37: 1:236590730-236590730
GRCh38: 1:236427430-236427430
5 EDARADD NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) SNV Uncertain significance 843361 GRCh37: 1:236645693-236645693
GRCh38: 1:236482393-236482393
6 EDARADD NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) SNV Uncertain significance 1055040 GRCh37: 1:236645869-236645869
GRCh38: 1:236482569-236482569
7 EDARADD NM_145861.3(EDARADD):c.60G>A (p.Glu20=) SNV Benign 282055 rs60808129 GRCh37: 1:236557804-236557804
GRCh38: 1:236394504-236394504
8 EDARADD NM_145861.3(EDARADD):c.308C>T (p.Ser103Phe) SNV Benign 262601 rs114632254 GRCh37: 1:236645609-236645609
GRCh38: 1:236482309-236482309
9 EDARADD NM_145861.3(EDARADD):c.393G>A (p.Pro131=) SNV Benign 540294 rs139996586 GRCh37: 1:236645694-236645694
GRCh38: 1:236482394-236482394

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

72
# Symbol AA change Variation ID SNP ID
1 EDARADD p.Leu122Arg VAR_054510 rs121908116
2 EDARADD p.Asp114Tyr VAR_064835

Expression for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Search GEO for disease gene expression data for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant.

Pathways for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Pathways related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 NFKBIB EDARADD EDAR EDA2R EDA
2
Show member pathways
12.67 EDARADD EDAR EDA2R EDA
3
Show member pathways
11.99 NFKBIB EDAR EDA2R EDA
4 11.53 EDA2R EDA
5 11.27 EDARADD EDAR EDA2R EDA
6
Show member pathways
10.84 EDARADD EDAR EDA2R EDA

GO Terms for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

Cellular components related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 EDAR EDA

Biological processes related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.71 EDARADD EDAR EDA2R EDA
2 multicellular organism development GO:0007275 9.65 PAX9 EDARADD EDAR EDA2R EDA
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.51 EDA2R EDA
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.5 EDAR EDA2R EDA
5 epidermis development GO:0008544 9.49 EDAR EDA2R
6 positive regulation of JNK cascade GO:0046330 9.48 EDAR EDA2R
7 odontogenesis of dentin-containing tooth GO:0042475 9.46 EDAR EDA
8 hair follicle development GO:0001942 9.43 EDAR EDA
9 pigmentation GO:0043473 9.37 EDAR EDA
10 salivary gland cavitation GO:0060662 9.16 EDAR EDA
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.13 EDARADD EDAR EDA
12 tumor necrosis factor-mediated signaling pathway GO:0033209 8.92 EDARADD EDAR EDA2R EDA

Sources for Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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