MCID: ECT072
MIFTS: 33

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

Categories: Genetic diseases, Rare diseases, Oral diseases, Fetal diseases, Skin diseases, Eye 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 53 28 69
Ectd11a 53 71
Hed 53 71
Ectodermal Dysplasia 11a, Hypohidrotic/hair/nail Type, Autosomal Dominant 71
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 53
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 53
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



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

OMIM : 53 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). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. (614940)

MalaCards based summary : Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant, also known as ectd11a, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, and has symptoms including everted lower lip vermilion, abnormality of the forehead and hypodontia. 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 is TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include skin and eye, and related phenotype is pigmentation.

UniProtKB/Swiss-Prot : 71 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...

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...

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
hypodontia

Skin Nails Hair Skin:
reduced sweating

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

Chest Breasts:
amazia, unilateral or bilateral

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


Clinical features from OMIM:

614940

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

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

MGI Mouse Phenotypes related to Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 EDAR EDARADD

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 28 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:

38
Skin, Eye

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

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

# Title Authors Year
1
Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED). ( 25159892 )
2014
2
Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. ( 23687000 )
2013
3
Functional Imaging of Pheochromocytoma with Ga-DOTATOC and C-HED in a Genetically Defined Rat Model of Multiple Endocrine Neoplasia. ( 21755051 )
2011
4
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). ( 20499091 )
2010
5
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. ( 19029074 )
2008
6
Hypohidrotic ectodermal dysplasia (HED). ( 16441993 )
2006
7
[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families]. ( 12947561 )
2003
8
Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). ( 11484156 )
2001
9
A clinico-pathologic presentation. Hereditary hypohidrotic ectodermal dysplasia, or HED. ( 9520670 )
1996

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

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

71
# Symbol AA change Variation ID SNP ID
1 EDARADD p.Leu122Arg VAR_054510 rs121908116
2 EDARADD p.Asp114Tyr VAR_064835

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

6
# 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 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh37 Chromosome 2, 109513638: 109513638
3 EDAR NM_022336.3(EDAR): c.1259G> A (p.Arg420Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908453 GRCh37 Chromosome 2, 109513451: 109513451
4 EDAR NM_022336.3(EDAR): c.284delG (p.Gly95Alafs) deletion Pathogenic rs1060499610 GRCh37 Chromosome 2, 109545726: 109545726
5 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh37 Chromosome 2, 109524376: 109524376
6 EDARADD NM_145861.2(EDARADD): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs954823206 GRCh37 Chromosome 1, 236645718: 236645718

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
10.54 EDAR EDARADD

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

Biological processes 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 cell differentiation GO:0030154 8.96 EDAR EDARADD
2 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 EDAR EDARADD

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

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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32 ICD10
33 ICD10 via Orphanet
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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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