MCID: ECT072
MIFTS: 23

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

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases, Bone 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 29 6 73
Ectd11a 57 75
Hed 57 75
Dysplasia, Ectodermal, Type 11a, Hypohidrotic/hair/tooth, Autosomal Dominant 40
Ectodermal Dysplasia 11a, Hypohidrotic/hair/nail Type, Autosomal Dominant 75
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 57
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 57
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 : 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). 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, hypohidrotic, with immune deficiency. An important gene associated with Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant is EDARADD (EDAR Associated Death Domain). Affiliated tissues include skin and eye, and related phenotypes are everted lower lip vermilion and dry skin

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
2 ectodermal dysplasia, hypohidrotic, with immune deficiency 11.6
3 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.6
4 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 everted lower lip vermilion 32 HP:0000232
2 dry skin 32 HP:0000958
3 hypodontia 32 HP:0000668
4 sparse hair 32 HP:0008070
5 anhidrosis 32 HP:0000970
6 absent nipple 32 occasional (7.5%) HP:0002561
7 abnormality of the forehead 32 HP:0000290
8 hypohidrotic ectodermal dysplasia 32 HP:0007607
9 abnormal number of teeth 32 HP:0006483

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:

41
Skin, Eye

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

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:

75
# 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
(show all 12)
# 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 EDARADD NM_145861.2(EDARADD): c.308C> T (p.Ser103Phe) single nucleotide variant Benign/Likely benign rs114632254 GRCh37 Chromosome 1, 236645609: 236645609
4 EDARADD NM_145861.2(EDARADD): c.308C> T (p.Ser103Phe) single nucleotide variant Benign/Likely benign rs114632254 GRCh38 Chromosome 1, 236482309: 236482309
5 EDARADD NM_145861.2(EDARADD): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs60808129 GRCh37 Chromosome 1, 236557804: 236557804
6 EDARADD NM_145861.2(EDARADD): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs60808129 GRCh38 Chromosome 1, 236394504: 236394504
7 EDARADD NM_145861.2(EDARADD): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs954823206 GRCh37 Chromosome 1, 236645718: 236645718
8 EDARADD NM_145861.2(EDARADD): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs954823206 GRCh38 Chromosome 1, 236482418: 236482418
9 EDARADD NM_145861.2(EDARADD): c.393G> A (p.Pro131=) single nucleotide variant Benign rs139996586 GRCh37 Chromosome 1, 236645694: 236645694
10 EDARADD NM_145861.2(EDARADD): c.393G> A (p.Pro131=) single nucleotide variant Benign rs139996586 GRCh38 Chromosome 1, 236482394: 236482394
11 EDARADD NM_145861.2(EDARADD): c.509G> A (p.Arg170Gln) single nucleotide variant Uncertain significance rs757261515 GRCh38 Chromosome 1, 236482510: 236482510
12 EDARADD NM_145861.2(EDARADD): c.509G> A (p.Arg170Gln) single nucleotide variant Uncertain significance rs757261515 GRCh37 Chromosome 1, 236645810: 236645810

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...

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

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

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