ECTD11A
MCID: ECT072
MIFTS: 25

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 58 30 6 74
Ectd11a 58 76
Hed 58 76
Dysplasia, Ectodermal, Type 11a, Hypohidrotic/hair/tooth, Autosomal Dominant 41
Ectodermal Dysplasia 11a, Hypohidrotic/hair/nail Type, Autosomal Dominant 76
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 58
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 58
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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 : 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 (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)

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. An important gene associated with Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant is EDARADD (EDAR Associated Death Domain). Affiliated tissues include skin, eye and adrenal gland, and related phenotypes are absent nipple and everted lower lip vermilion

UniProtKB/Swiss-Prot : 76 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...

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 absent nipple 33 occasional (7.5%) HP:0002561
2 everted lower lip vermilion 33 HP:0000232
3 dry skin 33 HP:0000958
4 hypodontia 33 HP:0000668
5 sparse hair 33 HP:0008070
6 anhidrosis 33 HP:0000970
7 abnormality of the forehead 33 HP:0000290
8 hypohidrotic ectodermal dysplasia 33 HP:0007607
9 abnormal number of teeth 33 HP:0006483

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
Skin, 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 Year
1
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. ( 17354266 )
2007

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:

76
# 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 14)
# 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
13 EDARADD NM_145861.2(EDARADD): c.199A> T (p.Asn67Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 236427430: 236427430
14 EDARADD NM_145861.2(EDARADD): c.199A> T (p.Asn67Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 236590730: 236590730

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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