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EDA2R gene related symptoms and diseases

All the information presented here about the EDA2R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to EDA2R gene

Symptoms // Phenotype % Cases
Hoarse voice Very Common - Between 80% and 100% cases
Sparse and thin eyebrow Very Common - Between 80% and 100% cases
Hypodontia Very Common - Between 80% and 100% cases
Ectodermal dysplasia Very Common - Between 80% and 100% cases
Microdontia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EDA2R gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Anterior hypopituitarism
  • Depressed nasal ridge
  • Thin skin
  • Hypohidrosis
  • Heat intolerance
  • Delayed eruption of teeth
  • Type I diabetes mellitus
  • Anodontia

And 54 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EDA2R gene

Here you will find a list of rare diseases related to the EDA2R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Alternate names

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed, ectd1, cst syndrome, ed1, christ-siemens-touraine syndrome, eda1, eda, ectodermal dysplasia, anhidrotic, x-linked, ectodermal dysplasia, hypohidrotic, 1, x-linked anhidrotic ectodermal dysplasia, hed1, xlhed, ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Description

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. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

Most common symptoms of X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

SOURCES: OMIM ORPHANET

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Alternate names

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda, ectodermal dysplasia, hypohidrotic, hed, ectodermal dysplasia, anhidrotic

Description

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).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Most common symptoms of ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

SOURCES: OMIM


Potential gene panels for EDA2R gene

Ectodermal dysplasia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ectodermal dysplasia that also includes the following genes: TRAF6 WNT10A EDARADD TP63 CDH3 EDA2R EDAR EDA GJB6 IKBKG

More info about this panel
Spain.

EDA2R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EDA2R gene.

More info about this panel
United States.

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