KDF1 gene related symptoms and diseases
All the information presented here about the KDF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KDF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypohidrosis | Very Common - Between 80% and 100% cases |
| Hypotrichosis | Very Common - Between 80% and 100% cases |
| Thick vermilion border | Very Common - Between 80% and 100% cases |
| Hypodontia | Very Common - Between 80% and 100% cases |
| Depressed nasal ridge | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KDF1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypoplastic sweat glands
- Abnormality of the dentition
- Prominent forehead
- Abnormality of skin pigmentation
- Eczema
- Hyperhidrosis
- Thin skin
- Hypohidrotic ectodermal dysplasia
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KDF1 gene
Here you will find a list of rare diseases related to the KDF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12
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 (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 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12
- Hyperhidrosis
- Hyperkeratosis
- Sparse hair
- Short philtrum
- Nail dystrophy
More info about ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE; ECTD12
SOURCES: OMIM
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA
Alternate names
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as autosomal dominant anhidrotic ectodermal dysplasia, ad-hed
Most common symptoms of AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA
- Abnormality of the dentition
- Prominent forehead
- Hypotrichosis
- Abnormality of skin pigmentation
- Thick vermilion border
More info about AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA
SOURCES: ORPHANET
Search interest in KDF1
Potential gene panels for KDF1 gene
Ectodermal dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ectodermal dysplasia Comprehensive panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1
More info about this panel United States.
Ectodermal dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ectodermal dysplasia Deletion / Duplication panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1
More info about this panel United States.
Ectodermal dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Ectodermal dysplasia NGS panel that also includes the following genes: EDARADD KDF1 KRT74 EDAR EDA GJB6 HOXC13 KRT85 MSX1
More info about this panel United States.
KDF1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KDF1 gene.
More info about this panel United States.
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