ADAM10 gene related symptoms and diseases
All the information presented here about the ADAM10 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ADAM10 gene
Symptoms // Phenotype | % Cases |
---|---|
Alopecia | Uncommon - Between 30% and 50% cases |
Hyperkeratosis | Uncommon - Between 30% and 50% cases |
Erythema | Uncommon - Between 30% and 50% cases |
Hypopigmentation of the skin | Uncommon - Between 30% and 50% cases |
Parakeratosis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ADAM10 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Acantholysis
- Facial erythema
Rare diseases associated to ADAM10 gene
Here you will find a list of rare diseases related to the ADAM10. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETICULATE ACROPIGMENTATION OF KITAMURA
Alternate names
RETICULATE ACROPIGMENTATION OF KITAMURA Is also known as reticulate pigmentation of kitamura, rpk, acropigmentatio reticularis, rak, kitamura reticulate acropigmentation
Description
Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, partial alopecia, and occasionally plantar keratoderma. Histopathologically, the brown macules show pigmentation in the tip of rete ridges with thinning of the epidermis, elongation and thinning of the rete ridges, and slight hyperkeratosis without parakeratosis. Only a few inflammatory cell infiltrates and no incontinentia pigmenti are seen in the dermis (summary by Kono et al., 2013).
Most common symptoms of RETICULATE ACROPIGMENTATION OF KITAMURA
- Alopecia
- Hyperkeratosis
- Erythema
- Hypopigmentation of the skin
- Parakeratosis
More info about RETICULATE ACROPIGMENTATION OF KITAMURA
ALZHEIMER DISEASE 18; AD18
Alternate names
ALZHEIMER DISEASE 18; AD18 Is also known as alzheimer disease 18, late-onset
More info about ALZHEIMER DISEASE 18; AD18
SOURCES: OMIM
Search interest in ADAM10
Potential gene panels for ADAM10 gene
AllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelGenetic disorders with abnormal pigmentation Panel Panel
By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST
More info about this panelADAM10 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAM10 gene.
More info about this panelDowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel
By Reference Laboratory Genetics Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: POFUT1 ADAM10 ADAR POGLUT1 KRT14 KRT5
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