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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.

Table of contents:

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). Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; {179850}), reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.For a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.

Most common symptoms of RETICULATE ACROPIGMENTATION OF KITAMURA

  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Hypopigmentation of the skin
  • Parakeratosis


More info about RETICULATE ACROPIGMENTATION OF KITAMURA

SOURCES: ORPHANET OMIM

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


Potential gene panels for ADAM10 gene

AllNeuro panel Panel

Germany.

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 panel
Germany.

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

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 panel
Germany.

ADAM10 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAM10 gene.

More info about this panel
United States.

Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

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

More info about this panel
Spain.

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