SMARCAD1 gene related symptoms and diseases

All the information presented here about the SMARCAD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SMARCAD1 gene

Symptoms // Phenotype % Cases
Hypohidrosis Common - Between 50% and 80% cases
Milia Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Skin rash Uncommon - Between 30% and 50% cases
Adermatoglyphia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SMARCAD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Ectodermal dysplasia
  • Palmoplantar keratoderma
  • Scarring
  • Hyperkeratosis
  • Clinodactyly
  • Flexion contracture
  • Amniotic constriction ring
  • Abnormal dermatoglyphics

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SMARCAD1 gene

Here you will find a list of rare diseases related to the SMARCAD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

Alternate names

ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME Is also known as baird syndrome, absence of dermatoglyphics-congenital milia syndrome

Description

Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

Most common symptoms of ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

  • Camptodactyly of finger
  • Skin rash
  • Abnormal blistering of the skin
  • Thin skin
  • Thickened skin


More info about ABSENCE OF FINGERPRINTS-CONGENITAL MILIA SYNDROME

SOURCES: ORPHANET

BASAN SYNDROME

Alternate names

BASAN SYNDROME Is also known as ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease, adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

Description

Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

Most common symptoms of BASAN SYNDROME

  • Flexion contracture
  • Syndactyly
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis


More info about BASAN SYNDROME

SOURCES: OMIM MESH ORPHANET

PALMOPLANTAR KERATODERMA-SCLERODACTYLY SYNDROME

Alternate names

PALMOPLANTAR KERATODERMA-SCLERODACTYLY SYNDROME Is also known as scleroatrophic syndrome, palmoplantar hyperkeratosis-sclerodactyly syndrome, sclerotylosis, huriez syndrome, scleroatrophic and keratotic dermatosis of limbs

Most common symptoms of PALMOPLANTAR KERATODERMA-SCLERODACTYLY SYNDROME

  • Neoplasm
  • Hyperhidrosis
  • Carcinoma
  • Scarring
  • Dry skin


More info about PALMOPLANTAR KERATODERMA-SCLERODACTYLY SYNDROME

SOURCES: MESH ORPHANET OMIM

ISOLATED CONGENITAL ADERMATOGLYPHIA

Alternate names

ISOLATED CONGENITAL ADERMATOGLYPHIA Is also known as congenital absence of fingerprints, immigration delay disease, fingerprints, absence of

Description

Isolated congenital adermatoglyphia is a rare, genetic developmental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.

Most common symptoms of ISOLATED CONGENITAL ADERMATOGLYPHIA

  • Flexion contracture
  • Clinodactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Ectodermal dysplasia


More info about ISOLATED CONGENITAL ADERMATOGLYPHIA

SOURCES: ORPHANET OMIM MESH


Potential gene panels for SMARCAD1 gene

SMARCAD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SMARCAD1 gene.

More info about this panel
United States.

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