ABCA5 gene related symptoms and diseases

All the information presented here about the ABCA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ABCA5 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Widely spaced teeth Very Common - Between 80% and 100% cases
Overgrowth Very Common - Between 80% and 100% cases
Hypertrichosis Very Common - Between 80% and 100% cases
Depressed nasal ridge Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABCA5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Gingival overgrowth
  • Low anterior hairline
  • Generalized hirsutism
  • Relative macrocephaly
  • Thick vermilion border
  • Deep philtrum
  • Peritonitis
  • Gingival fibromatosis

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ABCA5 gene

Here you will find a list of rare diseases related to the ABCA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Alternate names

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome, chromosome 17q24.2-q24.3 duplication syndrome, microdeletion 17q24.2-q24.3 syndrome, congenital generalized hypertrichosis terminalis, hirsutism-congenital gingival hyperplasia syndrome, microduplication 17q24.2-q24.

Description

Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

Most common symptoms of GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for ABCA5 gene

ABCA5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ABCA5 gene.

More info about this panel


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