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.
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
Search interest in ABCA5
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 United States.
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