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: NCBIGENE,ORPHANET,HGNC,OMIM.

Top 5 symptoms associated to ABCA5 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Deep philtrum Very Common - Between 80% and 100% cases
Thick vermilion border Very Common - Between 80% and 100% cases
Depressed nasal ridge Very Common - Between 80% and 100% cases
Hypertrichosis Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with ABCA5 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Low anterior hairline

Not very common - Between 30% and 50% cases

Gingival overgrowth

Commonly - More than 50% cases

Overgrowth

Not very common - Between 30% and 50% cases

Generalized hirsutism

Commonly - More than 50% cases

Widely spaced teeth

Not very common - Between 30% and 50% cases

Delayed eruption of teeth

Commonly - More than 50% cases

Relative macrocephaly

Not very common - Between 30% and 50% cases

Fibroma

And 29 more phenotypes.

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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.


HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3

Alternate names

HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3 Is also known as fibromatosis, gingival, with hypertrichosis, chromosome 17q24.2-q24.3 deletion syndrome, chromosome 17q24.2-q24.3 duplication syndrome, microdeletion 17q24.2-q24.3 syndrome, microduplication 17q24.2-q24.3 syndrome, hypertrichosis terminalis, generalized, with or without gingival hyperplasia;cght; congenital generalized hypertrichosis terminalis; hirsutism-congenital gingival hyperplasia syndrome; hypertrichosis with or without gingival hyperplasia

Description

Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969).For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 (OMIM ).

Most common symptoms of HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Pica


More info about HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3

SOURCES: MONDO GARD UMLS ORPHANET SCTID OMIM MESH

Potential gene panels for ABCA5 gene

ABCA5 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the ABCA5 gene.

More info about this panel


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