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AAAS

Synonyms
AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003
External resources
Summary
The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
8
Likely pathogenic
1
VUS
2,027
Likely benign
318
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carring pathogenic or likely pathogenic variants on AAAS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
66.7%
Abnormality of limbs
44.4%
Abnormality of the nervous system
44.4%
Abnormality of the cardiovascular system
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of head or neck
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the eye
11.1%
Abnormality of the genitourinary system
11.1%
Constitutional symptom
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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