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PKHD1

Synonyms
ARPKD, FCYT, FPC, PKD4, TIGM1
External resources
Summary
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1.

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
57
Likely pathogenic
67
VUS
6,505
Likely benign
4,916
Benign
3,083

Patient Phenotypes

Proportions of phenotypes among 116 patients carrying pathogenic or likely pathogenic variants on PKHD1 gene are displayed below. The following symptoms were found in patients with a variant in PKHD1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.5%
Abnormality of head or neck
24.1%
Abnormality of the ear
21.6%
Abnormality of the musculoskeletal system
21.6%
Abnormality of the eye
18.1%
Abnormality of the cardiovascular system
16.4%
Abnormality of the genitourinary system
10.3%
Abnormality of the digestive system
8.6%
Abnormality of the integument
7.8%
Growth abnormality
6.9%
Abnormality of limbs
6%
Abnormality of the immune system
6%
Abnormality of metabolism homeostasis
5.2%
Abnormality of blood and blood forming tissues
4.3%
Neoplasm
4.3%
Abnormality of the respiratory system
3.4%
Abnormality of the endocrine system
2.6%
Abnormality of prenatal development or birth
1.7%
Abnormal cellular phenotype
0.9%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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