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LPIN1

Synonyms
PAP1
External resources
Summary
This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is required for adipocyte differentiation and it also functions as a nuclear transcriptional coactivator with some peroxisome proliferator-activated receptors to modulate expression of other genes involved in lipid metabolism. Mutations in this gene are associated with metabolic syndrome, type 2 diabetes, acute recurrent rhabdomyolysis, and autosomal recessive acute recurrent myoglobinuria (ARARM). This gene is also a candidate for several human lipodystrophy syndromes.

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
19
Likely pathogenic
16
VUS
6,931
Likely benign
3,230
Benign
612

Patient Phenotypes

Proportions of phenotypes among 35 patients carrying pathogenic or likely pathogenic variants on LPIN1 gene are displayed below. The following symptoms were found in patients with a variant in LPIN1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.1%
Abnormality of head or neck
34.3%
Abnormality of the musculoskeletal system
31.4%
Abnormality of the eye
25.7%
Abnormality of the cardiovascular system
22.9%
Growth abnormality
22.9%
Abnormality of the immune system
17.1%
Abnormality of limbs
14.3%
Abnormality of the digestive system
14.3%
Abnormality of the ear
14.3%
Abnormality of the integument
14.3%
Abnormality of the endocrine system
11.4%
Abnormality of the respiratory system
11.4%
Abnormality of blood and blood forming tissues
5.7%
Abnormality of the genitourinary system
5.7%
Abnormality of metabolism homeostasis
2.9%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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