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HELLPAR gene related symptoms and diseases

All the information presented here about the HELLPAR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to HELLPAR gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Hypertension Very Common - Between 80% and 100% cases
Intrauterine growth retardation Very Common - Between 80% and 100% cases
Edema Very Common - Between 80% and 100% cases
Renal insufficiency Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Commonly - More than 50% cases

  • Thrombocytopenia
  • Elevated hepatic transaminase
  • Proteinuria
  • Autoimmunity
  • Cerebral hemorrhage
  • Preeclampsia
  • Eclampsia
  • Maternal hypertension

Rare diseases associated to HELLPAR gene

Here you will find a list of rare diseases related to the HELLPAR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HELLP SYNDROME

Alternate names

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome, toxemia of pregnancy, hemolysis, elevated liver enzymes, low platelets in pregnancy, preg1, pee

Description

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

Most common symptoms of HELLP SYNDROME

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


More info about HELLP SYNDROME

SOURCES: OMIM ORPHANET MESH



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