NLRP7 gene related symptoms and diseases

All the information presented here about the NLRP7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NLRP7 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Nevus Uncommon - Between 30% and 50% cases
Abnormality of the genitourinary system Uncommon - Between 30% and 50% cases
Choriocarcinoma Uncommon - Between 30% and 50% cases

Rare diseases associated to NLRP7 gene

Here you will find a list of rare diseases related to the NLRP7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMPLETE HYDATIDIFORM MOLE


Alternate names

COMPLETE HYDATIDIFORM MOLE Is also known as complete molar pregnancy

Description

Complete hydatidiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma (see this term).


More info about COMPLETE HYDATIDIFORM MOLE

SOURCES: ORPHANET

HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1


Alternate names

HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1 Is also known as hydatidiform mole, complete, gestational trophoblastic disease, hydatidiform mole, chm, hydm

Description

A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). Genetic Heterogeneity of Recurrent Hydatidiform MoleAnother form of recurrent complete hydatidiform mole (HYDM2 ) is caused by mutation in the KHDC3L gene (OMIM ) on chromosome 6q13.

Most common symptoms of HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1

  • Neoplasm
  • Nevus
  • Abnormality of the genitourinary system
  • Choriocarcinoma


More info about HYDATIDIFORM MOLE, RECURRENT, 1; HYDM1

SOURCES: OMIM

PARTIAL HYDATIDIFORM MOLE


Alternate names

PARTIAL HYDATIDIFORM MOLE Is also known as incomplete hydatidiform mole, partial molar pregnancy, incomplete molar pregnancy

Description

Partial hydatiform mole is a type of hydatiform mole (see this term) characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage.


More info about PARTIAL HYDATIDIFORM MOLE

SOURCES: ORPHANET


Potential gene panels for NLRP7 gene

NLRP7 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NLRP7 gene.

More info about this panel

NLRP7. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the NLRP7 gene.

More info about this panel

Hydatidiform Mole (sequence analysis of NLRP7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NLRP7 gene.

More info about this panel

Autoinflammatory panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Autoinflammatory panel that also includes the following genes: SH3BP2 TNFRSF1A LPIN2 IL36RN NLRP3 NCSTN NLRP12 NLRP7 PSENEN NOD2

More info about this panel

Hydatidiform mole Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NLRP7 gene.

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

NLRP7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NLRP7 gene.

More info about this panel

Hydatidiform mole Panel

Spain.

By Bioarray

This panel specifically test the NLRP7 gene.

More info about this panel

HYDATIDIFORM MOLE Panel

Spain.

By Laboratorio de Genetica Clinica SL HYDATIDIFORM MOLE that also includes the following genes: NLRP7 KHDC3L

More info about this panel

Recurrent Hydatidiform Mole , Sequencing NLRP7 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NLRP7 gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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