PCSK1 gene related symptoms and diseases

All the information presented here about the PCSK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PCSK1 gene

Symptoms // Phenotype % Cases
Growth delay Uncommon - Between 30% and 50% cases
Decreased circulating cortisol level Uncommon - Between 30% and 50% cases
Glucose intolerance Uncommon - Between 30% and 50% cases
Diabetes insipidus Uncommon - Between 30% and 50% cases
Polyphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PCSK1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Maternal diabetes
  • Villous atrophy
  • Pituitary hypothyroidism
  • Gonadotropin deficiency
  • Polydipsia
  • Red hair
  • Hypoglycemic seizures
  • Central adrenal insufficiency

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PCSK1 gene

Here you will find a list of rare diseases related to the PCSK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY


Alternate names

OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY Is also known as obesity and endocrinopathy due to impaired processing of prohormones, pci deficiency

Description

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

Most common symptoms of OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Obesity
  • Delayed skeletal maturation


More info about OBESITY DUE TO PROHORMONE CONVERTASE I DEFICIENCY

SOURCES: MESH ORPHANET OMIM

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12


Alternate names

BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12 Is also known as obesity, susceptibility to


More info about BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12; BMIQ12

SOURCES: OMIM


Potential gene panels for PCSK1 gene

PCSK1 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PCSK1 gene.

More info about this panel

PCSK1 Sequence Analysis (Familial Mutation/Variant Analysis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the PCSK1 gene.

More info about this panel

Monogenic Obesity Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Monogenic Obesity Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Monogenic Obesity Deletion/Duplication Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 AFF4 PHF6 SETD2 BBS7 TTC8

More info about this panel

Congenital Diarrhea Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Congenital Diarrhea Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR

More info about this panel

Obesity due to prohormone convertase I deficiency (sequence analysis of PCSK1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PCSK1 gene.

More info about this panel

Non-Syndromic Monogenic Obesity via PCSK1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PCSK1 gene.

More info about this panel

Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E SOX10 SOX2 SOX3 TAC3 TACR3 WDR11 SPRY4 PROKR2

More info about this panel

Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-Syndromic Monogenic Obesity Sequencing Panel with CNV Detection that also includes the following genes: SIM1 UCP3 KSR2 SH2B1 LEP LEPR MC4R NR0B2 NTRK2 PCSK1

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel

Obesity with impaired prohormone processing Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PCSK1 gene.

More info about this panel

Obesity with impaired prohormone processing Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PCSK1 gene.

More info about this panel

Obesity with impaired prohormone processing Panel

Slovakia.

By MedGene

This panel specifically test the PCSK1 gene.

More info about this panel

Congenital Obesity: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Obesity: Sequencing Panel that also includes the following genes: SDCCAG8 SIM1 ARL6 TRIM32 PHF6 BBS7 TTC8 VPS13B BBS10 BBS12

More info about this panel

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel

PCSK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PCSK1 gene.

More info about this panel

Monogenic Obesity Panel Panel

Finland.

By Blueprint Genetics Monogenic Obesity Panel that also includes the following genes: SDCCAG8 SIM1 UCP3 ARL6 TRIM32 PHF6 KSR2 BBS7 TTC8 VPS13B

More info about this panel

Early Onset Obesity NGS and Deletion/Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Early Onset Obesity NGS and Deletion/Duplication Panel that also includes the following genes: LEP LEPR MC4R PCSK1 POMC

More info about this panel

PCSK1 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the PCSK1 gene.

More info about this panel

MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY that also includes the following genes: LEP LEPR MC3R MC4R PCSK1 POMC

More info about this panel

Proprotein Convertase Deficiency, Sequencing PCSK1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PCSK1 gene.

More info about this panel


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