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.
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
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
Search interest in PCSK1
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Obesity with impaired prohormone processing Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PCSK1 gene.
More info about this panel Austria.
Obesity with impaired prohormone processing Panel
Slovakia.
By MedGene
This panel specifically test the PCSK1 gene.
More info about this panel Slovakia.
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 United States.
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 United States.
PCSK1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PCSK1 gene.
More info about this panel United States.
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 Finland.
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 United States.
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 United States.
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 Spain.
Proprotein Convertase Deficiency, Sequencing PCSK1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PCSK1 gene.
More info about this panel Spain.
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