ZFP57 gene related symptoms and diseases

All the information presented here about the ZFP57 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZFP57 gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Transient neonatal diabetes mellitus Very Common - Between 80% and 100% cases
Hyperglycemia Very Common - Between 80% and 100% cases
Intrauterine growth retardation Very Common - Between 80% and 100% cases
Diabetes mellitus Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ZFP57 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Dehydration
  • Not very common - Between 30% and 50% cases

  • Intellectual disability
  • Growth delay
  • Abnormality of the upper urinary tract
  • Hypovolemia
  • Contractures of the joints of the lower limbs
  • Abnormality of the pancreatic islet cells
  • Elevated hemoglobin A1c

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ZFP57 gene

Here you will find a list of rare diseases related to the ZFP57. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRANSIENT NEONATAL DIABETES MELLITUS

Alternate names

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3, tndm

Description

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

Most common symptoms of TRANSIENT NEONATAL DIABETES MELLITUS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


More info about TRANSIENT NEONATAL DIABETES MELLITUS

SOURCES: ORPHANET OMIM

DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Alternate names

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1, dmtn, tndm

Description

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

Most common symptoms of DIABETES MELLITUS, TRANSIENT NEONATAL, 1

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

SOURCES: OMIM


Potential gene panels for ZFP57 gene

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel
United States.

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel
United States.

Comprehensive Neonatal Diabetes Mutation Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Neonatal Diabetes Mutation Analysis that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 HYMAI ABCC8 INS FOXP3

More info about this panel
United States.

Neonatal Diabetes Mellitus Deletion/Duplication Analysis Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Deletion/Duplication Analysis that also includes the following genes: ZFP57 EIF2AK3 GCK ABCC8 INS FOXP3 PDX1 KCNJ11

More info about this panel
United States.

Neonatal Diabetes Mellitus Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus Sequencing Panel that also includes the following genes: ZFP57 EIF2AK3 GATA4 GATA6 GCK MNX1 ABCC8 INS FOXP3 PDX1

More info about this panel
United States.

ZFP57. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ZFP57 gene.

More info about this panel
Spain.

MODY ZFP57 related (sequence analysis of ZFP57 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ZFP57 gene.

More info about this panel
Portugal.

Transient neonatal diabetes mellitus 1 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ZFP57 gene.

More info about this panel
Germany.

Neonatal Diabetes Mellitus Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Neonatal Diabetes Mellitus that also includes the following genes: ZFP57 GCK ABCC8 INS PDX1 KCNJ11

More info about this panel
Germany.

MODY panel Panel

Germany.

By Centogene AG - the Rare Disease Company MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel
Germany.

Maturity-onset diabetes of the young ZFP57 related Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZFP57 gene.

More info about this panel
Germany.

Maturity Onset Diabetes of the Young (MODY) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Maturity Onset Diabetes of the Young (MODY) that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel
Estonia.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel
United States.

ZFP57 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZFP57 gene.

More info about this panel
United States.

Comprehensive Monogenic Diabetes Panel Panel

Finland.

By Blueprint Genetics Comprehensive Monogenic Diabetes Panel that also includes the following genes: BLK SLC16A1 SLC2A2 HNF1A HNF1B KLF11 UCP2 WFS1 NEUROG3 ZFP57

More info about this panel
Finland.

Diabetes mellitus, transient neonatal, 1 Panel

Spain.

By Bioarray

This panel specifically test the ZFP57 gene.

More info about this panel
Spain.

DIABETES MODY & NEONATAL DIABETES : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DIABETES MODY & NEONATAL DIABETES : NGS PANEL that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 NEUROG3 IER3IP1 ZFP57 RFX6 PTF1A

More info about this panel
Spain.

MODY panel Panel

Canada.

By LifeLabs Genetics MODY panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL ZFP57 RFX6 GCK HNF4A ABCC8

More info about this panel
Canada.

Transient Neonatal Diabetes Mellitus Type 1 , Sequencing ZFP57 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ZFP57 gene.

More info about this panel
Spain.

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