MAPKBP1 gene related symptoms and diseases

All the information presented here about the MAPKBP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MAPKBP1 gene

Symptoms // Phenotype % Cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MAPKBP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Polydactyly
  • Stage 5 chronic kidney disease
  • Renal cyst
  • Situs inversus totalis
  • Nephritis
  • Nephronophthisis
  • Tubulointerstitial nephritis
  • Renal fibrosis
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Rare diseases associated to MAPKBP1 gene

Here you will find a list of rare diseases related to the MAPKBP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JUVENILE NEPHRONOPHTHISIS



More info about JUVENILE NEPHRONOPHTHISIS

SOURCES: ORPHANET

NEPHRONOPHTHISIS 20; NPHP20


Description

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Most common symptoms of NEPHRONOPHTHISIS 20; NPHP20

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


More info about NEPHRONOPHTHISIS 20; NPHP20

SOURCES: OMIM

LATE-ONSET NEPHRONOPHTHISIS



More info about LATE-ONSET NEPHRONOPHTHISIS

SOURCES: ORPHANET


Potential gene panels for MAPKBP1 gene

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1

More info about this panel

Nephronophthisis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

MAPKBP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAPKBP1 gene.

More info about this panel

Nephronophthisis Panel Panel

Finland.

By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6

More info about this panel

Cystic Kidney Disease Panel Panel

Finland.

By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS

More info about this panel

Ciliopathy Panel Panel

Finland.

By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237

More info about this panel


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