NPHP1 gene related symptoms and diseases

All the information presented here about the NPHP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to NPHP1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Common - Between 50% and 80% cases
Nystagmus	Common - Between 50% and 80% cases
Renal insufficiency	Common - Between 50% and 80% cases
Hypertension	Common - Between 50% and 80% cases
Hepatic fibrosis	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with NPHP1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Nephronophthisis
Nephropathy
Not very common - Between 30% and 50% cases
Retinal dysplasia
Anemia
Multiple small medullary renal cysts
Congenital hepatic fibrosis
Retinal dystrophy
Polydipsia

And 114 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NPHP1 gene

Here you will find a list of rare diseases related to the NPHP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

BARDET-BIEDL SYNDROME

Alternate names

BARDET-BIEDL SYNDROME Is also known as bbs

Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement.

Most common symptoms of BARDET-BIEDL SYNDROME

Intellectual disability
Short stature
Hearing impairment
Nystagmus
Cryptorchidism

More info about BARDET-BIEDL SYNDROME

SOURCES: ORPHANET

JOUBERT SYNDROME WITH RENAL DEFECT

Alternate names

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Description

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

Most common symptoms of JOUBERT SYNDROME WITH RENAL DEFECT

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about JOUBERT SYNDROME WITH RENAL DEFECT

SOURCES: OMIM MESH ORPHANET

JUVENILE NEPHRONOPHTHISIS

More info about JUVENILE NEPHRONOPHTHISIS

SOURCES: ORPHANET

NEPHRONOPHTHISIS 1; NPHP1

Alternate names

NEPHRONOPHTHISIS 1; NPHP1 Is also known as nephronophthisis, familial juvenile, nph1

Description

Nephronophthisis is an autosomal recessive cystic kidney disease that leads to renal failure in childhood or adolescence. It is the most frequent genetic cause of renal failure in children. NPHP may be combined with extrarenal manifestations, such as liver fibrosis, situs inversus, or cardiac malformations. When nephronophthisis is combined with retinitis pigmentosa, the disorder is known as Senior-Loken syndrome (SLSN1 ); when it is combined with cerebellar vermis hypoplasia, the disorder is known as Joubert syndrome (JBTS1 ); and when it is combined with multiple developmental and neurologic abnormalities, the disorder is often known as Meckel-Gruber syndrome (MKS1 ). Because most NPHP gene products localize to the cilium or its associated structures, nephronophthisis and the related syndromes have been termed 'ciliopathies' (summary by Hoff et al., 2013).Clinical features of familial juvenile nephronophthisis include anemia, polyuria, polydipsia, isosthenuria, and death in uremia. Simms et al. (2009) provided a detailed review of nephronophthisis, including a discussion of clinical features and molecular genetics. Genetic Heterogeneity of NephronophthisisNPHP2 (OMIM ) is caused by mutation in the INVS gene (OMIM ) on chromosome 9q31; NPHP3 (OMIM ) is caused by mutation in the NPHP3 gene (OMIM ) on chromosome 3q22; NPHP4 (OMIM ) is caused by mutation in the NPHP4 gene (OMIM ) on chromosome 1p36; NPHP7 (OMIM ) is caused by mutation in the GLIS2 gene (OMIM ) on chromosome 16p13; NPHP9 (OMIM ) is caused by mutation in the NEK8 gene (OMIM ) on chromosome 17q11; NPHP11 (OMIM ) is caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q22; NPHP12 (OMIM ) is caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; NPHP13 (OMIM ) is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14; NPHP14 (OMIM ) is caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16; NPHP15 (OMIM ) is caused by mutation in the CEP164 gene (OMIM ) on chromosome 11q; NPHP16 (OMIM ) is caused by mutation in the ANKS6 gene (OMIM ) on chromosome 9q22; NPHP18 (OMIM ) is caused by mutation in the CEP83 gene (OMIM ) on chromosome 12q22; NPHP19 (OMIM ) is caused by mutation in the DCDC2 gene (OMIM ) on chromosome 6p22; and NPHP20 (OMIM ) is caused by mutation in the MAPKBP1 gene (OMIM ) on chromosome 15q13.

Most common symptoms of NEPHRONOPHTHISIS 1; NPHP1

Growth delay
Anemia
Hypertension
Renal insufficiency
Rod-cone dystrophy

More info about NEPHRONOPHTHISIS 1; NPHP1

SOURCES: OMIM ORPHANET MESH

SENIOR-LOKEN SYNDROME

Alternate names

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome, juvenile nephronophthisis with leber amaurosis, loken-senior syndrome, renal dysplasia-retinal aplasia syndrome, nephronophthisis with retinal dystrophy, slsn, renal dysplasia and retinal aplasia, senior-loken syndrome

Description

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

Most common symptoms of SENIOR-LOKEN SYNDROME

Intellectual disability
Global developmental delay
Short stature
Hearing impairment
Ataxia

More info about SENIOR-LOKEN SYNDROME

SOURCES: ORPHANET OMIM

Search interest in NPHP1

Potential gene panels for NPHP1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

NPHP1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NPHP1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to NPHP1 gene

BARDET-BIEDL SYNDROME

Alternate names

Description

Most common symptoms of BARDET-BIEDL SYNDROME

JOUBERT SYNDROME WITH RENAL DEFECT

Alternate names

Description

Most common symptoms of JOUBERT SYNDROME WITH RENAL DEFECT

JUVENILE NEPHRONOPHTHISIS

NEPHRONOPHTHISIS 1; NPHP1

Alternate names

Description

Most common symptoms of NEPHRONOPHTHISIS 1; NPHP1

SENIOR-LOKEN SYNDROME

Alternate names

Description

Most common symptoms of SENIOR-LOKEN SYNDROME

Search interest in NPHP1

Potential gene panels for NPHP1 gene

MitoMet®Plus aCGH Analysis Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Joubert Syndrome Evaluation Panel

NPHP1 DNA Deletion Test Panel

NPH1 (FJN) Molecular Analysis Panel

Bardet-Biedl Syndrome Panel Panel

Ciliopathies Panel

Comprehensive Brain Malformation Panel Panel

Joubert Syndrome Panel

Liver Diseases Deletion/duplication panel Panel

Liver Diseases Panel by next-generation sequencing (NGS) Panel

Joubert/Meckel-Gruber syndrome Panel Panel

Nephronophthisis Deletion/Duplication Panel Panel

Renal Cystic Disorders Sequencing Panel Panel

Nephronophthisis Sequencing Panel Panel

Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel

Ataxia Exome Panel Panel

ExomePLUS Cystic Disease & Dysplasia/Agenesis Panel

Comprehensive Brain Malformations Panel Panel

NPHP1, NPHP4, CEP290, RPGRIP1L, GLIS2. NextGeneDx.Complete sequencing by NGS Panel

TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, CEP41, TMEM237. NextGeneDx.Complete sequencing by NGS Panel

NPHP1. Complete sequencing Panel

NPHP1. MLPA testing Panel

Joubert syndrome (NGS panel for 24 genes) Panel

Nephronophthisis type 1 (deletion/duplication analysis on NPHP1 gene) Panel

Senior-Loken Syndrome (sequence analysis of NPHP1 gene) Panel

Nephronophthisis 1 (sequence analysis of NPHP1 gene) Panel

Joubert type 4 syndrome (sequence analysis of NPHP1 gene) Panel

Nephronophthisis (NGS panel for 19 genes) Panel

Ciliopathies (NGS panel for 90 genes) Panel

Joubert syndrome type 4 (deletion/duplication analysis of NPHP1 gene) Panel

Joubert syndrome type 4 (deletion/duplication analysis of NPHP1 gene) Panel

Nephronophthisis 1 Panel

Test for NPHP1-Related Joubert Syndrome Panel

Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel

Nephronophthisis and Joubert Syndrome via NPHP1 Gene Sequencing with CNV Detection Panel

Bardet-Biedl Syndrome Sequencing Panel with CNV Detection Panel

Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Ciliopathy Sequencing Panel with CNV Detection Panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

Nephronophthisis and related disorders NGS panel Panel

Nephronophthisis and related disorders Comprehensive panel Panel

Nephronophthisis and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders NGS panel Panel

Joubert syndrome and related disorders Deletion / Duplication panel Panel

Joubert syndrome and related disorders Comprehensive panel Panel

Nephronophthisis 1, juvenile Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Hepatic and pancreatic diseases - panels Panel

NPHP1-Related Joubert Syndrome Panel

Nephronophthisis panel Panel

Nephronophthisis type 1 Panel