NPHP3-ACAD11 gene related symptoms and diseases

All the information presented here about the NPHP3-ACAD11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NPHP3-ACAD11 gene

Symptoms // Phenotype % Cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Situs inversus totalis Very Common - Between 80% and 100% cases
Stage 5 chronic kidney disease Very Common - Between 80% and 100% cases
Renal cyst Very Common - Between 80% and 100% cases
Hepatic fibrosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NPHP3-ACAD11 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Oligohydramnios
  • Potter facies
  • Pancreatic cysts
  • Multiple glomerular cysts
  • Bile duct proliferation
  • Biliary cirrhosis
  • Pancreatic dysplasia
  • Atrial septal defect

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NPHP3-ACAD11 gene

Here you will find a list of rare diseases related to the NPHP3-ACAD11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NPHP3-RELATED MECKEL-LIKE SYNDROME


Alternate names

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst, meckel-like syndrome type 1, renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome, meckel syndrome type 7, goldston syndrome

Description

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

Most common symptoms of NPHP3-RELATED MECKEL-LIKE SYNDROME

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

SOURCES: OMIM MESH ORPHANET

NEPHRONOPHTHISIS 3; NPHP3


Alternate names

NEPHRONOPHTHISIS 3; NPHP3 Is also known as nph3

Most common symptoms of NEPHRONOPHTHISIS 3; NPHP3

  • Low-set ears
  • Anemia
  • Respiratory insufficiency
  • Renal insufficiency
  • Dilatation


More info about NEPHRONOPHTHISIS 3; NPHP3

SOURCES: OMIM MESH

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1


Alternate names

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Most common symptoms of RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

SOURCES: OMIM




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