Abnormality of the skeletal system, and Polycystic kidney dysplasia

Diseases related with Abnormality of the skeletal system and Polycystic kidney dysplasia

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Polycystic kidney dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match MECKEL SYNDROME, TYPE 11; MKS11


Related symptoms:

  • Polydactyly
  • Oligohydramnios
  • Encephalocele
  • Polycystic kidney dysplasia
  • Occipital encephalocele


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 11; MKS11

Low match GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA


Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal convoluted tubule. Both sporadic and familial occurrences have been observed. Sharp et al. (1997) noted that GCKD had primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (PKD). However, dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. Hypoplastic GCKD has been identified in some families with mutations in the TCF2 gene (OMIM ) as part of the clinical phenotype of renal cysts and diabetes syndrome (OMIM ).

Related symptoms:

  • Renal insufficiency
  • Dilatation
  • Proteinuria
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


SOURCES: MESH OMIM MENDELIAN

More info about GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA

Low match POLYCYSTIC KIDNEY DISEASE 5; PKD5


PKD5, a form of autosomal recessive polycystic kidney disease (ARPKD), is characterized by early childhood onset of progressive renal dysfunction associated with enlarged hyperechogenic kidneys that often results in end-stage renal disease in the second or third decade of life. Arterial hypertension is apparent in early childhood (summary by Lu et al., 2017).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Hepatic fibrosis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 5; PKD5

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS


Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS Is also known as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|chromosome 16p13.3 deletion syndrome, distal

Related symptoms:

  • Abnormality of the kidney
  • Renal cyst
  • Multicystic kidney dysplasia
  • Polycystic kidney dysplasia
  • Renal angiomyolipoma


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE TYPE 1 WITH TUBEROUS SCLEROSIS

Low match XANTHINURIA TYPE II


Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.

XANTHINURIA TYPE II Is also known as xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xdh and aox dual deficiency

Related symptoms:

  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Recurrent urinary tract infections
  • Nephrolithiasis
  • Polycystic kidney dysplasia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about XANTHINURIA TYPE II

Low match POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6


Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Renal cyst


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6

Low match NEPHRONOPHTHISIS 14; NPHP14


Related symptoms:

  • Abnormality of the kidney
  • Retinal degeneration
  • Cerebellar vermis hypoplasia
  • Situs inversus totalis
  • Polycystic kidney dysplasia


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 14; NPHP14

Low match POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3


Polycystic kidney disease-3, a form of autosomal dominant PKD (ADPKD), is characterized by renal cysts, often associated with liver cysts, that may lead to organ dysfunction. Affected individuals usually present in mid to late adulthood with progressive cysts in the kidney and/or liver. The renal disease is relatively mild, and only some patients develop hypertension; renal insufficiency usually does not occur. The liver disease shows a wide spectrum of severity: some patients have no cysts, whereas others have severe liver involvement (summary by Porath et al., 2016).For a discussion of genetic heterogeneity of PKD, see PKD1 (OMIM ).

POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3 Is also known as apkd3|polycystic kidney disease, adult, type iii

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Dilatation
  • Abnormality of the kidney
  • Abnormality of the liver


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD3

Low match NEPHRONOPHTHISIS 16; NPHP16


Related symptoms:

  • Cardiomyopathy
  • Renal insufficiency
  • Patent ductus arteriosus
  • Hypertrophic cardiomyopathy
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 16; NPHP16

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Abnormality of the kidney Common - Between 50% and 80% cases
Renal cyst Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Polycystic kidney dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatic cysts Situs inversus totalis

Rare Symptoms - Less than 30% cases


Multicystic kidney dysplasia Oligohydramnios Hepatic fibrosis Multiple glomerular cysts Nephronophthisis Dilatation Recurrent urinary tract infections Cardiomyopathy Pulmonic stenosis Polycystic liver disease Dilatation of the cerebral artery Patent ductus arteriosus Hypertrophic cardiomyopathy Polydactyly Cholestasis Aortic valve stenosis Enlarged kidney Midface retrusion Decreased liver function Facial asymmetry Hematuria Nephropathy Dextrocardia Elevated serum creatinine Respiratory failure Gout Abnormality of the liver Cortical tubers Encephalocele Occipital encephalocele Proteinuria Hyperuricemia Abnormality of the renal tubule Hyperechogenic kidneys Renal angiomyolipoma Nephrolithiasis Congenital blindness Acute kidney injury Myositis Hypouricemia Xanthinuria Decreased glomerular filtration rate Retinal degeneration Cerebellar vermis hypoplasia Renal cortical cysts



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