Renal-hepatic-pancreatic Dysplasia 1; Rhpd1

Clinical Features

Top most frequent phenotypes and symptoms related to Renal-hepatic-pancreatic Dysplasia 1; Rhpd1

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation
  • Short neck
  • Respiratory insufficiency
  • Atrial septal defect
  • Renal insufficiency
  • Patent ductus arteriosus

And another 40 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Renal-hepatic-pancreatic Dysplasia 1; Rhpd1 Is also known as rhpd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Renal-hepatic-pancreatic Dysplasia 1; Rhpd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Ciliopathies.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPE65, RPGR, SDCCAG8, TSC1, TSC2, CEP41, TULP1, USH1C, USH2A, CLRN1, VHL, ZIC3, NEK8, RPGRIP1, CDH23, TMEM237, PCDH15, USH1G, WHRN, TRIM32 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Joubert Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

CEP41, TMEM237, INPP5E, AHI1, B9D1, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, KIF7, MKS1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Liver Diseases Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, ABCG5, ABCG8, NPC2, INVS, CFTR, NPHP4, PEX26, TMEM216, CTRC, TRMU, DGUOK, DHCR7, CC2D2A , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
50 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago (United States).

CEP41, TMEM237, KIF14, KIAA0586, INPP5E, AHI1, B9D1, TCTN3, CEP104, TMEM216, ARL13B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, CSPP1, CEP120, TMEM138, TMEM107 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
50 %
Meckel Gruber Syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

KIF14, B9D1, TCTN3, TMEM216, TCTN2, CSPP1, TMEM107, TMEM67, B9D2, CEP290, RPGRIP1L, CC2D2A, TMEM231, MKS1, NPHP3
Specificity
7 %
Genes
50 %
Nephronophthisis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDCCAG8, NEK8, ZNF423, INVS, CEP83, DCDC2, WDR19, NPHP4, TTC21B, ANKS6, XPNPEP3, TMEM67, IQCB1, CEP290, RPGRIP1L, CEP164, GLIS2, IFT172, NPHP1, NPHP3
Specificity
5 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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