Cholestasis, Progressive Familial Intrahepatic, 2; Pfic2

Clinical Features

Top most frequent phenotypes and symptoms related to Cholestasis, Progressive Familial Intrahepatic, 2; Pfic2

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Carcinoma
  • Pruritus
  • Cirrhosis
  • Coma

And another 9 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.

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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Cholestasis, Progressive Familial Intrahepatic, 2; Pfic2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ABCB11 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCB11
Specificity
100 %
Genes
100 %
ABCB11 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCB11
Specificity
100 %
Genes
100 %
ABCB11 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ABCB11
Specificity
100 %
Genes
100 %
ABCB11 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ABCB11
Specificity
100 %
Genes
100 %
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
100 %
ABCB11 Sequencing.

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

ABCB11
Specificity
100 %
Genes
100 %
ABCB11 Deletion/duplication analysis.

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

ABCB11
Specificity
100 %
Genes
100 %
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
100 %

We have 43 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WEILL-MARCHESANI-LIKE SYNDROME; WMSL INFANTILE SIALIC ACID STORAGE DISEASE; ISSD ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9; ARCI9 KELLEY-SEEGMILLER SYNDROME DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 CEREBRAL CAVERNOUS MALFORMATIONS; CCM CAUDAL DUPLICATION ANOMALY

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