Paroxysmal Nocturnal Hemoglobinuria 2; Pnh2

Clinical Features

Top most frequent phenotypes and symptoms related to Paroxysmal Nocturnal Hemoglobinuria 2; Pnh2

  • Pain
  • Anemia
  • Fatigue
  • Diarrhea
  • Headache
  • Abdominal pain
  • Dyspnea
  • Arthralgia
  • Hemolytic anemia
  • Urticaria

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (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.

Paroxysmal Nocturnal Hemoglobinuria 2; Pnh2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Multiple congenital anomalies-hypotonia-seizures syndrome type 3.

By Centogene AG - the Rare Disease Company (Germany).

PIGT
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC (Estonia).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
PIGT.

By Fulgent Genetics Fulgent Genetics (United States).

PIGT
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

You can get up to -2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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