Hashimoto-pritzker Syndrome

Description

Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis (see this term) characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules).

Clinical Features

Phenotypes and symptoms related to Hashimoto-pritzker Syndrome

  • Nystagmus
  • Retinopathy
  • Papule
  • Osteolysis
  • Diabetes insipidus
  • Skin nodule
  • Histiocytosis
  • Bronchogenic cyst
  • Hypomelanotic macule

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.

Alternative names

Hashimoto-pritzker Syndrome Is also known as congenital langerhans cell histiocytosis.

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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Hashimoto-pritzker Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BRAF Sequence Analysis.

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100 %
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BRAF Sequence Analysis (Prenatal Diagnosis).

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100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

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4 %
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Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

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Specificity
2 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

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Specificity
2 %
Genes
100 %
NGS RASopathy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

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Specificity
5 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

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Specificity
1 %
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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Genetic Syndrome Finder

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