Myofibromatosis, Infantile, 2; Imf2

Description

Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013).For a discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Myofibromatosis, Infantile, 2; Imf2

  • Neoplasm

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.


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Myofibromatosis, Infantile, 2; Imf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete CASASIL Evaluation.

By Athena Diagnostics Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc (United States).

SCN1A, SLC2A1, CACNA1A, PRRT2, NOTCH3, ATP1A2, POLG
Specificity
15 %
Genes
100 %
NOTCH3 (CADASIL) Sequencing Test.

By Athena Diagnostics Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Cadasil (NOTCH3).

By Center for Human Genetics, Inc (United States).

NOTCH3
Specificity
100 %
Genes
100 %
Migraine and Strokes Panel.

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

SCN1A, SLC2A1, CACNA1A, COL4A1, NOTCH3, ATP1A2, POLG, HTRA1
Specificity
13 %
Genes
100 %
CADASIL.

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

NOTCH3
Specificity
100 %
Genes
100 %
CADASIL.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

NOTCH3
Specificity
100 %
Genes
100 %

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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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