Thyroid Carcinoma, Familial Medullary; Mtc

Description

Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

Clinical Features

Top most frequent phenotypes and symptoms related to Thyroid Carcinoma, Familial Medullary; Mtc

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma
  • Lymphadenopathy
  • Lymphoma
  • Aganglionic megacolon
  • Hoarse voice
  • Goiter

And another 10 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.

Alternative names

Thyroid Carcinoma, Familial Medullary; Mtc Is also known as mtc1, fmtc.

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.

Thyroid Carcinoma, Familial Medullary; Mtc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Early Onset Hereditary Sensory and Autonomic Neuropathy (HSAN) Evaluation.

By Athena Diagnostics Inc (United States).

WNK1, NTRK1
Specificity
50 %
Genes
50 %
NTRK1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NTRK1
Specificity
100 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
50 %
NTRK1 Gene Sequencing.

By GeneDx (United States).

NTRK1
Specificity
100 %
Genes
50 %
NTRK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NTRK1
Specificity
100 %
Genes
50 %
NTRK1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NTRK1
Specificity
100 %
Genes
50 %
Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes).

By CGC Genetics (Portugal).

SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
50 %

You can get up to 310 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 Symptoms Checker

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