Watson Syndrome; Wtsn

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991).

Genes related to Watson Syndrome; Wtsn

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Clinical Features

Top most frequent phenotypes and symptoms related to Watson Syndrome; Wtsn

Intellectual disability
Short stature
Hearing impairment
Macrocephaly
Pulmonic stenosis
Abnormality of the cardiovascular system
Cafe-au-lait spot
Relative macrocephaly
Neurofibromas
Multiple cafe-au-lait spots

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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

Watson Syndrome; Wtsn Is also known as cafe-au-lait spots with pulmonic stenosis, pulmonic stenosis with cafe-au-lait spots.

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.

Watson Syndrome; Wtsn Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis Type 1 (NF1) Evaluation. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis Type 1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). NF1 Specificity 100 % 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 , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 5 % Genes 100 %
Neurofibromatosis Syndrome Type 1. By Center for Human Genetics, Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis-Noonan syndrome. By Center for Human Genetics, Inc (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis 1 Sequencing. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). NF1 Specificity 100 % Genes 100 %
Neurofibromatosis 1 Deletion/Duplication analysis. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). NF1 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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