1. Mendelian
  2. Rare Diseases
  3. HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Hypothyroidism, Congenital, Nongoitrous, 1; Chng1

Table of contents:

Description

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

Genes related to Hypothyroidism, Congenital, Nongoitrous, 1; Chng1

  • TSHR
  • CEP128

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Clinical Features

Top most frequent phenotypes and symptoms related to Hypothyroidism, Congenital, Nongoitrous, 1; Chng1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Feeding difficulties
  • Hypertension
  • Optic atrophy
  • Intellectual disability, severe

And another 53 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 have a estimated birth prevalence of 38 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Hypothyroidism, Congenital, Nongoitrous, 1; Chng1 Is also known as tsh resistance, hypothyroidism, congenital, due to tsh resistance, hypothyroidism, nonautoimmune, rtsh, thyrotropin resistance, hypothyroidism due to unresponsiveness to thyrotropin, thyroid-stimulating hormone, resistance to.

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.

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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