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CHNG1
MCID: HYP374
MIFTS: 45
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Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)
Categories:
Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 1:
Characteristics:Orphanet epidemiological data:59
hypothyroidism due to tsh receptor mutations
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy most patients are asymptomatic and are detected by newborn screening variable severity ranging from asymptomatic euthyroid to severe hypothyroidism HPO:32
hypothyroidism, congenital, nongoitrous, 1:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Endocrine diseases Neuronal diseases
ICD10:
33
34
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UniProtKB/Swiss-Prot
:
75
Hypothyroidism, congenital, non-goitrous, 1: A non-autoimmune condition characterized by resistance to thyroid- stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. It presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland.
MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 1, also known as tsh resistance, is related to hyperthyroidism, nonautoimmune and hypothyroidism, congenital, nongoitrous, 2. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 1 is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are cAMP signaling pathway and G alpha (s) signalling events. Affiliated tissues include thyroid, skin and heart, and related phenotypes are hypothyroidism and muscular hypotonia Disease Ontology : 12 A congenital hypothyroidism that has material basis in mutation in the TSHR gene on chromosome 14q31. OMIM : 57 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). (275200) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:275200Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 1:59 32 (show all 15)
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MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 1:41
Thyroid,
Skin,
Heart,
Pituitary,
Testis,
T Cells
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Articles related to Hypothyroidism, Congenital, Nongoitrous, 1:
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Genes related to Hypothyroidism, Congenital, Nongoitrous, 1 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 1:75 (show all 17)
ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 1:6 (show all 40)
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Search
GEO
for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 1.
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Cellular components related to Hypothyroidism, Congenital, Nongoitrous, 1 according to GeneCards Suite gene sharing:
Biological processes related to Hypothyroidism, Congenital, Nongoitrous, 1 according to GeneCards Suite gene sharing:
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