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CHNG7
MCID: HYP860
MIFTS: 27
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Hypothyroidism, Congenital, Nongoitrous, 7 (CHNG7)
Categories:
Bone diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 7:
Characteristics:Orphanet epidemiological data:58
resistance to thyrotropin-releasing hormone syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
heterozygotes may show intermittent elevation of tsh Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Endocrine diseases Bone diseases Neuronal diseases
ICD10:
33
Orphanet: 58
Rare endocrine diseases |
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UniProtKB/Swiss-Prot :
73
Hypothyroidism, congenital, non-goitrous, 7: A form of central hypothyroidism, a disorder characterized by sub- optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin- releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue.
MalaCards based summary : Hypothyroidism, Congenital, Nongoitrous, 7, is also known as thyrotropin-releasing hormone resistance, generalized. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 7 is TRHR (Thyrotropin Releasing Hormone Receptor). Affiliated tissues include pituitary, bone and thyroid, and related phenotypes are macroglossia and coarse facial features Disease Ontology : 12 A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has material basis in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1. OMIM : 56 Nongoitrous congenital hypothyroidism-7 (CHNG7) is characterized by normal-to-low T4 and normal-to-high thyrotropin (TSH; see 188540) levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone (TRH; 613879). Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue (Collu et al., 1997; Bonomi et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of congenital nongoitrous hypothyroidism, see 275200. (618573) |
Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 7:58 31 (showing 15, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618573 |
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MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 7:40
Pituitary,
Bone,
Thyroid,
Hypothalamus
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Articles related to Hypothyroidism, Congenital, Nongoitrous, 7:(showing 4, show less)
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Genes related to Hypothyroidism, Congenital, Nongoitrous, 7 (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 7:6 (showing 4, show less)
UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 7:73 (showing 2, show less)
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Search
GEO
for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 7.
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