CHNG7
MCID: HYP860
MIFTS: 27

Hypothyroidism, Congenital, Nongoitrous, 7 (CHNG7)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypothyroidism, Congenital, Nongoitrous, 7

MalaCards integrated aliases for Hypothyroidism, Congenital, Nongoitrous, 7:

Name: Hypothyroidism, Congenital, Nongoitrous, 7 56 29 6
Thyrotropin-Releasing Hormone Resistance, Generalized 56 73 29
Chng7 56 12 73
Central Hypothyroidism Due to Trh Receptor Deficiency 12 58
Resistance to Thyrotropin-Releasing Hormone Syndrome 12 58
Trh Resistance Syndrome 12 58
Hypothyroidism, Congenital, Non-Goitrous, 7 73
Congenital Nongoitrous Hypothyroidism 7 12

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:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0111836
OMIM 56 618573
OMIM Phenotypic Series 56 PS275200
MeSH 43 D003409
ICD10 via Orphanet 33 E03.1
Orphanet 58 ORPHA99832
MedGen 41 CN262229

Summaries for Hypothyroidism, Congenital, Nongoitrous, 7

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)

Related Diseases for Hypothyroidism, Congenital, Nongoitrous, 7

Symptoms & Phenotypes for Hypothyroidism, Congenital, Nongoitrous, 7

Human phenotypes related to Hypothyroidism, Congenital, Nongoitrous, 7:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
5 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
6 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
7 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
8 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
9 prolonged neonatal jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0006579
10 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
11 large posterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0004491
12 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
13 muscular hypotonia 58 Very frequent (99-80%)
14 abnormality of the face 58 Very frequent (99-80%)
15 large fontanelles 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Growth Other:
growth retardation

Endocrine Features:
normal to low t4
normal to high thyroid-stimulating hormone (tsh)
reduced or absent pituitary response to thyrotropin-releasing hormone (trh) stimulation

Neurologic Central Nervous System:
fatigue
lethargy

Skeletal:
delayed bone age

Clinical features from OMIM:

618573

Drugs & Therapeutics for Hypothyroidism, Congenital, Nongoitrous, 7

Search Clinical Trials , NIH Clinical Center for Hypothyroidism, Congenital, Nongoitrous, 7

Genetic Tests for Hypothyroidism, Congenital, Nongoitrous, 7

Genetic tests related to Hypothyroidism, Congenital, Nongoitrous, 7:

# Genetic test Affiliating Genes
1 Thyrotropin-Releasing Hormone Resistance, Generalized 29
2 Hypothyroidism, Congenital, Nongoitrous, 7 29 TRHR

Anatomical Context for Hypothyroidism, Congenital, Nongoitrous, 7

MalaCards organs/tissues related to Hypothyroidism, Congenital, Nongoitrous, 7:

40
Pituitary, Bone, Thyroid, Hypothalamus

Publications for Hypothyroidism, Congenital, Nongoitrous, 7

Articles related to Hypothyroidism, Congenital, Nongoitrous, 7:

# Title Authors PMID Year
1
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq. 6 56
28419241 2017
2
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism. 6 56
26735259 2016
3
A family with complete resistance to thyrotropin-releasing hormone. 6 56
19213692 2009
4
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. 6 56
9141550 1997

Variations for Hypothyroidism, Congenital, Nongoitrous, 7

ClinVar genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 7:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRHR NM_003301.6(TRHR):c.392T>C (p.Ile131Thr)SNV Pathogenic 689396 8:110100133-110100133 8:109087904-109087904
2 TRHR NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)SNV Pathogenic 12682 rs121917847 8:110099790-110099790 8:109087561-109087561
3 TRHR NM_003301.6(TRHR):c.242C>G (p.Pro81Arg)SNV Likely pathogenic 689395 8:110099983-110099983 8:109087754-109087754
4 TRHR NM_003301.6(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)indel Likely pathogenic 12681 8:110100084-110100093 8:109087855-109087864

UniProtKB/Swiss-Prot genetic disease variations for Hypothyroidism, Congenital, Nongoitrous, 7:

73
# Symbol AA change Variation ID SNP ID
1 TRHR p.Pro81Arg VAR_083282
2 TRHR p.Ile131Thr VAR_083284

Expression for Hypothyroidism, Congenital, Nongoitrous, 7

Search GEO for disease gene expression data for Hypothyroidism, Congenital, Nongoitrous, 7.

Pathways for Hypothyroidism, Congenital, Nongoitrous, 7

GO Terms for Hypothyroidism, Congenital, Nongoitrous, 7

Sources for Hypothyroidism, Congenital, Nongoitrous, 7

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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