HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5

General Information (adopted from Orphanet):

Synonyms, Signs: CHNG5
Number of Symptoms 14
OrphanetNr:
OMIM Id: 225250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010864) Intellectual disability, severe 120 / 7739
2
(HPO:0006887) Intellectual disability, progressive 68 / 7739
3
(HPO:0100028) Ectopic thyroid 3 / 7739
4
(HPO:0000851) Congenital hypothyroidism 16 / 7739
5
(HPO:0005990) Thyroid hypoplasia 21 / 7739
6
(HPO:0001510) Growth delay 295 / 7739
7
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Hypoplastic thyroid gland 1 / 7739
10
(OMIM) Growth retardation, severe (if untreated) 5 / 7739
11
(OMIM) Ectopic thyroid gland 1 / 7739
12
(OMIM) Decreased free T(3)/free T(4) 1 / 7739
13
(OMIM) Increased TSH 1 / 7739
14
(OMIM) Hypothyroidism, nongoitrous 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Dentice et al. (2006) screened for mutations in the coding region of the NKX2-5 gene (600584) in 241 patients with congenital nongoitrous hypothyroidism, including 53 with athyreosis, 99 with thyroid ectopy, and 15 with hypoplasia, and identified 3 ...