HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

General Information (adopted from Orphanet):

Synonyms, Signs: CHNG6
Number of Symptoms 47
OrphanetNr:
OMIM Id: 614450
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:0004482) Relative macrocephaly 44 / 7739
2
(HPO:0000158) Macroglossia 119 / 7739
3
(HPO:0000316) Hypertelorism 644 / 7739
4
(HPO:0000684) Delayed eruption of teeth 117 / 7739
5
(HPO:0002329) Drowsiness 19 / 7739
6
(HPO:0000851) Congenital hypothyroidism 16 / 7739
7
(HPO:0002930) Thyroid hormone receptor defect 5 / 7739
8
(HPO:0012559) Increased T3/T4 ratio 22168587 IBIS 2 / 7739
9
(HPO:0001374) Congenital hip dislocation 51 / 7739
10
(HPO:0002750) Delayed skeletal maturation 250 / 7739
11
(HPO:0001539) Omphalocele 102 / 7739
12
(HPO:0002019) Constipation 194 / 7739
13
(HPO:0001510) Growth delay 295 / 7739
14
(HPO:0000958) Dry skin 152 / 7739
15
(HPO:0001903) Anemia 289 / 7739
16
(OMIM) Thyroid stimulating hormone normal 1 / 7739
17
(OMIM) Difficulty with writing and drawing 1 / 7739
18
(OMIM) Multiple wormian bones 2 / 7739
19
(OMIM) Absence of hip ossification centers 1 / 7739
20
(OMIM) Placid affect 1 / 7739
21
(OMIM) Insulin-like growth factor slightly low 1 / 7739
22
(OMIM) Normal growth hormone response to provocative testing 1 / 7739
23
(OMIM) Total and free thyroxine low-normal or subnormal 1 / 7739
24
(OMIM) Slow, monotonous speech 2 / 7739
25
(OMIM) Dilated bowel 1 / 7739
26
(OMIM) Patent anterior fontanel 1 / 7739
27
(OMIM) Free thyroxine to free triiodothyronine ratio markedly low 1 / 7739
28
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
29
(OMIM) Sex-hormone binding globulin markedly elevated 1 / 7739
30
(OMIM) Total and free triiodothyronine high-normal or elevated 1 / 7739
31
(OMIM) Slow, broad-based gait 1 / 7739
32
(OMIM) Delayed intestinal transit 1 / 7739
33
(OMIM) Femoral epiphyseal dysgenesis 1 / 7739
34
(OMIM) Slow deep tendon reflexes 1 / 7739
35
(OMIM) Slow reactions 1 / 7739
36
(OMIM) Mild hypermobility and ligamentous laxity at knee and ankle 1 / 7739
37
(MedDRA:10005897) Body mass index increased 1 / 7739
38
(OMIM) Low resting heart rate 1 / 7739
39
(OMIM) Decreased basal metabolic rate 1 / 7739
40
(OMIM) Impairment of gross and fine motor coordination 1 / 7739
41
(OMIM) Low resting blood pressure 1 / 7739
42
(OMIM) Total thyroxine to total triiodothyronine ratio markedly low 1 / 7739
43
(OMIM) Thyroxine-binding globulin normal 1 / 7739
44
(OMIM) Decreased subischial leg length with normal sitting height 1 / 7739
45
(OMIM) Reduced muscle tone but normal power 1 / 7739
46
(OMIM) Growth deficit affecting lower segment of body 1 / 7739
47
(OMIM) Delayed fusion of cranial sutures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bochukova et al. (2012) described a 6-year-old girl, born of unrelated parents of white European origin, who presented with growth retardation. At 18 months of age, her height was in the tenth percentile, and the deficit persisted; in ...
Molecular genetics OMIM In a 6-year-old girl with congenital nongoitrous hypothyroidism, Bochukova et al. (2012) performed whole-exome sequencing and identified a de novo heterozygous nonsense mutation in the THRA gene (190120.0001) that generates a mutant protein that inhibits wildtype receptor action ...