Short stature-delayed bone age due to thyroid hormone metabolism deficiency

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr: 171706
OMIM Id: 609698
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Peripheral hypothyroidism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002925) Thyroid-stimulating hormone excess 12 / 7739
2
(HPO:0002750) Delayed skeletal maturation 250 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dumitrescu et al. (2005) described 2 families with a specific thyroid phenotype associated with a reduction in type II iodothyronine deiodinase (DIO2; 601413) activity. In a Bedouin Saudi family, 3 of 7 sibs had abnormal thyroid function tests. ...
Molecular genetics OMIM Dumitrescu et al. (2005) performed systematic linkage analysis of genes involved in DIO2 synthesis and degradation and identified mutations in the SECISBP2 gene as the cause of the disorder. The Bedouin family carried a homozygous missense mutation in ...