Peripheral resistance to thyroid hormones

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 97927
OMIM Id: 609893
614450
ICD-10: E03.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
4
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
5
 (HPO:0002360) Sleep disturbance Very frequent [Orphanet] 113 / 7739
6
 (HPO:0000821) Hypothyroidism Very frequent [Orphanet] 141 / 7739
7
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
8
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
9
 (HPO:0002019) Constipation Very frequent [Orphanet] 194 / 7739
10
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Very frequent [Orphanet] 55 / 7739
11
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
12
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: