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Peripheral resistance to thyroid hormones
2 OMIM references -
2 associated genes
50 connected diseases
13 signs/symptoms
Disease Type of connection
Generalized resistance to thyroid hormone
Selective pituitary resistance to thyroid hormone
B-cell chronic lymphocytic leukemia
Amyotrophic lateral sclerosis
Mantle cell lymphoma
Multiple myeloma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Charcot-Marie-Tooth disease type 2B2
Cornelia de Lange syndrome
Estrogen resistance syndrome
5q35 microduplication syndrome
Beckwith-Wiedemann syndrome due to NSD1 mutation
Sotos syndrome
Weaver syndrome
Frontotemporal dementia with motor neuron disease
Juvenile amyotrophic lateral sclerosis
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Achondrogenesis type 1A
Fraser syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Papillary or follicular thyroid carcinoma
Alopecia universalis
Atrichia with papular lesions
Marie Unna hereditary hypotrichosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
46,XX gonadal dysgenesis
Fibrodysplasia ossificans progressiva
Intellectual disability-strabismus syndrome
Mosaic variegated aneuploidy syndrome
X-linked Emery-Dreifuss muscular dystrophy
Acute promyelocytic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Allan-Herndon-Dudley syndrome
Alveolar rhabdomyosarcoma
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Melanoma of soft part
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
THRA P10827190120
THRB P10828190160
Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia