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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
4 associated genes
No signs/symptoms info
Hypothyroidism due to TSH receptor mutations
Myelofibrosis with myeloid metaplasia

TSHR CALR
JAK2
MPL
TET2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSHR
TSHR
(0.73)
(0.65)
JAK2
CALR



Citations in the biomedical literature:


Hypothyroidism due to TSH receptor mutations
TSHR
Myelofibrosis with myeloid metaplasia
CALR JAK2 MPL TET2



Hypothyroidism due to TSH receptor mutations
Myelofibrosis with myeloid metaplasia

Synonym(s):
(no synonyms)

Synonym(s):
- Agnogenic myeloid metaplasia
- Idiopathic myelofibrosis
- Myelosclerosis with myeloid metaplasia
- Primary myelofibrosis

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Neoplasms -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hypothyroidism due to TSH receptor mutations

Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of skin, subcutaneous tissue and mucosae
- 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



Myelofibrosis with myeloid metaplasia

(no data available)