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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Fibronectin glomerulopathy
Hypothyroidism due to TSH receptor mutations

FN1 TSHR


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.75)
TSHR



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Hypothyroidism due to TSH receptor mutations
TSHR



Fibronectin glomerulopathy
Hypothyroidism due to TSH receptor mutations

Synonym(s):
- GFND
- Glomerulopathy with fibronectin deposits

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Fibronectin glomerulopathy
Hypothyroidism due to TSH receptor mutations

Very frequent
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Edema of the legs / lower limbs
- Functional anomalies of the kidney and the urinary tract
- Hematuria / microhematuria
- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage


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