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2 OMIM references -
6 associated genes
14 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
10 signs/symptoms
Athyreosis
Fibronectin glomerulopathy

FOXE1 FN1
NKX2-1
NKX2-5
PAX8
SLC26A4
TSHR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Athyreosis
FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TSHR

Fibronectin glomerulopathy
FN1



Athyreosis
Fibronectin glomerulopathy

Synonym(s):
(no synonyms)

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

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Athyreosis
Fibronectin glomerulopathy

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Asthenia / fatigue / weakness
- Coarse face
- Constipation
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Face / facial anomalies
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Muscle weakness / flaccidity
- Sleep and vigilance disorders

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism



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