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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
4 associated genes
18 signs/symptoms
Fibronectin glomerulopathy
Monilethrix

FN1 DSG4
KRT81
KRT83
KRT86


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.63)
KRT81



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Monilethrix
DSG4 KRT81 KRT83 KRT86



Fibronectin glomerulopathy
Monilethrix

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

Synonym(s):
- Moniliform hair syndrome

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

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D056734


COMMON
SIGNS
- Autosomal dominant inheritance


Fibronectin glomerulopathy
Monilethrix

Very frequent
- 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
- Alopecia
- Anomalies of eyelids, eyelashes and lacrimal system
- Brittle hair / distrix / trichorrhexis
- Eyebrows anomalies
- Fine hair
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Nails anomalies
- slow growth of the hair

Frequent
- Anomalies of teeth and dentition

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Autosomal recessive inheritance
- Cataract / lens opacification
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Psychosis / schizophrenia / maniac disorder
- Seizures / epilepsy / absences / spasms / status epilepticus