Cytoscape Web
Click node...


7 OMIM references -
6 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 1
2 OMIM references -
1 associated gene
10 signs/symptoms
Hypotrichosis simplex
Fibronectin glomerulopathy

APCDD1 FN1
DSG4
LIPH
LPAR6
RPL21
SNRPE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RPL21
SNRPE
(0.72)
(0.72)
FN1
FN1



Citations in the biomedical literature:


Hypotrichosis simplex
APCDD1 DSG4 LIPH LPAR6 RPL21 SNRPE

Fibronectin glomerulopathy
FN1



Hypotrichosis simplex
Fibronectin glomerulopathy

Synonym(s):
- Hereditary hypotrichosis simplex

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

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the genitourinary system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
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:
7 OMIM references -
1 MeSH reference: C537160
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Hypotrichosis simplex
Fibronectin glomerulopathy

Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Alopecia
- Autosomal recessive inheritance
- Decreased body hair / axillar / pubic hairlessness
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Frequent
- Lanugo
- Woolly / frizzy hair

Occasional
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Pruritus / itching


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