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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
6 associated genes
12 signs/symptoms
Spinocerebellar ataxia type 36
Hypotrichosis simplex

NOP56 APCDD1
DSG4
LIPH
LPAR6
RPL21
SNRPE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NOP56
(0.63)
RPL21



Citations in the biomedical literature:


Spinocerebellar ataxia type 36
NOP56
Hypotrichosis simplex
APCDD1 DSG4 LIPH LPAR6 RPL21 SNRPE



Spinocerebellar ataxia type 36
Hypotrichosis simplex

Synonym(s):
- SCA36

Synonym(s):
- Hereditary hypotrichosis simplex

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: C537160

Hypotrichosis simplex

Very frequent
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Alopecia
- Autosomal dominant inheritance
- 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


Spinocerebellar ataxia type 36

(no data available)