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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
Pilomatrixoma
Hypotrichosis simplex

CTNNB1 APCDD1
DSG4
LIPH
LPAR6
RPL21
SNRPE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.49)
RPL21



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Hypotrichosis simplex
APCDD1 DSG4 LIPH LPAR6 RPL21 SNRPE



Pilomatrixoma
Hypotrichosis simplex

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Synonym(s):
- Hereditary hypotrichosis simplex

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

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

Epidemiological data:
(no data available)
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 -
1 MeSH reference: D018296
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


Pilomatrixoma

(no data available)