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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
7 OMIM references -
6 associated genes
12 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Hypotrichosis simplex

CACNG2 APCDD1
CDH15 DSG4
CTNNB1 LIPH
DOCK8 LPAR6
DYNC1H1 RPL21
DYRK1A SNRPE
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Hypotrichosis simplex
APCDD1 DSG4 LIPH LPAR6 RPL21 SNRPE



Autosomal dominant nonsyndromic intellectual deficit
Hypotrichosis simplex

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary hypotrichosis simplex

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: -
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:
13 OMIM references -
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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)