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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
8 associated genes
10 signs/symptoms
17p13.3 microduplication syndrome
Narcolepsy-cataplexy

PAFAH1B1 CTSH
YWHAE HCRT
HLA-DQB1
HLA-DRB1
MOG
P2RY11
TNFSF4
ZNF365


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.63)
HLA-DRB1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Narcolepsy-cataplexy
CTSH HCRT HLA-DQB1 HLA-DRB1 MOG P2RY11
TNFSF4 ZNF365



17p13.3 microduplication syndrome
Narcolepsy-cataplexy

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
- GĂ©lineau disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
7 OMIM references -
1 MeSH reference: D009290

17p13.3 microduplication syndrome
Narcolepsy-cataplexy

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Low set ears / posteriorly rotated ears
- Short neck

Occasional
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


Very frequent
- Delirium / hallucination
- Muscle weakness / flaccidity
- Sleep and vigilance disorders
- Somnolence / hypersomnia / parasomnia
- Troubles of memory / amnesia / hypermnesia

Frequent
- Abnormal eye movements / oculomotor disorder
- Anomalies of eyes and vision

Occasional
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Generalized obesity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia