Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
10 OMIM references -
12 associated genes
No signs/symptoms info
17p13.3 microduplication syndrome
Left ventricular noncompaction

PAFAH1B1 ACTC1
YWHAE DTNA
LDB3
LMNA
MIB1
MYBPC3
MYH7
MYH7B
PRDM16
TAZ
TNNT2
TPM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.52)
TAZ



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Left ventricular noncompaction
ACTC1 DTNA LDB3 LMNA MIB1 MYBPC3
MYH7 MYH7B PRDM16 TAZ TNNT2 TPM1



17p13.3 microduplication syndrome
Left ventricular noncompaction

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

Synonym(s):
- LVNC
- Left ventricular hypertrabeculation
- Spongy myocardium

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory 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: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
10 OMIM references -
No MeSH references

17p13.3 microduplication syndrome

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


Left ventricular noncompaction

(no data available)