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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 2
32 OMIM references -
28 associated genes
2 signs/symptoms
17p13.3 microduplication syndrome
Primary ciliary dyskinesia

PAFAH1B1 ARMC4
YWHAE C21ORF59
CCDC103
CCDC114
CCDC39
CCDC40
CCDC65
DNAAF1
DNAAF2
DNAAF3
DNAH11
DNAH5
DNAI1
DNAI2
DNAL1
DRC1
DYX1C1
HEATR2
HYDIN
LRRC6
NME8
OFD1
RPGR
RSPH1
RSPH4A
RSPH9
SPAG1
ZMYND10


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAFAH1B1
YWHAE
(0.52)
(0.52)
DNAI1
RPGR



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Primary ciliary dyskinesia
ARMC4 C21ORF59 CCDC103 CCDC114 CCDC39 CCDC40
CCDC65 DNAAF1 DNAAF2 DNAAF3 DNAH11 DNAH5
DNAI1 DNAI2 DNAL1 DRC1 DYX1C1 HEATR2
HYDIN LRRC6 NME8 OFD1 RPGR RSPH1
RSPH4A RSPH9 SPAG1 ZMYND10



17p13.3 microduplication syndrome
Primary ciliary dyskinesia

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

Synonym(s):
- Immotile cilia syndrome

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the respiratory 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

17p13.3 microduplication syndrome
Primary ciliary dyskinesia

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
- Autosomal recessive inheritance
- Repeat respiratory infections