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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
9 signs/symptoms
17p13.3 microduplication syndrome
Cystic fibrosis

PAFAH1B1 CFTR
YWHAE CLCA4
DCTN4
STX1A
TGFB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
(0.88)
TGFB1



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Cystic fibrosis
CFTR CLCA4 DCTN4 STX1A TGFB1



17p13.3 microduplication syndrome
Cystic fibrosis

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

Synonym(s):
- CF
- Mucoviscidosis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D003550

17p13.3 microduplication syndrome
Cystic fibrosis

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
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Lung fibrosis
- Malabsorption / chronic diarrhea / steatorrhea
- Repeat respiratory infections
- Structural anomalies of the liver and the biliary tract
- Structural anomalies of the pancreas

Occasional
- Hepatomegaly / liver enlargement (excluding storage disease)