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17p13.3 microduplication syndrome
1 OMIM reference -
2 associated genes
173 connected diseases
19 signs/symptoms
Disease Type of connection
Miller-Dieker syndrome
Subcortical band heterotopia
Distal 17p13.3 microdeletion syndrome
Lissencephaly due to LIS1 mutation
Familial isolated dilated cardiomyopathy
Precursor B-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Precursor T-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Tuberous sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Giant cell glioblastoma
Amyotrophic lateral sclerosis
Cardiofaciocutaneous syndrome
Lissencephaly due to TUBA1A mutation
Chronic myeloid leukemia
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Primary ciliary dyskinesia
2q37 microdeletion syndrome
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Camurati-Engelmann disease
Cystic fibrosis
Lissencephaly type 1 due to doublecortin gene mutation
Spinocerebellar ataxia type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Autosomal recessive spastic paraplegia type 58
Distal hereditary motor neuropathy type 7
Perry syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Peters anomaly
Uveal coloboma - cleft lip and palate - intellectual deficit
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Catecholaminergic polymorphic ventricular tachycardia
Familial short QT syndrome
Romano-Ward syndrome
Growth delay due to insulin-like growth factor I resistance
Isolated focal cortical dysplasia type IIb
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Burkitt lymphoma
Fibronectin glomerulopathy
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Leber congenital amaurosis
Senior-Loken syndrome
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Squamous cell carcinoma of head and neck
Acrodysostosis with multiple hormone resistance
Familial congenital palsy of trochlear nerve
Inherited congenital spastic tetraplegia
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Intellectual deficit, Birk-Barel type
2p21 microdeletion syndrome
Achondrogenesis type 1A
Acrocallosal syndrome
Adult-onset distal myopathy due to VCP mutation
Angelman syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant spastic paraplegia type 31
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive limb-girdle muscular dystrophy type 2H
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Bardet-Biedl syndrome
Behavioral variant of frontotemporal dementia
Bernard-Soulier syndrome
Bullous pemphigoid
Combined immunodeficiency due to STK4 deficiency
Congenital dyserythropoietic anemia type III
Congenital fibrosis of extraocular muscles
Cowden syndrome
Diffuse cutaneous systemic sclerosis
Distal hereditary motor neuropathy type 5
Estrogen resistance syndrome
FTH1-related iron overload
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial leiomyomatosis
Fetal and neonatal alloimmune thrombocytopenia
Follicular lymphoma
Fumaric aciduria
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Glycogen storage disease due to liver phosphorylase kinase deficiency
Graham Little-Piccardi-Lassueur syndrome
Greig cephalopolysyndactyly syndrome
Hereditary sensory and autonomic neuropathy type 2
Herpetic encephalitis
Hyperinsulinism due to HNF1A deficiency
Isolated ATP synthase deficiency
Isolated cytochrome C oxidase deficiency
Late-onset autosomal recessive medullary cystic kidney disease
Lethal ataxia with deafness and optic atrophy
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
MELAS syndrome
MODY syndrome
Maternally-inherited Leigh syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mosaic variegated aneuploidy syndrome
Muscular dystrophy, Selcen type
Narcolepsy without cataplexy
Occipital encephalocele
Pallister-Hall syndrome
Partial chromosome Y deletion
Phosphoribosylpyrophosphate synthetase superactivity
Polymicrogyria due to TUBB2B mutation
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Primary hyperoxaluria type 1
Progressive non-fluent aphasia
Proteus syndrome
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2E
Pyridoxine-dependent epilepsy
Pyruvate dehydrogenase E1-beta deficiency
Semantic dementia
Spastic paraplegia - Paget disease of bone
TARP syndrome
Von Willebrand disease, platelet type
X-linked Charcot-Marie-Tooth disease type 5
X-linked Emery-Dreifuss muscular dystrophy
X-linked non progressive cerebellar ataxia
X-linked nonsyndromic sensorineural deafness type DFN
Spinocerebellar ataxia type 12
Spinocerebellar ataxia type 17
Pulverulent cataract
Spinocerebellar ataxia type 14
Barth syndrome
Cone rod dystrophy
Distal 22q11.2 microdeletion syndrome
Left ventricular noncompaction
Parkinsonian-pyramidal syndrome
Primary ciliary dyskinesia - retinitis pigmentosa
Retinitis pigmentosa
Familial thoracic aortic aneurysm and aortic dissection
Moyamoya disease
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
PAFAH1B1 P43034601545
YWHAE P62258605066
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

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

- 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