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17q11 microdeletion syndrome
1 OMIM reference -
3 associated genes
174 connected diseases
No signs/symptoms info
Disease Type of connection
17q11.2 microduplication syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Noonan syndrome
Overgrowth - macrocephaly - facial dysmorphism
Watson syndrome
Acute promyelocytic leukemia
Amyotrophic lateral sclerosis
Desmoplastic small round cell tumor
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Williams syndrome
Familial pancreatic carcinoma
Autosomal dominant nonsyndromic intellectual deficit
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Precursor T-cell acute lymphoblastic leukemia
46,XY partial gonadal dysgenesis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Dyskeratosis congenita
Retinitis pigmentosa
Synovial sarcoma
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Weaver syndrome
Ewing sarcoma
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Cabezas syndrome
ICF syndrome
Anaplastic ependymoma
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Costello syndrome
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Linear nevus sebaceus syndrome
Phakomatosis pigmentokeratotica
Primary peritoneal carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
Burkitt lymphoma
22q11.2 deletion syndrome
3-phosphoglycerate dehydrogenase deficiency
8p23.1 microdeletion syndrome
Acrokeratosis verruciformis of Hopf
Acute necrotizing encephalopathy of childhood
Aicardi-Goutières syndrome
Angelman syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Atrial septal defect, ostium secundum type
Atypical glycine encephalopathy
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Larsen syndrome
Autosomal dominant hyper-IgE syndrome
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive ataxia, Beauce type
Autosomal recessive cutis laxa type 2B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive myogenic arthrogryposis multiplex congenita
Autosomal recessive primary microcephaly
Baraitser-Winter syndrome
Berardinelli-Seip congenital lipodystrophy
Bohring-Opitz syndrome
Boomerang dysplasia
Cerebellar ataxia-deafness-narcolepsy syndrome
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4D
Coffin-Siris syndrome
Combined oxidative phosphorylation defect type 4
Complete androgen insensitivity syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Cornelia de Lange syndrome
Darier disease
Denys-Drash syndrome
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Diffuse cutaneous systemic sclerosis
Dyschromatosis symmetrica hereditaria
Early-onset spastic ataxia-neuropathy syndrome
Epidermolysis bullosa simplex due to plakophilin deficiency
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Essential thrombocythemia
Familial acute necrotizing encephalopathy
Familial atrial fibrillation
Familial hypospadias
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial infantile bilateral striatal necrosis
Familial rhabdoid tumor
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Frasier syndrome
Frontotemporal dementia with motor neuron disease
Geroderma osteodysplastica
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Heritable pulmonary arterial hypertension
Hoyeraal-Hreidarsson syndrome
Idiopathic hypereosinophilic syndrome
Infantile glycine encephalopathy
Inflammatory myofibroblastic tumor
Juvenile amyotrophic lateral sclerosis
Kennedy disease
Ligneous conjunctivitis
Limited cutaneous systemic sclerosis
Mandibulofacial dysostosis-microcephaly syndrome
Meacham syndrome
Microcephalic osteodysplastic primordial dwarfism type 2
Miller-Dieker syndrome
Mosaic variegated aneuploidy syndrome
Myelofibrosis with myeloid metaplasia
Myxoid / round cell liposarcoma
Nager syndrome
Neonatal glycine encephalopathy
Oculopharyngeal muscular dystrophy
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
PYCR1-related DeBarsy syndrome
Partial acquired lipodystrophy
Partial androgen insensitivity syndrome
Partial atrioventricular canal
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Proximal myotonic myopathy
Richieri Costa-Pereira syndrome
Romano-Ward syndrome
Seckel syndrome
Severe X-linked mitochondrial encephalomyopathy
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Single ventricular septal defect
Spinocerebellar ataxia type 28
Split hand-split foot malformation
Spondylocarpotarsal synostosis
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Tetralogy of Fallot
Thrombocytopenia - absent radius
Triose phosphate-isomerase deficiency
WAGR syndrome
Wolcott-Rallison syndrome
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
Xq27.3q28 duplication syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
- Del(17)(q11)
- Monosomy 17q11
- NF1 microdeletion syndrome
- Neurofibromatosis type 1 microdeletion syndrome

Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

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

Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
NF1 P21359613113
RNF135 Q8IUD6611358
SUZ12 Q15022606245
No signs/symptoms info available.