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Smith-Magenis syndrome
1 OMIM reference -
2 associated genes
32 connected diseases
72 signs/symptoms
Disease Type of connection
17p11.2 microduplication syndrome
Hereditary breast and ovarian cancer syndrome
Hereditary nonpolyposis colon cancer
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Estrogen resistance syndrome
Acute basophilic leukemia
Amyotrophic lateral sclerosis
Ataxia-telangiectasia-like disorder
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Cree leukoencephalopathy
Familial amyloid polyneuropathy
Familial pancreatic carcinoma
Familial prostate cancer
Giant cell glioblastoma
Gliosarcoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Multiple endocrine neoplasia type 1
Myxoid / round cell liposarcoma
Neurofibromatosis type 3
Ovarioleukodystrophy
Primary peritoneal carcinoma
Severe combined immunodeficiency due to DNA-PKcs deficiency
Thrombocytopenia with congenital dyserythropoietic anemia
Transthyretin-related familial amyloid cardiomyopathy
Williams syndrome
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Fraser syndrome
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Synonym(s):
- 17p11.2 microdeletion
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D058496
Gene symbol UniProt reference OMIM reference
FLII Q13045600362
RAI1 Q7Z5J4607642
Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Anodontia / oligodontia / hypodontia
- Areflexia / hyporeflexia
- Auto-aggressivity / auto-mutilation
- Brachycephaly / flat occiput
- Broad forehead
- Broad nose / nasal bridge
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Frontal bossing / prominent forehead
- Generalized obesity
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large face
- Mid-facial hypoplasia / short / small midface
- Respiratory-digestive intersection / aero-digestive cross-roads anomaly
- Short hand / brachydactyly
- Sleep and vigilance disorders
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Synophris / synophrys
- Taurodontia
- Tented upper lip
- Tics / stereotypias
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Frequent
- Abnormal gait
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Chronic / relapsing otitis
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Congenital cardiac anomaly / malformation / cardiopathy
- Constipation
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Fetal immobility / abnormal fetal movements
- Flat foot
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hyperacusia
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Hypertelorism
- Insensitivity to pain
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Myopia
- Peripheral neuropathy
- Prognathism / prognathia
- Scoliosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Strabismus / squint
- Syndactyly of toes

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Ectopic / horseshoe / fused kidneys
- Hypothyroidy
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Precocious puberty
- Restricted joint mobility / joint stiffness / ankylosis
- Retinal detachment
- Seizures / epilepsy / absences / spasms / status epilepticus
- Upper limb polydactyly / hexadactyly
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter