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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
72 signs/symptoms
Ovarioleukodystrophy
Smith-Magenis syndrome

EIF2B1 FLII
EIF2B2 RAI1
EIF2B3
EIF2B4
EIF2B5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
EIF2B3
(0.63)
FLII



Citations in the biomedical literature:


Ovarioleukodystrophy
EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5
Smith-Magenis syndrome
FLII RAI1



Ovarioleukodystrophy
Smith-Magenis syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- 17p11.2 microdeletion

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease

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

Epidemiological data:
(no data available)
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 -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D058496

Smith-Magenis syndrome

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


Ovarioleukodystrophy

(no data available)