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PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
47 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Sotos syndrome

ISG15 NFIX
NSD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.63)
NFIX



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Sotos syndrome
NFIX NSD1



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Sotos syndrome

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- Cerebral gigantism

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D058495

Sotos syndrome

Very frequent
- Advanced bone age
- Autosomal dominant inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- Frontal bossing / prominent forehead
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large ear
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Prognathism / prognathia
- Tall stature / gigantism / growth acceleration

Frequent
- Anteverted nares / nostrils
- Conductive deafness / hearing loss
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Dolichocephaly / scaphocephaly
- Generalized obesity
- Hypoglycemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Precocious puberty
- Premature eruption of teeth / natal teeth

Occasional
- Abnormal fingernails
- Cardiac septal defect
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Coarse face
- Craniostenosis / craniosynostosis / sutural synostosis
- EEG anomalies
- Genu valgum
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypereflexia
- Hypospadias / epispadias / bent penis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Neoplasms / tumors
- Patent ductus arteriosus
- Polycystic kidneys
- Psychic / behavioural troubles
- Sacrococcygeal teratoma
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)