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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
2 associated genes
36 signs/symptoms
Pediatric systemic lupus erythematosus
Wolfram syndrome

IRAK1 CISD2
PTPN22 WFS1
SPP1
STAT4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SPP1
(0.63)
CISD2



Citations in the biomedical literature:


Pediatric systemic lupus erythematosus
IRAK1 PTPN22 SPP1 STAT4
Wolfram syndrome
CISD2 WFS1



Pediatric systemic lupus erythematosus
Wolfram syndrome

Synonym(s):
- SLE, pediatric onset

Synonym(s):
- DIDMOAD syndrome
- Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

Classification (Orphanet):
- Rare neurologic disease
- Rare renal disease
- Rare respiratory disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
4 OMIM references -
1 MeSH reference: D014929

Wolfram syndrome

Very frequent
- Autosomal recessive inheritance
- Diabetes insipidus
- Diabetes mellitus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Sensorineural deafness / hearing loss

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Elocution disorders / dysarthria / dysphonia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Nystagmus
- Psychic / behavioural troubles
- Recurrent urinary infections
- Renal disease / nephropathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anaemia
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated
- Constipation
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Delirium / hallucination
- Dysautonomia / autonomous nervous sytem anomalies
- Early death / lethality
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glaucoma
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Malabsorption / chronic diarrhea / steatorrhea
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Peripheral neuropathy
- Psychic / psychomotor regression / dementia / intellectual decline
- Psychosis / schizophrenia / maniac disorder
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Sleep and vigilance disorders


Pediatric systemic lupus erythematosus

(no data available)