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4 OMIM references -
2 associated genes
36 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
2 associated genes
40 signs/symptoms
Wolfram syndrome
Lethal restrictive dermopathy

CISD2 LMNA
WFS1 ZMPSTE24


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CISD2
(0.49)
LMNA



Citations in the biomedical literature:


Wolfram syndrome
CISD2 WFS1
Lethal restrictive dermopathy
LMNA ZMPSTE24



Wolfram syndrome
Lethal restrictive dermopathy

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

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal recessive inheritance
- Bladder and ureter anomalies
- Early death / lethality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis


Wolfram syndrome
Lethal restrictive dermopathy

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

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- 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
- 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
- Sleep and vigilance disorders


Very frequent
- Absent / decreased lashes
- Anomalies of teeth and dentition
- Ectropion / entropion / eyelid eversion
- External ear anomalies
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Large fontanelle / delayed fontanelle closure
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Mouth held open
- Rough trabeculation of bone
- Short / small nose
- Stillbirth / neonatal death
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Frequent
- Adrenal glands anomalies
- Anomalies of chest / thorax / trunk
- Anomalies of eyelids, eyelashes and lacrimal system
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Clavicle absent / abnormal
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Complete claw hand / camptodactyly of all fingers
- Diaphyseal anomaly
- Eyebrows anomalies
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypospadias / epispadias / bent penis
- Kyphosis
- Lanugo
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Patent ductus arteriosus
- Polyhydramnios
- Scoliosis

Occasional
- Aortic root dilatation / dilation / aneurysm
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus