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Lethal restrictive dermopathy

1 OMIM reference -
2 associated genes
40 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Wolfram syndrome

4 OMIM references -
2 associated genes
36 signs/symptoms

Lethal restrictive dermopathy

Wolfram syndrome

LMNA	(UniProt - OMIM)		CISD2	(UniProt - OMIM)
ZMPSTE24	(UniProt - OMIM)		WFS1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Lethal restrictive dermopathy		Wolfram syndrome
	Synonym(s): (no synonyms)		Synonym(s): - DIDMOAD syndrome - Diabetes insipidus - diabetes mellitus - optic atrophy - deafness

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

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

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


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

Lethal restrictive dermopathy		Wolfram syndrome
	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		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