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Chilblain lupus
2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
HERNS syndrome
1 OMIM reference -
1 associated gene
18 signs/symptoms
Chilblain lupus
HERNS syndrome

SAMHD1
(UniProt - OMIM)
 TREX1
(UniProt - OMIM)
TREX1
(UniProt - OMIM)

COMMON
GENES 		TREX1


Citations in the biomedical literature:


Chilblain lupus
SAMHD1 TREX1
HERNS syndrome



Chilblain lupus
HERNS syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C535924
External references:
1 OMIM reference -
No MeSH references
HERNS syndrome

Very frequent
- Autosomal dominant inheritance

Frequent
- Elocution disorders / dysarthria / dysphonia
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Facial pain / cephalalgia / migraine
- Hematuria / microhematuria
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Proteinuria
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline
- Renal disease / nephropathy
- Retinal vascular anomalies / retinal telangiectasia
- Retinopathy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Transient cerebral ischemia / stroke
- Visual loss / blindness / amblyopia

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Motor deficit / trouble
- Sensitive trouble / deficit


Chilblain lupus

(no data available)