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HERNS syndrome
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
B-cell chronic lymphocytic leukemia
6 OMIM references -
7 associated genes
No signs/symptoms info
HERNS syndrome
B-cell chronic lymphocytic leukemia

TREX1
(UniProt - OMIM)
 ARL11
(UniProt - OMIM)
ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGHG1
(UniProt - OMIM)
IGHV3-21
()
POT1
(UniProt - OMIM)
TP53
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TREX1
(0.52)
ATM


Citations in the biomedical literature:


HERNS syndrome
TREX1
B-cell chronic lymphocytic leukemia
ARL11 ATM CCND1 IGHG1 IGHV3-21 POT1
TP53



HERNS syndrome
B-cell chronic lymphocytic leukemia

Synonym(s):
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Synonym(s):
- B-CLL
- B-cell chronic lymphoid leukemia
- Lymphoplasmacytic leukemia
- Lymphoplasmacytoid immunocytoma
- Small lymphocytic lymphoma
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Neoplasms -
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
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: D015451
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


B-cell chronic lymphocytic leukemia

(no data available)