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HERNS syndrome
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
Mantle cell lymphoma
3 associated genes
7 signs/symptoms
HERNS syndrome
Mantle cell lymphoma

TREX1
(UniProt - OMIM)
 ATM
(UniProt - OMIM)
CCND1
(UniProt - OMIM)
IGH
(UniProt)

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


Citations in the biomedical literature:


HERNS syndrome
TREX1
Mantle cell lymphoma
ATM CCND1 IGH



HERNS syndrome
Mantle cell lymphoma

Synonym(s):
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Synonym(s):
- LCM
- MCL
- Mantle zone 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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D020522
HERNS syndrome
Mantle cell lymphoma

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


Very frequent
- Hematologic / blood / lymphatic cancer
- Lymphadenopathy / polyadenopathies

Frequent
- Anorexia
- Asthenia / fatigue / weakness
- Bone marrow / medullar infiltration
- Splenomegaly
- Weight loss / loss of appetite / break in weight curve / general health alteration