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HERNS syndrome
1 OMIM reference -
1 associated gene
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Muir-Torre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
HERNS syndrome
Muir-Torre syndrome

TREX1
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TREX1
(0.62)
MSH2


Citations in the biomedical literature:


HERNS syndrome
TREX1
Muir-Torre syndrome
MLH1 MSH2 MSH6



HERNS syndrome
Muir-Torre syndrome

Synonym(s):
- Hereditary endotheliopathy - retinopathy - nephropathy - stroke
Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D055653
COMMON
SIGNS 		- Autosomal dominant inheritance

HERNS syndrome
Muir-Torre syndrome

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
- Adenoma sebaceum
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer