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1 OMIM reference -
1 associated gene
56 signs/symptoms
PROTEIN INTERACTIONS: 1
16 OMIM references -
26 associated genes
No signs/symptoms info
Werner syndrome
Amyotrophic lateral sclerosis

WRN ANG
ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WRN
(0.81)
VCP



Citations in the biomedical literature:


Werner syndrome
WRN
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Werner syndrome
Amyotrophic lateral sclerosis

Synonym(s):
- Adult progeria
- WS

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D014898
External references:
16 OMIM references -
1 MeSH reference: D000690

Werner syndrome

Very frequent
- Abnormal fall of hair
- Anomalies of chest / thorax / trunk
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Autosomal recessive inheritance
- Beaked nose
- Cataract / lens opacification
- Global upper and lower limbs anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lipoatrophy
- Pili torti
- Premature ageing
- Short stature / dwarfism / nanism
- White forelock / piebaldism

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal fat distribution / lipodystrophy
- Angor pectoris / myocardial infarction
- Arterial pulse abolition
- Chronic skin infection / ulcerations / ulcers / cancrum
- Diabetes mellitus
- Heart / cardiac failure
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Late puberty / hypogonadism / hypogenitalism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Narrow face
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Osteosclerosis / osteopetrosis / bone condensation
- Periarticular tissue anomaly / extraarticular calcifications
- Pes talus
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Retinitis pigmentosa / retinal pigmentary changes
- Skin hypoplasia / aplasia / atrophy
- Small hand / acromicria
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- Telangiectasiae of the skin
- Testis anomalies
- Tight skin / lack of elasticity

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Cerebral vascular anomalies
- Chronic arterial hypertension
- Digestive neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngomalacia
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Meningioma
- Neoplasms / tumors
- Oral cavity / tongue neoplasm / tumor / carcinoma / cancer
- Oropharyngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Precocious menopause / secondary amenorrhea
- Restricted joint mobility / joint stiffness / ankylosis
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Small bowel neoplasm / tumor / carcinoma / cancer
- Thyroid neoplasm / tumor / carcinoma / cancer


Amyotrophic lateral sclerosis

(no data available)