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Werner syndrome
1 OMIM reference -
1 associated gene
56 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
Bloom syndrome
1 OMIM reference -
1 associated gene
40 signs/symptoms
Werner syndrome
Bloom syndrome

WRN
(UniProt - OMIM)
 BLM
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
WRN
(0.79)
BLM


Citations in the biomedical literature:


Werner syndrome
WRN
Bloom syndrome
BLM



Werner syndrome
Bloom syndrome

Synonym(s):
- Adult progeria
- WS
Synonym(s):
- BSyn
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D014898
External references:
1 OMIM reference -
1 MeSH reference: D001816
COMMON
SIGNS 		- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal recessive inheritance
- Digestive neoplasm / tumor / carcinoma / cancer
- Narrow face
- Neoplasms / tumors
- Short stature / dwarfism / nanism
- Sterility / hypofertility
- Telangiectasiae of the skin

Werner syndrome
Bloom syndrome

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

Frequent
- 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
- 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
- Testis anomalies
- Tight skin / lack of elasticity

Occasional
- Autosomal dominant inheritance
- Breast neoplasm / tumor / carcinoma / cancer
- Cerebral vascular anomalies
- Chronic arterial hypertension
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngomalacia
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Meningioma
- 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


Very frequent
- Acute diarrhea
- Anomalies of nose and olfaction
- Anomalies of skin, subcutaneous tissue and mucosae
- Chromosome breakage
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Flat cheek bones / malar hypoplasia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Irregular / in bands / reticular skin hyperpigmentation
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Repeat respiratory infections

Frequent
- Face / facial anomalies
- Hypoplastic mandibula / partial absence of the mandibula
- Short / small nose
- Skin photosensitivity

Occasional
- Acute leukemia
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anodontia / oligodontia / hypodontia
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Lymphoma
- Microcephaly
- Prominent / bat ears
- Sacral sinus / dimple
- Skin tumors / lumps / epidermal cysts
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly