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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
56 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Werner syndrome

CREBBP WRN


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.63)
WRN



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Werner syndrome
WRN



Rubinstein-Taybi syndrome due to CREBBP mutations
Werner syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Adult progeria
- WS

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D014898

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


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)