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Seckel syndrome
6 OMIM references -
6 associated genes
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6
Werner syndrome
1 OMIM reference -
1 associated gene
56 signs/symptoms
Seckel syndrome
Werner syndrome

ATR
(UniProt - OMIM)
 WRN
(UniProt - OMIM)
ATRIP
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
PCNT
(UniProt - OMIM)
RBBP8
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ATR
(0.83)
WRN


Citations in the biomedical literature:


Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8

Werner syndrome
WRN



Seckel syndrome
Werner syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Adult progeria
- WS
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
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:
6 OMIM references -
1 MeSH reference: C537533
External references:
1 OMIM reference -
1 MeSH reference: D014898
COMMON
SIGNS 		- Autosomal recessive inheritance
- Beaked nose
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Narrow face
- Premature ageing
- Short stature / dwarfism / nanism

Seckel syndrome
Werner syndrome

Very frequent
- Abnormal / absent ossification
- Clinodactyly of fifth finger
- Craniostenosis / craniosynostosis / sutural synostosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Small / hypoplastic / adherent / absent ear lobe
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- Wide space between 1st-2nd toes

Frequent
- Anodontia / oligodontia / hypodontia
- Cone epiphyses / epiphysis
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Enamel anomaly
- Glaucoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity

Occasional
- Scoliosis


Very frequent
- Abnormal fall of hair
- Anomalies of chest / thorax / trunk
- Arterial atheroma / precocious atherosclerosis / arteriosclerosis
- Cataract / lens opacification
- Global upper and lower limbs anomalies
- Lipoatrophy
- Pili torti
- 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
- 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