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Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Seckel syndrome
6 OMIM references -
6 associated genes
24 signs/symptoms
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Seckel syndrome

BRCA2
(UniProt - OMIM)
 ATR
(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)
BRCA2
(0.63)
ATR


Citations in the biomedical literature:


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BRCA2
Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8



Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Seckel syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: C537533
Seckel syndrome

Very frequent
- Abnormal / absent ossification
- Autosomal recessive inheritance
- Beaked nose
- Clinodactyly of fifth finger
- Craniostenosis / craniosynostosis / sutural synostosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow face
- Premature ageing
- Short stature / dwarfism / nanism
- 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
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Scoliosis


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

(no data available)