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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
6 associated genes
24 signs/symptoms
Primary biliary cirrhosis
Seckel syndrome

IL12A ATR
IL12RB1 ATRIP
IRF5 CENPJ
MMEL1 CEP152
POU2AF1 PCNT
SPIB RBBP8
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IRF5
(0.72)
CEP152



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Seckel syndrome
ATR ATRIP CENPJ CEP152 PCNT RBBP8



Primary biliary cirrhosis
Seckel syndrome

Synonym(s):
- Hanot syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare hepatic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
5 OMIM references -
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


Primary biliary cirrhosis

(no data available)