Cytoscape Web
Click node...


2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
31 signs/symptoms
Cleidocranial dysplasia
Monosomy 13q14

RUNX2 RB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.72)
RB1



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
Monosomy 13q14
RB1



Cleidocranial dysplasia
Monosomy 13q14

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- Del(13)(q14)
- Deletion 13q14 syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Hypertelorism
- Short hand / brachydactyly
- Short stature / dwarfism / nanism


Cleidocranial dysplasia
Monosomy 13q14

Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Repeat respiratory infections
- Supernumerary teeth / polyodontia
- Wormian bones

Frequent
- Anomalies of ear and hearing
- Anomalies of the ribs
- Chronic / relapsing otitis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dental malocclusion
- Hearing loss / hypoacusia / deafness
- Narrow rib cage / thorax
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Sacro-coccyx / sacrum anomaly
- Sloping forehead
- Small face

Occasional
- Apnea / sleep apnea
- Brachycephaly / flat occiput
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Genu valgum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Total / partial trisomy / duplication

Frequent
- Abnormal dermatoglyphics
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Clinodactyly of fifth finger
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypotonia
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Ptosis
- Retinoblastoma
- Short neck
- Syndactyly of fingers / interdigital palm
- Trigonocephaly

Occasional
- Anus / rectum anomalies
- Corpus callosum / septum pellucidum total / partial agenesis
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Thumb hypoplasia / aplasia / absence
- Webbed neck / pterygium colli