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6 OMIM references -
6 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
31 signs/symptoms
Neuroblastoma
Monosomy 13q14

ALK RB1
HACE1
LIN28B
MYCN
PHOX2B
TOP2A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TOP2A
(0.65)
RB1



Citations in the biomedical literature:


Neuroblastoma
ALK HACE1 LIN28B MYCN PHOX2B TOP2A

Monosomy 13q14
RB1



Neuroblastoma
Monosomy 13q14

Synonym(s):
- Neural crest tumor
- Sympathoblastoma

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

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

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

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: childhood
Average age of death: child / adolescent
Type of inheritance: sporadic
Epidemiological data:
(no data available)

External references:
6 OMIM references -
2 MeSH references: C536408 / D009447
External references:
1 OMIM reference -
No MeSH references

Neuroblastoma
Monosomy 13q14

Very frequent
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Organic acid metabolism anomalies

Frequent
- Autosomal dominant inheritance



Very frequent
- Broad nose / nasal bridge
- Helix thickened / sculpted
- High nasal bridge
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Microcephaly
- Short stature / dwarfism / nanism
- 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 hand / brachydactyly
- 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