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6 OMIM references -
6 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
40 signs/symptoms
Neuroblastoma
Bloom syndrome

ALK BLM
HACE1
LIN28B
MYCN
PHOX2B
TOP2A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TOP2A
(0.7)
BLM



Citations in the biomedical literature:


Neuroblastoma
ALK HACE1 LIN28B MYCN PHOX2B TOP2A

Bloom syndrome
BLM



Neuroblastoma
Bloom syndrome

Synonym(s):
- Neural crest tumor
- Sympathoblastoma

Synonym(s):
- BSyn

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic disease
- Rare skin 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:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
2 MeSH references: C536408 / D009447
External references:
1 OMIM reference -
1 MeSH reference: D001816

Neuroblastoma
Bloom syndrome

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

Frequent
- Autosomal dominant inheritance



Very frequent
- Acute diarrhea
- Anomalies of nose and olfaction
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal recessive inheritance
- Chromosome breakage
- Delayed bone age
- Dolichocephaly / scaphocephaly
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Flat cheek bones / malar hypoplasia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Irregular / in bands / reticular skin hyperpigmentation
- Narrow face
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Neoplasms / tumors
- Repeat respiratory infections
- Short stature / dwarfism / nanism

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Face / facial anomalies
- Hypoplastic mandibula / partial absence of the mandibula
- Short / small nose
- Skin photosensitivity
- Telangiectasiae of the skin

Occasional
- Acute leukemia
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Anodontia / oligodontia / hypodontia
- Digestive neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hyperhidrosis / increased sweating
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / patchy skin hypopigmentation
- Lymphoma
- Microcephaly
- Prominent / bat ears
- Sacral sinus / dimple
- Skin tumors / lumps / epidermal cysts
- Sterility / hypofertility
- Syndactyly of fingers / interdigital palm
- Upper limb polydactyly / hexadactyly