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Condition report · Cancer

Hereditary Neuroblastoma

Inherited variants in ALK or PHOX2B that raise the risk of neuroblastoma, a childhood cancer of developing nerve tissue.

A condition report looks for rare variants known to cause the conditions it covers.

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The 2 conditions we analyse

Neuroblastoma susceptibility 3 (ALK)

Autosomal dominant

Germline ALK variants predisposing to neuroblastoma in infancy and childhood.

What a diagnosis changes

Abdominal ultrasound and urine catecholamine testing in early childhood.

Genes analysed

Also known as

ALK neuroblastoma; NBLST3; neuroblastoma caused by mutation in ALK; neuroblastoma, susceptibility to, type 3

MONDO:0013083OMIM 613014MedGen 414083

Neuroblastoma susceptibility 2 (PHOX2B)

Autosomal dominant

Germline PHOX2B variants predisposing to neuroblastoma and related neural-crest tumours.

What a diagnosis changes

Abdominal ultrasound and urine catecholamine testing in early childhood.

Genes analysed

Also known as

NBLST2; neuroblastoma, susceptibility to, type 2; susceptibility to neuroblastoma 2

MONDO:0700041OMIM 613013MedGen 416607

Other cancer conditions

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