ORPHA:251937

Gangliocytoma

Type: Disease
Group: Disorder
Age of onset: Adolescent, Childhood, Infancy
Status: active

A rare, mixed neuronal-glial tumor characterized by slow growth and irregular arrangement of neoplastic ganglion cells (large, multipolar dysplastic neurons) within stroma composed of non-neoplastic glial elements. Most commonly it occurs in temporal lobe, but it can be located throughout central nervous system. Clinical manifestations vary depending on the location and include seizures, increased intracranial pressure, cerebellar signs and focal neurologic deficits. Memory disturbances, cranial nerve palsies and psychiatric symptoms have also been reported.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Gangliocytoma
fr	Gangliocytome
de	Gangliozytom
es	Gangliocitoma
it	Gangliocitoma
nl	Gangliocytoom
pt	Gangliocitoma
pl	Zwojak
cs	Gangliocytom
uk	Гангліоцитома
zh	神经节细胞瘤
tr	Gangliositom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D36.1	NTBT	index	validated
ICD-11	2A00.21	NTBT	index	validated
ICD-11	XH6KA6	E	specific	validated
MONDO	0016730	E		validated
UMLS	C5779630	E		validated
GARD	10638	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (1):

ORPHA:251934Mixed neuronal-glial tumor
rare neurological diseases; rare neoplastic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	<1 / 1 000 000	—	Worldwide	Class only	Validated	18798534[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

26 annotations · validated 2016-06-29

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003005	Ganglioneuroma
Frequent (79-30%)
HP:0002315	Headache
HP:0012377	Hemianopia
HP:0100006	Neoplasm of the central nervous system
HP:0010302	Spinal cord tumor
Occasional (29-5%)
HP:0002363	Abnormal brainstem morphology
HP:0040086	Abnormal prolactin level
HP:0012503	Abnormality of the pituitary gland
HP:0005616	Accelerated skeletal maturation
HP:0011749	Adrenocorticotropic hormone excess
HP:0000141	Amenorrhea
HP:0030018	Decreased female libido
HP:0002460	Distal muscle weakness
HP:0000845	Elevated circulating growth hormone concentration
HP:0007359	Focal-onset seizure
HP:0000975	Hyperhidrosis
HP:0000802	Impotence
HP:0003401	Paresthesia
HP:0011761	Pituitary null cell adenoma
HP:0002650	Scoliosis
Very rare (<4-1%)
HP:0001317	Abnormal cerebellum morphology
HP:0000726	Dementia
HP:0001262	Excessive daytime somnolence
HP:0006767	Pituitary prolactin cell adenoma
HP:0002591	Polyphagia
HP:0003396	Syringomyelia

Run the differential on the 1 obligate / very frequent terms

Annotation source: 25259876[PMID]_2369716[PMID]_24430434[PMID]_6423659[PMID]_3022544[PMID]_12060349[PMID]_2512034[PMID]_10470826[PMID]_6707754[PMID]_2927689[PMID]_19789938[PMID]_18651251[PMID]_12622135[PMID]_9055303[PMID]_8264895[PMID]_6631503[PMID]_6955631[PMID]_7252559[PMID]_26314658[PMID]_7584515[PMID]_6955631[PMID]_18297623[PMID]_17460525[PMID]_15690130[PMID]_15739067[PMID]_11373931[PMID]_1767634[PMID]_8246055[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/251937
This record as JSON: /data/d/251937.json