ORPHA:54595

Craniopharyngioma

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Craniopharyngioma
fr	Craniopharyngiome
de	Kraniopharyngeom
es	Craneofaringioma
it	Craniofaringioma
nl	Craniofaryngioom
pt	Craniofaringioma
pl	Czaszkogardlak
cs	Kraniofaryngeom
uk	Краніофарингіома
zh	颅咽管瘤
tr	Kraniyofarenjiyom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D44.4	E	specific	validated
ICD-11	2F9A	NTBT	attributed	validated
MONDO	0018907	E		validated
MeSH	D003397	E		validated
UMLS	C0010276	E		validated
GARD	10486	E		validated
MedDRA	10011318	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:97978Rare endocrine disease

Parents in the classifications (4):

ORPHA:156643Genetic endocrine growth disease
rare genetic diseases
ORPHA:95503Pituitary hormone deficiency of tumoral origin
rare endocrine diseases
ORPHA:90692Rare endocrine growth disease
rare endocrine diseases
ORPHA:98062Rare nervous system tumor
rare neurological diseases; rare neoplastic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BRAF	Disease-causing somatic mutation(s) in	Assessed	HGNC:1097	ENSG00000157764	164757	7q34	B-Raf proto-oncogene, serine/threonine kinase	24413733[PMID]
CTNNB1	Disease-causing somatic mutation(s) in	Assessed	HGNC:2514	ENSG00000168036	116806	3p22.1	catenin beta 1	24413733[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	1 / 100 000	Worldwide	Value and class	Not yet validated	17825241[PMID]_22969141[PMID]
Point prevalence	1-9 / 100 000	2 / 100 000	Europe	Value and class	Validated	17425791[PMID]_European Medicines Agency 2015[OTHER]
Annual incidence	1-9 / 1 000 000	0.19 / 100 000	United States	Value and class	Validated	Central Brain Tumor OTHERistry of the United States 2010-2014[OTHER]_29117289[PMID]
Annual incidence	1-9 / 1 000 000	0.17 / 100 000	Sweden	Value and class	Validated	25375987[PMID]_Swedish national Health OTHERistries 1987-2011[OTHER]

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

46 annotations · validated 2017-03-22

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0012286	Abnormal hypothalamus morphology
Very frequent (99-80%)
HP:0002514	Cerebral calcification
HP:0012505	Enlarged pituitary gland
HP:0040075	Hypopituitarism
HP:0010576	Intracranial cystic lesion
HP:0011750	Neoplasm of the anterior pituitary
Frequent (79-30%)
HP:0030588	Abnormal visual field test
HP:0030521	Bitemporal hemianopia
HP:0011734	Central adrenal insufficiency
HP:0000863	Central diabetes insipidus
HP:0001262	Excessive daytime somnolence
HP:0002315	Headache
HP:0000135	Hypogonadism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000870	Increased circulating prolactin concentration
HP:0002017	Nausea and vomiting
HP:0001513	Obesity
HP:0001085	Papilledema
HP:0008245	Pituitary hypothyroidism
HP:0007987	Progressive visual field defects
HP:0002360	Sleep abnormality
HP:0007924	Slow decrease in visual acuity
Occasional (29-5%)
HP:0002637	Cerebral ischemia
HP:0000823	Delayed puberty
HP:0001510	Growth delay
HP:0000365	Hearing impairment
HP:0000238	Hydrocephalus
HP:0002516	Increased intracranial pressure
HP:0002659	Increased susceptibility to fractures
HP:0000648	Optic atrophy
HP:0002591	Polyphagia
HP:0003508	Proportionate short stature
HP:0010535	Sleep apnea
HP:0005978	Type II diabetes mellitus
Very rare (<4-1%)
HP:0010939	Abnormal nasal bone morphology
HP:0430000	Abnormality of the frontal bone
HP:0000708	Atypical behavior
HP:0001259	Coma
HP:0001263	Global developmental delay
HP:0001249	Intellectual disability
HP:0001658	Myocardial infarction
HP:0008897	Postnatal growth retardation
HP:0002719	Recurrent infections
HP:0001250	Seizure
HP:0001117	Sudden loss of visual acuity
HP:0002321	Vertigo

Run the differential on the 6 obligate / very frequent terms

Annotation source: 16543382[PMID]_28073908[PMID]_27258775[PMID]_26498373[PMID]_26563980[PMID]_25884258[PMID]_25375987[PMID]_25370812[PMID]_25434950[PMID]_25077898[PMID]_24571758[PMID]_24507865[PMID]_24413733[PMID]_23771923[PMID]_23633208[PMID]_23533238[PMID]_22969141[PMID]_22794322[PMID]_22319039[PMID]_21508127[PMID]_21255479[PMID]_20332250[PMID]_19569961[PMID]_18252012[PMID]_18154027[PMID]_17941498[PMID]_17639891[PMID]_17469176[PMID]_15845929[PMID]_15269087[PMID]_16206977[PMID]_12659393[PMID]_12495299[PMID]_12466115[PMID]_12134929[PMID]_12134898[PMID]_12050243[PMID]_10599681[PMID]_8869189[PMID]_7568823[PMID]_7616262[PMID]_7773950[PMID]_7852493[PMID]_8090885[PMID]_2392228[PMID]_2200325[PMID]_2894566[PMID]_2823728[PMID]_3300946[PMID]_6854390[PMID]_6293388[PMID]_7277671[PMID]_221807[PMID]_581156[PMID]_953588[PMID]_776317[PMID]_1242169[PMID]_1078580[PMID]_4414783[PMID]_4213157[PMID]_4542350[PMID]_5013542[PMID]_4103497[PMID]_5553578[PMID]_4308176[PMID]_5676653[PMID]_5296899[PMID]_5949228[PMID]_5842310[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/54595
This record as JSON: /data/d/54595.json