raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:565782

Methotrexate toxicity

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

A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMethotrexate toxicity
frToxicité au méthotrexate
deMethotrexat-Toxizität
esToxicidad por metotrexato
itTossicità da metotressato
nlMethotrexaat-toxiciteit
ptToxicidade a metotrexato
plToksyczność Metotreksatu
csToxicita metotrexátu
ukТоксичність метотрексату
zh甲氨蝶呤毒性
trMetotreksat toksisitesi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Y14NTBTattributedvalidated
ICD-11NE60NTBTattributedvalidated
MONDO0034212Evalidated
UMLSC0568062Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 100 0003 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2015[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.

6

HPO phenotypes

22 annotations · validated 2024-10-03
HPOTerm (as annotated by Orphanet)Diagnostic
Frequent (79-30%)
HP:0002027Abdominal pain
HP:0001410Decreased liver function
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002013Vomiting
Occasional (29-5%)
HP:0001596Alopecia
HP:0001394Cirrhosis
HP:0001289Confusion
HP:0002329Drowsiness
HP:0012378Fatigue
HP:0001945Fever
HP:0002239Gastrointestinal hemorrhage
HP:0002315Headache
HP:0006515Interstitial pneumonitis
HP:0001882Leukopenia
HP:0001889Megaloblastic anemia
HP:0002018Nausea
HP:0000155Oral ulcer
HP:0001733Pancreatitis
HP:0000083Renal insufficiency
HP:0001250Seizure
HP:0002321Vertigo
Very rare (<4-1%)
HP:0000509Conjunctivitis

Annotation source: 32310574[PMID]_27496039[PMID]_36312688[PMID]

7

Sources for this card