raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2552

Microsporidiosis

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

A rare parasitic disease characterized by chronic diarrhea leading to severe weight loss caused by microsporidia contamination (most commonly by Encephalitozoon or Enterocytozoon). Contamination can occur through ingesting spores present in water or food or via direct human-to-human contact. Immunodeficient patients (such as individuals with HIV, and patients who have undergone a bone marrow or organ transplant) may be severely affected. These protozoan parasites mainly develop in intestinal cells, but can also be found in adipocytes, epithelial cells and blood cells.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMicrosporidiosis
frMicrosporidiose
deMikrosporidiose
esMicrosporidiosis
itMicrosporidiosi
nlMicrosporidiose
ptMicrosporidiose
plMikrosporydioza
csMikrosporidóza
ukМікроспоридіоз
zh微孢子虫病
trMikrosporidioz

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10B60.8NTBTinclusionvalidated
ICD-111F58Especificvalidated
MONDO0005846Evalidated
MeSHD016881Evalidated
UMLSC0085407Evalidated
GARD3655Evalidated
MedDRA10053982Evalidated

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.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET

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

51 annotations · validated 2019-10-25
HPOTerm (as annotated by Orphanet)Diagnostic
Frequent (79-30%)
HP:0002027Abdominal pain
HP:0002028Chronic diarrhea
HP:0032218Decreased proportion of CD4-positive T cells
HP:0002721Immunodeficiency
HP:0002254Intermittent diarrhea
HP:0001824Weight loss
Occasional (29-5%)
HP:0011277Abnormality of the urinary system physiology
HP:0002039Anorexia
HP:0012387Bronchitis
HP:0001945Fever
HP:0002018Nausea
HP:0012384Rhinitis
HP:0000246Sinusitis
HP:0002013Vomiting
Very rare (<4-1%)
HP:0002778Abnormal trachea morphology
HP:0008777Abnormal vocal cord morphology
HP:0005561Abnormality of bone marrow cell morphology
HP:0030126Abnormality of the endometrium
HP:0011027Abnormality of the fallopian tube
HP:0000828Abnormality of the parathyroid gland
HP:0001743Abnormality of the spleen
HP:0000849Adrenocortical abnormality
HP:0001080Biliary tract abnormality
HP:0030049Brain abscess
HP:0011950Bronchiolitis
HP:0004326Cachexia
HP:0030151Cholangitis
HP:0012804Corneal ulceration
HP:0001944Dehydration
HP:0100584Endocarditis
HP:0000206Glossitis
HP:0012115Hepatitis
HP:0002383Infectious encephalitis
HP:0000491Keratitis
HP:0001096Keratoconjunctivitis
HP:0002840Lymphadenitis
HP:0012819Myocarditis
HP:0100614Myositis
HP:0000123Nephritis
HP:0002754Osteomyelitis
HP:0001733Pancreatitis
HP:0002586Peritonitis
HP:0025439Pharyngitis
HP:0002090Pneumonia
HP:0000024Prostatitis
HP:0001250Seizure
HP:0100806Sepsis
HP:0200036Skin nodule
HP:0100646Thyroiditis
HP:0500006Urethritis
HP:0000572Visual loss

Annotation source: 20702053[PMID]_24829239[PMID]_26004651[PMID]

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Sources for this card