raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:548

Leprosy

Type
Disease
Group
Disorder
Inheritance
Multigenic/multifactorial
Age of onset
All ages
Status
active

A chronic infectious disease affecting primarily the skin and peripheral nervous system.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enLeprosy
frLèpre
deLepra
esLepra
itLebbra
nlLepra
ptLepra
plTrąd
csLepra
ukПроказа
zh麻风
trCüzzam (Lepra)

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM246300BTNTvalidated
OMIM607572BTNTvalidated
OMIM609888Evalidated
OMIM610988BTNTvalidated
OMIM613223BTNTvalidated
OMIM613407BTNTvalidated
ICD-10A30.0BTNTspecificvalidated
ICD-10A30.1BTNTspecificvalidated
ICD-10A30.2BTNTspecificvalidated
ICD-10A30.3BTNTspecificvalidated
ICD-10A30.4BTNTspecificvalidated
ICD-10A30.5BTNTspecificvalidated
ICD-10A30.8BTNTspecificvalidated
ICD-10A30.9BTNTspecificvalidated
ICD-111B20Especificvalidated
ICD-111B20.0BTNTspecificvalidated
ICD-111B20.1BTNTspecificvalidated
ICD-111B20.2BTNTspecificvalidated
ICD-111B20.3BTNTspecificvalidated
MONDO0005124Evalidated
MeSHD007918Evalidated
UMLSC0023343Evalidated
GARD6886Evalidated
MedDRA10024229Evalidated

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 (3):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET
Annual incidence1-9 / 100 0003.7 / 100 000WorldwideValue and classValidated[EXPERT]

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

47 annotations · validated 2020-04-03
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0009830Peripheral neuropathy
Frequent (79-30%)
HP:0012332Abnormal autonomic nervous system physiology
HP:0006121Acral ulceration
HP:0003489Acute episodes of neuropathic symptoms
HP:0034102Anti-sphingolipid antibody positivity
HP:0010835Dissociated sensory loss
HP:0012645Enlarged peripheral nerve
HP:0012181Entrapment neuropathy
HP:0000962Hyperkeratosis
HP:0000966Hypohidrosis
HP:0020073Hypopigmented macule
HP:0010829Impaired temperature sensition
HP:0003401Paresthesia
HP:0003202Skeletal muscle atrophy
HP:0200036Skin nodule
HP:0002231Sparse body hair
Occasional (29-5%)
HP:0011821Abnormality of facial skeleton
HP:0010827Abnormality of the seventh cranial nerve
HP:0002087Abnormality of the upper respiratory tract
HP:0002223Absent eyebrow
HP:0001596Alopecia
HP:0007460Autoamputation of digits
HP:0012185Constrictive median neuropathy
HP:0012804Corneal ulceration
HP:0012155Decreased corneal sensation
HP:0012534Dysesthesia
HP:0000421Epistaxis
HP:0011334Facial shape deformation
HP:0009027Foot dorsiflexor weakness
HP:0011457Loss of eyelashes
HP:0001324Muscle weakness
HP:0030003Paralytic lagophthalmos
HP:0001026Penetrating foot ulcers
HP:0003376Steppage gait
HP:0030351Urticarial plaque
HP:0012500Verrucous papule
Very rare (<4-1%)
HP:0005561Abnormality of bone marrow cell morphology
HP:0000834Abnormality of the adrenal glands
HP:0001392Abnormality of the liver
HP:0001743Abnormality of the spleen
HP:0000618Blindness
HP:0100583Corneal perforation
HP:0000501Glaucoma
HP:0000771Gynecomastia
HP:0001101Iritis
HP:0032404Testicular mass
HP:0000554Uveitis

Run the differential on the 1 obligate / very frequent terms

Annotation source: 25432808[PMID]_28763601[PMID]

7

Sources for this card