raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:214

Cystinuria

Synonyms: Cystinuria-lysinuria syndrome

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive, Semi-dominant
Age of onset
All ages
Status
active

A rare disorder of renal tubular amino acid transport characterized by recurrent formation of kidney cystine stones.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enCystinuriaCystinuria-lysinuria syndrome
frCystinurieSyndrome de cystinurie-lysinurie
deZystinurieCystinurie-Lysinurie
esCistinuriaCistinuria-lisinuria
itCistinuria
nlCystinurieCystinurie - lysinurie-syndroom
ptCistinúriaCistinúria-lisinúria
plCystynuriaCystynuria - lizynuria
csCystinurieCystin-lysinurie
ukЦистинуріяСиндром цистинурії-лізинурії
zh胱氨酸尿症Cystinuria-lysinuria综合征
trSistinüriSistinüri-lizinüri sendromu

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM220100Evalidated
ICD-10E72.0NTBTinclusionvalidated
ICD-115C60.2Especificvalidated
MONDO0009067Evalidated
MeSHD003555Evalidated
UMLSC0010691Evalidated
GARD6237Evalidated
MedDRA10011778Evalidated

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 (4):

Children (2):

4

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
SLC3A1ORPHA:93612Cystinuria type ADisease-causing germline mutation(s) inAssessedHGNC:11025ENSG000001380791046142p21solute carrier family 3 member 121255007[PMID]
SLC7A9ORPHA:93613Cystinuria type BDisease-causing germline mutation(s) inAssessedHGNC:11067ENSG0000002148860414419q13.11solute carrier family 7 member 921255007[PMID]
5

Prevalence and incidence

9 records
TypeClassValueAreaQualificationValidationSource
Prevalence at birth1-5 / 10 00050 / 100 000United KingdomValue and classValidated19096983[PMID]
Prevalence at birth1-9 / 100 0008 / 100 000CanadaValue and classValidated19096983[PMID]
Prevalence at birth1-9 / 100 0005.5 / 100 000JapanValue and classValidated19096983[PMID]
Point prevalence1-5 / 10 00040 / 100 000Specific populationValue and classValidated[EXPERT]
Point prevalence1-5 / 10 00014 / 100 000WorldwideValue and classValidated22480232[PMID]_[EXPERT]
Prevalence at birth1-9 / 100 0001 / 100 000SwedenValue and classValidated[EXPERT]
Prevalence at birth1-5 / 10 00025 / 100 000AustraliaValue and classValidated19096983[PMID]
Prevalence at birth1-9 / 100 0005.9 / 100 000United StatesValue and classValidated19096983[PMID]
Point prevalence1-9 / 100 0005 / 100 000EuropeValue and classValidatedEuropean Medicines Agency 2018[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

15 annotations · validated 2024-02-13
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004337Abnormality of amino acid metabolism
HP:0003131Cystinuria
HP:0000790Hematuria
HP:0000787Nephrolithiasis
Frequent (79-30%)
HP:0012088Abnormal urinary odor
HP:0033067Cystine crystalluria
HP:0030157Flank pain
HP:0000822Hypertension
HP:0002149Hyperuricemia
HP:0012405Hypocitraturia
HP:0002017Nausea and vomiting
HP:0000083Renal insufficiency
Occasional (29-5%)
HP:6000916Echogenic fetal colon
HP:0002150Hypercalciuria
HP:0003149Hyperuricosuria

Run the differential on the 4 obligate / very frequent terms

Annotation source: 24246330[PMID]_33910689[PMID]_25964309[PMID]

7

Sources for this card