ORPHA:470
Lysinuric protein intolerance
Synonyms: Hyperdibasic aminoaciduria · LPI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lysinuric protein intolerance | Hyperdibasic aminoaciduria · LPI |
| fr | Intolérance aux protéines dibasiques avec lysinurie | Aminoacidurie hyperdibasique · ILPD · LPI |
| de | Lysinurische Proteinintoleranz | Aminoazidurie, hyperdibasische, Typ 2 · LPI |
| es | Lisinuria con intolerancia a proteínas | Aminoaciduria hiperdibásica tipo 2 |
| it | Intolleranza alle proteine con lisinuria | Aminoaciduria bibasica, tipo 2 · IPL |
| nl | Lysinurische proteïne-intolerantie | Hyperdibasische aminoacidurie · LPI · Lysine-eiwitintolerantie · Lysinurische eiwitintolerantie |
| pt | Intolerância à proteína lisinúrica | Aminoacidúria hiperdibásica · LPI |
| pl | Lizynuryczna nietolerancja białka | Aminoacyduria dwuzasadowa typu 2 · LPI |
| cs | Intolerance bílkovin s lysinurií | Hyperdibazická aminoacidurie, typ 2 · LPI |
| uk | Непереносимість лізинуричного білка | Гіпердігідроаміноацидурія · LPI |
| zh | 赖氨酸尿性蛋白耐受不良 | 高双碱基氨基酸尿症 |
| tr | Lizinürik protein intoleransı | LPI · Hiperdibazik aminoasidüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222700 | E | validated | |
| ICD-10 | E72.0 | NTBT | attributed | validated |
| ICD-11 | 5C60.Y | NTBT | index | validated |
| MONDO | 0009109 | E | validated | |
| MeSH | C562687 | E | validated | |
| UMLS | C0268647 | E | validated | |
| GARD | 3335 | E | validated | |
| MedDRA | 10058300 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:664482Primary hemophagocytic lymphohistiocytosis without hypopigmentation
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1032OBSOLETE: Hyperdibasic aminoaciduria type 1 referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC7A7 | Disease-causing germline mutation(s) in | Assessed | HGNC:11065 | ENSG00000155465 | 603593 | 14q11.2 | solute carrier family 7 member 7 | 20301535[PMID] |
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Italy | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Finland | Value and class | Validated | 15050971[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.75 / 100 000 | Japan | Value and class | Validated | 10980538[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
77 annotations · validated 2024-03-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001508 | Failure to thrive | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0006530 | Abnormal pulmonary interstitial morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0012278 | Abnormality of serine metabolism | |
| HP:0001903 | Anemia | |
| HP:0003268 | Argininuria | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001394 | Cirrhosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0003233 | Decreased HDL cholesterol concentration | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002014 | Diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0011966 | Elevated plasma citrulline | |
| HP:0011968 | Feeding difficulties | |
| HP:0008947 | Floppy infant | |
| HP:0000099 | Glomerulonephritis | |
| HP:0001510 | Growth delay | |
| HP:0000790 | Hematuria | |
| HP:0012156 | Hemophagocytosis | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003348 | Hyperalaninemia | |
| HP:0001987 | Hyperammonemia | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003217 | Hyperglutaminemia | |
| HP:0002154 | Hyperglycinemia | |
| HP:0003297 | Hyperlysinuria | |
| HP:0008358 | Hyperprolinemia | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0003141 | Increased LDL cholesterol concentration | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0001249 | Intellectual disability | |
| HP:0006517 | Intraalveolar phospholipid accumulation | |
| HP:0001882 | Leukopenia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0012523 | Oral aversion | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000093 | Proteinuria | |
| HP:0000124 | Renal tubular dysfunction | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002570 | Steatorrhea | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0010701 | Abnormal immunoglobulin level | |
| HP:0005368 | Abnormality of humoral immunity | |
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0001259 | Coma | |
| HP:0012280 | Hepatic amyloidosis | |
| HP:0000822 | Hypertension | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0011424 | Increased serum zinc | |
| HP:0001254 | Lethargy | |
| HP:0005548 | Megakaryocytopenia | |
| HP:0012578 | Membranous nephropathy | |
| HP:0003532 | Ornithinuria | |
| HP:0003218 | Oroticaciduria | |
| HP:0001733 | Pancreatitis | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0001917 | Renal amyloidosis | |
| HP:0030760 | Renal fibrosis | |
| HP:0001947 | Renal tubular acidosis | |
| HP:0001970 | Tubulointerstitial nephritis | |
| Very rare (<4-1%) | ||
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0004431 | Complement deficiency | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0002756 | Pathologic fracture | |
| HP:0002718 | Recurrent bacterial infections | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20301535[PMID]_20301535[PMID]_28057010[PMID]_8163273[PMID]_7204568[PMID]_6076999[PMID]_4158034[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/470
- This record as JSON: /data/d/470.json