Cystathioninuria
Synonyms: Cystathionase deficiency · Cystathionine gamma-lyase deficiency syndrome · Gamma-cystathionase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystathioninuria | Cystathionase deficiency · Cystathionine gamma-lyase deficiency syndrome · Gamma-cystathionase deficiency |
| fr | Cystathioninurie | Déficit en cystathionase · Déficit en cystathionine gamma-lyase · Déficit en gamma-cystathionase |
| de | Cystathioninurie | Cystathionase-Mangel · Cystathionin-gamma-Lyase-Mangel · Gamma-Cystathionase-Mangel |
| es | Cistationinuria | Deficiencia de cistationasa · Deficiencia de cistationina gamma-liasa · Deficiencia de gamma-cistationasa |
| it | Cistationinuria | Deficit di cistationasi · Deficit di cistationina gamma-liasi · Deficit di gamma-cistationasi |
| nl | Cystathioninurie | Deficiëntie van cystathionase · Deficiëntie van gamma-cystathionase · Syndroom van deficiëntie van cystathionine gamma-lyase |
| pt | Cistationinúria | Deficiência de cistationase · Deficiência de gama-cistationase · Síndrome de deficiência de cistationina gama-liase |
| pl | Cystationinuria | Niedobóe gamma-cystationazy · Niedobór cystationazy · Niedobór liazy gamma - cystationu |
| cs | Cystathioninurie | Deficit cystathionázy · Syndrom deficitu cystathionin gamma-lyázy · Deficit gama-cystathionázy |
| uk | Цистатіонінурія | Дефіцит цистатіонази · Синдром дефіциту цистатіонін-гамма-ліази · Дефіцит гамма-цистатіонази |
| zh | 半胱胺甲硫胺酸尿症 | 胱硫醚γ-裂合酶缺乏综合征 |
| tr | Sistationinüri | Sistatiyonaz eksikliği · Gama-sistatiyonaz eksikliği · Sistatiyonin gama-liyaz eksikliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219500 | E | validated | |
| ICD-10 | E72.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009058 | E | validated | |
| MeSH | C535408 | E | validated | |
| UMLS | C0220993 | E | validated | |
| GARD | 2428 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2501 | ENSG00000116761 | 607657 | 1p31.1 | cystathionine gamma-lyase | 20584029[PMID]_19428278[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 7.1 / 100 000 | Canada | Value and class | Validated | 519848[PMID] |
| Point prevalence | 1-9 / 100 000 | 7.1 / 100 000 | Canada | Value and class | Validated | 519848[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | 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.
HPO phenotypes
8 annotations · validated 2019-05-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003153 | Cystathioninuria | |
| Frequent (79-30%) | ||
| HP:0003286 | Cystathioninemia | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000787 | Nephrolithiasis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001337 | Tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 20584029[PMID]_5637757[PMID]_6082903[PMID]_14399948[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/212
- This record as JSON: /data/d/212.json