ORPHA:727861
YARS1-related multisystemic disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | YARS1-related multisystemic disease | |
| fr | Maladie multisystémique associée à YARS1 | |
| de | YARS1-assoziierte Multisystemerkrankung | |
| es | Enfermedad multisistémica asociada al gen YARS1 | |
| it | Malattia multisistemica correlata a YARS1 | |
| nl | YARS1-gerelateerde multisystemische ziekte | |
| pt | YARS1-related multisystemic disease | |
| pl | YARS1-related multisystemic disease | |
| cs | YARS1-related multisystemic disease |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619418 | E | validated |
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):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| YARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12840 | ENSG00000134684 | 603623 | 1p35.1 | tyrosyl-tRNA synthetase 1 | 40608960[PMID]_34536092[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 34536092[PMID]_40608960[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34536092[PMID]_40608960[PMID]_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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/727861
- This record as JSON: /data/d/727861.json