Progeroid features-hepatocellular carcinoma predisposition syndrome
Synonyms: Ruijs-Aalfs syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma, genomic instability, and progeroid features, such as short stature, low body weight, muscular atrophy, lipodystrophy, bilateral cataracts, and premature hair graying. Dysmorphic craniofacial features include triangular face, small, deep-set eyes, and micrognathia. Kyphoscoliosis, sloping shoulders, mild pectus excavatum, bilateral contractures of the elbows and fingers, bilateral clinodactyly, and pes planus have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progeroid features-hepatocellular carcinoma predisposition syndrome | Ruijs-Aalfs syndrome |
| fr | Syndrome d'apparence progéroïde avec prédisposition aux carcinomes hépatocellulaires | Syndrome de Ruijs-Aalfs |
| de | Progeroide Merkmale-Hepatozelluläres Karzinom-Prädispositionssyndrom | Ruijs-Aalfs-Syndrom |
| es | Síndrome de predisposición al carcinoma hepatocelular y a rasgos progeroides | Síndrome de Ruijs-Aalfs |
| it | Sindrome tratti progeroidi-predispozione al carcinoma epatocellulare | Sindrome di Ruijs-Aalfs |
| nl | Progeroïde kenmerken - vatbaarheid voor hepatocellulair carcinoom-syndroom | Syndroom van Ruijs-Aalfs |
| pt | Síndrome de características progeróides-predisposição para carcinoma hepatocelular | Síndrome Ruijs-Aalfs |
| pl | Zespół cech progeroidalnych i predyspozycji do raka wątrobowokomórkowego | Zespół Ruijsa i Aalfsa |
| cs | Syndrom zahrnující progeroidní rysy a predispozici k hepatocelulárnímu karcinomu | Ruijsové-Aalfsové syndrom · Ruijs-Aalfsové syndrom |
| uk | Синдром прогероїдних ознак-схильності до гепатоцелюлярної карциноми | Синдром Руїса-Альфса |
| zh | 早衰特征-肝细胞癌易感综合征 | Ruijs-Aalfs综合征 |
| tr | Progeroid özellikler-hepatoselüler karsinom yatkınlık sendromu | Ruijs-Aalfs sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616200 | E | validated | |
| ICD-10 | C22.0 | NTBT | attributed | validated |
| MONDO | 0014527 | E | validated | |
| UMLS | C4015461 | 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 (3):
- ORPHA:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPRTN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25356 | ENSG00000010072 | 616086 | 1q42.2 | SprT-like N-terminal domain | 25261934[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 25261934[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25261934[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435953
- This record as JSON: /data/d/435953.json