Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Synonyms: Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome | Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome |
| fr | Syndrome de rétinopathie ischémique-hyalinose digestive-calcifications cérébrales diffuses | Syndrome de Rambaud-Gallian · Syndrome de Rambaud-Gallian-Touchard |
| de | Retinales Ischämiesyndrom mit Hyalinose kleiner Gefäße des Verdauungstraktes und diffuser Hirn-Verkalkung | Rambaud-Galian-Syndrom · Rambaud-Gallian-Touchard-Syndrom |
| es | Síndrome de isquemia retiniana-hialinosis de los vasos pequeños del tracto digestivo-calcificaciones cerebrales difusas | Síndrome de Rambaud-Gallian · Síndrome de Rambaud-Gallian-Touchard |
| it | Sindrome da ischemia retinica-ialinosi dei piccoli vasi dell'apparato digerente-calcificazioni cerebrali diffuse | Sindrome di Rambaud-Gallian · Sindrome di Rambaud-Gallian-Touchard |
| nl | Retinale ischemie-syndroom - hyalinose van kleine bloedvaten in spijsverteringskanaal - diffuse cerebrale calcificaties-syndroom | Syndroom van Rambaud-Galian · Syndroom van Rambaud-Galian-Touchard |
| pt | Síndrome de isquémia retiniana-hialinose dos pequenos vasos do trato digestivo-calcificações cerebrais difusas | Síndrome Rambaud-Gallian-Touchard · Síndrome Rambaud-Galian |
| pl | Retinal ischemic syndrome - hialinoza naczyń włosowatych przewodu pokarmowego - rozlane zwapnienia w mózgu | Zespół Rambauda i Galliana · Zespół Rambauda, Galliana i Toucharda |
| cs | Syndrom zahrnující retinální ischémii, hyalinózu malých cév zažívacího traktu a difuzní kalcifikaci mozku | Rambaudův-Gallianův syndrom · Rambaudův-Gallianův-Touchardův syndrom · Rambaud-Gallianův syndrom · Rambaud-Gallian-Touchardův syndrom |
| uk | Синдром ішемія сітківки-гіаліноз дрібних судин травного тракту-дифузні церебральні кальцифікати | Синдром Рамбо-Галліана · Синдром Рамбо-Галліана-Тушара |
| zh | 视网膜缺血综合征-消化道小血管透明变性-弥漫性脑钙化综合征 | Rambaud-Gallian-Touchard综合征 |
| tr | Retinal iskemik sendrom-sindirim sistemi küçük damar hyalinosis-diffüz serebral kalsifikasyon sendromu | Rambaud-Gallian sendromu · Rambaud-Gallian-Touchard sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277175 | E | validated | |
| ICD-10 | E78.8 | NTBT | attributed | validated |
| MONDO | 0010177 | E | validated | |
| MeSH | C535283 | E | validated | |
| UMLS | C4510224 | E | validated | |
| GARD | 4635 | 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:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3485063[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3485063[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/3018
- This record as JSON: /data/d/3018.json