Ravine syndrome
Synonyms: Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ravine syndrome | Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome |
| fr | Syndrome Ravine | Encéphalopathie progressive avec anorexie infantile sévère · Syndrome d'anorexie-vomissement irrépressible-signes neurologiques |
| de | Ravine-Syndrom | Progressive Enzephalopathie mit schwerer infantiler Anorexie · Réunion-Anorexie-unkontrollierbares Erbrechen-Neurologische Symptome-Syndrom |
| es | Síndrome de Ravine | Encefalopatía progresiva con anorexia grave del lactante · Síndrome de la Isla de la Reunión-anorexia-vómitos incontenibles-signos neurológicos |
| it | Sindrome RAVINE | Encefalopatia progressiva con anoressia infantile grave · Isola di Reunion - anoressia - vomito incoercibile - segni neurologici |
| nl | Ravine-syndroom | Progressieve encefalopathie met ernstige infantiele anorexia · Réunion-eiland - anorexie - onbedwingbaar braken - neurologische tekenen-syndroom |
| pt | Reunião, Anorexia, Vómito Incoercível, e sinais NEurológicos (RAVINE) | |
| pl | Zespół Ravine | Postępująca encefalopatia z ciężką anoreksją niemowlęcą · Zespół wyspy Reunion, anoreksji, niepohamowanych wymiotów i objawów neurologicznych |
| cs | RAVINE syndrom | Progresivní encefalopatie s těžkou dětskou anorexií · Syndrom zahrnující anorexii ostrova Reunion, nepotlačitelné zvracení a neurologické znaky |
| uk | Синдром Равіна | Прогресуюча енцефалопатія з тяжкою формою дитячої анорексії · Острів воззєднання - анорексія - нестримне блювання - синдром неврологічних ознак |
| zh | RAVINE综合征 | 无法抑制的 Reunion岛-食欲减退-呕吐 神经性体征综合征 |
| tr | Ravine sendromu | Ağır infantil anoreksiyalı İlerleyici ensefalopati · Reunion adası-anoreksi-önlenemeyen kusma-nörolojik belirti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 0020505 | E | validated | |
| UMLS | C4275006 | 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:68356Leukodystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC7A2-IT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:54925 | ENSG00000279903 | 8p22 | SLC7A2 intronic transcript 1 | 22411793[PMID]_23637635[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 38 cases | Worldwide | Case(s) | Validated | 10429812[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10429812[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
14 annotations · validated 2016-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002039 | Anorexia | Diagnostic criterion |
| HP:0004325 | Decreased body weight | |
| HP:0001508 | Failure to thrive | |
| HP:0002448 | Progressive encephalopathy | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0002363 | Abnormal brainstem morphology | Diagnostic criterion |
| HP:0000932 | Abnormality of the posterior cranial fossa | Diagnostic criterion |
| HP:0001251 | Ataxia | |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem | Diagnostic criterion |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0000496 | Abnormality of eye movement | |
| Occasional (29-5%) | ||
| HP:0001600 | Abnormality of the larynx | |
| HP:0002104 | Apnea | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 22411793[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99852
- This record as JSON: /data/d/99852.json