Diencephalic syndrome
Synonyms: Diencephalic cachexia · Diencephalic syndrome of childhood · Diencephalic syndrome of emaciation · Russell diencephalic cachexia · Russell syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diencephalic syndrome | Diencephalic cachexia · Diencephalic syndrome of childhood · Diencephalic syndrome of emaciation · Russell diencephalic cachexia · Russell syndrome |
| fr | Syndrome diencéphalique | Cachexie diencéphalique de Russell · Syndrome diencéphalique d'émaciation · Cachexie diencéphalique |
| de | Dienzephales Syndrom | Dienzephale Kachexie · Dienzephale Kachexie vom Typ Russell · Dienzephales Abmagerungssyndrom nach Russell · Dienzephalisches Syndrom der Kindheit · Russell-Syndrom |
| es | Síndrome diencefálico | Caquexia diencefálica · Caquexia diencefálica de Russell · Síndrome de Russell · Síndrome de emaciación diencefálica · Síndrome diencefálico de la infancia |
| it | Sindrome diencefalica | Cachessia diencefalica · Cachessia diencefalica di Russell · Sindrome di Russell · Sindrome diencefalica da emaciamento · Sindrome diencefalica dell'infanzia |
| nl | Diëncefaal syndroom | Diëncefaal syndroom van de kindertijd · Diëncefaal syndroom van vermagering · Diëncefale cachexie · Russell diëncefale cachexie · Syndroom van Russell |
| pt | Síndrome diencefálico | |
| pl | Zespół międzymózgowia | Dziecięcy zespół międzymózgowia · Kacheksja diencefaliczna · Kacheksja diencefaliczna Russella · Zespół Russella |
| cs | Diencefalický syndrom | Diencefalická kachexie · Diencefalický syndrom vyhublosti · Russelova diencefalická kachexie · Diencefalický syndrom dětského věku · Russelův syndrom |
| uk | Діенцефальний синдром | Діенцефальна кахексія · Діенцефальний синдром дитячого віку · Діенцефальний синдром виснаження · Діенцефальна кахексія Рассела · Синдром Рассела |
| zh | 间脑综合征 | 消瘦性间脑综合征 |
| tr | Diensefalik sendrom | Russell sendromu · Diensefalik kaşeksi · Russell diensefalik kaşeksi · Çocukluk çağı diensefalik sendromu · Diensefalik zayıflama sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C72.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.Y | NTBT | index | validated |
| MONDO | 0015663 | E | validated | |
| UMLS | C0342436 | E | validated | |
| GARD | 6276 | E | validated | |
| MedDRA | 10087520 | 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:181384Rare hypothalamic or pituitary disease
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0000708 | Atypical behavior | |
| HP:0004326 | Cachexia | |
| HP:0004325 | Decreased body weight | |
| HP:0004375 | Neoplasm of the nervous system | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000238 | Hydrocephalus | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000040 | Long penis | |
| HP:0000400 | Macrotia | |
| HP:0000639 | Nystagmus | |
| Occasional (29-5%) | ||
| HP:0001176 | Large hands | |
| HP:0000648 | Optic atrophy | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1672
- This record as JSON: /data/d/1672.json