ORPHA:3327
Thyrocerebrorenal syndrome
historical
Synonyms: Cutler-Bass-Romshe syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thyrocerebrorenal syndrome | Cutler-Bass-Romshe syndrome |
| fr | Syndrome thyro-cérébro-rénal | Syndrome de Cutler-Bass-Romshe |
| de | Thyreo-zerebro-renales Syndrom | Cutle-Bass-Romshe-Syndrom |
| es | Síndrome tiroide-cerebro-renal | Síndrome de Cutler-Bass-Romshe |
| it | Sindrome tireo-cerebro-renale | Sindrome di Cutler-Bass-Romshe |
| nl | Thyrocerebrorenaal syndroom | Syndroom van Cutler-Bass-Romshe |
| pt | Síndrome tireo-cerebro-renal | Síndrome Cutler-Bass-Romshe |
| pl | Zespół tarczycowo-mózgowo-nerkowy | Zespół Cutlera, Bassa i Romshe'a |
| cs | Thyrocerebrorenální syndrom | Cutlerův-Bassův-Romsheův syndrom · Cutler-Bass-Romsheův syndrom |
| uk | Тироцереброренальний синдром | Синдром Катлера-Басса-Ромше |
| zh | 甲状腺-脑-肾综合征 | Cutler-Bass-Romshe综合征 |
| tr | Tiroserebrorenal sendrom | Cutler-Bass-Romshe sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274240 | E | validated | |
| ICD-10 | N15.8 | NTBT | attributed | validated |
| ICD-11 | GB90.Y | NTBT | attributed | validated |
| MONDO | 0010128 | E | validated | |
| UMLS | C4518579 | E | validated | |
| GARD | 1646 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 728567[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_728567[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.
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HPO phenotypes
11 annotations · validated 2017-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009127 | Abnormality of the musculature of the limbs | |
| HP:0009798 | Euthyroid goiter | |
| HP:0001336 | Myoclonus | |
| HP:0000123 | Nephritis | |
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001350 | Slurred speech | |
| HP:0001873 | Thrombocytopenia | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Annotation source: 728567[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3327
- This record as JSON: /data/d/3327.json