ORPHA:29822
Spontaneous periodic hypothermia
Synonyms: Episodic spontaneous hypothermia · Shapiro syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spontaneous periodic hypothermia | Episodic spontaneous hypothermia · Shapiro syndrome |
| fr | Hypothermie périodique spontanée | Syndrome de Shapiro |
| de | Spontane periodische Hypothermie | Hypothermie, episodische spontane · Shapiro-Syndrom |
| es | Hipotermia periódica espontánea | Hipotermia episódica espontánea · Síndrome de Shapiro |
| it | Ipotermia periodica spontanea | Ipotermia spontanea episodica · Sindrome di Shapiro |
| nl | Spontane periodieke hypothermie | Episodische spontane hypothermie · Syndroom van Shapiro |
| pt | Hipotermia periódica espontânea | Síndrome Shapiro |
| pl | Spontaniczna przejściowa hipotermia | Okresowa spontaniczna hipotermia · Zespół Shapiro |
| cs | Spontánní periodická hypotermie | Epizodická spontánní hypotermie · Shapirův syndrom |
| uk | Спонтанна періодична гіпотермія | Епізодична спонтанна гіпотермія · Синдром Шапіро |
| zh | 自发性周期性低体温 | 间歇性自发性低体温 |
| tr | Sponten periyodik hipotermi | Shapiro sendromu · Epizodik spontan hipotermi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G90.8 | NTBT | attributed | validated |
| ICD-11 | 8D80 | NTBT | index | validated |
| MONDO | 0017577 | E | validated | |
| MeSH | C537594 | E | validated | |
| UMLS | C2931542 | E | validated | |
| GARD | 4815 | 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:98006Rare neurologic disease
rare neurological diseases
No children.
4
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 | 50 cases | Worldwide | Case(s) | Validated | 21166673[PMID]_15990200[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0000975 | Hyperhidrosis | |
| HP:0002045 | Hypothermia | |
| HP:0002017 | Nausea and vomiting | |
| HP:0000980 | Pallor | |
| Frequent (79-30%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0004372 | Reduced consciousness | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002014 | Diarrhea | |
| HP:0000988 | Skin rash | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/29822
- This record as JSON: /data/d/29822.json