Satoyoshi syndrome
Synonyms: Komuragaeri disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Satoyoshi syndrome | Komuragaeri disease |
| fr | Syndrome de Satoyoshi | |
| de | Satoyoshi-Syndrom | |
| es | Síndrome de Satoyoshi | |
| it | Sindrome di Satoyoshi | |
| nl | Syndroom van Satoyoshi | |
| pt | Síndrome Satoyoshi | |
| pl | Zespół Satoyoshi | = en |
| cs | Satoyoshiho syndrom | = en |
| uk | Синдром Сатойоші | Хвороба Комурагаері |
| zh | Satoyoshi 综合征 | Komuragaeri病 |
| tr | Satoyoshi sendromu | Komuragaeri hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600705 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A4Y | NTBT | attributed | validated |
| MONDO | 0010922 | E | validated | |
| MeSH | C536616 | E | validated | |
| UMLS | C1833454 | E | validated | |
| GARD | 160 | E | validated | |
| MedDRA | 10070579 | 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 (4):
- ORPHA:79364Alopecia
rare skin diseases - ORPHA:117569Rare intestinal disease
rare gastroenterological diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases - ORPHA:182228Systemic autoimmune 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19839037[PMID] |
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 19839037[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0001367 | Abnormal joint morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000137 | Abnormality of the ovary | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0002289 | Alopecia universalis | |
| HP:0000141 | Amenorrhea | |
| HP:0002970 | Genu varum | |
| HP:0003307 | Hyperlordosis | |
| HP:0008724 | Hypoplasia of the ovary | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0011964 | Intermittent painful muscle spasms | |
| HP:0000252 | Microcephaly | |
| HP:0009806 | Nephrogenic diabetes insipidus | |
| HP:0004322 | Short stature | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0001182 | Tapered finger | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3130
- This record as JSON: /data/d/3130.json