Satoyoshi syndrome

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.



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Narrow down the case reports



Total: 29 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
8
(17.5%)
9804090
Satoyoshi's syndrome in an adult: a review of the literature of adult onset cases.
Ikeda K, Satoyoshi E, Kinoshita M, Wakata N, Iwasaki Y.
Intern Med. 1998;37(9):784-7.
Diarrhea Muscle spasm
Age of Onset Alopecia Diarrhea Disease Progression Females Homo sapiens Menstruation Disturbances Muscle Cramp Spasm Syndrome
8
(17.5%)
8891238
Intravenous gammaglobulin therapy of Satoyoshi syndrome.
Arita J, Hamano S, Nara T, Maekawa K.
Brain Dev. 1996;18(5):409-11.
Diarrhea Muscle spasm
Alopecia Cartilage Diseases Child Females Homo sapiens Immunotherapy Magnetic Resonance Imaging Muscle Spasticity Syndrome
8
(17.5%)
8139588
Masticatory muscle spasm in a non-Japanese patient with Satoyoshi syndrome successfully treated with botulinum toxin.
Merello M, Garcia H, Nogues M, Leiguarda R.
Mov Disord. 1994;9(1):104-5.
Muscle spasm
Dose-Response Relationship, Drug Electromyography Homo sapiens Male Middle Aged Spasm Syndrome
8
(17.5%)
6684258
Myasthenia gravis associated with Satoyoshi syndrome: muscle cramps, alopecia, and diarrhea.
Satoh A, Tsujihata M, Yoshimura T, Mori M, Nagataki S.
Neurology. 1983;33(9):1209-11.
Diarrhea Muscle spasm
Adult Alopecia Diarrhea Females Homo sapiens Muscle Cramp Myasthenia Gravis Syndrome
8
(17.5%)
6524180
[Positive therapeutic effect of diacarb in the syndrome of progressive muscle spasms, alopecia and diarrhea (Satoyoshi syndrome)].
Aver'ianov IuN, Vodolagin VD, Logunova LV, Levina LIa.
Zh Nevropatol Psikhiatr Im S S Korsakova. 1984;84(11):1623-7.
Diarrhea Muscle spasm
Alopecia Chromosome Aberrations Chromosomes, Human, 21-22 and Y Diarrhea Females Homo sapiens Muscle Spasticity Syndrome
8
(17.5%)
2044311
[A case of generalized komuragaeri disease (Satoyoshi disease) treated with glucocorticoid].
Yamagata T, Miyao M, Momoi M, Matsumoto S, Yanagisawa M.
Rinsho Shinkeigaku. 1991;31(1):79-83.
Amenorrhea Muscle spasm
Alopecia Autoimmune Diseases Diarrhea Females Homo sapiens Muscle Spasticity Syndrome
27
(4.0%)
28267828
Satoyoshi Syndrome with Progressive Orofacial Manifestations: A Case History Report.
Li J, Peng D, Jiang T, Avivi-Arber L.
Int J Prosthodont. 2017;30(2):163-167.
Amenorrhea
Adult Alopecia Anticonvulsants Bone and Bones China Diarrhea Females Homo sapiens Spasm Steroids
27
(4.0%)
18607399
A case of adult-onset Satoyoshi syndrome with gastric ulceration and eosinophilic enteritis.
Asherson RA, Giampaolo D, Strimling M.
Nat Clin Pract Rheumatol. 2008;4(8):439-44.
Diarrhea
Enteritis Eosinophilia Females Homo sapiens Middle Aged Spasm Syndrome
27
(4.0%)
16972238
Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study.
Drost G, Verrips A, van Engelen BG, Stegeman DF, Zwarts MJ.
Mov Disord. 2006;21(11):2015-8.
Disinhibition
Alopecia Child Electromyography Females Homo sapiens Muscle Contraction Muscle Spasticity Neuromuscular Diseases Pain Pain Measurement Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000013 Hypoplasia of the uterus Very frequent (99-80%)
HP:0000130 Abnormality of the uterus Very frequent (99-80%)
HP:0000137 Abnormality of the ovary Very frequent (99-80%)
HP:0000141 Amenorrhea Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000924 Abnormality of the skeletal system Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001367 Abnormal joint morphology Very frequent (99-80%)
HP:0001595 Abnormal hair morphology Very frequent (99-80%)
HP:0002289 Alopecia universalis Very frequent (99-80%)
HP:0002815 Abnormality of the knee Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002970 Genu varum Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003063 Abnormality of the humerus Very frequent (99-80%)
HP:0003272 Abnormality of the hip bone Very frequent (99-80%)
HP:0003307 Hyperlordosis Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005930 Abnormality of epiphysis morphology Very frequent (99-80%)
HP:0008724 Hypoplasia of the ovary Very frequent (99-80%)
HP:0009806 Nephrogenic diabetes insipidus Very frequent (99-80%)
HP:0011964 Intermittent painful muscle spasms Very frequent (99-80%)
HP:0200102 Sparse or absent eyelashes Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0003394 Muscle spasm 14
HP:0002014 Diarrhea 12
HP:0002024 Malabsorption 5
HP:0000141 Amenorrhea 2
HP:0002652 Skeletal dysplasia 2
HP:0000230 Gingivitis 1
HP:0002748 Rickets 1
HP:0002958 Immune dysregulation 1
HP:0011964 Intermittent painful muscle spasms 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID