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%)		 22100320
 Satoyoshi's syndrome related muscle spasms: functional study.
Pardal-Fernandez JM, Solera-Santos J, Iniesta-Lopez I, Rodriguez-Vazquez M.
Rev Neurol (Paris). 2012;168(3):291-5.
Diarrhea Muscle spasm
Alopecia Antibodies, Blocking Bone and Bones Diarrhea Electromyography Evoked Potentials, Motor Females Glutamate Decarboxylase H-Reflex Homo sapiens Neurologic Examination Parasympatholytics Spasm Spinal Cord Young Adult
8
(17.5%)		 21992906
 Satoyoshi syndrome.
Mukhopadhyay D, Ghosh A, Mukhopadhyay M.
Indian Pediatr. 2011;48(9):729-31.
Diarrhea Muscle spasm
Alopecia Bone and Bones Child Diarrhea Females Homo sapiens Spasm
8
(17.5%)		 19623421
 [Satoyoshi syndrome: report of one case].
Castiglioni C, Diaz A, Moenne K, Mericq V, Salvador F, Hernandez C.
Rev Med Chil. 2009;137(4):542-6.
Diarrhea Muscle spasm
Adrenal Cortex Hormones Alopecia Autoimmune Diseases Diarrhea Females Homo sapiens Spasm Syndrome
8
(17.5%)		 17405137
 Satoyoshi syndrome has antibody against brain and gastrointestinal tissue.
Matsuura E, Matsuyama W, Sameshima T, Arimura K.
Muscle Nerve. 2007;36(3):400-3.
Diarrhea Muscle spasm
Alopecia Autoantibodies Autoimmune Diseases Brain Diarrhea Females Homo sapiens Spasm Stomach Syndrome
8
(17.5%)		 16478652
 Satoyoshi syndrome: a rare multisystemic disorder requiring systemic and symptomatic treatment.
Heger S, Kuester RM, Volk R, Stephani U, Sippell WG.
Brain Dev. 2006;28(5):300-4.
Muscle spasm
Adult Bone Diseases, Developmental Combination Drug Therapy Endocrine System Diseases Females Glucocorticoids Homo sapiens Immunosuppressive Agents Spasm Steroids
8
(17.5%)		 15069249
 Satoyoshi syndrome.
Ashalatha R, Kishore A, Sarada C, Nair MD.
Neurol India. 2004;52(1):94-5.
Diarrhea Muscle spasm
Adult Alopecia Anemia, Hemolytic Anticonvulsants Autoimmune Diseases Electromyography Endocrine System Diseases Females Homo sapiens India Spasm Syndrome
8
(17.5%)		 14601924
 A case of Satoyoshi syndrome: a multisystem disorder.
Kamat D, Petry L, Berry S.
Clin Pediatr (Phila). 2003;42(8):745-8.
Immune dysregulation Muscle spasm
Alopecia Glucocorticoids Homo sapiens Male Muscle Spasticity Syndrome
8
(17.5%)		 12039433
 A unilateral presentation of 'Satoyoshi syndrome'.
Uddin AB, Walters AS, Ali A, Brannan T.
Parkinsonism Relat Disord. 2002;8(3):211-3.
Diarrhea Muscle spasm
Adult Alopecia Homo sapiens Male Spasm Syndrome
8
(17.5%)		 11737686
 Satoyoshi syndrome.
Wisuthsarewong W, Likitmaskul S, Manonukul J.
Pediatr Dermatol. 2001;18(5):406-10.
Diarrhea Muscle spasm
Alopecia Arthropathy Child Differential Diagnosis Females Homo sapiens Muscle Spasticity Syndrome
8
(17.5%)		 9868307
 [A case of Satoyoshi syndrome with symptoms resembling neuroleptic malignant syndrome].
Adachi H, Riku S, Fujishiro K, Kuru S.
Rinsho Shinkeigaku. 1998;38(7):637-40.
Tachycardia Rhabdomyolysis
Adult Anti-Anxiety Agents Homo sapiens Male Muscle Spasticity Neuroleptic Malignant 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