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)
1
(42.7%)		 28215594
 Adult-onset Satoyoshi syndrome in a young male.
Montanaro VV, Hora TF, Couto CM, Ribas FD.
Neuromuscul Disord. 2017;27(4):382-384.
Trismus
Adult Age of Onset Alopecia Bone and Bones Brazil Diarrhea Homo sapiens Male Spasm
2
(36.8%)		 12710092
 [A case of Satoyoshi syndrome complicating marginal gingivitis of the mandible and dislocation of the temporomandibular joint].
Matsumura T, Yokoe M, Shinno S.
Rinsho Shinkeigaku. 2002;42(9):889-91.
Gingivitis Muscle spasm
Bone and Bones Gingivitis Homo sapiens Joints Male Mandible Syndrome Temporomandibular Joint Tooth Extraction Trismus
3
(32.7%)		 19839037
 Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity.
Venegas-Vega CA, Rivera-Vega MR, Cuevas-Covarrubias S, Orozco J, Kofman-Alfaro S.
Am J Med Genet A. 2009;149A(11):2448-51.
Amenorrhea Metaphyseal chondrodysplasia
Adult Alopecia Bone and Bones Child Child, Preschool Facies Females Homo sapiens Male Syndrome
4
(21.2%)		 22612551
 Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities.
Merino de Paz N, Rodriguez-Martin M, Contreras Ferrer P, Eliche MP, Noda Cabrera A.
Pediatr Dermatol. 2013;30(3):e22-4.
Diarrhea Rickets
Alopecia Bone and Bones Child Diagnostic Errors Diarrhea Females Homo sapiens Osteolysis Skin Spasm
4
(21.2%)		 21301038
 [Satoyoshi syndrome].
Satoyoshi E.
Brain Nerve. 2011;63(2):141-6.
Amenorrhea Skeletal dysplasia
Age of Onset Alopecia Bone and Bones Diarrhea Females Homo sapiens Male Spasm Young Adult
4
(21.2%)		 9133353
 Radiological and orthopedic abnormalities in Satoyoshi syndrome.
Haymon M, Willis RB, Ehlayel MS, Lacassie Y.
Pediatr Radiol. 1997;27(5):415-8.
Amenorrhea Skeletal dysplasia
Adult Alopecia Amenorrhea Body Height Bone Diseases, Developmental Bone and Bones Females Glucocorticoids Homo sapiens Muscle Spasticity Syndrome
4
(21.2%)		 7573141
 Satoyoshi syndrome: an unusual postnatal multisystemic disorder.
Ehlayel MS, Lacassie Y.
Am J Med Genet. 1995;57(4):620-5.
Amenorrhea Skeletal dysplasia
Adult Alopecia Child Diarrhea Differential Diagnosis Females Homo sapiens Muscle Spasticity Osteochondrodysplasias Phenotype Syndrome
8
(17.5%)		 28940615
 Satoyoshi syndrome-A case report from India.
Mani V, George R.
Pediatr Dermatol. 2017;34(6):e296-e298.
Diarrhea Intermittent painful muscle spasms
Alopecia Bone and Bones Child Diarrhea Females Glucocorticoids Homo sapiens India Spasm
8
(17.5%)		 27011647
(4782532)
 Adult-onset Satoyoshi syndrome and response to plasmapheresis.
Aghoram R, Srijithesh PR, Kannoth S.
Ann Indian Acad Neurol. 2016;19(1):131-3.
Diarrhea Muscle spasm
8
(17.5%)		 25500444
 Adult-onset Satoyoshi syndrome with prominent laterality of clinical features.
Ishihara M, Ogawa K, Suzuki Y, Kamei S, Ochiai T, Sonoo M.
Intern Med. 2014;53(24):2811-6.
Muscle spasm
Alopecia Bone and Bones Diarrhea Homo sapiens Male Middle Aged Skin Spasm
        

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