SATOYOSHI SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCLE SPASMS, INTERMITTENT, WITH ALOPECIA, DIARRHEA, AND SKELETAL ABNORMALITIES
KOMURAGAERI DISEASE
Number of Symptoms 32
OrphanetNr:
OMIM Id: 600705
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000141) Amenorrhea 16 / 7739
2
(HPO:0000013) Hypoplasia of the uterus 21 / 7739
3
(HPO:0008724) Hypoplasia of the ovary 6 / 7739
4
(HPO:0010743) Short metatarsal rare [HPO:skoehler] 56 / 7739
5
(HPO:0010049) Short metacarpal rare [HPO:skoehler] 99 / 7739
6
(HPO:0004686) Short third metatarsal 9 / 7739
7
(HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
8
(HPO:0002857) Genu valgum 144 / 7739
9
(HPO:0002797) Osteolysis 68 / 7739
10
(HPO:0005720) Shortening of all metacarpals 12 / 7739
11
(HPO:0001156) Brachydactyly syndrome rare [HPO:skoehler] 180 / 7739
12
(HPO:0002758) Osteoarthritis 78 / 7739
13
(HPO:0001763) Pes planus 176 / 7739
14
(HPO:0002014) Diarrhea 225 / 7739
15
(HPO:0002024) Malabsorption 142 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0002289) Alopecia universalis 20 / 7739
18
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
19
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
20
(OMIM) Muscle cramps may affect jaw muscles 1 / 7739
21
(MedDRA:10072883) Brachydactyly 153 / 7739
22
(OMIM) Antinuclear antibody present, speckled pattern 1 / 7739
23
(OMIM) Atrophic breast tissue 1 / 7739
24
(OMIM) Increased serum IgE 4 / 7739
25
(HPO:0003745) Sporadic 131 / 7739
26
(OMIM) Cystic lesions of metaphyses 1 / 7739
27
(OMIM) Bone fragmentation at tendinous insertions 1 / 7739
28
(OMIM) Fatigue fractures 1 / 7739
29
(OMIM) Increased serum uric acid 1 / 7739
30
(OMIM) Slipping of multiple epiphyses 1 / 7739
31
(OMIM) Muscle cramps affect the upper and lower limbs 1 / 7739
32
(OMIM) Muscle cramps, painful, recurrent 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means ...
Clinical Description OMIM Satoyoshi and Yamada (1967) first reported this disorder in 2 patients with recurrent muscle spasms.

Ehlayel and Lacassie (1995) reported a 19.5-year-old woman who presented with primary amenorrhea, alopecia, bony deformities, and short stature. Alopecia began ...