Satoyoshi syndrome

Summary

Satoyoshi syndrome (MONDO:0010922) is a disease. A subtype of alopecia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 24

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		50	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0031095	Abnormal humerus morphology	Very frequent (80-99%)
HP:0000013	Hypoplasia of the uterus	Very frequent (80-99%)
HP:0000130	Abnormality of the uterus	Very frequent (80-99%)
HP:0000137	Abnormality of the ovary	Very frequent (80-99%)
HP:0000141	Amenorrhea	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000924	Abnormality of the skeletal system	Very frequent (80-99%)
HP:0000944	Abnormal metaphysis morphology	Very frequent (80-99%)
HP:0001182	Tapered finger	Very frequent (80-99%)
HP:0001367	Abnormal joint morphology	Very frequent (80-99%)
HP:0001595	Abnormality of the hair	Very frequent (80-99%)
HP:0002289	Alopecia universalis	Very frequent (80-99%)
HP:0002815	Abnormality of the knee	Very frequent (80-99%)
HP:0002823	Abnormality of femur morphology	Very frequent (80-99%)
HP:0002970	Genu varum	Very frequent (80-99%)
HP:0003019	Abnormality of the wrist	Very frequent (80-99%)
HP:0003272	Abnormality of the hip bone	Very frequent (80-99%)
HP:0003307	Hyperlordosis	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0005930	Abnormality of epiphysis morphology	Very frequent (80-99%)
HP:0008724	Hypoplasia of the ovary	Very frequent (80-99%)
HP:0009806	Nephrogenic diabetes insipidus	Very frequent (80-99%)
HP:0011964	Intermittent painful muscle spasms	Very frequent (80-99%)
HP:0200102	Sparse or absent eyelashes	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Satoyoshi syndrome
Mondo ID	MONDO:0010922
MeSH	C536616
OMIM	600705
Orphanet	3130
SNOMED CT	763630007
UMLS	C1833454
MedGen	318882
GARD	0000160
MedDRA	10070579
Is cancer (heuristic)	no

Also known as: Komuragaeri disease · muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities · muscle spasms, intermittent with alopecia, diarrhoea and skeletal abnormalities · Satoyoshi syndrome

Disease family

This is a subtype of alopecia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › disorder of pilosebaceous unit › hair anomaly › alopecia › Satoyoshi syndrome

Related subtypes (25): alopecia, isolated, telogen effluvium, alopecia areata, chemotherapy-induced alopecia, alopecia mucinosa, atrichia with papular lesions, loose anagen syndrome, alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome, hereditary hypotrichosis with recurrent skin vesicles, alopecia antibody deficiency, pseudopelade of Brocq, frontal fibrosing alopecia, Quinquaud’s folliculitis decalvans, Graham Little-Piccardi-Lassueur syndrome, lichen planopilaris, hypotrichosis simplex, alopecia totalis, hypotrichosis simplex of the scalp, endocrine alopecia, alopecia universalis onychodystrophy vitiligo, central centrifugal cicatricial alopecia, ectodermal dysplasia alopecia preaxial polydactyly, Slti-Salem syndrome, microcephaly sparse hair intellectual disability seizures, alopecia universalis

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.