Michels Caskey syndrome

Summary

Michels Caskey syndrome (MONDO:0043131) is a disease. A subtype of 46,XX disorder of sex development — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Michels Caskey syndrome
Mondo ID	MONDO:0043131
MeSH	C537576
UMLS	C2931537
MedGen	419102
GARD	0003590
Is cancer (heuristic)	no

Also known as: Mullerian aplasia with hypoplastic thumbs · Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities

Disease family

This is a subtype of 46,XX disorder of sex development. 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 › reproductive system disorder › gonadal disorder › disorder of sexual differentiation › 46,XX disorder of sex development › Michels Caskey syndrome

Related subtypes (5): 46,XX disorder of sex development-skeletal anomalies syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, 46,XX disorder of sex development-anorectal anomalies syndrome, 46,XX testicular disorder of sex development, 46,XX true hermaphroditism, SRY-positive

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.