Weinstein kliman scully syndrome
diseaseOn this page
Also known as cardiomyopathy, hypogonadism and metabolic anomaliesprimary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities
Summary
Weinstein kliman scully syndrome (MONDO:0043077) is a disease. A subtype of hypogonadism — 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 | weinstein kliman scully syndrome |
| Mondo ID | MONDO:0043077 |
| MeSH | C536688 |
| UMLS | C2931289 |
| MedGen | 419765 |
| GARD | 0000392 |
| Is cancer (heuristic) | no |
Also known as: cardiomyopathy, hypogonadism and metabolic anomalies · primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities
Disease family
This is a subtype of hypogonadism. 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 › hypogonadism › weinstein kliman scully syndrome
Related subtypes (5): gonadal dysgenesis, eunuchism, hypogonadism, male, hypogonadotropic hypogonadism, Slti-Salem syndrome
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.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.