Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
diseaseOn this page
Also known as acanthosis nigricans muscle cramps acral enlargementfamilial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
Summary
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome (MONDO:0008696) is a disease. A subtype of acanthosis nigricans — 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): 9
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 5 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
9 HPO clinical features (Orphanet curated; top 9 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000147 | Polycystic ovaries | Very frequent (80-99%) |
| HP:0000831 | Insulin-resistant diabetes mellitus | Very frequent (80-99%) |
| HP:0000845 | Elevated circulating growth hormone concentration | Very frequent (80-99%) |
| HP:0000855 | Insulin resistance | Very frequent (80-99%) |
| HP:0000956 | Acanthosis nigricans | Very frequent (80-99%) |
| HP:0001007 | Hirsutism | Very frequent (80-99%) |
| HP:0003394 | Muscle spasm | Very frequent (80-99%) |
| HP:0008675 | Enlarged polycystic ovaries | Very frequent (80-99%) |
| HP:0000105 | Enlarged kidney | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome |
| Mondo ID | MONDO:0008696 |
| MeSH | C536000 |
| OMIM | 200170 |
| Orphanet | 90301 |
| UMLS | C1860215 |
| MedGen | 348051 |
| GARD | 0000453 |
| Is cancer (heuristic) | no |
Also known as: acanthosis nigricans muscle cramps acral enlargement · familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps
Disease family
This is a subtype of acanthosis nigricans. 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 › skin disorder › dermatitis › acanthosis nigricans › acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Related subtypes (1): familial acanthosis nigricans
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.