Aplasia cutis-myopia syndrome
disease diseaseOn this page
Also known as aplasia cutis myopiaGershoni-Baruch-Leibo syndrome
Summary
Aplasia cutis-myopia syndrome (MONDO:0010988) is a disease. A subtype of aplasia cutis congenita — 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): 11
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 4 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
11 HPO clinical features (Orphanet curated; top 11 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001057 | Aplasia cutis congenita | Very frequent (80-99%) |
| HP:0001362 | Skull defect | Very frequent (80-99%) |
| HP:0006934 | Congenital nystagmus | Very frequent (80-99%) |
| HP:0007703 | Abnormality of retinal pigmentation | Very frequent (80-99%) |
| HP:0011003 | High myopia | Very frequent (80-99%) |
| HP:0000924 | Abnormality of the skeletal system | Occasional (5-29%) |
| HP:0001287 | Meningitis | Occasional (5-29%) |
| HP:0001892 | Abnormal bleeding | Occasional (5-29%) |
| HP:0001928 | Abnormality of coagulation | Occasional (5-29%) |
| HP:0012639 | Abnormal nervous system morphology | Occasional (5-29%) |
| HP:0200042 | Skin ulcer | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | aplasia cutis-myopia syndrome |
| Mondo ID | MONDO:0010988 |
| MeSH | C563394 |
| OMIM | 601075 |
| Orphanet | 1117 |
| SNOMED CT | 720499004 |
| UMLS | C1832826 |
| MedGen | 331375 |
| GARD | 0000756 |
| Is cancer (heuristic) | no |
Also known as: aplasia cutis myopia · Gershoni-Baruch-Leibo syndrome
Disease family
This is a subtype of aplasia cutis congenita. 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 › dermis disorder › mixed dermis disorder › aplasia cutis congenita › aplasia cutis-myopia syndrome
Related subtypes (2): aplasia cutis autosomal recessive, aplasia cutis congenita dominant
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.