Isolated megalencephaly
diseaseOn this page
Also known as isolated macrencephalyisolated megalencephaly (disease)nonsyndromic megalencephaly (disease)
Summary
Isolated megalencephaly (MONDO:0017089) is a disease. A subtype of megalencephaly — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Phenotypes (HPO): 16
Clinical features
Signs & symptoms
Clinical features (HPO)
16 HPO clinical features (Orphanet curated; top 16 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | Very frequent (80-99%) |
| HP:0000256 | Macrocephaly | Very frequent (80-99%) |
| HP:0000268 | Dolichocephaly | Very frequent (80-99%) |
| HP:0000269 | Prominent occiput | Very frequent (80-99%) |
| HP:0000307 | Pointed chin | Very frequent (80-99%) |
| HP:0000431 | Wide nasal bridge | Very frequent (80-99%) |
| HP:0000470 | Short neck | Very frequent (80-99%) |
| HP:0000490 | Deeply set eye | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0001956 | Truncal obesity | Very frequent (80-99%) |
| HP:0002007 | Frontal bossing | Very frequent (80-99%) |
| HP:0002750 | Delayed skeletal maturation | Very frequent (80-99%) |
| HP:0000040 | Long penis | Frequent (30-79%) |
| HP:0000053 | Macroorchidism | Frequent (30-79%) |
| HP:0001631 | Atrial septal defect | Frequent (30-79%) |
| HP:0002857 | Genu valgum | Frequent (30-79%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | isolated megalencephaly |
| Mondo ID | MONDO:0017089 |
| Orphanet | 2477, 268920 |
| UMLS | C2720434 |
| MedGen | 439426 |
| GARD | 0020977 |
| Is cancer (heuristic) | no |
Also known as: isolated macrencephaly · isolated megalencephaly (disease) · nonsyndromic megalencephaly (disease)
Disease family
This is a subtype of megalencephaly. 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 › nervous system disorder › central nervous system disorder › brain disorder › megalencephaly › isolated megalencephaly
Related subtypes (3): megalencephaly, autosomal dominant, macrocephaly/megalencephaly syndrome, autosomal recessive, bagatelle Cassidy 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.