Isolated megalencephaly
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated megalencephaly | |
| fr | Mégalencéphalie isolée | Macroencéphalie |
| de | Megalenzephalie, isolierte | Makroenzephalie |
| es | Megalencefalia aislada | |
| it | Megalencefalia | Macroencefalia |
| nl | Geïsoleerde megalencefalie | |
| pt | Megalencefalia isolada | |
| pl | Megalencefalia | Macrencephaly |
| cs | Megalencefalie | Makrocefalie |
| uk | Мегаленцефалія | Макроенцефалія |
| zh | 巨脑 | 巨脑 |
| tr | Megalensefali | Makroensefali |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155350 | BTNT | validated | |
| OMIM | 248000 | BTNT | validated | |
| ICD-10 | Q04.5 | E | specific | validated |
| ICD-11 | LA05.1 | E | specific | validated |
| MONDO | 0016608 | E | validated | |
| UMLS | C2720434 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:269553Genetic cerebral malformation
rare genetic diseases - ORPHA:199633Non-syndromic cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:268920OBSOLETE: Isolated megalencephaly referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBC1D7 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21066 | ENSG00000145979 | 612655 | 6p24.1 | TBC1 domain family member 7 | 23687350[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0000490 | Deeply set eye | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0000307 | Pointed chin | |
| HP:0000269 | Prominent occiput | |
| HP:0000470 | Short neck | |
| HP:0001956 | Truncal obesity | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0002857 | Genu valgum | |
| HP:0000040 | Long penis | |
| HP:0000053 | Macroorchidism | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2477
- This record as JSON: /data/d/2477.json