NDE1-related microhydranencephaly
Synonyms: MHAC
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NDE1-related microhydranencephaly | MHAC |
| fr | Microhydranencéphalie associée à NDE1 | = en |
| de | NDE1-bedingte Mikrohydranenzephalie | = en |
| es | Microhidranencefalia asociada al gen NDE1 | = en |
| it | Microidranencefalia correlata a NDE1 | = en |
| nl | NDE1-gerelateerde microhydranencefalie | = en |
| pt | Microhidranencefalia NDE1- relacionada | |
| pl | Mikrohydranencefalia zależna od NDE1 | = en |
| cs | NDE1-vázaná mikrohydranencefalie | = en |
| uk | Мікрогідраненцефалія, повязана з NDE1 | = en |
| zh | NDE1相关微积水性无脑 | = en |
| tr | NDE1-ilişkili mikrohidranensefali | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605013 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0011504 | E | validated | |
| UMLS | C1857977 | E | validated | |
| GARD | 10216 | 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 (4):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NDE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17619 | ENSG00000072864 | 609449 | 16p13.11 | nudE neurodevelopment protein 1 | 22526350[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 22526350[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22526350[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443162
- This record as JSON: /data/d/443162.json