ORPHA:615986
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Synonyms: Lethal 1p36.33 deletion syndrome
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | Lethal 1p36.33 deletion syndrome |
| fr | Syndrome létal d'hypoplasie pontocérébelleuse-hypotonie-insuffisance respiratoire dû à des délétions bialléliques dans le cluster de gènes ATAD3 | Syndrome de délétion 1p36.33 létal |
| de | Fatale pontozerebelläre Hypoplasie-Hypotonie-Atemwegsinsuffizienz-Syndrom durch biallelischen Deletionen im ATAD3-Gencluster | 1p36.33-Deletionssyndrom, letal |
| es | Síndrome letal de hipoplasia pontocerebelosa-hipotonía-insuficiencia respiratoria por deleciones bialélicas en el grupo de genes ATAD3 | Síndrome letal de deleción 1p36.33 |
| it | Sindrome letale da ipoplasia pontocerebellare, ipotonia e insufficienza respiratoria causata da delezioni bialleliche nel cluster del gene ATAD3 | Sindrome letale da delezione 1p36.33 |
| nl | Letaal pontocerebellaire hypoplasie - hypotonie - respiratoire insufficiëntie-syndroom door biallelische deleties in ATAD3-gencluster | Letaal 1p36.33-deletiesyndroom |
| pt | Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster | |
| pl | Zespół letalna hipoplazja mostowo-móżdżkowa-hipotonia-niewydolność oddechowa wskutek obuallelicznych delecji w klastrze genu ATAD3 | = en |
| cs | Syndrom zahrnující letální pontocerebelární hypoplázii, hypotonii a respirační insuficienci způsobený bialelickými delecemi v genovém klastru ATAD3 | = en |
| uk | Летальний синдром понтоцеребелярної гіпоплазії-гіпотонії-дихальної недостатності, зумовлений біалельними делеціями у кластері генів ATAD3 | Летальний синдром делеції 1p36.33 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618810 | NTBT | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LD20.0Y | NTBT | attributed | validated |
| MONDO | 0036218 | E | validated | |
| UMLS | C5680385 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:615954Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:261857Partial deletion of the short arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATAD3A | Role in the phenotype of | Assessed | HGNC:25567 | ENSG00000197785 | 612316 | 1p36.33 | ATPase family AAA domain containing 3A | 27640307[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/615986
- This record as JSON: /data/d/615986.json