ORPHA:718037
Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency
Synonyms: MPD with CID due to PRIM1 deficiency · Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency | MPD with CID due to PRIM1 deficiency · Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to primase polypeptide 1 deficiency |
| fr | Nanisme primordial syndromique avec immunodéficience combinée par déficit en PRIM1 | Nanisme primordial syndromique avec CID par déficit en PRIM1 · Nanisme primordial syndromique avec DIC par déficit en PRIM1 · Nanisme primordial syndromique avec immunodéficience combinée par déficit en protéine primase polypeptide 1 |
| de | Syndromaler mikrozephaler primordialer Kleinwuchs mit kombiniertem Immundefekt durch PRIM1-Mangel | MPD mit CID durch PRIM1-Defizienz · Primordialer Kleinwuchs-Immundefekt-Lipodystrophie-Syndrom · PDIL |
| es | Síndrome de talla baja primordial microcefálica con inmunodeficiencia combinada por deficiencia de PRIM1 | Síndrome de enanismo primordial microcefálico con inmunodeficiencia combinada por deficiencia de PRIM1 · Síndrome de enanismo primordial microcefálico con inmunodeficiencia combinada por deficiencia del polipéptido 1 de la primasa · MPD con CID por deficiencia de PRIM1 · MPD con IDC por deficiencia de PRIM1 |
| it | Sindrome nanismo microcefalico primitivo con immunodeficienza combinata da deficit di PRIM1 | MPD con CID da deficit di PRIM1 · Sindrome da nanismo microcefalico primitivo con immunodeficienza combinata da deficit della primasi polipeptide 1 |
| nl | Syndroom van microcefale primordiale dwerggroei met gecombineerde immuundeficiëntie door PRIM1-deficiëntie | MPD met CID door PRIM1-deficiëntie · Syndroom van microcefale primordiale dwerggroei met gecombineerde immuundeficiëntie door deficiëntie van primase polypeptide 1 |
| pt | Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency | |
| pl | Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency | = en |
| cs | Microcephalic primordial dwarfism syndrome with combined immunodeficiency due to PRIM1 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620005 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRIM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9369 | ENSG00000198056 | 176635 | 12q13.3 | DNA primase subunit 1 | 33060134[PMID]_38773012[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/718037
- This record as JSON: /data/d/718037.json