ORPHA:760
Purine nucleoside phosphorylase deficiency
Synonyms: PNP deficiency · PNPase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare immune disease characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Purine nucleoside phosphorylase deficiency | PNP deficiency · PNPase deficiency |
| fr | Déficit en purine nucléoside phosphorylase | Déficit en PNP · Déficit en PNPase |
| de | Purin-Nukleosid-Phosphorylase-Mangel | PNP-Mangel · PNPase-Mangel |
| es | Deficiencia de purina nucleósido fosforilasa | Deficiencia de PNP · Deficiencia de PNPasa |
| it | Deficit di purina nucleoside fosforilasi | Deficit di PNP · Deficit di PNPasi |
| nl | Deficiëntie van purinenucleosidefosforylase | PNP-deficiëntie · PNPase-deficiëntie |
| pt | Deficiência de nucleosídeos purínicos fosforilase | |
| pl | Niedobór fosforylazy nukleozydów purynowych | Niedobór PNP · Niedobór PNPazy |
| cs | Deficit purin-nukleosid-fosforylázy | Deficit PNP · Deficit PNPázy |
| uk | Дефіцит пуриннуклеозидфосфорилази | Дефіцит PNP · Дефіцит PNPази |
| zh | 嘌呤核苷磷酸化酶缺陷 | 嘌呤核苷磷酸化酶缺陷 |
| tr | Pürin nükleozid fosforilaz eksikliği | PNP eksikliği · PNPase eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613179 | E | validated | |
| ICD-10 | D81.5 | E | specific | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0013171 | E | validated | |
| MeSH | C562587 | E | validated | |
| UMLS | C0268125 | E | validated | |
| GARD | 4606 | E | validated | |
| MedDRA | 10086665 | 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 (3):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7892 | ENSG00000198805 | 164050 | 14q11.2 | purine nucleoside phosphorylase | 11453975[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 72 cases | Worldwide | Case(s) | Validated | 30885031[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_30885031[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.
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HPO phenotypes
29 annotations · validated 2019-11-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002843 | Abnormal T cell morphology | |
| HP:0011935 | Decreased urinary urate | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001890 | Autoimmune hemolytic anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0005363 | Humoral immunodeficiency | |
| HP:0003537 | Hypouricemia | |
| HP:0002719 | Recurrent infections | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004430 | Severe combined immunodeficiency | |
| HP:0032166 | Unusual gastrointestinal infection | |
| Occasional (29-5%) | ||
| HP:0011442 | Abnormality of central motor function | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0100021 | Cerebral palsy | |
| HP:0045080 | Decreased proportion of CD3-positive T cells | |
| HP:0001263 | Global developmental delay | |
| HP:0000752 | Hyperactivity | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001888 | Lymphopenia | |
| HP:0002664 | Neoplasm | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| Very rare (<4-1%) | ||
| HP:0001973 | Autoimmune thrombocytopenia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001297 | Stroke | |
| HP:0002725 | Systemic lupus erythematosus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 1931007[PMID]_16176880[PMID]_22038677[PMID]_22132981[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/760
- This record as JSON: /data/d/760.json