ORPHA:699
Pearson syndrome
Synonyms: PMPS · Pearson marrow-pancreas syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Mitochondrial inheritance, Not applicable
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare mitochondrial oxidative phosphorylation disorder due to large-scale single deletion of mitochondrial DNA characterized by hyporegenerative anemia in early infancy with vacuolization of bone marrow precursors, lactic acidosis and multi-organ dysfunctions such as exocrine pancreatic dysfunction, and renal tubulopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pearson syndrome | PMPS · Pearson marrow-pancreas syndrome |
| fr | Syndrome de Pearson | Syndrome de Pearson moelle-pancreas |
| de | Pearson-Syndrom | PMPS · Pearson-Knochenmark-Pankreas-Syndrom |
| es | Síndrome de Pearson | Síndrome médula-páncreas de Pearson |
| it | Sindrome di Pearson | PMPS · Sindrome di Pearson midollo-pancreas |
| nl | Syndroom van Pearson | Beenmerg - pancreas-syndroom van Pearson · PMPS |
| pt | Síndrome Pearson | PMPS · Síndrome medula-pâncreas Pearson |
| pl | Zespół Pearsona | = en |
| cs | Pearsonův syndrom | = en |
| uk | Синдром Пірсона | Синдром кісткового мозку-підшлункової залози Пірсона · PMPS |
| zh | Pearson综合征 | |
| tr | Pearson sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 557000 | E | validated | |
| ICD-10 | D64.0 | NTBT | attributed | validated |
| ICD-11 | 3A72.01 | NTBT | index | validated |
| MONDO | 0010797 | E | validated | |
| UMLS | C0342784 | E | validated | |
| GARD | 7343 | E | validated | |
| MedDRA | 10062941 | 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 (4):
- ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:104013Metabolic disease with intestinal involvement
rare gastroenterological diseases; rare genetic diseases - ORPHA:254767Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
rare inborn errors of metabolism; rare genetic diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.004 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Cases/families | 194 cases | Worldwide | Case(s) | Validated | 33837965[PMID]_36820126[PMID]_ORPHANET |
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
70 annotations · validated 2020-03-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005561 | Abnormality of bone marrow cell morphology | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0032653 | Elevated lactate:pyruvate ratio | |
| HP:0003348 | Hyperalaninemia | |
| HP:0003648 | Lacticaciduria | |
| HP:0001923 | Reticulocytosis | |
| HP:0032169 | Severe infection | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001903 | Anemia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0012040 | Corneal stromal edema | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0002240 | Hepatomegaly | |
| HP:0002490 | Increased CSF lactate | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000083 | Renal insufficiency | |
| HP:0001518 | Small for gestational age | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0031546 | Cardiac conduction abnormality | |
| HP:0000518 | Cataract | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0032066 | Decreased serum bicarbonate concentration | |
| HP:0001944 | Dehydration | |
| HP:0002376 | Developmental regression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002015 | Dysphagia | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0003076 | Glycosuria | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001399 | Hepatic failure | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002901 | Hypocalcemia | |
| HP:0002900 | Hypokalemia | |
| HP:0002917 | Hypomagnesemia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0200118 | Malabsorption of Vitamin B12 | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0100732 | Pancreatic fibrosis | |
| HP:0001876 | Pancytopenia | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0002033 | Poor suck | |
| HP:0000093 | Proteinuria | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0002570 | Steatorrhea | |
| Very rare (<4-1%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0006270 | Hypoplastic spleen | |
| HP:0006577 | Macronodular cirrhosis | |
| HP:0009099 | Median cleft palate | |
| HP:0000252 | Microcephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000107 | Renal cyst | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301382[PMID]_29337599[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/699
- This record as JSON: /data/d/699.json