Clinical Signs and Symptoms
ORPHA:699 Pearson syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of bone marrow cell morphology HP:0005561
- Bone marrow hypocellularity HP:0005528
- Elevated lactate:pyruvate ratio HP:0032653
- Hyperalaninemia HP:0003348
- Lacticaciduria HP:0003648
- Neutropenia HP:0001875
- Reticulocytosis HP:0001923
- Severe infection HP:0032169
Very frequent
- Abnormal heart morphology HP:0001627
- Abnormality of the nervous system HP:0000707
- Anemia HP:0001903
- Cardiomyopathy HP:0001638
- Corneal stromal edema HP:0012040
- Exocrine pancreatic insufficiency HP:0001738
- Hepatomegaly HP:0002240
- Increased CSF lactate HP:0002490
- Increased serum lactate HP:0002151
- Postnatal growth retardation HP:0008897
- Renal insufficiency HP:0000083
- Small for gestational age HP:0001518
- Splenomegaly HP:0001744
- Thrombocytopenia HP:0001873
Frequent
- Abnormality of the liver HP:0001392
- Ataxia HP:0001251
- Cardiac conduction abnormality HP:0031546
- Cataract HP:0000518
- Chronic diarrhea HP:0002028
- Decreased serum bicarbonate concentration HP:0032066
- Dehydration HP:0001944
- Developmental regression HP:0002376
- Diabetes mellitus HP:0000819
- Dysphagia HP:0002015
- Elevated hepatic transaminase HP:0002910
- Global developmental delay HP:0001263
- Glycosuria HP:0003076
- Growth delay HP:0001510
- Growth hormone deficiency HP:0000824
- Hearing impairment HP:0000365
- Hepatic failure HP:0001399
- Hepatic steatosis HP:0001397
- Hydrops fetalis HP:0001789
- Hypocalcemia HP:0002901
- Hypokalemia HP:0002900
- Hypomagnesemia HP:0002917
- Hypophosphatemia HP:0002148
- Hypothyroidism HP:0000821
- Lactic acidosis HP:0003128
- Malabsorption of Vitamin B12 HP:0200118
- Muscular hypotonia HP:0001252
- Muscular hypotonia of the trunk HP:0008936
- Ophthalmoplegia HP:0000602
- Pancreatic fibrosis HP:0100732
- Pancytopenia HP:0001876
- Pigmentary retinopathy HP:0000580
- Poor suck HP:0002033
- Proteinuria HP:0000093
- Ptosis HP:0000508
- Seizures HP:0001250
- Steatorrhea HP:0002570
Occasional
- Adrenal insufficiency HP:0000846
- Cafe-au-lait spot HP:0000957
- Cutaneous photosensitivity HP:0000992
- Hyperpigmentation of the skin HP:0000953
- Hypoparathyroidism HP:0000829
- Hypoplastic spleen HP:0006270
- Macronodular cirrhosis HP:0006577
- Median cleft lip and palate HP:0008501
- Microcephaly HP:0000252
- Nystagmus HP:0000639
- Renal cyst HP:0000107
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.