MCID: PRS023
MIFTS: 54

Pearson Syndrome malady

Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases categories

Summaries for Pearson Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Pearson syndrome is a mitochondrial disorder characterized by transfusion-dependent sideroblastic anemia and pancreatic dysfunction resulting in in malabsorption and chronic diarrhea. the features of this progressive disorder may change over time. individuals who survive beyond infancy often develop the symptoms of kearns-sayre syndrome or leigh syndrome. pearson syndrome is caused by deletions in mitochondrial dna. inheritance is usually sporadic.   last updated: 11/21/2011

MalaCards: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to mitochondrial disorders and lactic acidosis, and has symptoms including intrauterine growth retardation, failure to thrive/difficulties for feeding in infancy/growth delay and organic acid metabolism anomalies. An important gene associated with Pearson Syndrome is GLRX5 (glutaredoxin 5), and among its related pathways are Glycine, serine and threonine metabolism and Citric acid cycle (TCA cycle). The compounds protoporphyrin ix and iron-sulfur have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and bone marrow.

Disease Ontology:8 A mitochondrial disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Genetics Home Reference:21 Pearson marrow-pancreas syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson marrow-pancreas syndrome is considered a bone marrow failure disorder. Function of the pancreas and other organs can also be affected.

Wikipedia:63 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

Description from OMIM:46 557000

Aliases & Classifications for Pearson Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
pearson syndrome:
Inheritance: Mitochondrial inheritance,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pearson syndrome 8 42 21 10 48 46
pearson marrow-pancreas syndrome 8 42 21
pearson's syndrome 42 20 22
sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction 42
pearson's marrow/pancreas syndrome 42
pearson's marrow-pancreas syndrome 60


External Ids:

Disease Ontology8 DOID:0060067
OMIM46 557000
ICD10 via Orphanet26 D64.0
SNOMED-CT via Orphanet57 237985009

Related Diseases for Pearson Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pearson Syndrome:



Diseases related to pearson syndrome

Clinical Features for Pearson Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

557000

Clinical synopsis from OMIM:

557000

Symptoms:

48 (show all 14)
  • intrauterine growth retardation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • organic acid metabolism anomalies
  • hemoglobinosis/hemoglobinopathy
  • malabsorption/chronic diarrhea/steatorrhea
  • storage liver disease
  • structural anomalies of the pancreas
  • anomaly of pancreatic hormones
  • insulin-dependent/type 1 diabetes
  • hypotonia
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • anaemia
  • abnormal pigmentary skin changes/skin pigmentation anomalies

Drugs & Therapeutics for Pearson Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Pearson Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Pearson Syndrome:

id Genetic test Affiliating Genes
1 Pearson Syndrome20
2 Pearson's Syndrome22

Anatomical Context for Pearson Syndrome

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Pearson Syndrome:

32
Pancreas, Bone, Bone marrow, Skin, Liver, Eye, Heart, Endothelial

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Pearson Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 PancreasPancreatic AciniAcinar Cells Affected by disease

Animal Models for Pearson Syndrome or affiliated genes

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Publications for Pearson Syndrome

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50PubMed
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Articles related to Pearson Syndrome:

(show all 44)
idTitleAuthorsYear
1
Corneal endothelial dysfunction in Pearson syndrome. (21936618)
2013
2
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. (22424738)
2012
3
Clinical manifestations and management of four children with Pearson syndrome. (22012855)
2011
4
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. (21741369)
2011
5
Celiac disease in siblings with Pearson syndrome. (20228667)
2010
6
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. (18553104)
2009
7
Pearson syndrome in the neonatal period: two case reports and review of the literature. (19881395)
2009
8
Transient corneal edema and left hemisphere dysfunction in pearson syndrome. (19491648)
2009
9
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (19026771)
2009
10
Cutaneous zygomycosis in an infant with Pearson syndrome. (17914738)
2008
11
Two new cases with Pearson syndrome and review of Hacettepe experience. (19227422)
2008
12
Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion. (17219391)
2007
13
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
2007
14
The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
2007
15
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
2005
16
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
2005
17
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
2004
18
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
2003
19
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
2002
20
Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
2001
21
Early onset of complete heart block in Pearson syndrome. (11117437)
2000
22
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
23
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
1999
24
Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
1999
25
Fatal acidosis in a neonate with Pearson syndrome. (10770098)
1999
26
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
1998
27
Schwachman or Pearson syndrome. (9495386)
1998
28
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
1998
29
The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
1997
30
Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
1997
31
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
1996
32
A case of Pearson syndrome associated with multiple renal cysts. (8897573)
1996
33
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
1995
34
A novel mtDNA deletion in an infant with Pearson syndrome. (7837757)
1994
35
Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
1994
36
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
37
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
1993
38
Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay. (1405463)
1992
39
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
1992
40
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
41
Organic aciduria in Pearson syndrome. (1915526)
1991
42
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
1991
43
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. (1712754)
1991
44
Juvenile Pearson syndrome. (2398232)
1990

Genetic Variations for Pearson Syndrome

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Expression for genes affiliated with Pearson Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pearson Syndrome

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Pathways for genes affiliated with Pearson Syndrome

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Pearson Syndrome

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44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Pearson Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1protoporphyrin ix44 11 2411.9ABCB7, ALAS2
2iron-sulfur449.8ALAS2, ABCB7
3didanosine44 1110.8POLG, DGUOK
4deoxyguanosine44 2410.8DGUOK, POLG
5nevirapine44 49 1111.6POLG, ABCB7
6dctp44 2410.6DGUOK, POLG
7parathion44 2410.6POLG, DGUOK
8dgtp44 2410.5POLG, DGUOK
9Coenzyme A11 2410.4ALAS2, SUCLG1, DLD
10trna449.0GFM1, PUS1

GO Terms for genes affiliated with Pearson Syndrome

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16Gene Ontology
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Cellular components related to Pearson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.8ALAS2, SUCLG1, DLD, DGUOK
2mitochondrial inner membraneGO:0057438.0POLG, ABCB7, SLC25A38, SUCLG1, ALAS2
3mitochondrionGO:0057396.0ALAS2, PUS1, DGUOK, TRMU, POLG, GLRX5

Biological processes related to Pearson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.9SLC25A38, ALAS2
2tRNA processingGO:0080339.8TRMU, PUS1
3erythrocyte differentiationGO:0302189.6ALAS2, SLC25A38
4tricarboxylic acid cycleGO:0060999.3SUCLG1, DLD
5small molecule metabolic processGO:0442818.1ALAS2, SUCLG1, SLC19A2, ABCB7, DLD, DGUOK

Products for genes affiliated with Pearson Syndrome

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Sources for Pearson Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet