MCID: PRS023
MIFTS: 51

Pearson Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Endocrine diseases, Blood diseases, Immune diseases categories

Summaries for Pearson Syndrome

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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.Ā 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.Ā Ā  last updated: 11/21/2011

MalaCards: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to lactic acidosis and pancytopenia, and has symptoms including anomaly of pancreatic hormones, intrauterine growth retardation and organic acid metabolism anomalies. An important gene associated with Pearson Syndrome is GLRX5 (glutaredoxin 5). The compounds Succinyl-CoA and Coenzyme A have been mentioned in the context of this disorder. Affiliated tissues include pancreas, skin and liver.

Disease Ontology:9 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

Genetics Home Reference:22 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:66 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

Description from OMIM:48 557000

Aliases & Classifications for Pearson Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 50Orphanet, 48OMIM, 63UMLS, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
pearson syndrome:
Inheritance: Mitochondrial inheritance,Sporadic; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

pearson syndrome 9 44 22 11 50 48
pearson marrow-pancreas syndrome 9 44 22
pearson's syndrome 44 21 23
sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction 44
pearson's marrow/pancreas syndrome 44
pearson's marrow-pancreas syndrome 63


External Ids:

Disease Ontology9 DOID:0060067
OMIM48 557000
UMLS via Orphanet64 C0342773
ICD10 via Orphanet27 D64.0
SNOMED-CT via Orphanet60 237985009

Related Diseases for Pearson Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Pearson Syndrome:



Diseases related to pearson syndrome

Symptoms for Pearson Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

557000

Clinical features from OMIM:

557000

Symptoms:

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

Drugs & Therapeutics for Pearson Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Pearson Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Pearson Syndrome:

id Genetic test Affiliating Genes
1 Pearson Syndrome21
2 Pearson's Syndrome23

Anatomical Context for Pearson Syndrome

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Pearson Syndrome:

34
Pancreas, Skin, Liver, Eye, Bone, 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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53PubMed
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Articles related to Pearson Syndrome:

(show all 42)
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
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
2007
13
The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
2007
14
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
2005
15
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
2005
16
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
2004
17
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
2003
18
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
2002
19
Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
2001
20
Early onset of complete heart block in Pearson syndrome. (11117437)
2000
21
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
22
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
1999
23
Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
1999
24
Fatal acidosis in a neonate with Pearson syndrome. (10770098)
1999
25
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
1998
26
Schwachman or Pearson syndrome. (9495386)
1998
27
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
1998
28
The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
1997
29
Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
1997
30
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
1996
31
A case of Pearson syndrome associated with multiple renal cysts. (8897573)
1996
32
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
1995
33
A novel mtDNA deletion in an infant with Pearson syndrome. (7837757)
1994
34
Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
1994
35
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
36
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
1993
37
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
38
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
1992
39
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
40
Organic aciduria in Pearson syndrome. (1915526)
1991
41
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
1991
42
Juvenile Pearson syndrome. (2398232)
1990

Variations for Pearson Syndrome

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Expression for genes affiliated with Pearson Syndrome

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Pearson Syndrome

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25HMDB, 12DrugBank, 46Novoseek
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Compounds related to Pearson Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Succinyl-CoA259.6SUCLG1, ALAS2
2Coenzyme A25 1210.6ALAS2, SUCLG1
3protoporphyrin ix46 25 1211.5ABCB7, ALAS2
4iron-sulfur469.4ABCB7, ALAS2
5trna468.9PUS1, GFM1

GO Terms for genes affiliated with Pearson Syndrome

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17Gene Ontology
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Cellular components related to Pearson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057438.6SLC25A38, ALAS2, SUCLG1, ABCB7
2mitochondrionGO:0057396.6TRMU, ABCB7, PUS1, GFM1, SUCLG1, ALAS2

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

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.7SLC25A38, ALAS2
2cellular iron ion homeostasisGO:0068799.5ALAS2, ABCB7
3erythrocyte differentiationGO:0302189.5SLC25A38, ALAS2

Products for genes affiliated with Pearson Syndrome

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Sources for Pearson Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet