MCID: PRS023
MIFTS: 53

Pearson Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Immune diseases categories
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Summaries for Pearson Syndrome

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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 based summary: Pearson Syndrome, also known as pearson marrow-pancreas syndrome, is related to lactic acidosis and pancytopenia, and has symptoms including abnormal pigmentary skin changes/skin pigmentation anomalies, malabsorption/chronic diarrhea/steatorrhea and storage liver disease. 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, bone and bone marrow.

Disease Ontology:8 A mitochondrial metabolism 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:65 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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Sources:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pearson Syndrome, Aliases & Descriptions:

Name: Pearson Syndrome 30 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 62


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:0060067
OMIM46 557000
ICD10 via Orphanet26 D64.0
UMLS via Orphanet63 C0342773

Related Diseases for Pearson Syndrome

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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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Symptoms by clinical synopsis from OMIM:

557000

Clinical features from OMIM:

557000

Symptoms:

48 (show all 14)
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • 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
  • hemoglobinosis/hemoglobinopathy
  • organic acid metabolism anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intrauterine growth retardation

HPO human phenotypes related to Pearson Syndrome:

(show all 22)
id Description Frequency HPO Source Accession
1 abnormality of skin pigmentation hallmark (90%) HP:0001000
2 muscular hypotonia hallmark (90%) HP:0001252
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 exocrine pancreatic insufficiency hallmark (90%) HP:0001738
5 anemia hallmark (90%) HP:0001903
6 malabsorption hallmark (90%) HP:0002024
7 delayed skeletal maturation hallmark (90%) HP:0002750
8 reduced bone mineral density hallmark (90%) HP:0004349
9 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
10 type i diabetes mellitus hallmark (90%) HP:0100651
11 mitochondrial inheritance HP:0001427
12 failure to thrive HP:0001508
13 small for gestational age HP:0001518
14 metabolic acidosis HP:0001942
15 renal fanconi syndrome HP:0001994
16 malabsorption HP:0002024
17 lactic acidosis HP:0003128
18 3-methylglutaric aciduria HP:0003344
19 refractory sideroblastic anemia HP:0004864
20 complex organic aciduria HP:0008336
21 type i diabetes mellitus HP:0100651
22 pancreatic fibrosis HP:0100732

Drugs & Therapeutics for Pearson Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Pearson Syndrome

Genetic Tests for Pearson Syndrome

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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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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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Articles related to Pearson Syndrome:

(show all 44)
idTitleAuthorsYear
1
Pearson syndrome in a Diamond-Blackfan anemia cohort. (25035146)
2014
2
Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. (24633981)
2014
3
Corneal endothelial dysfunction in Pearson syndrome. (21936618)
2013
4
Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency. (22424738)
2012
5
Clinical manifestations and management of four children with Pearson syndrome. (22012855)
2011
6
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. (21741369)
2011
7
Celiac disease in siblings with Pearson syndrome. (20228667)
2010
8
Early neurological impairment and severe anemia in a newborn with Pearson syndrome. (18553104)
2009
9
Pearson syndrome in the neonatal period: two case reports and review of the literature. (19881395)
2009
10
Transient corneal edema and left hemisphere dysfunction in pearson syndrome. (19491648)
2009
11
Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome. (19026771)
2009
12
Cutaneous zygomycosis in an infant with Pearson syndrome. (17914738)
2008
13
Two new cases with Pearson syndrome and review of Hacettepe experience. (19227422)
2008
14
Pearson syndrome in an infant heterozygous for C282Y allele of HFE gene. (17852457)
2007
15
The neurological evolution of Pearson syndrome: case report and literature review. (17434771)
2007
16
Parafoveolar intraretinal crystals in pearson syndrome. (25390989)
2007
17
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate. (16435219)
2005
18
Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms. (16278899)
2005
19
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. (14970745)
2004
20
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. (14663277)
2003
21
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (12152148)
2002
22
Clinical implications of duplicated mtDNA in Pearson syndrome. (11169556)
2001
23
Early onset of complete heart block in Pearson syndrome. (11117437)
2000
24
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
25
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (10030587)
1999
26
Invasive aspergillosis in two patients with Pearson syndrome. (10462353)
1999
27
Fatal acidosis in a neonate with Pearson syndrome. (10770098)
1999
28
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. (9467460)
1998
29
Schwachman or Pearson syndrome. (9495386)
1998
30
Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card. (9630077)
1998
31
The association between haematological manifestation and mtDNA deletions in Pearson syndrome. (9323565)
1997
32
Severe lactic acidosis and neonatal death in Pearson syndrome. (9061566)
1997
33
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion. (8909450)
1996
34
A case of Pearson syndrome associated with multiple renal cysts. (8897573)
1996
35
Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome. (7541513)
1995
36
Deletion of the mitochondrial DNA in a case of de Toni-DebrAc-Fanconi syndrome and Pearson syndrome. (8018492)
1994
37
3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
1993
38
Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. (7609446)
1993
39
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
40
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. (1405465)
1992
41
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
1992
42
Organic aciduria in Pearson syndrome. (1915526)
1991
43
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. (1985462)
1991
44
Juvenile Pearson syndrome. (2398232)
1990

Variations for Pearson Syndrome

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Expression for genes affiliated with Pearson Syndrome

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

idCompoundScoreTop Affiliating Genes
1Succinyl-CoA249.6SUCLG1, ALAS2
2Coenzyme A24 1110.6ALAS2, SUCLG1
3protoporphyrin ix44 24 1111.5ABCB7, ALAS2
4iron-sulfur449.4ABCB7, ALAS2
5trna448.9PUS1, GFM1

GO Terms for genes affiliated with Pearson Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet