MCID: PRS127
MIFTS: 51

Pearson Marrow-Pancreas Syndrome

Categories: Blood diseases, Endocrine diseases, Gastrointestinal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Pearson Marrow-Pancreas Syndrome

MalaCards integrated aliases for Pearson Marrow-Pancreas Syndrome:

Name: Pearson Marrow-Pancreas Syndrome 57 40 12 20 43
Pearson Syndrome 40 12 20 43 58 29 6 15
Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction 57
Pearson's Marrow/pancreas Syndrome 20
Pearson's Marrow-Pancreas Syndrome 70
Pearson's Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
pearson syndrome
Inheritance: Mitochondrial inheritance,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
mitochondrial

Miscellaneous:
frequently death in infancy


HPO:

31
pearson marrow-pancreas syndrome:
Inheritance mitochondrial inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases
Rare immunological diseases


Summaries for Pearson Marrow-Pancreas Syndrome

MedlinePlus Genetics : 43 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.Most affected individuals have a shortage of red blood cells (anemia), which can cause pale skin (pallor), weakness, and fatigue. Some of these individuals also have low numbers of white blood cells (neutropenia) and platelets (thrombocytopenia). Neutropenia can lead to frequent infections; thrombocytopenia sometimes causes easy bruising and bleeding. When visualized under the microscope, bone marrow cells from affected individuals may appear abnormal. Often, early blood cells (hematopoietic precursors) have multiple fluid-filled pockets called vacuoles. In addition, red blood cells in the bone marrow can have an abnormal buildup of iron that appears as a ring of blue staining in the cell after treatment with certain dyes. These abnormal cells are called ring sideroblasts.In people with Pearson marrow-pancreas syndrome, the pancreas does not work as well as usual. The pancreas produces and releases enzymes that aid in the digestion of fats and proteins. Reduced function of this organ can lead to high levels of fats in the liver (liver steatosis). The pancreas also releases insulin, which helps maintain correct blood sugar levels. A small number of individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition characterized by abnormally high blood sugar levels that can be caused by a shortage of insulin. In addition, affected individuals may have scarring (fibrosis) in the pancreas.People with Pearson marrow-pancreas syndrome have a reduced ability to absorb nutrients from the diet (malabsorption), and most affected infants have an inability to grow and gain weight at the expected rate (failure to thrive). Another common occurrence in people with this condition is buildup in the body of a chemical called lactic acid (lactic acidosis), which can be life-threatening. In addition, liver and kidney problems can develop in people with this condition.About half of children with this severe disorder die in infancy or early childhood due to severe lactic acidosis or liver failure. Many of those who survive develop signs and symptoms later in life of a related disorder called Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes and other problems.

MalaCards based summary : Pearson Marrow-Pancreas Syndrome, also known as pearson syndrome, is related to sideroblastic anemia and dysphagia. An important gene associated with Pearson Marrow-Pancreas Syndrome is MT-CO2 (Mitochondrially Encoded Cytochrome C Oxidase II), and among its related pathways/superpathways are Prion disease and Cardiac muscle contraction. The drugs Tocopherol and Vitamin E have been mentioned in the context of this disorder. Affiliated tissues include Pancreas, bone marrow and bone, and related phenotypes are neutropenia and reticulocytosis

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.

GARD : 20 Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow ( hematopoietic stem cells ) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells ( anemia ), white blood cells ( neutropenia ), or platelets ( thrombocytopenia ) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain. Pearson syndrome is caused by a change ( mutation ) in the mitochondrial DNA. These mutations can make it hard for the cells of the body to make energy. Most cases of Pearson syndrome happen for the first time in a family which means it is not passed down from either parent ( de novo mutation). Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test. Genetic testing can be completed to confirm the diagnosis. Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy, and treatment of infections. Sadly, many children with Pearson syndrome die during infancy. Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome.

Wikipedia : 73 Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas... more...

More information from OMIM: 557000

Related Diseases for Pearson Marrow-Pancreas Syndrome

Diseases related to Pearson Marrow-Pancreas Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 sideroblastic anemia 30.5 YARS2 SLC25A38 PUS1 MT-ATP6 GLRX5 ALAS2
2 dysphagia 30.1 TWNK POLG
3 mitochondrial metabolism disease 28.8 TWNK RRM2B POLG MT-ND6 MT-ND4 MT-ATP6
4 retinitis pigmentosa 28.6 RRM2B POLG MT-TL1 MT-ND6 MT-ND4 MT-CYB
5 chronic progressive external ophthalmoplegia 28.4 TWNK RRM2B POLG MT-TL1 MT-ND6 MT-ND4
6 mitochondrial disorders 28.3 YARS2 TWNK RRM2B PUS1 POLG MT-TL1
7 lactic acidosis 27.7 YARS2 TRMU RRM2B PUS1 POLG MT-TL1
8 mitochondrial encephalomyopathy 27.7 TWNK TRMU POLG MT-TL1 MT-ND6 MT-ND4
9 myopathy 27.7 YARS2 TWNK TRMU RRM2B PUS1 POLG
10 kearns-sayre syndrome 27.5 TWNK TRMU RRM2B PUS1 POLG MT-TL1
11 leigh syndrome 27.1 TWNK TRMU RRM2B PUS1 POLG MT-TL1
12 mitochondrial myopathy 27.0 YARS2 TWNK TRMU RRM2B PUS1 POLG
13 polg-related disorders 10.3 TWNK POLG
14 myotonic cataract 10.3 TWNK POLG
15 ataxia neuropathy spectrum 10.3 TWNK POLG
16 toxic optic neuropathy 10.3 MT-ND6 MT-ND4
17 optic atrophy 4 10.3 MT-ND6 MT-ND4
18 optic atrophy 7 with or without auditory neuropathy 10.3 MT-ND6 MT-ND4
19 myiasis 10.3 MT-CYB MT-CO2
20 mitochondrial dna deletion syndromes 10.3
21 sparganosis 10.3 MT-ND4 MT-CYB
22 mitochondrial complex iii deficiency, nuclear type 2 10.3 TWNK POLG
23 pancytopenia 10.3
24 pediculus humanus corporis infestation 10.3 MT-ND4 MT-CYB
25 myopathy, lactic acidosis, and sideroblastic anemia 3 10.3 YARS2 PUS1 MT-ATP6
26 leber optic atrophy and dystonia 10.2 MT-ND6 MT-ND4
27 anemia, sideroblastic, and spinocerebellar ataxia 10.2 SLC25A38 GLRX5 ALAS2
28 metabolic acidosis 10.2
29 cortical blindness 10.2 POLG MT-ND6 MT-ND4
30 hypochromic microcytic anemia 10.2 SLC25A38 GLRX5 ALAS2
31 protoporphyria, erythropoietic, 1 10.2 SLC25A38 GLRX5 ALAS2
32 dicrocoeliasis 10.2 MT-CYB MT-ATP6
33 optic atrophy 5 10.2 YARS2 MT-ND6 MT-ND4
34 parasitic ectoparasitic infectious disease 10.2 MT-ND4 MT-CYB MT-CO2
35 camptocormism 10.2 RRM2B POLG
36 mixed malaria 10.2 MT-CYB MT-CO3
37 thelaziasis 10.2 MT-ND6 MT-CYB MT-ATP6
38 mitochondrial dna depletion syndrome 11 10.2 MPV17 MGME1
39 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.2 YARS2 POLG
40 myopathy, lactic acidosis, and sideroblastic anemia 2 10.2 YARS2 SLC25A38 PUS1 MT-ATP6
41 non-alcoholic fatty liver disease 10.2
42 retinal degeneration 10.2
43 macrocytic anemia 10.2
44 mitochondrial dna depletion syndrome 5 10.2 POLG MPV17 DGUOK
45 anemia, sideroblastic, 1 10.1 SLC25A38 PUS1 GLRX5 ALAS2
46 mitochondrial dna depletion syndrome 1 10.1 POLG MPV17 MGME1
47 isolated complex iii deficiency 10.1 MT-CYB BCS1L
48 motor peripheral neuropathy 10.1 POLG MPV17 DGUOK
49 baylisascariasis 10.1 MT-ND4 MT-CYB MT-CO2 MT-ATP6
50 mitochondrial neurogastrointestinal encephalomyopathy 10.1 RRM2B POLG

Graphical network of the top 20 diseases related to Pearson Marrow-Pancreas Syndrome:



Diseases related to Pearson Marrow-Pancreas Syndrome

Symptoms & Phenotypes for Pearson Marrow-Pancreas Syndrome

Human phenotypes related to Pearson Marrow-Pancreas Syndrome:

58 31 (show top 50) (show all 79)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
2 reticulocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001923
3 bone marrow hypocellularity 58 31 hallmark (90%) Very frequent (99-80%) HP:0005528
4 hyperalaninemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003348
5 lacticaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003648
6 severe infection 58 31 hallmark (90%) Very frequent (99-80%) HP:0032169
7 elevated lactate:pyruvate ratio 58 31 hallmark (90%) Very frequent (99-80%) HP:0032653
8 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
9 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
10 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
11 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
12 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
13 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
14 exocrine pancreatic insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0001738
15 increased serum lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002151
16 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
17 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
18 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
19 corneal stromal edema 58 31 frequent (33%) Frequent (79-30%) HP:0012040
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
22 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
23 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
24 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
25 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
26 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
27 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
28 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
29 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
30 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
31 hypophosphatemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002148
32 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
33 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
34 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
35 elevated hepatic transaminase 58 31 occasional (7.5%) Occasional (29-5%) HP:0002910
36 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
37 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
38 chronic diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002028
39 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
40 steatorrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002570
41 pancreatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100732
42 lactic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003128
43 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
44 pigmentary retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000580
45 pancytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001876
46 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936
47 glycosuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003076
48 hypomagnesemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002917
49 cardiac conduction abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0031546
50 decreased serum bicarbonate concentration 58 31 occasional (7.5%) Occasional (29-5%) HP:0032066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Abdomen Pancreas:
pancreatic fibrosis
exocrine pancreatic dysfunction

Laboratory Abnormalities:
3-methylglutaconic aciduria
complex organic aciduria
mitochondrial deletions
increased ketone body or lactate/pyruvate plasma ratios

Hematology:
refractory sideroblastic anemia
vacuolization of marrow precursors

Growth Weight:
low birth weight

Abdomen Gastrointestinal:
malabsorption

Metabolic Features:
lactic acidosis
metabolic acidosis

Genitourinary Kidneys:
renal fanconi syndrome

Endocrine Features:
insulin-dependent diabetes mellitus

Abdomen Spleen:
splenic atrophy

Clinical features from OMIM®:

557000 (Updated 20-May-2021)

Drugs & Therapeutics for Pearson Marrow-Pancreas Syndrome

Drugs for Pearson Marrow-Pancreas Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 2 1406-66-2
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
3 Tocotrienol Investigational Phase 2 6829-55-6
4 Tocotrienols Phase 2
5 Tocopherols Phase 2
6 Tocotrienol, alpha Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome Enrolling by invitation NCT03384420 Phase 1, Phase 2
2 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
3 Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC) Completed NCT02327364

Search NIH Clinical Center for Pearson Marrow-Pancreas Syndrome

Genetic Tests for Pearson Marrow-Pancreas Syndrome

Genetic tests related to Pearson Marrow-Pancreas Syndrome:

# Genetic test Affiliating Genes
1 Pearson Syndrome 29

Anatomical Context for Pearson Marrow-Pancreas Syndrome

MalaCards organs/tissues related to Pearson Marrow-Pancreas Syndrome:

40
Pancreas, Bone Marrow, Bone, Liver, Spleen, Endothelial, Heart
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Pearson Marrow-Pancreas Syndrome:
# Tissue Anatomical CompartmentCell Relevance
1 Pancreas Pancreatic Acini Acinar Cells Affected by disease

Publications for Pearson Marrow-Pancreas Syndrome

Articles related to Pearson Marrow-Pancreas Syndrome:

(show top 50) (show all 151)
# Title Authors PMID Year
1
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA. 57 61
14970745 2004
2
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. 57 61
12152148 2002
3
Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. 61 57
12116272 2002
4
Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome. 57 61
9467460 1998
5
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. 61 57
7680315 1993
6
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. 57 61
1447663 1992
7
Mitochondrial DNA deletion in an 8-year-old boy with Pearson syndrome. 61 57
1405465 1992
8
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. 61 57
1712754 1991
9
Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. 57 61
1985462 1991
10
Redefining phenotypes associated with mitochondrial DNA single deletion. 61 20
25808502 2015
11
Biochemical abnormalities in Pearson syndrome. 61 20
25691415 2015
12
Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother. 57
7874110 1994
13
Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. 57
1956715 1991
14
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. 57
2243133 1990
15
Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. 57
2395603 1990
16
New clinical aspects of Pearson's syndrome. Report of three cases. 57
2628242 1989
17
Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. 57
2564980 1989
18
Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. 57
7195932 1981
19
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. 57
501502 1979
20
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans. 61
33671400 2021
21
A useful method to diagnose Pearson syndrome mimicking Diamond-Blackfan anemia. 61
33586850 2021
22
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - Correspondence. 61
32767196 2021
23
Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome. 61
33200495 2021
24
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome. 61
33434818 2021
25
Pediatric Micra leadless pacemaker implantation via internal jugular and femoral vein: a single center, US experience. 61
33463371 2021
26
Identification of a novel large deletion of the mitochondrial DNA in an infant with Pearson syndrome: a case report. 61
33633954 2021
27
Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism. 61
32537709 2020
28
Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia. 61
33030289 2020
29
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions. 61
33105723 2020
30
Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant. 61
32199059 2020
31
Eltrombopag Therapy in Children With Rare Disorders Associated With Thrombocytopenia. 61
31205222 2020
32
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature. 61
31825167 2020
33
Pearson marrow-pancreas syndrome with cardiac conduction abnormality necessitating prophylactic pacemaker implantation. 61
31475425 2020
34
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. 61
31358953 2019
35
Delayed Onset of Retinopathy of Prematurity Associated With Mitochondrial Dysfunction and Pearson Syndrome. 61
31622479 2019
36
[Mitochondrial DNA deletion syndrome: a case report and literature review]. 61
31446694 2019
37
Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants. 61
30845838 2019
38
Endothelial dysfunction in a child with Pearson marrow-pancreas syndrome managed with Descemet stripping automated endothelial keratoplasty using a suture pull-through technique. 61
32076389 2019
39
Sideroblastic anemia associated with multisystem mitochondrial disorders. 61
30588737 2019
40
Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis. 61
31969746 2019
41
Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome. 61
30061775 2018
42
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders. 61
29534959 2018
43
Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. 61
29286581 2018
44
A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome. 61
29736106 2018
45
Endocrine Disorders in Primary Mitochondrial Disease. 61
29594260 2018
46
Pearson syndrome. 61
29337599 2018
47
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing. 61
29739102 2018
48
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. 61
29445937 2018
49
Renal manifestations of primary mitochondrial disorders. 61
28515908 2017
50
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. 61
28495927 2017

Variations for Pearson Marrow-Pancreas Syndrome

ClinVar genetic disease variations for Pearson Marrow-Pancreas Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 12 genes NC_012920.1:m.8480_13440del Deletion Pathogenic 638146 GRCh37: MT:8480-13440
GRCh38: MT:8480-13440
2 overlap with 13 genes NC_012920.1:m.8350_13450del Deletion Pathogenic 638147 GRCh37: MT:8350-13450
GRCh38: MT:8350-13450
3 ACADVL NM_000018.4(ACADVL):c.325G>A (p.Val109Met) SNV Uncertain significance 523060 rs754207297 GRCh37: 17:7124132-7124132
GRCh38: 17:7220813-7220813

Expression for Pearson Marrow-Pancreas Syndrome

Search GEO for disease gene expression data for Pearson Marrow-Pancreas Syndrome.

Pathways for Pearson Marrow-Pancreas Syndrome

Pathways related to Pearson Marrow-Pancreas Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 MT-ND6 MT-ND4 MT-CYB MT-CO3 MT-CO2 MT-ATP6
2 11.27 MT-CYB MT-CO3 MT-CO2
3 11.06 RRM2B MT-CO3 MT-CO2
4 10.54 RRM2B POLG

GO Terms for Pearson Marrow-Pancreas Syndrome

Cellular components related to Pearson Marrow-Pancreas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.73 YARS2 TWNK PUS1 GLRX5 DGUOK ALAS2
2 mitochondrial inner membrane GO:0005743 9.65 SLC25A38 MT-ND6 MT-ND4 MT-CYB MT-CO3 MT-CO2
3 mitochondrion GO:0005739 9.6 YARS2 TWNK TRMU SLC25A38 RRM2B PUS1
4 respiratory chain GO:0070469 9.46 MT-ND6 MT-ND4 MT-CYB MT-CO2
5 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CYB BCS1L
6 respiratory chain complex IV GO:0045277 9.32 MT-CO3 MT-CO2

Biological processes related to Pearson Marrow-Pancreas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 RRM2B MT-ND6 MT-ND4 MT-CYB MT-CO2 GLRX5
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.54 MT-ND6 MT-ND4 BCS1L
3 heme biosynthetic process GO:0006783 9.48 SLC25A38 ALAS2
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.46 MT-CO3 MT-CO2
5 respiratory electron transport chain GO:0022904 9.43 MT-CYB MT-CO3
6 mitochondrial genome maintenance GO:0000002 9.4 MPV17 MGME1
7 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-CO2
8 electron transport coupled proton transport GO:0015990 9.16 MT-ND4 MT-CYB
9 response to hyperoxia GO:0055093 9.13 POLG MT-CYB MT-ATP6
10 mitochondrial DNA replication GO:0006264 8.92 TWNK RRM2B POLG MGME1

Molecular functions related to Pearson Marrow-Pancreas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.13 MT-CYB MT-CO3 GLRX5
2 tRNA binding GO:0000049 8.8 YARS2 TRMU PUS1

Sources for Pearson Marrow-Pancreas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....