MTDPS1
MCID: MTC061
MIFTS: 54

Mitochondrial Dna Depletion Syndrome 1 (MTDPS1)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 58 12 30 13 6
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 12 25 54 26 74
Mitochondrial Neurogastrointestinal Encephalopathy Disease 12 25 26
Myoneurogastrointestinal Encephalopathy Syndrome 58 54 26
Thymidine Phosphorylase Deficiency 25 54 26
Mngie Syndrome 25 54 26
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 54 26
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related 58 12
Oculogastrointestinal Muscular Dystrophy 54 26
Polip Syndrome 58 76
Mtdps1 58 76
Mngie 54 56
Ogimd 54 26
Polip 54 26
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 26
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction 58
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 76
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 76
Mitochondrial Neurogastrointestinal Encephalomyopathy 76
Mitochondrial Neurogastrointestinal Encephalopathy 12
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 76
Mitochondrial Dna Depletion Syndrome, Type 1 41
Myoneurogastrointestinal Encephalomyopathy 76
Thymidine Phosphorylase 13
Mngie, Tymp-Related 58
Mngie Disease 26
Mepop 26

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in second to fifth decade
early death in early adulthood often associated with diverticulitis and intestinal perforation


HPO:

33
mitochondrial dna depletion syndrome 1:
Clinical modifier death in early adulthood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 1

NIH Rare Diseases : 54 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that mainly affects the digestive system and nervous system. Signs and symptoms most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently and result in early satiety, nausea, dysphagia, gastroesophageal reflux, vomiting after eating (postprandial emesis), episodic abdominal pain and/or distention, and diarrhea . Affected people may also have cachexia, dropped eyelids or weakness of other muscles of the eyes, peripheral neuropathy (manifesting as tingling, numbness, and pain (paresthesias) symmetric weakness, that mainly affect the lower extremities) and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. MNGIE is caused by variations (mutations) in the TYMP gene, important for allowing adequate levels of thymidine in the mitochondria.  Inheritance is autosomal recessive. Diagnosis is confirmed by detecting the TYMP gene variations or the increased levels of thymidine and deoxyuridine in blood. Treatment depends on the problems that present, and may include management of the  swallowing difficulties and airway protection; specific medication for neuropathic symptoms and for  nausea and vomiting. Other treatment may include nutritional support,  antibiotics for intestinal bacterial overgrowth, special education and and physical therapy. It is recommended to avoid medication that interfere with mitochondrial function, such as valproate, phenytoin, chloramphenicol, linezolid, aminoglycosides, and tetracycline.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 1, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial dna depletion syndrome 4a, and has symptoms including vomiting, abdominal pain and chronic constipation. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and TP53 Regulates Metabolic Genes. The drugs Celecoxib and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and lung, and related phenotypes are ptosis and constipation

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13.

Genetics Home Reference : 26 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.

OMIM : 58 Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations (Taanman et al., 2009). (603041)

UniProtKB/Swiss-Prot : 76 Mitochondrial DNA depletion syndrome 1, MNGIE type: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.

GeneReviews: NBK1179

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalomyopathy 31.9 MT-TK POLG SCO2 TYMP
2 mitochondrial dna depletion syndrome 4a 31.8 POLG TYMP
3 mitochondrial dna depletion syndrome 4b 31.8 MIR6766 POLG
4 chronic progressive external ophthalmoplegia 30.6 POLG TYMP
5 mitochondrial myopathy 28.9 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 POLG
6 visceral myopathy, familial, with external ophthalmoplegia 11.4
7 mitochondrial dna depletion syndrome 9 11.0
8 mitochondrial dna depletion syndrome 3 11.0
9 mitochondrial dna depletion syndrome 6 11.0
10 mitochondrial dna depletion syndrome 7 11.0
11 mitochondrial dna depletion syndrome 2 11.0
12 mitochondrial dna depletion syndrome 5 11.0
13 mitochondrial dna depletion syndrome 8a 11.0
14 mitochondrial dna depletion syndrome 11 11.0
15 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.0
16 mitochondrial dna depletion syndrome 13 11.0
17 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.0
18 colorectal cancer 10.7
19 breast cancer 10.7
20 gastric cancer 10.7
21 squamous cell carcinoma 10.6
22 ovarian cancer 10.5
23 lung cancer 10.5
24 adenocarcinoma 10.5
25 encephalopathy 10.5
26 small cell cancer of the lung 10.5
27 hepatocellular carcinoma 10.5
28 renal cell carcinoma, nonpapillary 10.5
29 bladder cancer 10.4
30 endometrial cancer 10.4
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
32 pancreatic cancer 10.3
33 cervical cancer 10.3
34 myopia 6 10.3 NCAPH2 SCO2
35 prostate cancer 10.3
36 prostate cancer, hereditary, 8 10.3
37 prostate cancer, hereditary, 6 10.3
38 myoclonic epilepsy myopathy sensory ataxia 10.2 MIR6766 POLG
39 autosomal recessive disease 10.2
40 polyradiculoneuropathy 10.2
41 chronic inflammatory demyelinating polyradiculoneuropathy 10.2
42 diverticulitis 10.2
43 eating disorder 10.2
44 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.2 MIR6766 POLG
45 suppressor of tumorigenicity 3 10.2
46 cholangiocarcinoma 10.2
47 oral squamous cell carcinoma 10.2
48 sarcoma 10.2
49 gastric adenocarcinoma 10.2
50 glioblastoma 10.2

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 1:



Diseases related to Mitochondrial Dna Depletion Syndrome 1

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 1

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 33 HP:0000508
2 constipation 33 HP:0002019
3 malabsorption 33 HP:0002024
4 sensorineural hearing impairment 33 HP:0000407
5 vomiting 33 HP:0002013
6 abdominal pain 33 HP:0002027
7 gastroparesis 33 HP:0002578
8 lactic acidosis 33 HP:0003128
9 ragged-red muscle fibers 33 HP:0003200
10 mitochondrial myopathy 33 HP:0003737
11 cachexia 33 HP:0004326
12 progressive external ophthalmoplegia 33 HP:0000590
13 slender build 33 HP:0001533
14 areflexia 33 HP:0001284
15 distal muscle weakness 33 HP:0002460
16 hypointensity of cerebral white matter on mri 33 HP:0007103
17 distal amyotrophy 33 HP:0003693
18 malnutrition 33 HP:0004395
19 distal sensory impairment 33 HP:0002936
20 intermittent diarrhea 33 HP:0002254
21 cytochrome c oxidase-negative muscle fibers 33 HP:0003688
22 leukoencephalopathy 33 HP:0002352
23 gastrointestinal dysmotility 33 HP:0002579
24 intestinal perforation 33 HP:0031368
25 subsarcolemmal accumulations of abnormally shaped mitochondria 33 HP:0003548
26 multiple mitochondrial dna deletions 33 HP:0003689

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia
loss of distal sensation
sensorimotor axonal/demyelinating neuropathy

Muscle Soft Tissue:
mitochondrial myopathy
ragged red fibers seen on muscle biopsy
distal limb muscle weakness (less common)
multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy
distal limb muscle atrophy (less common)
more
Head And Neck Ears:
hearing loss, sensorineural

Growth Weight:
weight loss, progressive

Abdomen Gastrointestinal:
malabsorption
vomiting
abdominal pain
gastroparesis
intermittent diarrhea
more
Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
leukoencephalopathy
hypodensity of cerebral white matter seen on mri

Growth Other:
thin body habitus
marked cachexia

Laboratory Abnormalities:
decreased activity of thymidine phosphorylase
increased serum thymidine
increased serum deoxyuridine

Clinical features from OMIM:

603041

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


vomiting, abdominal pain, chronic constipation, intermittent diarrhea

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

Drugs for Mitochondrial Dna Depletion Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
2
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
3
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
rituximab Approved Phase 2 174722-31-7 10201696
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
8
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
9
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
11 Tocotrienol Investigational Phase 2 6829-55-6
12 Immunosuppressive Agents Phase 2
13 Antineoplastic Agents, Alkylating Phase 2
14 Immunologic Factors Phase 2
15 Tocopherols Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Thioctic Acid Phase 2
18 Antimetabolites Phase 2
19 Vitamins Phase 2
20 Tocotrienols Phase 2
21 Alkylating Agents Phase 2
22 Antilymphocyte Serum Phase 2
23 N-monoacetylcystine Phase 2
24 Alpha-lipoic Acid Phase 2
25 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
2 Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy Not yet recruiting NCT03866954 Phase 2
3 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
4 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
5 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Recruiting NCT01694953
6 Tissue Sample Study for Mitochondrial Disorders Enrolling by invitation NCT01803906
7 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type) 30 POLG TYMP

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

42
Eye, Brain, Lung, Liver, Prostate, Bone, Thyroid

Publications for Mitochondrial Dna Depletion Syndrome 1

Articles related to Mitochondrial Dna Depletion Syndrome 1:

# Title Authors Year
1
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies. ( 23453626 )
2013
2
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. ( 16178026 )
2005
3
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. ( 14757860 )
2004
4
Phenotypic variability in a Spanish family with MNGIE. ( 12177387 )
2002
5
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. ( 10852545 )
2000
6
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. ( 9924029 )
1999
7
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. ( 9380435 )
1997

Variations for Mitochondrial Dna Depletion Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 TYMP p.Gly145Arg VAR_007643 rs121913037
2 TYMP p.Gly153Ser VAR_007644 rs121913038
3 TYMP p.Lys222Arg VAR_007645 rs149977726
4 TYMP p.Glu289Ala VAR_007646 rs121913036
5 TYMP p.Arg44Gln VAR_016777 rs28931613

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

6 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.2069C> T (p.Thr690Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 89324108: 89324108
2 POLG NM_002693.2(POLG): c.2069C> T (p.Thr690Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 89867339: 89867339
3 POLG NM_002693.2(POLG): c.3317T> C (p.Val1106Ala) single nucleotide variant Uncertain significance rs1354582663 GRCh37 Chromosome 15, 89861937: 89861937
4 POLG NM_002693.2(POLG): c.3317T> C (p.Val1106Ala) single nucleotide variant Uncertain significance rs1354582663 GRCh38 Chromosome 15, 89318706: 89318706
5 POLG NM_002693.2(POLG): c.729C> A (p.Asp243Glu) single nucleotide variant Uncertain significance rs757917194 GRCh38 Chromosome 15, 89330207: 89330207
6 POLG NM_002693.2(POLG): c.729C> A (p.Asp243Glu) single nucleotide variant Uncertain significance rs757917194 GRCh37 Chromosome 15, 89873438: 89873438
7 POLG NM_002693.2(POLG): c.2027C> T (p.Ala676Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376306906 GRCh38 Chromosome 15, 89324150: 89324150
8 POLG NM_002693.2(POLG): c.2027C> T (p.Ala676Val) single nucleotide variant Conflicting interpretations of pathogenicity rs376306906 GRCh37 Chromosome 15, 89867381: 89867381
9 POLG NM_002693.2(POLG): c.2468G> A (p.Arg823His) single nucleotide variant Uncertain significance rs751172552 GRCh37 Chromosome 15, 89865205: 89865205
10 POLG NM_002693.2(POLG): c.2468G> A (p.Arg823His) single nucleotide variant Uncertain significance rs751172552 GRCh38 Chromosome 15, 89321974: 89321974
11 TYMP NM_001113755.2(TYMP): c.628A> C (p.Ser210Arg) single nucleotide variant Pathogenic rs761665644 GRCh37 Chromosome 22, 50966035: 50966035
12 TYMP NM_001113755.2(TYMP): c.628A> C (p.Ser210Arg) single nucleotide variant Pathogenic rs761665644 GRCh38 Chromosome 22, 50527606: 50527606
13 TYMP NM_001113755.2(TYMP): c.763_765delCTG (p.Leu255del) deletion Pathogenic rs1556488264 GRCh37 Chromosome 22, 50965594: 50965596
14 TYMP NM_001113755.2(TYMP): c.763_765delCTG (p.Leu255del) deletion Pathogenic rs1556488264 GRCh38 Chromosome 22, 50527165: 50527167
15 TYMP NM_001953.4(TYMP): c.-92C> T single nucleotide variant Uncertain significance rs886057636 GRCh38 Chromosome 22, 50529985: 50529985
16 TYMP NM_001953.4(TYMP): c.-92C> T single nucleotide variant Uncertain significance rs886057636 GRCh37 Chromosome 22, 50968414: 50968414
17 TYMP NM_001953.4(TYMP): c.516+10G> A single nucleotide variant Uncertain significance rs552829713 GRCh37 Chromosome 22, 50966931: 50966931
18 TYMP NM_001953.4(TYMP): c.516+10G> A single nucleotide variant Uncertain significance rs552829713 GRCh38 Chromosome 22, 50528502: 50528502
19 TYMP NM_001953.4(TYMP): c.756A> C (p.Ala252=) single nucleotide variant Uncertain significance rs886057635 GRCh37 Chromosome 22, 50965603: 50965603
20 TYMP NM_001953.4(TYMP): c.756A> C (p.Ala252=) single nucleotide variant Uncertain significance rs886057635 GRCh38 Chromosome 22, 50527174: 50527174
21 TYMP NM_001953.4(TYMP): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs781064742 GRCh37 Chromosome 22, 50965074: 50965074
22 TYMP NM_001953.4(TYMP): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs781064742 GRCh38 Chromosome 22, 50526645: 50526645
23 TYMP NM_001953.4(TYMP): c.516+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369574115 GRCh38 Chromosome 22, 50528508: 50528508
24 TYMP NM_001953.4(TYMP): c.516+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369574115 GRCh37 Chromosome 22, 50966937: 50966937
25 TYMP NM_001257989.1(TYMP): c.1010_1019delGCTCGGCCCTinsAA (p.Gly337Glufs) indel Pathogenic rs1064792892 GRCh38 Chromosome 22, 50526386: 50526395
26 TYMP NM_001257989.1(TYMP): c.1010_1019delGCTCGGCCCTinsAA (p.Gly337Glufs) indel Pathogenic rs1064792892 GRCh37 Chromosome 22, 50964815: 50964824
27 TYMP NM_001953.4(TYMP): c.1395_1400delGCCATT (p.Pro466_Phe467del) deletion Pathogenic rs1064792891 GRCh37 Chromosome 22, 50964248: 50964253
28 TYMP NM_001953.4(TYMP): c.1395_1400delGCCATT (p.Pro466_Phe467del) deletion Pathogenic rs1064792891 GRCh38 Chromosome 22, 50525819: 50525824
29 TYMP NM_001257988.1(TYMP): c.1327_1346del (p.Asp443Profs) deletion Pathogenic rs1064792890 GRCh38 Chromosome 22, 50525873: 50525892
30 TYMP NM_001257988.1(TYMP): c.1327_1346del (p.Asp443Profs) deletion Pathogenic rs1064792890 GRCh37 Chromosome 22, 50964302: 50964321
31 TYMP NM_001953.4(TYMP): c.1311delG (p.Trp437Cysfs) deletion Pathogenic rs1064792889 GRCh38 Chromosome 22, 50525908: 50525908
32 TYMP NM_001953.4(TYMP): c.1311delG (p.Trp437Cysfs) deletion Pathogenic rs1064792889 GRCh37 Chromosome 22, 50964337: 50964337
33 TYMP NM_001953.4(TYMP): c.1088delG (p.Gly363Glufs) deletion Pathogenic rs1060499535 GRCh37 Chromosome 22, 50964746: 50964746
34 TYMP NM_001953.4(TYMP): c.1088delG (p.Gly363Glufs) deletion Pathogenic rs1060499535 GRCh38 Chromosome 22, 50526317: 50526317
35 TYMP NM_001953.4(TYMP): c.784delC (p.Leu262Terfs) deletion Pathogenic rs1064792888 GRCh38 Chromosome 22, 50526720: 50526720
36 TYMP NM_001953.4(TYMP): c.784delC (p.Leu262Terfs) deletion Pathogenic rs1064792888 GRCh37 Chromosome 22, 50965149: 50965149
37 TYMP NM_001953.4(TYMP): c.720delC (p.Val241Serfs) deletion Pathogenic rs1064792887 GRCh37 Chromosome 22, 50965639: 50965639
38 TYMP NM_001953.4(TYMP): c.720delC (p.Val241Serfs) deletion Pathogenic rs1064792887 GRCh38 Chromosome 22, 50527210: 50527210
39 TYMP NM_001953.4(TYMP): c.263_264delCC (p.Thr88Ilefs) deletion Pathogenic rs1064792886 GRCh38 Chromosome 22, 50529289: 50529290
40 TYMP NM_001953.4(TYMP): c.263_264delCC (p.Thr88Ilefs) deletion Pathogenic rs1064792886 GRCh37 Chromosome 22, 50967718: 50967719
41 TYMP c.52_53delCT undetermined variant Pathogenic
42 TYMP NM_001257988.1(TYMP): c.1431dup (p.Leu478Serfs) duplication Pathogenic rs1064792885 GRCh37 Chromosome 22, 50964217: 50964217
43 TYMP NM_001257988.1(TYMP): c.1431dup (p.Leu478Serfs) duplication Pathogenic rs1064792885 GRCh38 Chromosome 22, 50525788: 50525788
44 TYMP NM_001257989.1(TYMP): c.1366dup (p.Gln456Profs) duplication Pathogenic rs1556486029 GRCh38 Chromosome 22, 50525868: 50525868
45 TYMP NM_001257989.1(TYMP): c.1335dup (p.His446Alafs) duplication Pathogenic rs1556486107 GRCh38 Chromosome 22, 50525899: 50525899
46 TYMP NM_001257989.1(TYMP): c.1335dup (p.His446Alafs) duplication Pathogenic rs1556486107 GRCh37 Chromosome 22, 50964328: 50964328
47 TYMP NM_001257989.1(TYMP): c.1226dup (p.Gly410Argfs) duplication Pathogenic rs1556486467 GRCh37 Chromosome 22, 50964519: 50964519
48 TYMP NM_001257989.1(TYMP): c.1226dup (p.Gly410Argfs) duplication Pathogenic rs1556486467 GRCh38 Chromosome 22, 50526090: 50526090
49 TYMP NM_001257989.1(TYMP): c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) duplication Pathogenic rs1064792881 GRCh37 Chromosome 22, 50964823: 50964840
50 TYMP NM_001257989.1(TYMP): c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) duplication Pathogenic rs1064792881 GRCh38 Chromosome 22, 50526394: 50526411

Expression for Mitochondrial Dna Depletion Syndrome 1

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 1.

Pathways for Mitochondrial Dna Depletion Syndrome 1

GO Terms for Mitochondrial Dna Depletion Syndrome 1

Cellular components related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 POLG SCO2
2 respiratory chain GO:0070469 9.37 MT-CO2 MT-ND3
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.32 MT-ATP6 MT-ATP8
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.16 MT-ATP6 MT-ATP8
5 mitochondrial inner membrane GO:0005743 9.1 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 SCO2
6 respiratory chain complex IV GO:0045277 8.96 MT-CO2 MT-CO3

Biological processes related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cristae formation GO:0042407 9.4 MT-ATP6 MT-ATP8
2 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
3 ATP synthesis coupled proton transport GO:0015986 9.32 MT-ATP6 MT-ATP8
4 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.26 MT-ATP6 MT-ATP8
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.16 MT-CO3 MT-CO2
6 response to hyperoxia GO:0055093 8.96 MT-ATP6 POLG
7 respiratory chain complex IV assembly GO:0008535 8.62 SCO2 MT-CO3

Molecular functions related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 MT-CO2 SCO2
2 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
3 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO2 MT-CO3

Sources for Mitochondrial Dna Depletion Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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