MTDPS6
MCID: MTC058
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 6 (MTDPS6) malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 6

About this section

Aliases & Descriptions for Mitochondrial Dna Depletion Syndrome 6:

Name: Mitochondrial Dna Depletion Syndrome 6 52 11 70 12 13
Navajo Neurohepatopathy 54 70 27 68
Navajo Familial Neurogenic Arthropathy 70 68
Navajo Neuropathy 54 70
 
Mitochondrial Dna Depletion 6 Hepatocerebral Type 70
Mtdps6 70
Nnh 70
Nn 70

Characteristics:

Orphanet epidemiological data:

54
navajo neurohepatopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
mitochondrial dna depletion syndrome 6:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, progressive, phenotypic variability

Classifications:



External Ids:

OMIM52 256810
Disease Ontology11 DOID:0080125
Orphanet54 ORPHA255229
UMLS via Orphanet69 C1850406
MeSH39 D017237

Summaries for Mitochondrial Dna Depletion Syndrome 6

About this section
OMIM:52 Mitochondrial DNA depletion syndrome-6 is an autosomal recessive disorder characterized by infantile onset of... (256810) more...

MalaCards based summary: Mitochondrial Dna Depletion Syndrome 6, also known as navajo neurohepatopathy, is related to mpv17-related hepatocerebral mitochondrial dna depletion syndrome and autoinflammation, lipodystrophy, and dermatosis syndrome, and has symptoms including ataxia, ataxia and diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MPV17, Mitochondrial Inner Membrane Protein). Affiliated tissues include liver.

UniProtKB/Swiss-Prot:70 Mitochondrial DNA depletion syndrome 6: A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.

Related Diseases for Mitochondrial Dna Depletion Syndrome 6

About this section

Diseases related to Mitochondrial Dna Depletion Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mpv17-related hepatocerebral mitochondrial dna depletion syndrome11.3
2autoinflammation, lipodystrophy, and dermatosis syndrome10.9

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 6

About this section

Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

 64 (show all 32)
id Description HPO Frequency HPO Source Accession
1 recurrent corneal erosions64 HP:0000495
2 nystagmus64 HP:0000639
3 acral ulceration and osteomyelitis leading to autoamputation of digits64 HP:0001226
4 ataxia64 HP:0001251
5 muscular hypotonia64 HP:0001252
6 global developmental delay64 HP:0001263
7 hyporeflexia64 HP:0001265
8 areflexia64 HP:0001284
9 dystonia64 HP:0001332
10 cirrhosis64 HP:0001394
11 macrovesicular hepatic steatosis64 HP:0001403
12 microvesicular hepatic steatosis64 HP:0001414
13 failure to thrive64 HP:0001508
14 abnormality of the foot64 HP:0001760
15 hypoglycemia64 HP:0001943
16 vomiting64 HP:0002013
17 diarrhea64 HP:0002014
18 hepatomegaly64 HP:0002240
19 distal muscle weakness64 HP:0002460
20 increased susceptibility to fractures64 HP:0002659
21 painless fractures due to injury64 HP:0002661
22 abnormality of the immune system64 HP:0002715
23 elevated hepatic transaminases64 HP:0002910
24 lactic acidosis64 HP:0003128
25 decreased number of peripheral myelinated nerve fibers64 HP:0003380
26 short stature64 HP:0004322
27 osteomyelitis leading to amputation due to slow healing fractures64 HP:0005010
28 acute hepatic failure64 HP:0006554
29 prolonged neonatal jaundice64 HP:0006579
30 reye syndrome-like episodes64 HP:0006582
31 pain insensitivity64 HP:0007021
32 sensorimotor neuropathy64 HP:0007141

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 6:


ataxia, diarrhea, vomiting

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 6

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 6

Genetic Tests for Mitochondrial Dna Depletion Syndrome 6

About this section

Genetic tests related to Mitochondrial Dna Depletion Syndrome 6:

id Genetic test Affiliating Genes
1 Navajo Neurohepatopathy27 24

Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

About this section

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 6:

36
Liver

Publications for Mitochondrial Dna Depletion Syndrome 6

About this section

Variations for Mitochondrial Dna Depletion Syndrome 6

About this section

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

70
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217rs121909721
2MPV17p.Arg50TrpVAR_026218rs121909723
3MPV17p.Asn166LysVAR_026219rs121909722
4MPV17p.Lys88GluVAR_076199rs267607256
5MPV17p.Gly94ArgVAR_076202rs267607257
6MPV17p.Pro98LeuVAR_076203rs267607258
7MPV17p.Ala162AspVAR_076204rs267607259

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1MPV17NM_ 002437.4(MPV17): c.149G> A (p.Arg50Gln)SNVPathogenicrs121909721GRCh37Chr 2, 27535898: 27535898
2MPV17NM_ 002437.4(MPV17): c.498C> A (p.Asn166Lys)SNVPathogenicrs121909722GRCh37Chr 2, 27532813: 27532813
3MPV17NM_ 002437.4(MPV17): c.148C> T (p.Arg50Trp)SNVPathogenicrs121909723GRCh37Chr 2, 27535899: 27535899
4MPV17MPV17, 26-BP DEL, NT116deletionPathogenic
5MPV17NM_ 002437.4(MPV17): c.359G> A (p.Trp120Ter)SNVPathogenicrs121909724GRCh37Chr 2, 27535377: 27535377
6MPV17NM_ 002437.4(MPV17): c.70G> T (p.Gly24Trp)SNVPathogenicrs121909725GRCh37Chr 2, 27545315: 27545315
7MPV17NM_ 002437.4(MPV17): c.462-904_ *601del1575insGCCTGindelPathogenicGRCh37Chr 2, 27532179: 27533753
8MPV17NM_ 002437.4(MPV17): c.106C> T (p.Gln36Ter)SNVPathogenicrs754051090GRCh37Chr 2, 27535941: 27535941
9MPV17NM_ 002437.4(MPV17): c.409-1G> CSNVPathogenicrs886044280GRCh37Chr 2, 27534820: 27534820
10MPV17NM_ 002437.4(MPV17): c.284dupG (p.Phe96Leufs)duplicationPathogenicrs886044454GRCh37Chr 2, 27535452: 27535452
11MPV17NM_ 002437.4(MPV17): c.116_ 141del26 (p.Arg41Profs)deletionPathogenicrs397507438GRCh37Chr 2, 27535906: 27535931
12MPV17NM_ 002437.4(MPV17): c.186+2T> CSNVPathogenicrs147952488GRCh37Chr 2, 27535859: 27535859
13MPV17NM_ 002437.4(MPV17): c.206G> A (p.Trp69Ter)SNVPathogenicrs267607261GRCh37Chr 2, 27535620: 27535620
14MPV17NM_ 002437.4(MPV17): c.22dupC (p.Gln8Profs)duplicationPathogenicrs267607266GRCh37Chr 2, 27545363: 27545363
15MPV17NM_ 002437.4(MPV17): c.234_ 242delTGGCACCAC (p.Gly79_ Thr81del)deletionPathogenicrs267607262GRCh37Chr 2, 27535584: 27535592
16MPV17NM_ 002437.4(MPV17): c.262A> G (p.Lys88Glu)SNVPathogenicrs267607256GRCh37Chr 2, 27535564: 27535564
17MPV17NM_ 002437.4(MPV17): c.263_ 265delAGA (p.Lys88del)deletionPathogenic/ Likely pathogenicrs267607263GRCh37Chr 2, 27535561: 27535563
18MPV17NM_ 002437.4(MPV17): c.271_ 273delTTG (p.Leu91del)deletionPathogenicrs267607264GRCh37Chr 2, 27535553: 27535555
19MPV17NM_ 002437.4(MPV17): c.280G> C (p.Gly94Arg)SNVPathogenicrs267607257GRCh37Chr 2, 27535456: 27535456
20MPV17NM_ 002437.4(MPV17): c.293C> T (p.Pro98Leu)SNVPathogenicrs267607258GRCh37Chr 2, 27535443: 27535443
21MPV17NM_ 002437.4(MPV17): c.451dupC (p.Leu151Profs)duplicationPathogenicrs267607267GRCh37Chr 2, 27534777: 27534777
22MPV17NM_ 002437.4(MPV17): c.485C> A (p.Ala162Asp)SNVPathogenicrs267607259GRCh37Chr 2, 27532826: 27532826
23MPV17NM_ 002437.4(MPV17): c.509C> T (p.Ser170Phe)SNVPathogenicrs267607260GRCh37Chr 2, 27532802: 27532802
24MPV17NM_ 002437.4(MPV17): c.70+5G> ASNVPathogenicrs267607268GRCh37Chr 2, 27545310: 27545310

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

About this section
Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 6.

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

About this section

GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

About this section

Sources for Mitochondrial Dna Depletion Syndrome 6

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet