MCID: MTC058
MIFTS: 16

Mitochondrial Dna Depletion Syndrome 6 malady

Genetic diseases (common), Neuronal diseases categories

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 6

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Mitochondrial Dna Depletion Syndrome 6, Aliases & Descriptions:

Name: Mitochondrial Dna Depletion Syndrome 6 45 10
 
Navajo Neurohepatopathy 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases


External Ids:

OMIM45 256810

Summaries for Mitochondrial Dna Depletion Syndrome 6

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OMIM:45 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 has symptoms including autosomal recessive inheritance, recurrent corneal erosions and nystagmus. An important gene associated with Mitochondrial Dna Depletion Syndrome 6 is MPV17 (MpV17 mitochondrial inner membrane protein). Affiliated tissues include liver.

Related Diseases for Mitochondrial Dna Depletion Syndrome 6

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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 syndrome10.5

Symptoms for Mitochondrial Dna Depletion Syndrome 6

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Symptoms by clinical synopsis from OMIM:

256810

Clinical features from OMIM:

256810

HPO human phenotypes related to Mitochondrial Dna Depletion Syndrome 6:

(show all 35)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 recurrent corneal erosions HP:0000495
3 nystagmus HP:0000639
4 acral ulceration and osteomyelitis leading to autoamputation of digits HP:0001226
5 ataxia HP:0001251
6 global developmental delay HP:0001263
7 hyporeflexia HP:0001265
8 areflexia HP:0001284
9 dystonia HP:0001332
10 cirrhosis HP:0001394
11 macrovesicular hepatic steatosis HP:0001403
12 microvesicular hepatic steatosis HP:0001414
13 failure to thrive HP:0001508
14 abnormality of the foot HP:0001760
15 hypoglycemia HP:0001943
16 vomiting HP:0002013
17 diarrhea HP:0002014
18 hepatomegaly HP:0002240
19 distal muscle weakness HP:0002460
20 increased susceptibility to fractures HP:0002659
21 painless fractures due to injury HP:0002661
22 abnormality of the immune system HP:0002715
23 elevated hepatic transaminases HP:0002910
24 lactic acidosis HP:0003128
25 decreased number of peripheral myelinated nerve fibers HP:0003380
26 infantile onset HP:0003593
27 progressive disorder HP:0003676
28 phenotypic variability HP:0003812
29 short stature HP:0004322
30 osteomyelitis leading to amputation due to slow healing fractures HP:0005010
31 acute hepatic failure HP:0006554
32 prolonged neonatal jaundice HP:0006579
33 reye syndrome-like episodes HP:0006582
34 pain insensitivity HP:0007021
35 sensorimotor neuropathy HP:0007141

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 6

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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Dna Depletion Syndrome 6

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 6

Genetic Tests for Mitochondrial Dna Depletion Syndrome 6

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 6

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

31
Liver

Animal Models for Mitochondrial Dna Depletion Syndrome 6 or affiliated genes

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Publications for Mitochondrial Dna Depletion Syndrome 6

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Variations for Mitochondrial Dna Depletion Syndrome 6

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

62
id Symbol AA change Variation ID SNP ID
1MPV17p.Arg50GlnVAR_026217
2MPV17p.Arg50TrpVAR_026218
3MPV17p.Asn166LysVAR_026219

Clinvar genetic disease variations for Mitochondrial Dna Depletion Syndrome 6:

6 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1MPV17NM_002437.4(MPV17): c.149G> A (p.Arg50Gln)single nucleotide variantPathogenicrs121909721GRCh37Chr 2, 27535898: 27535898
2MPV17NM_002437.4(MPV17): c.498C> A (p.Asn166Lys)single nucleotide variantPathogenicrs121909722GRCh37Chr 2, 27532813: 27532813
3MPV17NM_002437.4(MPV17): c.148C> T (p.Arg50Trp)single nucleotide variantPathogenicrs121909723GRCh37Chr 2, 27535899: 27535899
4MPV17MPV17, 26-BP DEL, NT116deletionPathogenic
5MPV17NM_002437.4(MPV17): c.359G> A (p.Trp120Ter)single nucleotide variantPathogenicrs121909724GRCh37Chr 2, 27535377: 27535377
6MPV17NM_002437.4(MPV17): c.70G> T (p.Gly24Trp)single nucleotide variantPathogenicrs121909725GRCh37Chr 2, 27545315: 27545315
7MPV17NM_002437.4: c.462-904_*601del1575insGCCTGindelPathogenicGRCh37Chr 2, 27532179: 27533753
8MPV17NM_002437.4(MPV17): c.116_141del26 (p.Arg41Profs)deletionPathogenicrs397507438GRCh37Chr 2, 27535906: 27535931
9MPV17NM_002437.4(MPV17): c.186+2T> Csingle nucleotide variantPathogenicrs147952488GRCh37Chr 2, 27535859: 27535859
10MPV17NM_002437.4(MPV17): c.206G> A (p.Trp69Ter)single nucleotide variantPathogenicrs267607261GRCh37Chr 2, 27535620: 27535620
11MPV17NM_002437.4(MPV17): c.22dupC (p.Gln8Profs)duplicationPathogenicrs267607266GRCh37Chr 2, 27545362: 27545363
12MPV17NM_002437.4(MPV17): c.234_242delTGGCACCAC (p.Gly79_Thr81del)deletionPathogenicrs267607262GRCh37Chr 2, 27535584: 27535592
13MPV17NM_002437.4(MPV17): c.262A> G (p.Lys88Glu)single nucleotide variantPathogenicrs267607256GRCh37Chr 2, 27535564: 27535564
14MPV17NM_002437.4(MPV17): c.263_265delAGA (p.Lys88del)deletionPathogenicrs267607263GRCh37Chr 2, 27535561: 27535563
15MPV17NM_002437.4(MPV17): c.271_273delTTG (p.Leu91del)deletionPathogenicrs267607264GRCh37Chr 2, 27535553: 27535555
16MPV17NM_002437.4(MPV17): c.280G> C (p.Gly94Arg)single nucleotide variantPathogenicrs267607257GRCh37Chr 2, 27535456: 27535456
17MPV17NM_002437.4(MPV17): c.293C> T (p.Pro98Leu)single nucleotide variantPathogenicrs267607258GRCh37Chr 2, 27535443: 27535443
18MPV17NM_002437.4(MPV17): c.451dupC (p.Leu151Profs)duplicationPathogenicrs267607267GRCh37Chr 2, 27534776: 27534777
19MPV17NM_002437.4(MPV17): c.485C> A (p.Ala162Asp)single nucleotide variantPathogenicrs267607259GRCh37Chr 2, 27532826: 27532826
20MPV17NM_002437.4(MPV17): c.509C> T (p.Ser170Phe)single nucleotide variantPathogenicrs267607260GRCh37Chr 2, 27532802: 27532802
21MPV17NM_002437.4(MPV17): c.70+5G> Asingle nucleotide variantPathogenicrs267607268GRCh37Chr 2, 27545310: 27545310

Expression for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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

Pathways for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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Compounds for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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GO Terms for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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Products for genes affiliated with Mitochondrial Dna Depletion Syndrome 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Dna Depletion Syndrome 6

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet