MCID: MTC088
MIFTS: 26

Mitochondrial Dna Depletion Syndrome 13

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 13

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 13:

Name: Mitochondrial Dna Depletion Syndrome 13 53 12 71 28 14 69
Mtdps13 53 71
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 55
Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 55

Characteristics:

Orphanet epidemiological data:

55
mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
may result in early death
onset at birth or early infancy


HPO:

31
mitochondrial dna depletion syndrome 13:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 13

OMIM : 53 Mitochondrial DNA depletion syndrome-13 is an autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content (summary by Bonnen et al., 2013 and Gai et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (615471)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 13, also known as mtdps13, is related to fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome, and has symptoms including ataxia, seizures and dystonia. An important gene associated with Mitochondrial Dna Depletion Syndrome 13 is FBXL4 (F-Box And Leucine Rich Repeat Protein 4). Affiliated tissues include skeletal muscle and liver.

UniProtKB/Swiss-Prot : 71 Mitochondrial DNA depletion syndrome 13: An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content.

Related Diseases for Mitochondrial Dna Depletion Syndrome 13

Diseases related to Mitochondrial Dna Depletion Syndrome 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 11.6

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 13

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
encephalopathy
cerebral atrophy
leukodystrophy
delayed myelination
more
Abdomen Gastroin testinal:
dysphagia
gastroesophageal reflux disease

Metabolic Features:
lactic acidosis

Head And Neck Face:
narrow face
elongated face
dysmorphic facial features, variable (in some patients)

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
thick eyebrows
nystagmus (in some patients)
cataracts (in some patients)

Growth Weight:
low birth weight

Immunology:
recurrent infections (in some patients)

Head And Neck Mouth:
everted lower lip

Hematology:
neutropenia (in some patients)

Genitourinary Kidneys:
renal tubular acidosis (in some patients)

Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
increased serum lactate
increased serum alanine
abnormal liver enzymes (in some patients)
increased serum ammonia
mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)
more
Genitourinary External Genitalia Male:
hypospadias

Muscle Soft Tissue:
hypotonia
muscle atrophy

Head And Neck Nose:
saddle nose

Skeletal Spine:
scoliosis (in some patients)

Head And Neck Ears:
malformed ears
protruding ears

Head And Neck Head:
microcephaly (in some patients)
plagiocephaly (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (uncommon)
arrhythmia (uncommon)

Skeletal Feet:
small feet (in some patients)


Clinical features from OMIM:

615471

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 13:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 seizures 31 HP:0001250
3 dystonia 31 occasional (7.5%) HP:0001332
4 nystagmus 31 occasional (7.5%) HP:0000639
5 failure to thrive 31 HP:0001508
6 dysphagia 31 HP:0002015
7 scoliosis 31 occasional (7.5%) HP:0002650
8 cataract 31 occasional (7.5%) HP:0000518
9 global developmental delay 31 HP:0001263
10 microcephaly 31 HP:0000252
11 thick eyebrow 31 HP:0000574
12 gastroesophageal reflux 31 HP:0002020
13 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
14 arrhythmia 31 occasional (7.5%) HP:0011675
15 skeletal muscle atrophy 31 HP:0003202
16 epicanthus 31 HP:0000286
17 short foot 31 occasional (7.5%) HP:0001773
18 concave nasal ridge 31 HP:0011120
19 everted lower lip vermilion 31 HP:0000232
20 growth delay 31 HP:0001510
21 elevated hepatic transaminases 31 occasional (7.5%) HP:0002910
22 protruding ear 31 HP:0000411
23 increased serum lactate 31 HP:0002151
24 lactic acidosis 31 HP:0003128
25 hypospadias 31 HP:0000047
26 narrow face 31 HP:0000275
27 downslanted palpebral fissures 31 HP:0000494
28 recurrent infections 31 occasional (7.5%) HP:0002719
29 neutropenia 31 occasional (7.5%) HP:0001875
30 mitochondrial respiratory chain defects 31 HP:0200125
31 plagiocephaly 31 occasional (7.5%) HP:0001357
32 cerebellar atrophy 31 occasional (7.5%) HP:0001272
33 encephalopathy 31 HP:0001298
34 hypoplasia of the corpus callosum 31 HP:0002079
35 choreoathetosis 31 occasional (7.5%) HP:0001266
36 cerebral atrophy 31 HP:0002059
37 leukodystrophy 31 HP:0002415
38 generalized hypotonia 31 HP:0001290
39 small for gestational age 31 HP:0001518
40 renal tubular acidosis 31 occasional (7.5%) HP:0001947
41 hyperalaninemia 31 HP:0003348
42 delayed myelination 31 HP:0012448

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 13:


seizures

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 13

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 13

Genetic Tests for Mitochondrial Dna Depletion Syndrome 13

Genetic tests related to Mitochondrial Dna Depletion Syndrome 13:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 13 (encephalomyopathic Type) 28 FBXL4

Anatomical Context for Mitochondrial Dna Depletion Syndrome 13

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 13:

38
Skeletal Muscle, Liver

Publications for Mitochondrial Dna Depletion Syndrome 13

Articles related to Mitochondrial Dna Depletion Syndrome 13:

# Title Authors Year
1
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. ( 27182039 )
2016

Variations for Mitochondrial Dna Depletion Syndrome 13

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 13:

71
# Symbol AA change Variation ID SNP ID
1 FBXL4 p.Ile205Thr VAR_070858
2 FBXL4 p.Arg482Trp VAR_070859 rs398123061
3 FBXL4 p.Ile551Asn VAR_070860
4 FBXL4 p.Asp565Gly VAR_070861 rs398123062
5 FBXL4 p.Gly568Ala VAR_070862 rs398123060
6 FBXL4 p.Gln597Pro VAR_070863 rs201989042
7 FBXL4 p.Leu481Pro VAR_076547 rs772037717

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 13:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBXL4 NM_012160.4(FBXL4): c.1555C> T (p.Gln519Ter) single nucleotide variant Pathogenic rs398123059 GRCh37 Chromosome 6, 99323438: 99323438
2 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh37 Chromosome 6, 99347158: 99347158
3 FBXL4 NM_012160.4(FBXL4): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123060 GRCh37 Chromosome 6, 99322317: 99322317
4 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
5 FBXL4 NM_012160.4(FBXL4): c.1694A> G (p.Asp565Gly) single nucleotide variant Pathogenic/Likely pathogenic rs398123062 GRCh37 Chromosome 6, 99323299: 99323299
6 FBXL4 NM_012160.4(FBXL4): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs200440128 GRCh37 Chromosome 6, 99374801: 99374801
7 FBXL4 NM_012160.4(FBXL4): c.1442T> C (p.Leu481Pro) single nucleotide variant Likely pathogenic rs772037717 GRCh38 Chromosome 6, 98875675: 98875675
8 FBXL4 NM_001278716.1(FBXL4): c.1546_1563del18 (p.Pro516_Ser521del) deletion Likely pathogenic rs878853112 GRCh37 Chromosome 6, 99323430: 99323447
9 FBXL4 NM_012160.4(FBXL4): c.1641_1642delTG (p.Cys547Terfs) deletion Pathogenic rs765882664 GRCh37 Chromosome 6, 99323351: 99323352
10 FBXL4 NM_012160.4(FBXL4): c.618_621dupACTG (p.Glu208Thrfs) duplication Pathogenic rs886041625 GRCh37 Chromosome 6, 99365487: 99365490
11 FBXL4 NM_012160.4(FBXL4): c.419T> C (p.Val140Ala) single nucleotide variant Pathogenic/Likely pathogenic rs1057519447 GRCh37 Chromosome 6, 99374446: 99374446
12 FBXL4 NM_012160.4(FBXL4): c.1304G> A (p.Arg435Gln) single nucleotide variant Likely pathogenic rs754142863 GRCh37 Chromosome 6, 99347157: 99347157
13 FBXL4 NM_012160.4(FBXL4): c.1838T> A (p.Val613Glu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99322182: 99322182
14 FBXL4 NM_001278716.1(FBXL4): c.1836delA (p.Val613Cysfs) deletion Likely pathogenic rs751656896 GRCh37 Chromosome 6, 99322184: 99322184
15 FBXL4 NM_012160.4(FBXL4): c.1790A> C (p.Gln597Pro) single nucleotide variant Likely pathogenic rs201989042 GRCh38 Chromosome 6, 98874354: 98874354
16 FBXL4 NM_012160.4(FBXL4): c.1772A> G (p.Asp591Gly) single nucleotide variant Likely pathogenic rs747618415 GRCh38 Chromosome 6, 98874372: 98874372
17 FBXL4 NM_012160.4(FBXL4): c.1750T> C (p.Cys584Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 98874394: 98874394
18 FBXL4 NM_012160.4(FBXL4): c.1698A> G (p.Ile566Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99323295: 99323295
19 FBXL4 NM_012160.4(FBXL4): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 98875430: 98875430
20 FBXL4 NM_012160.4(FBXL4): c.1652T> A (p.Ile551Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 98875465: 98875465
21 FBXL4 NM_001278716.1(FBXL4): c.1648_1649delGA (p.Asp550Hisfs) deletion Pathogenic GRCh38 Chromosome 6, 98875468: 98875469
22 FBXL4 NM_012160.4(FBXL4): c.1622C> T (p.Thr541Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 98875495: 98875495
23 FBXL4 NM_012160.4(FBXL4): c.1586C> A (p.Ala529Glu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 98875531: 98875531
24 FBXL4 NM_012160.4(FBXL4): c.1540T> G (p.Trp514Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99323453: 99323453
25 FBXL4 NM_012160.4(FBXL4): c.1411G> A (p.Ala471Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99323582: 99323582
26 FBXL4 NM_012160.4(FBXL4): c.1389+3_1389+6del deletion Pathogenic GRCh37 Chromosome 6, 99328423: 99328426
27 FBXL4 NM_012160.4(FBXL4): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs750973870 GRCh37 Chromosome 6, 99328458: 99328458
28 FBXL4 NM_012160.4(FBXL4): c.1317G> A (p.Glu439=) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 99347144: 99347144
29 FBXL4 NM_012160.4(FBXL4): c.1304G> T (p.Arg435Leu) single nucleotide variant Likely pathogenic rs754142863 GRCh37 Chromosome 6, 99347157: 99347157
30 FBXL4 NM_012160.4(FBXL4): c.1288C> T (p.Arg430Ter) single nucleotide variant Likely pathogenic rs758395213 GRCh37 Chromosome 6, 99347173: 99347173
31 FBXL4 NM_012160.4(FBXL4): c.1232G> A (p.Cys411Tyr) single nucleotide variant Likely pathogenic rs773850151 GRCh37 Chromosome 6, 99347229: 99347229
32 FBXL4 NM_012160.4(FBXL4): c.1229C> T (p.Ser410Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99347232: 99347232
33 FBXL4 NM_012160.4(FBXL4): c.1210C> T (p.Gln404Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 98899375: 98899375
34 FBXL4 NM_001278716.1(FBXL4): c.1067delG (p.Gly356Alafs) deletion Pathogenic GRCh38 Chromosome 6, 98905462: 98905462
35 FBXL4 NM_012160.4(FBXL4): c.903T> A (p.Cys301Ter) single nucleotide variant Likely pathogenic rs775768793 GRCh38 Chromosome 6, 98905626: 98905626
36 FBXL4 NM_012160.4(FBXL4): c.859-1G> T single nucleotide variant Pathogenic rs368965675 GRCh38 Chromosome 6, 98905671: 98905671
37 FBXL4 NM_012160.4(FBXL4): c.858+5G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 98917369: 98917369
38 FBXL4 NM_012160.4(FBXL4): c.858+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 6, 98917373: 98917373
39 FBXL4 NM_012160.4(FBXL4): c.662A> T (p.Asp221Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99365446: 99365446
40 FBXL4 NM_012160.4(FBXL4): c.661G> C (p.Asp221His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99365447: 99365447
41 FBXL4 NM_012160.4(FBXL4): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs964532159 GRCh38 Chromosome 6, 98917616: 98917616
42 FBXL4 NM_012160.4(FBXL4): c.614T> C (p.Ile205Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99365494: 99365494
43 FBXL4 NM_012160.4(FBXL4): c.513-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 99365596: 99365596
44 FBXL4 NM_012160.4(FBXL4): c.445G> A (p.Gly149Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 99374420: 99374420
45 FBXL4 NM_012160.4(FBXL4): c.417_418insA (p.Val140Serfs) insertion Likely pathogenic rs761902417 GRCh37 Chromosome 6, 99374447: 99374448
46 FBXL4 NM_012160.4(FBXL4): c.415_416insTT (p.Ala139Valfs) insertion Likely pathogenic rs767543583 GRCh37 Chromosome 6, 99374449: 99374450
47 FBXL4 NM_012160.4(FBXL4): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs761974928 GRCh37 Chromosome 6, 99374495: 99374495
48 FBXL4 NM_001278716.1(FBXL4): c.326delG (p.Ser109Metfs) deletion Pathogenic rs761215749 GRCh38 Chromosome 6, 98926663: 98926663
49 FBXL4 NM_012160.4(FBXL4): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 99374549: 99374549
50 FBXL4 NM_012160.4(FBXL4): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 99374573: 99374573

Expression for Mitochondrial Dna Depletion Syndrome 13

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 13.

Pathways for Mitochondrial Dna Depletion Syndrome 13

GO Terms for Mitochondrial Dna Depletion Syndrome 13

Sources for Mitochondrial Dna Depletion Syndrome 13

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