MTDPS13
MCID: MTC088
MIFTS: 32

Mitochondrial Dna Depletion Syndrome 13 (MTDPS13)

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 13

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 13:

Name: Mitochondrial Dna Depletion Syndrome 13 58 12 76 30 6 15 74
Mtdps13 58 76
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 60
Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 60
Mitochondrial Dna Depletion Syndrome, Type 13 41

Characteristics:

Orphanet epidemiological data:

60
mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
mitochondrial dna depletion syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 13

OMIM : 58 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 mitochondrial dna depletion syndrome, and has symptoms including seizures 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, liver and bone, and related phenotypes are nystagmus and ataxia

UniProtKB/Swiss-Prot : 76 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.

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 13

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 13:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
encephalopathy
cerebral atrophy
leukodystrophy
delayed myelination
more
Abdomen Gastrointestinal:
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

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) 30 FBXL4

Anatomical Context for Mitochondrial Dna Depletion Syndrome 13

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

42
Skeletal Muscle, Liver, Bone, Eye

Publications for Mitochondrial Dna Depletion Syndrome 13

Articles related to Mitochondrial Dna Depletion Syndrome 13:

# Title Authors Year
1
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. ( 30804983 )
2019
2
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. ( 27182039 )
2016
3
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. ( 23993194 )
2013
4
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. ( 23993193 )
2013

Variations for Mitochondrial Dna Depletion Syndrome 13

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

76
# Symbol AA change Variation ID SNP ID
1 FBXL4 p.Ile205Thr VAR_070858 rs135056688
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 762)
# 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.1555C> T (p.Gln519Ter) single nucleotide variant Pathogenic rs398123059 GRCh38 Chromosome 6, 98875562: 98875562
3 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh37 Chromosome 6, 99347158: 99347158
4 FBXL4 NM_012160.4(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 GRCh38 Chromosome 6, 98899282: 98899282
5 FBXL4 NM_012160.4(FBXL4): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123060 GRCh37 Chromosome 6, 99322317: 99322317
6 FBXL4 NM_012160.4(FBXL4): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123060 GRCh38 Chromosome 6, 98874441: 98874441
7 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
8 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh38 Chromosome 6, 98875673: 98875673
9 FBXL4 NM_012160.4(FBXL4): c.1694A> G (p.Asp565Gly) single nucleotide variant Likely pathogenic rs398123062 GRCh37 Chromosome 6, 99323299: 99323299
10 FBXL4 NM_012160.4(FBXL4): c.1694A> G (p.Asp565Gly) single nucleotide variant Likely pathogenic rs398123062 GRCh38 Chromosome 6, 98875423: 98875423
11 FBXL4 NM_012160.4(FBXL4): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs200440128 GRCh37 Chromosome 6, 99374801: 99374801
12 FBXL4 NM_012160.4(FBXL4): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs200440128 GRCh38 Chromosome 6, 98926925: 98926925
13 FBXL4 NM_012160.4(FBXL4): c.1442T> C (p.Leu481Pro) single nucleotide variant Likely pathogenic rs772037717 GRCh38 Chromosome 6, 98875675: 98875675
14 FBXL4 NM_012160.4(FBXL4): c.1442T> C (p.Leu481Pro) single nucleotide variant Likely pathogenic rs772037717 GRCh37 Chromosome 6, 99323551: 99323551
15 FBXL4 NM_012160.4(FBXL4): c.1546_1563del (p.Pro516_Ser521del) deletion Likely pathogenic rs878853112 GRCh37 Chromosome 6, 99323430: 99323447
16 FBXL4 NM_012160.4(FBXL4): c.1546_1563del (p.Pro516_Ser521del) deletion Likely pathogenic rs878853112 GRCh38 Chromosome 6, 98875554: 98875571
17 FBXL4 NM_012160.4(FBXL4): c.1569G> A (p.Gly523=) single nucleotide variant Benign rs11537982 GRCh38 Chromosome 6, 98875548: 98875548
18 FBXL4 NM_012160.4(FBXL4): c.1569G> A (p.Gly523=) single nucleotide variant Benign rs11537982 GRCh37 Chromosome 6, 99323424: 99323424
19 FBXL4 NM_012160.4(FBXL4): c.465C> T (p.Leu155=) single nucleotide variant Benign rs1011676 GRCh37 Chromosome 6, 99374400: 99374400
20 FBXL4 NM_012160.4(FBXL4): c.465C> T (p.Leu155=) single nucleotide variant Benign rs1011676 GRCh38 Chromosome 6, 98926524: 98926524
21 FBXL4 NM_012160.4(FBXL4): c.105T> A (p.His35Gln) single nucleotide variant Benign rs34316889 GRCh37 Chromosome 6, 99374760: 99374760
22 FBXL4 NM_012160.4(FBXL4): c.105T> A (p.His35Gln) single nucleotide variant Benign rs34316889 GRCh38 Chromosome 6, 98926884: 98926884
23 FBXL4 NM_012160.4(FBXL4): c.1641_1642del (p.Cys547Terfs) deletion Pathogenic rs765882664 GRCh37 Chromosome 6, 99323351: 99323352
24 FBXL4 NM_012160.4(FBXL4): c.1641_1642del (p.Cys547Terfs) deletion Pathogenic rs765882664 GRCh38 Chromosome 6, 98875475: 98875476
25 FBXL4 NM_012160.3(FBXL4): c.618_621dupACTG duplication Pathogenic rs886041625 GRCh37 Chromosome 6, 99365487: 99365490
26 FBXL4 NM_012160.3(FBXL4): c.618_621dupACTG duplication Pathogenic rs886041625 GRCh38 Chromosome 6, 98917611: 98917614
27 FBXL4 NM_012160.4(FBXL4): c.1025C> G (p.Ser342Cys) single nucleotide variant Uncertain significance rs780707718 GRCh37 Chromosome 6, 99353380: 99353380
28 FBXL4 NM_012160.4(FBXL4): c.1025C> G (p.Ser342Cys) single nucleotide variant Uncertain significance rs780707718 GRCh38 Chromosome 6, 98905504: 98905504
29 FBXL4 NM_012160.4(FBXL4): c.419T> C (p.Val140Ala) single nucleotide variant Likely pathogenic rs1057519447 GRCh37 Chromosome 6, 99374446: 99374446
30 FBXL4 NM_012160.4(FBXL4): c.419T> C (p.Val140Ala) single nucleotide variant Likely pathogenic rs1057519447 GRCh38 Chromosome 6, 98926570: 98926570
31 FBXL4 NM_012160.4(FBXL4): c.468T> C (p.Ala156=) single nucleotide variant Benign/Likely benign rs114916821 GRCh37 Chromosome 6, 99374397: 99374397
32 FBXL4 NM_012160.4(FBXL4): c.468T> C (p.Ala156=) single nucleotide variant Benign/Likely benign rs114916821 GRCh38 Chromosome 6, 98926521: 98926521
33 FBXL4 NM_012160.4(FBXL4): c.351G> A (p.Thr117=) single nucleotide variant Conflicting interpretations of pathogenicity rs375173811 GRCh37 Chromosome 6, 99374514: 99374514
34 FBXL4 NM_012160.4(FBXL4): c.351G> A (p.Thr117=) single nucleotide variant Conflicting interpretations of pathogenicity rs375173811 GRCh38 Chromosome 6, 98926638: 98926638
35 FBXL4 NM_012160.4(FBXL4): c.*3T> C single nucleotide variant Benign rs115180578 GRCh37 Chromosome 6, 99322151: 99322151
36 FBXL4 NM_012160.4(FBXL4): c.*3T> C single nucleotide variant Benign rs115180578 GRCh38 Chromosome 6, 98874275: 98874275
37 FBXL4 NM_012160.4(FBXL4): c.978A> G (p.Gln326=) single nucleotide variant Benign rs61744041 GRCh37 Chromosome 6, 99353427: 99353427
38 FBXL4 NM_012160.4(FBXL4): c.978A> G (p.Gln326=) single nucleotide variant Benign rs61744041 GRCh38 Chromosome 6, 98905551: 98905551
39 FBXL4 NM_012160.4(FBXL4): c.1353A> G (p.Ser451=) single nucleotide variant Conflicting interpretations of pathogenicity rs141165629 GRCh37 Chromosome 6, 99328465: 99328465
40 FBXL4 NM_012160.4(FBXL4): c.1353A> G (p.Ser451=) single nucleotide variant Conflicting interpretations of pathogenicity rs141165629 GRCh38 Chromosome 6, 98880589: 98880589
41 FBXL4 NM_012160.4(FBXL4): c.1317+14A> G single nucleotide variant Conflicting interpretations of pathogenicity rs182139048 GRCh37 Chromosome 6, 99347130: 99347130
42 FBXL4 NM_012160.4(FBXL4): c.1317+14A> G single nucleotide variant Conflicting interpretations of pathogenicity rs182139048 GRCh38 Chromosome 6, 98899254: 98899254
43 FBXL4 NM_012160.4(FBXL4): c.429A> G (p.Leu143=) single nucleotide variant Likely benign rs17058965 GRCh37 Chromosome 6, 99374436: 99374436
44 FBXL4 NM_012160.4(FBXL4): c.429A> G (p.Leu143=) single nucleotide variant Likely benign rs17058965 GRCh38 Chromosome 6, 98926560: 98926560
45 FBXL4 NM_012160.4(FBXL4): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic/Likely pathogenic rs754142863 GRCh37 Chromosome 6, 99347157: 99347157
46 FBXL4 NM_012160.4(FBXL4): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic/Likely pathogenic rs754142863 GRCh38 Chromosome 6, 98899281: 98899281
47 FBXL4 NM_012160.4(FBXL4): c.*18A> G single nucleotide variant Uncertain significance rs9388792 GRCh37 Chromosome 6, 99322136: 99322136
48 FBXL4 NM_012160.4(FBXL4): c.*18A> G single nucleotide variant Uncertain significance rs9388792 GRCh38 Chromosome 6, 98874260: 98874260
49 FBXL4 NM_012160.4(FBXL4): c.*11G> A single nucleotide variant Uncertain significance rs773599829 GRCh38 Chromosome 6, 98874267: 98874267
50 FBXL4 NM_012160.4(FBXL4): c.*11G> A single nucleotide variant Uncertain significance rs773599829 GRCh37 Chromosome 6, 99322143: 99322143

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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