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 57 12 75 29 6 15 73
Mtdps13 57 75
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 59
Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 59
Mitochondrial Dna Depletion Syndrome, Type 13 40

Characteristics:

Orphanet epidemiological data:

59
mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial dna depletion syndrome 13:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 13

OMIM : 57 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 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 and liver, and related phenotypes are hypospadias and everted lower lip vermilion

UniProtKB/Swiss-Prot : 75 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:

57
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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 13:

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

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) 29 FBXL4

Anatomical Context for Mitochondrial Dna Depletion Syndrome 13

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

41
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:

75
# 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 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_001278716.1(FBXL4): c.1546_1563del18 (p.Pro516_Ser521del) deletion Likely pathogenic rs878853112 GRCh37 Chromosome 6, 99323430: 99323447
16 FBXL4 NM_001278716.1(FBXL4): c.1546_1563del18 (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_1642delTG (p.Cys547Terfs) deletion Pathogenic rs765882664 GRCh37 Chromosome 6, 99323351: 99323352
24 FBXL4 NM_012160.4(FBXL4): c.1641_1642delTG (p.Cys547Terfs) deletion Pathogenic rs765882664 GRCh38 Chromosome 6, 98875475: 98875476
25 FBXL4 NM_012160.4(FBXL4): c.618_621dupACTG (p.Glu208Thrfs) duplication Pathogenic rs886041625 GRCh37 Chromosome 6, 99365487: 99365490
26 FBXL4 NM_012160.4(FBXL4): c.618_621dupACTG (p.Glu208Thrfs) 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 GRCh38 Chromosome 6, 98874275: 98874275
36 FBXL4 NM_012160.4(FBXL4): c.*3T> C single nucleotide variant Benign rs115180578 GRCh37 Chromosome 6, 99322151: 99322151
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 GRCh38 Chromosome 6, 98880589: 98880589
40 FBXL4 NM_012160.4(FBXL4): c.1353A> G (p.Ser451=) single nucleotide variant Conflicting interpretations of pathogenicity rs141165629 GRCh37 Chromosome 6, 99328465: 99328465
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 GRCh38 Chromosome 6, 98899281: 98899281
46 FBXL4 NM_012160.4(FBXL4): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic/Likely pathogenic rs754142863 GRCh37 Chromosome 6, 99347157: 99347157
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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