MTDPS13
MCID: MTC088
MIFTS: 40

Mitochondrial Dna Depletion Syndrome 13 (MTDPS13)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic 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 57 12 53 74 29 6 15 72
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 12 24 53 25
Fbxl4 Deficiency 12 24 53 25
Mtdps13 57 53 25 74
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 53 59
Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 53 59
Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type 12 25
Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type 24
Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 53
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy 24
Fbxl4-Related Early Onset Mitochondrial Encephalopathy 25
Bxl4-Related Early-Onset Mitochondrial Encephalopathy 53
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:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080131
MeSH 44 D017237
ICD10 via Orphanet 34 E88.8
Orphanet 59 ORPHA369897
UMLS 72 C3809592

Summaries for Mitochondrial Dna Depletion Syndrome 13

Genetics Home Reference : 25 FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins in infancy and affects multiple body systems. It is primarily associated with brain dysfunction combined with muscle weakness (encephalomyopathy). FBXL4 Infants with FBXL4-related encephalomyopathic mtDNA depletion syndrome have weak muscle tone (hypotonia) and a failure to grow or gain weight at the expected rate (failure to thrive). Children with FBXL4-related encephalomyopathic mtDNA depletion syndrome have delayed development of mental and motor skills and severely impaired speech development. Many affected individuals have seizures, movement abnormalities, and an unusually small head size (microcephaly) with a loss of nerve cells in the brain (cerebral atrophy). FBXL4 FBXL4 All individuals with FBXL4-related encephalomyopathic mtDNA depletion syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis), and about half of individuals have an accumulation of ammonia in the blood. Buildup of these substances can be life-threatening. Many affected individuals also have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In addition, individuals with this condition can have vision problems, hearing loss, liver abnormalities (hepatopathy), and immune deficiency due to a decrease in white blood cells. Many children with FBXL4-related encephalomyopathic mtDNA depletion syndrome have distinctive facial features that can include thick eyebrows; outside corners of the eyes that point upward (upslanting palpebral fissures); a broad nasal bridge and tip; and a long, smooth space between the upper lip and nose (philtrum). FBXL4 FBXL4 Because the encephalomyopathy and other signs and symptoms are so severe, people with FBXL4-related encephalomyopathic mtDNA depletion syndrome usually live only into early childhood. FBXL4

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 13, also known as fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome, is related to strabismus and 3-methylglutaconic aciduria, type iii, 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 liver, brain and heart, and related phenotypes are nystagmus and ataxia

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has material basis in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16.

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)

UniProtKB/Swiss-Prot : 74 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.

GeneReviews: NBK425540

Related Diseases for Mitochondrial Dna Depletion Syndrome 13

Diseases in the Mitochondrial Dna Depletion Syndrome family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 16 Mitochondrial Dna Depletion Syndrome 12a
Mitochondrial Dna Depletion Syndrome 12b Mitochondrial Dna Deletion Syndromes
Multiple Mitochondrial Dna Deletion Syndrome

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 strabismus 10.4
2 3-methylglutaconic aciduria, type iii 10.4
3 alacrima, achalasia, and mental retardation syndrome 10.4
4 sensorineural hearing loss 10.4
5 neutropenia 10.4
6 movement disease 10.4
7 lymphopenia 10.4
8 mechanical strabismus 10.4
9 pathologic nystagmus 10.4
10 mitochondrial disorders 10.4
11 autonomic dysfunction 10.4
12 mitochondrial dna depletion syndrome 10.2
13 hypotonia 10.2
14 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
15 microcephaly 10.1
16 hypertrophic cardiomyopathy 10.1
17 cerebral atrophy 10.1
18 lactic acidosis 10.0
19 mitochondrial encephalomyopathy 10.0

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 13:



Diseases related to Mitochondrial Dna Depletion Syndrome 13

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 13

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 13:

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
encephalopathy
leukodystrophy
cerebral atrophy
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) 29 FBXL4

Anatomical Context for Mitochondrial Dna Depletion Syndrome 13

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

41
Liver, Brain, Heart, Eye, Skeletal Muscle

Publications for Mitochondrial Dna Depletion Syndrome 13

Articles related to Mitochondrial Dna Depletion Syndrome 13:

(show all 16)
# Title Authors PMID Year
1
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 4 8 71
23993193 2013
2
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. 4 8 71
23993194 2013
3
Mitochondrial DNA Maintenance Defects Overview 71
29517884 2018
4
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome 71
28383868 2017
5
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 38 4
27182039 2016
6
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 4
27743463 2017
7
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. 4
27858371 2017
8
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 4
27290639 2016
9
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 4
27099744 2016
10
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion. 4
26404457 2016
11
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. 4
26421988 2015
12
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 4
25868664 2015
13
Whole exome sequencing of suspected mitochondrial patients in clinical practice. 4
25735936 2015
14
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 4
23385875 2013
15
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 38
30771478 2019
16
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. 38
30804983 2019

Variations for Mitochondrial Dna Depletion Syndrome 13

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 13:

6 (show top 50) (show all 381)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBXL4 NM_001278716.2(FBXL4): c.1687C> T (p.Gln563Ter) single nucleotide variant Pathogenic rs1554215964 6:99323306-99323306 6:98875430-98875430
2 FBXL4 NM_001278716.2(FBXL4): c.1652T> A (p.Ile551Asn) single nucleotide variant Pathogenic rs1554215979 6:99323341-99323341 6:98875465-98875465
3 FBXL4 NM_001278716.2(FBXL4): c.1648_1649del (p.Asp550fs) deletion Pathogenic rs1554215986 6:99323344-99323345 6:98875468-98875469
4 FBXL4 NM_001278716.2(FBXL4): c.1389+3_1389+6del deletion Pathogenic rs1554216735 6:99328423-99328426 6:98880547-98880550
5 FBXL4 NM_001278716.2(FBXL4): c.1317G> A (p.Glu439=) single nucleotide variant Pathogenic rs1554218789 6:99347144-99347144 6:98899268-98899268
6 FBXL4 NM_001278716.2(FBXL4): c.1210C> T (p.Gln404Ter) single nucleotide variant Pathogenic rs1187832552 6:99347251-99347251 6:98899375-98899375
7 FBXL4 NM_001278716.2(FBXL4): c.1067del (p.Gly356fs) deletion Pathogenic rs1554219474 6:99353338-99353338 6:98905462-98905462
8 FBXL4 NM_001278716.2(FBXL4): c.858+1G> T single nucleotide variant Pathogenic rs1394080480 6:99365249-99365249 6:98917373-98917373
9 FBXL4 NM_001278716.2(FBXL4): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs964532159 6:99365492-99365492 6:98917616-98917616
10 FBXL4 NM_001278716.2(FBXL4): c.859-1G> T single nucleotide variant Pathogenic rs368965675 6:99353547-99353547 6:98905671-98905671
11 FBXL4 NM_001278716.2(FBXL4): c.513-1G> A single nucleotide variant Pathogenic rs1554221258 6:99365596-99365596 6:98917720-98917720
12 FBXL4 NM_001278716.2(FBXL4): c.326del (p.Ser109fs) deletion Pathogenic rs761215749 6:99374539-99374539 6:98926663-98926663
13 FBXL4 NM_001278716.2(FBXL4): c.316C> T (p.Gln106Ter) single nucleotide variant Pathogenic rs1554222122 6:99374549-99374549 6:98926673-98926673
14 FBXL4 NM_001278716.2(FBXL4): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs1554222130 6:99374573-99374573 6:98926697-98926697
15 FBXL4 NM_001278716.2(FBXL4): c.273_277del (p.Phe91fs) deletion Pathogenic rs766892502 6:99374588-99374592 6:98926712-98926716
16 FBXL4 NM_001278716.2(FBXL4): c.106A> T (p.Arg36Ter) single nucleotide variant Pathogenic rs1182326570 6:99374759-99374759 6:98926883-98926883
17 FBXL4 NM_001278716.2(FBXL4): c.219T> A (p.Tyr73Ter) single nucleotide variant Pathogenic rs747536886 6:99374646-99374646 6:98926770-98926770
18 FBXL4 NM_001278716.2(FBXL4): c.1555C> T (p.Gln519Ter) single nucleotide variant Pathogenic rs398123059 6:99323438-99323438 6:98875562-98875562
19 FBXL4 NM_001278716.2(FBXL4): c.1303C> T (p.Arg435Ter) single nucleotide variant Pathogenic rs201889294 6:99347158-99347158 6:98899282-98899282
20 FBXL4 NM_001278716.2(FBXL4): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs200440128 6:99374801-99374801 6:98926925-98926925
21 FBXL4 NM_001278716.2(FBXL4): c.1635_1636TG[3] (p.Cys547_Asp548delinsTer) short repeat Pathogenic rs765882664 6:99323351-99323352 6:98875475-98875476
22 FBXL4 NM_001278716.2(FBXL4): c.618_621dup (p.Glu208fs) duplication Pathogenic rs886041625 6:99365487-99365490 6:98917611-98917614
23 FBXL4 NM_001278716.2(FBXL4): c.1703G> C (p.Gly568Ala) single nucleotide variant Pathogenic/Likely pathogenic rs398123060 6:99322317-99322317 6:98874441-98874441
24 FBXL4 NM_001278716.2(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 6:99323549-99323549 6:98875673-98875673
25 FBXL4 NM_001278716.2(FBXL4): c.1790A> C (p.Gln597Pro) single nucleotide variant Pathogenic/Likely pathogenic rs201989042 6:99322230-99322230 6:98874354-98874354
26 FBXL4 NM_001278716.2(FBXL4): c.1304G> A (p.Arg435Gln) single nucleotide variant Pathogenic/Likely pathogenic rs754142863 6:99347157-99347157 6:98899281-98899281
27 FBXL4 NM_001278716.2(FBXL4): c.419T> C (p.Val140Ala) single nucleotide variant Likely pathogenic rs1057519447 6:99374446-99374446 6:98926570-98926570
28 FBXL4 NM_001278716.2(FBXL4): c.1838T> A (p.Val613Glu) single nucleotide variant Likely pathogenic rs1554215766 6:99322182-99322182 6:98874306-98874306
29 FBXL4 NM_001278716.2(FBXL4): c.1836del (p.Val613fs) deletion Likely pathogenic rs751656896 6:99322184-99322184 6:98874308-98874308
30 FBXL4 NM_001278716.2(FBXL4): c.1750T> C (p.Cys584Arg) single nucleotide variant Likely pathogenic rs1554215804 6:99322270-99322270 6:98874394-98874394
31 FBXL4 NM_001278716.2(FBXL4): c.1772A> G (p.Asp591Gly) single nucleotide variant Likely pathogenic rs747618415 6:99322248-99322248 6:98874372-98874372
32 FBXL4 NM_001278716.2(FBXL4): c.1586C> A (p.Ala529Glu) single nucleotide variant Likely pathogenic rs1443104983 6:99323407-99323407 6:98875531-98875531
33 FBXL4 NM_001278716.2(FBXL4): c.1540T> G (p.Trp514Gly) single nucleotide variant Likely pathogenic rs1411907961 6:99323453-99323453 6:98875577-98875577
34 FBXL4 NM_001278716.2(FBXL4): c.1698A> G (p.Ile566Met) single nucleotide variant Likely pathogenic rs1554215959 6:99323295-99323295 6:98875419-98875419
35 FBXL4 NM_001278716.2(FBXL4): c.1622C> T (p.Thr541Ile) single nucleotide variant Likely pathogenic rs1391578014 6:99323371-99323371 6:98875495-98875495
36 FBXL4 NM_001278716.2(FBXL4): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs750973870 6:99328458-99328458 6:98880582-98880582
37 FBXL4 NM_001278716.2(FBXL4): c.1411G> A (p.Ala471Thr) single nucleotide variant Likely pathogenic rs1227524799 6:99323582-99323582 6:98875706-98875706
38 FBXL4 NM_001278716.2(FBXL4): c.370C> T (p.Gln124Ter) single nucleotide variant Likely pathogenic rs761974928 6:99374495-99374495 6:98926619-98926619
39 FBXL4 NM_001278716.2(FBXL4): c.662A> T (p.Asp221Val) single nucleotide variant Likely pathogenic rs1554221189 6:99365446-99365446 6:98917570-98917570
40 FBXL4 NM_001278716.2(FBXL4): c.661G> C (p.Asp221His) single nucleotide variant Likely pathogenic rs1554221191 6:99365447-99365447 6:98917571-98917571
41 FBXL4 NM_001278716.2(FBXL4): c.445G> A (p.Gly149Arg) single nucleotide variant Likely pathogenic rs1345325140 6:99374420-99374420 6:98926544-98926544
42 FBXL4 NM_001278716.2(FBXL4): c.415_416insTT (p.Ala139fs) insertion Likely pathogenic rs767543583 6:99374449-99374450 6:98926573-98926574
43 FBXL4 NM_001278716.2(FBXL4): c.858+5G> C single nucleotide variant Likely pathogenic rs1257765682 6:99365245-99365245 6:98917369-98917369
44 FBXL4 NM_001278716.2(FBXL4): c.1232G> A (p.Cys411Tyr) single nucleotide variant Likely pathogenic rs773850151 6:99347229-99347229 6:98899353-98899353
45 FBXL4 NM_001278716.2(FBXL4): c.1229C> T (p.Ser410Phe) single nucleotide variant Likely pathogenic rs1554218821 6:99347232-99347232 6:98899356-98899356
46 FBXL4 NM_001278716.2(FBXL4): c.614T> C (p.Ile205Thr) single nucleotide variant Likely pathogenic rs1350566881 6:99365494-99365494 6:98917618-98917618
47 FBXL4 NM_001278716.2(FBXL4): c.1288C> T (p.Arg430Ter) single nucleotide variant Likely pathogenic rs758395213 6:99347173-99347173 6:98899297-98899297
48 FBXL4 NM_001278716.2(FBXL4): c.1304G> T (p.Arg435Leu) single nucleotide variant Likely pathogenic rs754142863 6:99347157-99347157 6:98899281-98899281
49 FBXL4 NM_001278716.2(FBXL4): c.903T> A (p.Cys301Ter) single nucleotide variant Likely pathogenic rs775768793 6:99353502-99353502 6:98905626-98905626
50 FBXL4 NM_001278716.2(FBXL4): c.1694A> G (p.Asp565Gly) single nucleotide variant Likely pathogenic rs398123062 6:99323299-99323299 6:98875423-98875423

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

74
# 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 rs155421597
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

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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