MTDPS13
MCID: MTC088
MIFTS: 43

Mitochondrial Dna Depletion Syndrome 13 (MTDPS13)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 20 72 29 6 15 70
Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 12 25 20 43
Fbxl4 Deficiency 12 25 20 43
Mtdps13 57 20 43 72
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 20 58
Mtdna Depletion Syndrome, Encephalomyopathic Form with Variable Craniofacial Anomalies 20 58
Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type 12 43
Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type 25
Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 20
Fbxl4-Related Early-Onset Mitochondrial Encephalopathy 25
Fbxl4-Related Early Onset Mitochondrial Encephalopathy 43
Bxl4-Related Early-Onset Mitochondrial Encephalopathy 20
Mitochondrial Dna Depletion Syndrome, Type 13 39

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
mitochondrial dna depletion syndrome 13:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 13

MedlinePlus Genetics : 43 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).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).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).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.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 13, also known as fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome, is related to encephalopathy 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 heart, eye and liver, and related phenotypes are scoliosis and nystagmus

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 19
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 27)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 29.8 UNC80 SLC13A5
2 mitochondrial dna depletion syndrome 10.4
3 strabismus 10.4
4 3-methylglutaconic aciduria, type iii 10.4
5 alacrima, achalasia, and mental retardation syndrome 10.4
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
7 sensorineural hearing loss 10.4
8 neutropenia 10.4
9 movement disease 10.4
10 lymphopenia 10.4
11 mechanical strabismus 10.4
12 pathologic nystagmus 10.4
13 mitochondrial disorders 10.4
14 autonomic dysfunction 10.4
15 hypotonia 10.2
16 enterocolitis 10.1
17 hypertrophic cardiomyopathy 10.1
18 lactic acidosis 10.1
19 myopathy 10.1
20 mitochondrial myopathy 10.1
21 perinatal necrotizing enterocolitis 10.1
22 mitochondrial encephalomyopathy 10.1
23 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
24 microcephaly 9.9
25 cerebral atrophy 9.9
26 leukodystrophy, hypomyelinating, 11 9.6 GSPT2 EMC1
27 brugada syndrome 5 9.6 GSPT2 EMC1

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:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 nystagmus 31 occasional (7.5%) HP:0000639
3 ataxia 31 occasional (7.5%) HP:0001251
4 cataract 31 occasional (7.5%) HP:0000518
5 microcephaly 31 occasional (7.5%) HP:0000252
6 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
7 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
8 arrhythmia 31 occasional (7.5%) HP:0011675
9 dystonia 31 occasional (7.5%) HP:0001332
10 neutropenia 31 occasional (7.5%) HP:0001875
11 plagiocephaly 31 occasional (7.5%) HP:0001357
12 short foot 31 occasional (7.5%) HP:0001773
13 cerebellar atrophy 31 occasional (7.5%) HP:0001272
14 recurrent infections 31 occasional (7.5%) HP:0002719
15 choreoathetosis 31 occasional (7.5%) HP:0001266
16 renal tubular acidosis 31 occasional (7.5%) HP:0001947
17 failure to thrive 31 HP:0001508
18 dysphagia 31 HP:0002015
19 global developmental delay 31 HP:0001263
20 thick eyebrow 31 HP:0000574
21 gastroesophageal reflux 31 HP:0002020
22 skeletal muscle atrophy 31 HP:0003202
23 everted lower lip vermilion 31 HP:0000232
24 growth delay 31 HP:0001510
25 epicanthus 31 HP:0000286
26 narrow face 31 HP:0000275
27 downslanted palpebral fissures 31 HP:0000494
28 protruding ear 31 HP:0000411
29 increased serum lactate 31 HP:0002151
30 hypospadias 31 HP:0000047
31 severe global developmental delay 31 HP:0011344
32 hypoplasia of the corpus callosum 31 HP:0002079
33 encephalopathy 31 HP:0001298
34 leukodystrophy 31 HP:0002415
35 lactic acidosis 31 HP:0003128
36 cerebral atrophy 31 HP:0002059
37 small for gestational age 31 HP:0001518
38 generalized hypotonia 31 HP:0001290
39 hyperalaninemia 31 HP:0003348
40 concave nasal ridge 31 HP:0011120
41 mitochondrial respiratory chain defects 31 HP:0200125
42 delayed myelination 31 HP:0012448
43 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
encephalopathy
leukodystrophy
cerebral atrophy
delayed myelination
more
Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux disease

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
Metabolic Features:
lactic acidosis

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

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

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 (Updated 20-May-2021)

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:

40
Heart, Eye, Liver, Skeletal Muscle, Bone

Publications for Mitochondrial Dna Depletion Syndrome 13

Articles related to Mitochondrial Dna Depletion Syndrome 13:

(show all 23)
# Title Authors PMID Year
1
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 25 57 6
23993193 2013
2
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. 6 25 57
23993194 2013
3
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. 6 25 61
27182039 2016
4
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 25 6
27743463 2017
5
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. 6 25
27858371 2017
6
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 25 6
27290639 2016
7
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 25 6
27099744 2016
8
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25 6
25868664 2015
9
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
10
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
11
Influence of Body Composition, Oral Contraceptive Use, and Physical Activity on Bone Mineral Density in Premenopausal Women. 6
27182309 2009
12
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion. 25
26404457 2016
13
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. 25
26421988 2015
14
Whole exome sequencing of suspected mitochondrial patients in clinical practice. 25
25735936 2015
15
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 25
23385875 2013
16
Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. 61
32559514 2020
17
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13. 61
32416579 2020
18
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
19
Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene. 61
32779419 2020
20
[Mitochondrial DNA depletion syndrome-13: a case with an unusual onset]. 61
31713230 2019
21
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
22
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. 61
30804983 2019
23
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome. 61
31969900 2019

Variations for Mitochondrial Dna Depletion Syndrome 13

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 13:

6 (show top 50) (show all 390)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXL4 NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter) SNV Pathogenic 437492 rs964532159 GRCh37: 6:99365492-99365492
GRCh38: 6:98917616-98917616
2 FBXL4 NM_001278716.2(FBXL4):c.1389+3_1389+6del Deletion Pathogenic 437505 rs1554216735 GRCh37: 6:99328423-99328426
GRCh38: 6:98880547-98880550
3 FBXL4 NM_001278716.2(FBXL4):c.858+1G>T SNV Pathogenic 437502 rs1394080480 GRCh37: 6:99365249-99365249
GRCh38: 6:98917373-98917373
4 FBXL4 NM_001278716.2(FBXL4):c.513-1G>A SNV Pathogenic 437500 rs1554221258 GRCh37: 6:99365596-99365596
GRCh38: 6:98917720-98917720
5 FBXL4 NM_001278716.2(FBXL4):c.859-1G>T SNV Pathogenic 437644 rs368965675 GRCh37: 6:99353547-99353547
GRCh38: 6:98905671-98905671
6 FBXL4 NM_001278716.2(FBXL4):c.627_633del (p.Asn210fs) Deletion Pathogenic 694444 rs1582425360 GRCh37: 6:99365475-99365481
GRCh38: 6:98917599-98917605
7 FBXL4 NM_001278716.2(FBXL4):c.326del (p.Ser109fs) Deletion Pathogenic 437496 rs761215749 GRCh37: 6:99374539-99374539
GRCh38: 6:98926663-98926663
8 FBXL4 NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter) SNV Pathogenic 802253 rs1582425406 GRCh37: 6:99365486-99365486
GRCh38: 6:98917610-98917610
9 FBXL4 NM_001278716.2(FBXL4):c.1687C>T (p.Gln563Ter) SNV Pathogenic 437494 rs1554215964 GRCh37: 6:99323306-99323306
GRCh38: 6:98875430-98875430
10 FBXL4 NM_001278716.2(FBXL4):c.1210C>T (p.Gln404Ter) SNV Pathogenic 437493 rs1187832552 GRCh37: 6:99347251-99347251
GRCh38: 6:98899375-98899375
11 FBXL4 NM_001278716.2(FBXL4):c.273_277del (p.Phe91fs) Deletion Pathogenic 437495 rs766892502 GRCh37: 6:99374588-99374592
GRCh38: 6:98926712-98926716
12 FBXL4 NM_001278716.2(FBXL4):c.1317G>A (p.Glu439=) SNV Pathogenic 437503 rs1554218789 GRCh37: 6:99347144-99347144
GRCh38: 6:98899268-98899268
13 FBXL4 NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter) SNV Pathogenic 437488 rs1182326570 GRCh37: 6:99374759-99374759
GRCh38: 6:98926883-98926883
14 FBXL4 GRCh37/hg19 6q16.1(chr6:99347158-99374801) copy number loss Pathogenic 915991 GRCh37: 6:99347158-99374801
GRCh38:
15 FBXL4 NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) SNV Pathogenic 437490 rs1554222130 GRCh37: 6:99374573-99374573
GRCh38: 6:98926697-98926697
16 FBXL4 NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) Deletion Pathogenic 437499 rs1554215986 GRCh37: 6:99323344-99323345
GRCh38: 6:98875468-98875469
17 FBXL4 NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter) SNV Pathogenic 437491 rs1554222122 GRCh37: 6:99374549-99374549
GRCh38: 6:98926673-98926673
18 FBXL4 NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) SNV Pathogenic 209153 rs200440128 GRCh37: 6:99374801-99374801
GRCh38: 6:98926925-98926925
19 FBXL4 NM_001278716.2(FBXL4):c.618_621dup (p.Glu208fs) Duplication Pathogenic 280414 rs886041625 GRCh37: 6:99365486-99365487
GRCh38: 6:98917610-98917611
20 FBXL4 NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) Deletion Pathogenic 437498 rs1554219474 GRCh37: 6:99353338-99353338
GRCh38: 6:98905462-98905462
21 FBXL4 NM_001278716.2(FBXL4):c.1555C>T (p.Gln519Ter) SNV Pathogenic 66090 rs398123059 GRCh37: 6:99323438-99323438
GRCh38: 6:98875562-98875562
22 FBXL4 NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) SNV Pathogenic 66091 rs201889294 GRCh37: 6:99347158-99347158
GRCh38: 6:98899282-98899282
23 FBXL4 NM_001278716.2(FBXL4):c.1635_1636TG[3] (p.Cys547_Asp548delinsTer) Microsatellite Pathogenic 265143 rs765882664 GRCh37: 6:99323351-99323352
GRCh38: 6:98875475-98875476
24 FBXL4 NM_001278716.2(FBXL4):c.219T>A (p.Tyr73Ter) SNV Pathogenic 437489 rs747536886 GRCh37: 6:99374646-99374646
GRCh38: 6:98926770-98926770
25 FBXL4 NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) SNV Pathogenic/Likely pathogenic 437483 rs1554215959 GRCh37: 6:99323295-99323295
GRCh38: 6:98875419-98875419
26 FBXL4 NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) SNV Pathogenic/Likely pathogenic 66093 rs398123061 GRCh37: 6:99323549-99323549
GRCh38: 6:98875673-98875673
27 FBXL4 NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) SNV Pathogenic/Likely pathogenic 437486 rs201989042 GRCh37: 6:99322230-99322230
GRCh38: 6:98874354-98874354
28 FBXL4 NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) SNV Pathogenic/Likely pathogenic 66092 rs398123060 GRCh37: 6:99322317-99322317
GRCh38: 6:98874441-98874441
29 FBXL4 NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) SNV Pathogenic/Likely pathogenic 437724 rs758395213 GRCh37: 6:99347173-99347173
GRCh38: 6:98899297-98899297
30 FBXL4 NM_001278716.2(FBXL4):c.1304G>T (p.Arg435Leu) SNV Likely pathogenic 437476 rs754142863 GRCh37: 6:99347157-99347157
GRCh38: 6:98899281-98899281
31 FBXL4 NM_001278716.2(FBXL4):c.415_416insTT (p.Ala139fs) Insertion Likely pathogenic 437573 rs767543583 GRCh37: 6:99374449-99374450
GRCh38: 6:98926573-98926574
32 FBXL4 NM_001278716.2(FBXL4):c.1836del (p.Val613fs) Deletion Likely pathogenic 437821 rs751656896 GRCh37: 6:99322184-99322184
GRCh38: 6:98874308-98874308
33 FBXL4 NM_001278716.2(FBXL4):c.1360C>T (p.Gln454Ter) SNV Likely pathogenic 437741 rs750973870 GRCh37: 6:99328458-99328458
GRCh38: 6:98880582-98880582
34 FBXL4 NM_001278716.2(FBXL4):c.370C>T (p.Gln124Ter) SNV Likely pathogenic 437565 rs761974928 GRCh37: 6:99374495-99374495
GRCh38: 6:98926619-98926619
35 FBXL4 NM_001278716.2(FBXL4):c.1229C>T (p.Ser410Phe) SNV Likely pathogenic 437474 rs1554218821 GRCh37: 6:99347232-99347232
GRCh38: 6:98899356-98899356
36 FBXL4 NM_001278716.2(FBXL4):c.1586C>A (p.Ala529Glu) SNV Likely pathogenic 437480 rs1443104983 GRCh37: 6:99323407-99323407
GRCh38: 6:98875531-98875531
37 FBXL4 NM_001278716.2(FBXL4):c.1411G>A (p.Ala471Thr) SNV Likely pathogenic 437478 rs1227524799 GRCh37: 6:99323582-99323582
GRCh38: 6:98875706-98875706
38 FBXL4 NM_001278716.2(FBXL4):c.445G>A (p.Gly149Arg) SNV Likely pathogenic 437470 rs1345325140 GRCh37: 6:99374420-99374420
GRCh38: 6:98926544-98926544
39 FBXL4 NM_001278716.2(FBXL4):c.1772A>G (p.Asp591Gly) SNV Likely pathogenic 437485 rs747618415 GRCh37: 6:99322248-99322248
GRCh38: 6:98874372-98874372
40 FBXL4 NM_001278716.2(FBXL4):c.1694A>G (p.Asp565Gly) SNV Likely pathogenic 66094 rs398123062 GRCh37: 6:99323299-99323299
GRCh38: 6:98875423-98875423
41 FBXL4 NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) SNV Likely pathogenic 375387 rs1057519447 GRCh37: 6:99374446-99374446
GRCh38: 6:98926570-98926570
42 FBXL4 NM_001278716.2(FBXL4):c.417_418insA (p.Val140fs) Insertion Likely pathogenic 437575 rs761902417 GRCh37: 6:99374447-99374448
GRCh38: 6:98926571-98926572
43 FBXL4 NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr) SNV Likely pathogenic 802252 rs995995791 GRCh37: 6:99323320-99323320
GRCh38: 6:98875444-98875444
44 FBXL4 NM_001278716.2(FBXL4):c.614T>C (p.Ile205Thr) SNV Likely pathogenic 437471 rs1350566881 GRCh37: 6:99365494-99365494
GRCh38: 6:98917618-98917618
45 FBXL4 NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) SNV Likely pathogenic 437481 rs1391578014 GRCh37: 6:99323371-99323371
GRCh38: 6:98875495-98875495
46 FBXL4 NM_001278716.2(FBXL4):c.903T>A (p.Cys301Ter) SNV Likely pathogenic 437652 rs775768793 GRCh37: 6:99353502-99353502
GRCh38: 6:98905626-98905626
47 FBXL4 NM_001278716.2(FBXL4):c.1546_1563del (p.Pro516_Ser521del) Deletion Likely pathogenic 235778 rs878853112 GRCh37: 6:99323430-99323447
GRCh38: 6:98875554-98875571
48 FBXL4 NM_001278716.2(FBXL4):c.661G>C (p.Asp221His) SNV Likely pathogenic 437472 rs1554221191 GRCh37: 6:99365447-99365447
GRCh38: 6:98917571-98917571
49 FBXL4 NM_001278716.2(FBXL4):c.858+5G>C SNV Likely pathogenic 437501 rs1257765682 GRCh37: 6:99365245-99365245
GRCh38: 6:98917369-98917369
50 FBXL4 NM_001278716.2(FBXL4):c.662A>T (p.Asp221Val) SNV Likely pathogenic 437473 rs1554221189 GRCh37: 6:99365446-99365446
GRCh38: 6:98917570-98917570

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

72
# 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

Molecular functions related to Mitochondrial Dna Depletion Syndrome 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.62 SLC1A4 SLC13A5

Sources for Mitochondrial Dna Depletion Syndrome 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....