MCID: MTC068
MIFTS: 26

Mitochondrial Complex V Deficiency, Nuclear Type 2

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency, Nuclear Type 2

MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 2:

Name: Mitochondrial Complex V Deficiency, Nuclear Type 2 57 13
Mc5dn2 57 12 75
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency 57 73
Mitochondrial Encephalo-Cardio-Myopathy Due to Isolated Mitochondrial Respiratory Chain Complex V Deficiency 59
Mitochondrial Encephalo-Cardio-Myopathy Due to Isolated Atp Synthase Deficiency 59
Neonatal Mitochondrial Encephalocardiomyopathy Due to Atp Synthase Deficiency 12
Mitochondrial Neonatal Encephalocardiomyopathy Due to Atp Synthase Deficiency 75
Mitochondrial Encephalo-Cardio-Myopathy Due to F1fo Atpase Deficiency 59
Mitochondrial Encephalo-Cardio-Myopathy Due to Tmem70 Deficiency 75
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy 59
Mitochondrial Complex V Deficiency, Nuclear, Type 2 40
Mitochondrial Complex V Deficiency Nuclear Type 2 12
Mitochondrial Complex V Deficiency, Tmem70 Type 57
Mitochondrial Complex V Deficiency Tmem70 Type 75
Mitochondrial Complex V Deficiency, Nuclear 2 75
Mitochondrial Complex V Deficiency Type 2 75

Characteristics:

Orphanet epidemiological data:

59
tmem70-related mitochondrial encephalo-cardio-myopathy
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
variable features and severity
onset at birth or in utero


HPO:

32
mitochondrial complex v deficiency, nuclear type 2:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Mitochondrial Complex V Deficiency, Nuclear Type 2

UniProtKB/Swiss-Prot : 75 Mitochondrial complex V deficiency, nuclear 2: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.

MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 2, also known as mc5dn2, is related to tmem70 defect and sengers syndrome. An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 2 is TMEM70 (Transmembrane Protein 70). Affiliated tissues include kidney, liver and heart, and related phenotypes are low-set ears and seizures

Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the TMEM70 gene on chromosome 8q21.

Description from OMIM: 614052

Related Diseases for Mitochondrial Complex V Deficiency, Nuclear Type 2

Diseases related to Mitochondrial Complex V Deficiency, Nuclear Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tmem70 defect 11.7
2 sengers syndrome 11.6

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency, Nuclear Type 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Face:
long philtrum
flat face
microretrognathia

Laboratory Abnormalities:
increased serum lactate
hyperammonemia
3-methylglutaconic aciduria
increased serum alanine

Genitourinary External Genitalia Male:
hypospadias

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Head And Neck Nose:
broad nasal bridge
upturned nares

Growth Weight:
low birth weight

Head And Neck Eyes:
cataract (in 2 brothers)

Respiratory:
persistent pulmonary hypertension of the newborn
respiratory insufficiency at birth

Growth Other:
failure to thrive
poor growth
intrauterine growth retardation (iugr)

Cardiovascular Heart:
hypertrophic cardiomyopathy
arrhythmias

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Metabolic Features:
lactic acidosis

Head And Neck Head:
flat occiput

Neurologic Central Nervous System:
leukoencephalopathy
hypotonia
delayed psychomotor development
seizures (uncommon)
psychomotor retardation
more
Prenatal Manifestations Delivery:
premature delivery

Abdomen Gastrointestinal:
pseudoobstruction
delayed gastric emptying

Head And Neck Mouth:
thin, flat upper lip

Muscle Soft Tissue:
decreased mitochondrial complex v activity


Clinical features from OMIM:

614052

Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 2:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 Very frequent (99-80%) HP:0000369
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 hypertrophic cardiomyopathy 59 32 Frequent (79-30%) HP:0001639
4 arrhythmia 59 32 Occasional (29-5%) HP:0011675
5 cryptorchidism 59 32 Frequent (79-30%) HP:0000028
6 intrauterine growth retardation 59 32 Frequent (79-30%) HP:0001511
7 hypospadias 59 32 Frequent (79-30%) HP:0000047
8 hyperammonemia 59 32 Very frequent (99-80%) HP:0001987
9 oligohydramnios 59 32 Very frequent (99-80%) HP:0001562
10 3-methylglutaconic aciduria 59 32 Very frequent (99-80%) HP:0003535
11 ataxia 32 HP:0001251
12 muscular hypotonia 59 Very frequent (99-80%)
13 tremor 32 HP:0001337
14 failure to thrive 32 HP:0001508
15 respiratory insufficiency 32 HP:0002093
16 encephalitis 59 Very frequent (99-80%)
17 inguinal hernia 32 HP:0000023
18 cataract 32 occasional (7.5%) HP:0000518
19 global developmental delay 32 HP:0001263
20 hepatomegaly 59 Frequent (79-30%)
21 wide nasal bridge 32 HP:0000431
22 umbilical hernia 32 HP:0001537
23 microcephaly 59 Very frequent (99-80%)
24 anteverted nares 32 HP:0000463
25 flexion contracture 59 Frequent (79-30%)
26 long philtrum 32 HP:0000343
27 retrognathia 59 Frequent (79-30%)
28 death in infancy 59 Frequent (79-30%)
29 congestive heart failure 59 Frequent (79-30%)
30 abnormality of the aortic valve 59 Frequent (79-30%)
31 flat face 32 HP:0012368
32 growth delay 59 Frequent (79-30%)
33 cerebral cortical atrophy 59 Frequent (79-30%)
34 increased serum lactate 32 HP:0002151
35 gastroparesis 32 HP:0002578
36 lactic acidosis 32 HP:0003128
37 intellectual disability, moderate 59 Very frequent (99-80%)
38 wide mouth 59 Frequent (79-30%)
39 short philtrum 59 Very frequent (99-80%)
40 abnormality of the kidney 59 Occasional (29-5%)
41 respiratory failure 59 Frequent (79-30%)
42 abnormality of the pulmonary valve 59 Frequent (79-30%)
43 flat occiput 32 HP:0005469
44 microretrognathia 32 HP:0000308
45 camptodactyly of finger 59 Frequent (79-30%)
46 moderate global developmental delay 59 Very frequent (99-80%)
47 aplasia/hypoplasia of the corpus callosum 59 Frequent (79-30%)
48 premature birth 32 HP:0001622
49 encephalopathy 32 HP:0001298
50 generalized hypotonia 32 HP:0001290

Drugs & Therapeutics for Mitochondrial Complex V Deficiency, Nuclear Type 2

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex V Deficiency, Nuclear Type 2

Genetic Tests for Mitochondrial Complex V Deficiency, Nuclear Type 2

Anatomical Context for Mitochondrial Complex V Deficiency, Nuclear Type 2

MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 2:

41
Kidney, Liver, Heart

Publications for Mitochondrial Complex V Deficiency, Nuclear Type 2

Variations for Mitochondrial Complex V Deficiency, Nuclear Type 2

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 2:

75
# Symbol AA change Variation ID SNP ID
1 TMEM70 p.Thr210Pro VAR_068847

ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 2:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM70 NM_017866.5(TMEM70): c.317-2A> G single nucleotide variant Pathogenic rs183973249 GRCh37 Chromosome 8, 74893388: 74893388
2 TMEM70 NM_017866.5(TMEM70): c.317-2A> G single nucleotide variant Pathogenic rs183973249 GRCh38 Chromosome 8, 73981153: 73981153
3 TMEM70 TMEM70, 2-BP INS, 118GT insertion Pathogenic
4 TMEM70 TMEM70, TYR112TER single nucleotide variant Pathogenic
5 TMEM70 NM_001040613.2(TMEM70): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic rs387907070 GRCh37 Chromosome 8, 74891018: 74891018
6 TMEM70 NM_001040613.2(TMEM70): c.238C> T (p.Arg80Ter) single nucleotide variant Pathogenic rs387907070 GRCh38 Chromosome 8, 73978783: 73978783
7 TMEM70 TMEM70, 2-BP DEL, 578CA deletion Pathogenic
8 TMEM70 NM_017866.5(TMEM70): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151104827 GRCh38 Chromosome 8, 73981568: 73981568
9 TMEM70 NM_017866.5(TMEM70): c.730A> G (p.Ile244Val) single nucleotide variant Conflicting interpretations of pathogenicity rs151104827 GRCh37 Chromosome 8, 74893803: 74893803
10 TMEM70 NM_017866.5(TMEM70): c.580G> A (p.Val194Met) single nucleotide variant Benign rs77410280 GRCh37 Chromosome 8, 74893653: 74893653
11 TMEM70 NM_017866.5(TMEM70): c.580G> A (p.Val194Met) single nucleotide variant Benign rs77410280 GRCh38 Chromosome 8, 73981418: 73981418
12 TMEM70 NM_017866.5(TMEM70): c.718_721delAAAG (p.Glu241Asnfs) deletion Likely pathogenic rs746973761 GRCh37 Chromosome 8, 74893791: 74893794
13 TMEM70 NM_017866.5(TMEM70): c.718_721delAAAG (p.Glu241Asnfs) deletion Likely pathogenic rs746973761 GRCh38 Chromosome 8, 73981556: 73981559
14 TMEM70 NM_017866.5(TMEM70): c.462C> A (p.Ile154=) single nucleotide variant Conflicting interpretations of pathogenicity rs143954787 GRCh37 Chromosome 8, 74893535: 74893535
15 TMEM70 NM_017866.5(TMEM70): c.462C> A (p.Ile154=) single nucleotide variant Conflicting interpretations of pathogenicity rs143954787 GRCh38 Chromosome 8, 73981300: 73981300
16 TMEM70 NM_017866.5(TMEM70): c.128G> A (p.Ser43Asn) single nucleotide variant Uncertain significance rs199815125 GRCh37 Chromosome 8, 74888644: 74888644
17 TMEM70 NM_017866.5(TMEM70): c.128G> A (p.Ser43Asn) single nucleotide variant Uncertain significance rs199815125 GRCh38 Chromosome 8, 73976409: 73976409
18 TMEM70 NM_017866.5(TMEM70): c.534T> C (p.Thr178=) single nucleotide variant Conflicting interpretations of pathogenicity rs139864454 GRCh37 Chromosome 8, 74893607: 74893607
19 TMEM70 NM_017866.5(TMEM70): c.534T> C (p.Thr178=) single nucleotide variant Conflicting interpretations of pathogenicity rs139864454 GRCh38 Chromosome 8, 73981372: 73981372
20 TMEM70 NM_017866.5(TMEM70): c.97C> A (p.Arg33=) single nucleotide variant Likely benign rs145329086 GRCh37 Chromosome 8, 74888613: 74888613
21 TMEM70 NM_017866.5(TMEM70): c.97C> A (p.Arg33=) single nucleotide variant Likely benign rs145329086 GRCh38 Chromosome 8, 73976378: 73976378
22 TMEM70 NM_017866.5(TMEM70): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs143292919 GRCh38 Chromosome 8, 73978759: 73978759
23 TMEM70 NM_017866.5(TMEM70): c.214C> T (p.Pro72Ser) single nucleotide variant Uncertain significance rs143292919 GRCh37 Chromosome 8, 74890994: 74890994
24 TMEM70 NM_017866.5(TMEM70): c.499G> A (p.Val167Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 73981337: 73981337
25 TMEM70 NM_017866.5(TMEM70): c.499G> A (p.Val167Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 74893572: 74893572
26 TMEM70 NM_017866.5(TMEM70): c.738T> C (p.Tyr246=) single nucleotide variant Likely benign rs567090474 GRCh38 Chromosome 8, 73981576: 73981576
27 TMEM70 NM_017866.5(TMEM70): c.738T> C (p.Tyr246=) single nucleotide variant Likely benign rs567090474 GRCh37 Chromosome 8, 74893811: 74893811
28 TMEM70 NM_017866.5(TMEM70): c.500T> C (p.Val167Ala) single nucleotide variant Uncertain significance rs1010253072 GRCh38 Chromosome 8, 73981338: 73981338
29 TMEM70 NM_017866.5(TMEM70): c.500T> C (p.Val167Ala) single nucleotide variant Uncertain significance rs1010253072 GRCh37 Chromosome 8, 74893573: 74893573
30 TMEM70 NM_017866.5(TMEM70): c.373_374insT (p.Thr127Tyrfs) insertion Pathogenic GRCh37 Chromosome 8, 74893447: 74893447
31 TMEM70 NM_017866.5(TMEM70): c.373_374insT (p.Thr127Tyrfs) insertion Pathogenic GRCh38 Chromosome 8, 73981211: 73981212
32 TMEM70 NM_017866.5(TMEM70): c.152G> T (p.Gly51Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 73976433: 73976433
33 TMEM70 NM_017866.5(TMEM70): c.152G> T (p.Gly51Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 74888668: 74888668

Expression for Mitochondrial Complex V Deficiency, Nuclear Type 2

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Pathways for Mitochondrial Complex V Deficiency, Nuclear Type 2

GO Terms for Mitochondrial Complex V Deficiency, Nuclear Type 2

Sources for Mitochondrial Complex V Deficiency, Nuclear Type 2

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