MEGDEL
MCID: 3MT013
MIFTS: 45

3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome (MEGDEL)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

MalaCards integrated aliases for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

Name: 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 57 12 43 72 29 13 6 15 70
Megdel Syndrome 12 20 43 58
Megdel 57 12 72
Mgca6 57 12 72
3-Methylglutaconic Aciduria with Dystonia-Deafness, Hepatopathy, Encephalopathy, and Leigh-Like Syndrome 57 72
3-Methylglutaconic Aciduria, Type Vi 57 72
Serac1 Defect 20 43
Megdhel 57 72
3-Methylglutaconic Aciduria with Dystonia-Deafness, Hepatopathy, Encephalopathy, and Leigh-Like Syndrome; Megdhel 57
3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy, and Leigh-Like Syndrome 43
3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy and Leigh-Like Syndrome 70
3-Methylglutaconic Aciduria with Hearing Loss-Encephalopathy-Leigh-Like Syndrome 58
3-Methylglutaconic Aciduria with Deafness, Encephalopathy, Leigh-Like Syndrome 39
3-Methylglutaconic Aciduria with Deafness-Encephalopathy-Leigh-Like Syndrome 58
3-Methylglutaconic Aciduria, Type Vi; Mgca6 57
3-Methylglutaconic Aciduria Type Vi 20
3-Methylglutaconic Aciduria Type 6 12
Megdhel Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
megdel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
variable severity
onset in infancy or early childhood
there are estimated to be 27 affected children born worldwide each year
one family with a milder disorder without deafness has been reported (last curated february 2018)


HPO:

31
3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

MedlinePlus Genetics : 43 MEGDEL syndrome is an inherited disorder that affects multiple body systems. It is named for several of its features: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E), and Leigh-like disease (L).MEGDEL syndrome is characterized by abnormally high levels of an acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome is one of a group of metabolic disorders that can be diagnosed by presence of this feature. People with MEGDEL syndrome also have high urine levels of another acid called 3-methylglutaric acid.In infancy, individuals with MEGDEL syndrome develop hearing loss caused by changes in the inner ear (sensorineural deafness); the hearing problems gradually worsen over time.Another feature of MEGDEL syndrome is brain dysfunction (encephalopathy). In infancy, encephalopathy leads to difficulty feeding, an inability to grow and gain weight at the expected rate (failure to thrive), and weak muscle tone (hypotonia). Infants with MEGDEL syndrome later develop involuntary muscle tensing (dystonia) and muscle stiffness (spasticity), which worsen over time. Because of these brain and muscle problems, affected babies have delayed development of mental and movement abilities (psychomotor delay), or they may lose skills they already developed. Individuals with MEGDEL syndrome have intellectual disability and never learn to speak.People with MEGDEL syndrome have changes in the brain that resemble those in another condition called Leigh syndrome. These changes, which can be seen with medical imaging, are referred to as Leigh-like disease.Other features that occur commonly in MEGDEL syndrome include low blood sugar (hypoglycemia) in affected newborns; liver problems (hepatopathy) in infancy, which can be serious but improve by early childhood; and episodes of abnormally high amounts of lactic acid in the blood (lactic acidosis).The life expectancy of individuals with MEGDEL syndrome is unknown. Because of the severe health problems caused by the disorder, some affected individuals do not survive past infancy.

MalaCards based summary : 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome, also known as megdel syndrome, is related to 3-methylglutaconic aciduria, type iv and barth syndrome, and has symptoms including abnormality of extrapyramidal motor function and muscle spasticity. An important gene associated with 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome is SERAC1 (Serine Active Site Containing 1), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include brain, liver and kidney, and related phenotypes are microcephaly and seizure

Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.

OMIM® : 57 MEGDEL is an autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome (256000). Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells (summary by Wortmann et al., 2012). About 50% of patients develop severe, but transient, liver dysfunction and/or signs of liver failure, in the neonatal period or during the first year of life, prompting some authors to suggest the name 'MEGDHEL' syndrome, with the 'H' referring to 'hepatopathy' (summary by Maas et al., 2017). Some patients may have a milder presentation with juvenile-onset spasticity and mild cognitive impairment, indicating a broader phenotypic spectrum (Roeben et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (614739) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells.

Related Diseases for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Diseases related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iv 29.6 TMEM70 SUCLA2 SERAC1 OPA3 AUH
2 barth syndrome 29.2 TMEM70 TAFAZZIN SERAC1 OPA3 DNAJC19 DDHD1
3 leigh syndrome 29.1 TMEM70 SUCLA2 SERAC1 POLG MPV17 ATPAF2
4 3-methylglutaconic aciduria, type i 29.0 TMEM70 TIMM50 SERAC1 OPA3 DNAJC19 CLPB
5 3-methylglutaconic aciduria 28.8 TMEM70 TIMM50 TAFAZZIN SERAC1 OPA3 DNAJC19
6 lactic acidosis 28.8 TAFAZZIN POLG AUH APOO AGK
7 3-methylglutaconic aciduria, type iii 27.2 TMEM70 TIMM50 TAFAZZIN SUCLA2 SERAC1 POLG
8 branchiootic syndrome 1 10.4
9 mitochondrial complex v deficiency, nuclear type 5 10.3 TMEM70 AGK
10 spastic paraplegia 49, autosomal recessive 10.2 DDHD2 DDHD1
11 dystonia 10.2
12 spastic paraplegia 73, autosomal dominant 10.2 DDHD2 DDHD1
13 optic atrophy 9 10.2 SUCLA2 OPA3
14 spastic paraplegia 28, autosomal recessive 10.2 DDHD2 DDHD1
15 spastic paraplegia 54, autosomal recessive 10.2 DDHD2 DDHD1
16 spastic paraplegia 39, autosomal recessive 10.2 DDHD2 DDHD1
17 encephalopathy 10.2
18 hypotonia 10.2
19 amino acid metabolic disorder 10.2 SERAC1 OPA3 DNAJC19
20 fumarase deficiency 10.2 TMEM70 SUCLA2
21 isolated atp synthase deficiency 10.1 TMEM70 ATPAF2
22 serac1 deficiency 10.1
23 spastic paraplegia 56, autosomal recessive 10.1 DDHD2 DDHD1
24 spasticity 10.1
25 lenz-majewski hyperostotic dwarfism 10.0 SERAC1 DDHD2 DDHD1 CHKB
26 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 SERAC1 DDHD2 DDHD1 CHKB
27 encephalopathy, ethylmalonic 10.0 TMEM70 MPV17
28 autosomal recessive disease 10.0
29 microcephaly 10.0
30 hypoglycemia 10.0
31 marinesco-sjogren syndrome 9.9 POLG OPA3
32 neuropathy, ataxia, and retinitis pigmentosa 9.9 POLG ATPAF2
33 pearson marrow-pancreas syndrome 9.9 POLG MPV17
34 obesity due to melanocortin 4 receptor deficiency 9.9 POLG DDHD2
35 endocardial fibroelastosis 9.9 TAFAZZIN DNAJC19
36 mitochondrial dna depletion syndrome 1 9.9 POLG MPV17
37 gastroesophageal reflux 9.8
38 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
39 metabolic acidosis 9.8
40 scoliosis 9.8
41 sensorineural hearing loss 9.8
42 epilepsy 9.8
43 constipation 9.8
44 early myoclonic encephalopathy 9.8
45 liver disease 9.8
46 movement disease 9.8
47 kidney disease 9.8
48 inherited metabolic disorder 9.8
49 retinal degeneration 9.8
50 clpb deficiency 9.8

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:



Diseases related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Human phenotypes related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 seizure 31 occasional (7.5%) HP:0001250
3 intellectual disability 31 HP:0001249
4 spasticity 31 HP:0001257
5 failure to thrive 31 HP:0001508
6 developmental regression 31 HP:0002376
7 global developmental delay 31 HP:0001263
8 sensorineural hearing impairment 31 HP:0000407
9 optic atrophy 31 HP:0000648
10 hypoglycemia 31 HP:0001943
11 absent speech 31 HP:0001344
12 increased serum lactate 31 HP:0002151
13 abnormality of extrapyramidal motor function 31 HP:0002071
14 dystonia 31 HP:0001332
15 hyperammonemia 31 HP:0001987
16 encephalopathy 31 HP:0001298
17 lactic acidosis 31 HP:0003128
18 feeding difficulties 31 HP:0011968
19 cerebellar atrophy 31 HP:0001272
20 recurrent infections 31 HP:0002719
21 psychomotor retardation 31 HP:0025356
22 generalized hypotonia 31 HP:0001290
23 brain atrophy 31 HP:0012444
24 inability to walk 31 HP:0002540
25 3-methylglutaconic aciduria 31 HP:0003535
26 abnormality of the coagulation cascade 31 HP:0003256
27 neonatal sepsis 31 HP:0040187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dystonia
cerebellar atrophy
psychomotor retardation
brain atrophy
more
Head And Neck Eyes:
optic atrophy

Laboratory Abnormalities:
increased serum lactate
hyperammonemia
3-methylglutaconic aciduria
defects in mitochondrial oxidative phosphorylation
abnormal phospholipid profile
more
Muscle Soft Tissue:
hypotonia
degrading mitochondria

Abdomen Gastrointestinal:
feeding problems

Head And Neck Mouth:
oropharyngeal dyskinesia

Growth Other:
failure to thrive

Metabolic Features:
hypoglycemia
lactic acidosis

Immunology:
recurrent infections
neonatal sepsis

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Head:
microcephaly (1 patient)

Abdomen Liver:
hepatic dysfunction, neonatal period (48%)
liver failure, neonatal period (in some patients), reversible

Clinical features from OMIM®:

614739 (Updated 20-May-2021)

UMLS symptoms related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:


abnormality of extrapyramidal motor function; muscle spasticity

MGI Mouse Phenotypes related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.23 ATPAF2 AUH CHKB DDHD1 MPV17 OPA3

Drugs & Therapeutics for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome

Genetic Tests for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Genetic tests related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 29 SERAC1

Anatomical Context for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

40
Brain, Liver, Kidney, Pancreas

Publications for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Articles related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

(show all 32)
# Title Authors PMID Year
1
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. 61 57 6
28916646 2018
2
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. 6 57 61
23707711 2013
3
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 6 57 61
22683713 2012
4
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. 6 57
16527507 2006
5
[MEGDEL syndrome with an SERAC1 mutation: a case report]. 61 6
28482397 2017
6
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations. 6 61
24997715 2014
7
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. 57 61
23918762 2013
8
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
9
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
10
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. 57
29205472 2017
11
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. 6
25016221 2014
12
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. 57
19015156 2009
13
[Clinical and molecular genetic analysis of a case of MEGDEL syndrome]. 61
33751540 2021
14
MEGDEL Syndrome. 61
32684373 2020
15
Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome. 61
33613893 2020
16
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. 61
32346411 2020
17
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders. 61
33629063 2020
18
Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability. 61
28778788 2018
19
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome. 61
29971201 2018
20
Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. 61
29686941 2018
21
MEGDEL Syndrome: Expanding the Phenotype and New Mutations. 61
28505671 2017
22
Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome. 61
27229007 2016
23
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome. 61
27331002 2016
24
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking. 61
26445863 2016
25
Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation. 61
27186703 2015
26
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene. 61
25051967 2015
27
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. 61
25642805 2015
28
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 61
25595726 2015
29
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
30
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. 61
24757000 2014
31
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 61
23296368 2013
32
Mutations in the phospholipid remodeling gene SERAC1 cause MEGDEL syndrome. 61
23401890 2012

Variations for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERAC1 NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) Deletion Pathogenic 35558 rs772296795 GRCh37: 6:158540199-158540202
GRCh38: 6:158119167-158119170
2 SERAC1 NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) Microsatellite Pathogenic 35559 rs1199625391 GRCh37: 6:158537281-158537283
GRCh38: 6:158116249-158116251
3 SERAC1 NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) Microsatellite Pathogenic 215148 rs767780913 GRCh37: 6:158535875-158535876
GRCh38: 6:158114843-158114844
4 SERAC1 NM_032861.4(SERAC1):c.1403+1G>C SNV Pathogenic 430610 rs1131690799 GRCh37: 6:158538758-158538758
GRCh38: 6:158117726-158117726
5 SERAC1 NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) Duplication Pathogenic 430608 rs761964407 GRCh37: 6:158535858-158535859
GRCh38: 6:158114826-158114827
6 SERAC1 NM_032861.4(SERAC1):c.92-239G>C SNV Pathogenic 587693 rs1562458915 GRCh37: 6:158576622-158576622
GRCh38: 6:158155590-158155590
7 SERAC1 NM_032861.4(SERAC1):c.92-165C>T SNV Pathogenic 587699 rs1562458862 GRCh37: 6:158576548-158576548
GRCh38: 6:158155516-158155516
8 SERAC1 NM_032861.4(SERAC1):c.438del (p.Thr147fs) Deletion Pathogenic 689786 rs1583595091 GRCh37: 6:158567863-158567863
GRCh38: 6:158146831-158146831
9 SERAC1 NM_032861.4(SERAC1):c.916C>T (p.Arg306Ter) SNV Pathogenic 869397 GRCh37: 6:158549239-158549239
GRCh38: 6:158128207-158128207
10 SERAC1 GRCh37/hg19 6q25.3(chr6:158567861-158571603) copy number loss Pathogenic 916006 GRCh37: 6:158567861-158571603
GRCh38:
11 SERAC1 NM_032861.4(SERAC1):c.1126C>T (p.Gln376Ter) SNV Pathogenic 215142 rs199632531 GRCh37: 6:158541497-158541497
GRCh38: 6:158120465-158120465
12 SERAC1 NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) SNV Pathogenic 35556 rs387907236 GRCh37: 6:158567859-158567859
GRCh38: 6:158146827-158146827
13 SERAC1 NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr) SNV Pathogenic/Likely pathogenic 653652 rs201941476 GRCh37: 6:158537225-158537225
GRCh38: 6:158116193-158116193
14 SERAC1 NM_032861.4(SERAC1):c.698T>A (p.Leu233Ter) SNV Likely pathogenic 804398 rs1583589537 GRCh37: 6:158564128-158564128
GRCh38: 6:158143096-158143096
15 SERAC1 NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) SNV Likely pathogenic 120184 rs529232938 GRCh37: 6:158571548-158571548
GRCh38: 6:158150516-158150516
16 SERAC1 NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) Duplication Likely pathogenic 208610 rs797045105 GRCh37: 6:158571484-158571485
GRCh38: 6:158150452-158150453
17 SERAC1 NM_032861.4(SERAC1):c.91+6T>C SNV Likely pathogenic 488592 rs1554265452 GRCh37: 6:158579299-158579299
GRCh38: 6:158158267-158158267
18 SERAC1 NM_032861.4(SERAC1):c.308_311del (p.Arg103fs) Deletion Likely pathogenic 982129 GRCh37: 6:158569941-158569944
GRCh38: 6:158148909-158148912
19 SERAC1 NM_032861.4(SERAC1):c.1763del (p.Val588fs) Deletion Conflicting interpretations of pathogenicity 1031004 GRCh37: 6:158534546-158534546
GRCh38: 6:158113514-158113514
20 SERAC1 NM_032861.4(SERAC1):c.1823dup (p.Ala609fs) Duplication Conflicting interpretations of pathogenicity 938842 GRCh37: 6:158534485-158534486
GRCh38: 6:158113453-158113454
21 SERAC1 NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln) SNV Uncertain significance 215140 rs863224200 GRCh37: 6:158567888-158567888
GRCh38: 6:158146856-158146856
22 SERAC1 NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu) SNV Uncertain significance 960827 GRCh37: 6:158565416-158565416
GRCh38: 6:158144384-158144384
23 SERAC1 NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys) SNV Uncertain significance 966020 GRCh37: 6:158534621-158534621
GRCh38: 6:158113589-158113589
24 SERAC1 NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) SNV Uncertain significance 215139 rs139301835 GRCh37: 6:158579375-158579375
GRCh38: 6:158158343-158158343
25 SERAC1 NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe) SNV Uncertain significance 841105 GRCh37: 6:158549223-158549223
GRCh38: 6:158128191-158128191
26 SERAC1 NM_032861.4(SERAC1):c.1016-5A>G SNV Uncertain significance 850009 GRCh37: 6:158541612-158541612
GRCh38: 6:158120580-158120580
27 SERAC1 NM_032861.4(SERAC1):c.1404-3C>G SNV Uncertain significance 857193 GRCh37: 6:158537317-158537317
GRCh38: 6:158116285-158116285
28 SERAC1 NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met) SNV Uncertain significance 858150 GRCh37: 6:158535967-158535967
GRCh38: 6:158114935-158114935
29 SERAC1 NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn) SNV Uncertain significance 862928 GRCh37: 6:158538787-158538787
GRCh38: 6:158117755-158117755
30 SERAC1 NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly) SNV Uncertain significance 864616 GRCh37: 6:158567883-158567883
GRCh38: 6:158146851-158146851
31 SERAC1 NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met) SNV Uncertain significance 864744 GRCh37: 6:158540077-158540077
GRCh38: 6:158119045-158119045
32 SERAC1 NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) SNV Uncertain significance 446407 rs1554261079 GRCh37: 6:158535928-158535928
GRCh38: 6:158114896-158114896
33 SERAC1 NM_032861.4(SERAC1):c.660A>G (p.Gln220=) SNV Uncertain significance 540444 rs776026202 GRCh37: 6:158564166-158564166
GRCh38: 6:158143134-158143134
34 SERAC1 NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe) SNV Uncertain significance 573228 rs537530231 GRCh37: 6:158541539-158541539
GRCh38: 6:158120507-158120507
35 SERAC1 NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly) SNV Uncertain significance 575862 rs146896149 GRCh37: 6:158579305-158579305
GRCh38: 6:158158273-158158273
36 SERAC1 NM_032861.4(SERAC1):c.92-13_92-10del Deletion Uncertain significance 623345 rs779302645 GRCh37: 6:158576393-158576396
GRCh38: 6:158155361-158155364
37 SERAC1 NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys) SNV Uncertain significance 645684 rs1020569740 GRCh37: 6:158534544-158534544
GRCh38: 6:158113512-158113512
38 SERAC1 NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly) SNV Uncertain significance 593132 rs375757326 GRCh37: 6:158564152-158564152
GRCh38: 6:158143120-158143120
39 SERAC1 NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys) SNV Uncertain significance 652792 rs564717592 GRCh37: 6:158565372-158565372
GRCh38: 6:158144340-158144340
40 SERAC1 NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met) SNV Uncertain significance 1051419 GRCh37: 6:158540074-158540074
GRCh38: 6:158119042-158119042
41 SERAC1 NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val) SNV Uncertain significance 1057290 GRCh37: 6:158535845-158535845
GRCh38: 6:158114813-158114813
42 SERAC1 NM_032861.4(SERAC1):c.488-3T>G SNV Uncertain significance 1057801 GRCh37: 6:158565455-158565455
GRCh38: 6:158144423-158144423
43 SERAC1 NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg) SNV Uncertain significance 1058992 GRCh37: 6:158549224-158549224
GRCh38: 6:158128192-158128192
44 SERAC1 NM_032861.4(SERAC1):c.1762G>A (p.Val588Met) SNV Uncertain significance 1025302 GRCh37: 6:158534547-158534547
GRCh38: 6:158113515-158113515
45 SERAC1 NM_032861.4(SERAC1):c.1828+3A>G SNV Uncertain significance 1031524 GRCh37: 6:158534478-158534478
GRCh38: 6:158113446-158113446
46 SERAC1 NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu) SNV Uncertain significance 1031525 GRCh37: 6:158549220-158549220
GRCh38: 6:158128188-158128188
47 SERAC1 NM_032861.4(SERAC1):c.1640G>A (p.Arg547His) SNV Uncertain significance 1045240 GRCh37: 6:158535865-158535865
GRCh38: 6:158114833-158114833
48 SERAC1 NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln) SNV Uncertain significance 871033 GRCh37: 6:158571547-158571547
GRCh38: 6:158150515-158150515
49 SERAC1 NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser) SNV Uncertain significance 1034742 GRCh37: 6:158538798-158538798
GRCh38: 6:158117766-158117766
50 SERAC1 NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg) SNV Uncertain significance 215150 rs147085187 GRCh37: 6:158567910-158567910
GRCh38: 6:158146878-158146878

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 SERAC1 p.Gly401Asp VAR_068442
2 SERAC1 p.Gly404Glu VAR_068443
3 SERAC1 p.Ser498Thr VAR_068445 rs201941476

Expression for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome.

Pathways for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Pathways related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 TIMM50 TAFAZZIN DNAJC19

GO Terms for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

Cellular components related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.5 TMEM70 TIMM50 TAFAZZIN MPV17 DNAJC19 APOO
2 mitochondrion GO:0005739 9.47 TMEM70 TIMM50 TAFAZZIN SUCLA2 SERAC1 POLG

Biological processes related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cristae formation GO:0042407 9.32 TAFAZZIN APOO
2 protein import into mitochondrial matrix GO:0030150 9.26 TIMM50 DNAJC19
3 inner mitochondrial membrane organization GO:0007007 9.16 TAFAZZIN APOO
4 positive regulation of mitochondrial fission GO:0090141 8.96 DDHD2 DDHD1
5 glycerophospholipid biosynthetic process GO:0046474 8.62 CHKB AGK

Molecular functions related to 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase activity GO:0004620 8.62 DDHD2 DDHD1

Sources for 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and...

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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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
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