ECHS1D
MCID: MTC108
MIFTS: 32

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency (ECHS1D)

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

Aliases & Classifications for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

MalaCards integrated aliases for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

Name: Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 57 25 20 72 29 6
Echs1d 57 25 20 72
Enoyl-Coa Hydratase 1 Deficiency, Short-Chain, Mitochondrial 39
Mitochondrial Short-Chain Enoyl-Coa Hydratase Deficiency 25
Short-Chain Enoyl-Coa Hydratase Deficiency 20
Echs1 Deficiency 25
Sceh Deficiency 25

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or infancy
severe disorder
exacerbation or regression during viral infection


HPO:

31
mitochondrial short-chain enoyl-coa hydratase 1 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

GARD : 20 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency is an inborn error of metabolism characterized by delayed psychomotor development, neurological degeneration, increased lactic acid, and brain lesions in structures of the brain known as the basal ganglia. It is one subtype of Leigh-Like syndrome. Only a few cases have being reported. Symptoms may include delayed motor and speech development, hearing problems, poor muscle tone ( hypotonia ), poor suck, and sporadic lack of breath (apnea). Other symptoms reported include abnormal eye movements ( nystagmus ), heart defects, brain anomalies, and abnormal movements. This condition is caused by mutations in the ECHS1 gene. It is inherited in an autosomal recessive pattern. There is only supportive treatment for the symptoms.

MalaCards based summary : Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency, also known as echs1d, is related to lactic acidosis and leigh syndrome. An important gene associated with Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency is ECHS1 (Enoyl-CoA Hydratase, Short Chain 1). Affiliated tissues include brain and eye, and related phenotypes are hearing impairment and ventricular septal defect

OMIM® : 57 Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014). (616277) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency: A severe, autosomal recessive inborn error affecting valine metabolism. Disease features include brain lesions in the basal ganglia, neurodegeneration, delayed psychomotor development, hypotonia, spasticity, and increased lactic acid in serum and cerebral serum fluid.

GeneReviews: NBK542806

Related Diseases for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Graphical network of the top 20 diseases related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:



Diseases related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Symptoms & Phenotypes for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Human phenotypes related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 ventricular septal defect 31 occasional (7.5%) HP:0001629
3 spasticity 31 HP:0001257
4 nystagmus 31 HP:0000639
5 global developmental delay 31 HP:0001263
6 increased serum lactate 31 HP:0002151
7 apnea 31 HP:0002104
8 dystonia 31 HP:0001332
9 increased csf lactate 31 HP:0002490
10 generalized hypotonia 31 HP:0001290
11 decreased activity of the pyruvate dehydrogenase complex 31 HP:0002928

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dystonia
delayed psychomotor development, severe
abnormal t2-weighted hyperintensities in the basal ganglia consistent with leigh syndrome

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
increased 3-methylglutaconic acid
increased urinary glyoxylate (1 patient)
secondarily decreased activity of the pyruvate dehydrogenase complex (pdc)
more
Respiratory:
apnea, episodic

Cardiovascular Heart:
ventricular septal defect (in some patient)
obstructive hypertrophic cardiomyopathy (1 patient)

Head And Neck Eyes:
nystagmus

Muscle Soft Tissue:
hypotonia
secondarily decreased activities of mitochondrial respiratory enzymes (1 patient)

Head And Neck Ears:
hearing impairment (1 patient)

Clinical features from OMIM®:

616277 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Search Clinical Trials , NIH Clinical Center for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Genetic Tests for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Genetic tests related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 29 ECHS1

Anatomical Context for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

MalaCards organs/tissues related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

40
Brain, Eye

Publications for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Articles related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

(show all 25)
# Title Authors PMID Year
1
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. 6 57 25
29575569 2018
2
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion. 6 25 57
26251176 2015
3
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. 57 25 6
26099313 2015
4
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. 57 25 6
26000322 2015
5
ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome. 57 25 6
25393721 2015
6
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. 6 25 57
25125611 2014
7
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
8
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. 61 25
29882869 2018
9
A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. 61 25
27905109 2017
10
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
11
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. 61 25
26920905 2016
12
Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. 25
29923089 2019
13
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome. 25
30029642 2018
14
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up. 25
28755360 2018
15
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 25
28409271 2017
16
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. 25
28202214 2017
17
ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. 25
28039521 2017
18
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis. 25
27221955 2016
19
Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. 25
27090768 2016
20
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 25
26163321 2015
21
Clinical and biochemical characterization of four patients with mutations in ECHS1. 25
26081110 2015
22
A modern approach to the treatment of mitochondrial disease. 25
19891905 2009
23
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings. 61
33139125 2021
24
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. 61
32677908 2020
25
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency 61
31219693 2019

Variations for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

ClinVar genetic disease variations for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ECHS1 NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) SNV Pathogenic 187859 rs786204001 GRCh37: 10:135182468-135182468
GRCh38: 10:133368964-133368964
2 ECHS1 NM_004092.4(ECHS1):c.414+3G>C SNV Pathogenic 187860 rs786204002 GRCh37: 10:135183405-135183405
GRCh38: 10:133369901-133369901
3 ECHS1 NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) SNV Pathogenic 218890 rs201865375 GRCh37: 10:135184174-135184174
GRCh38: 10:133370670-133370670
4 ECHS1 NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) SNV Pathogenic 218891 rs864309656 GRCh37: 10:135183409-135183409
GRCh38: 10:133369905-133369905
5 ECHS1 NC_000010.10:g.(?_135175966)_(135180498_135182426)del Deletion Pathogenic 397547 GRCh37: 10:135175966-135182426
GRCh38: 10:133362462-133368922
6 ECHS1 NM_004092.4(ECHS1):c.161G>A (p.Arg54His) SNV Pathogenic 802642 rs375266808 GRCh37: 10:135184189-135184189
GRCh38: 10:133370685-133370685
7 ECHS1 NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln) SNV Pathogenic 972720 GRCh37: 10:135184121-135184121
GRCh38: 10:133370617-133370617
8 ECHS1 NM_004092.4(ECHS1):c.713C>T (p.Ala238Val) SNV Pathogenic 972723 GRCh37: 10:135179506-135179506
GRCh38: 10:133366002-133366002
9 ECHS1 NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly) SNV Pathogenic 981051 GRCh37: 10:135182474-135182474
GRCh38: 10:133368970-133368970
10 ECHS1 NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) SNV Pathogenic 156433 rs587776497 GRCh37: 10:135186836-135186836
GRCh38: 10:133373332-133373332
11 ECHS1 NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) Duplication Pathogenic 488496 rs1554885530 GRCh37: 10:135176387-135176388
GRCh38: 10:133362883-133362884
12 ECHS1 NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) SNV Pathogenic 488499 rs770931871 GRCh37: 10:135183428-135183428
GRCh38: 10:133369924-133369924
13 ECHS1 NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) SNV Pathogenic 488500 rs1554886769 GRCh37: 10:135186764-135186764
GRCh38: 10:133373260-133373260
14 ECHS1 NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) SNV Pathogenic 156434 rs587776498 GRCh37: 10:135186833-135186833
GRCh38: 10:133373329-133373329
15 ECHS1 NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs) Deletion Pathogenic 418830 rs777218310 GRCh37: 10:135183411-135183412
GRCh38: 10:133369907-133369908
16 ECHS1 NM_004092.4(ECHS1):c.121_122AG[1] (p.Gly42fs) Microsatellite Pathogenic 802643 rs746519257 GRCh37: 10:135184226-135184227
GRCh38: 10:133370722-133370723
17 ECHS1 NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) SNV Pathogenic 802641 rs761989177 GRCh37: 10:135180429-135180429
GRCh38: 10:133366925-133366925
18 ECHS1 NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) SNV Pathogenic 372596 rs565090080 GRCh37: 10:135176428-135176428
GRCh38: 10:133362924-133362924
19 ECHS1 NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) SNV Pathogenic/Likely pathogenic 691284 rs557128093 GRCh37: 10:135180474-135180474
GRCh38: 10:133366970-133366970
20 ECHS1 NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) SNV Pathogenic/Likely pathogenic 377257 rs150321966 GRCh37: 10:135180494-135180494
GRCh38: 10:133366990-133366990
21 ECHS1 NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) SNV Pathogenic/Likely pathogenic 379794 rs375032130 GRCh37: 10:135182465-135182465
GRCh38: 10:133368961-133368961
22 ECHS1 NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) SNV Likely pathogenic 488498 rs371582393 GRCh37: 10:135182453-135182453
GRCh38: 10:133368949-133368949
23 ECHS1 NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) SNV Likely pathogenic 488497 rs1318391499 GRCh37: 10:135179543-135179543
GRCh38: 10:133366039-133366039
24 ECHS1 NM_004092.4(ECHS1):c.1A>T (p.Met1Leu) SNV Likely pathogenic 802644 rs753557738 GRCh37: 10:135186837-135186837
GRCh38: 10:133373333-133373333
25 ECHS1 NM_004092.4(ECHS1):c.414+1G>A SNV Likely pathogenic 870387 GRCh37: 10:135183407-135183407
GRCh38: 10:133369903-133369903
26 ECHS1 NM_004092.4(ECHS1):c.541C>T (p.Arg181Cys) SNV Likely pathogenic 488384 rs754609693 GRCh37: 10:135180471-135180471
GRCh38: 10:133366967-133366967
27 ECHS1 NM_004092.4(ECHS1):c.160C>T (p.Arg54Cys) SNV Likely pathogenic 369670 rs758723288 GRCh37: 10:135184190-135184190
GRCh38: 10:133370686-133370686
28 ECHS1 NM_004092.4(ECHS1):c.830C>T (p.Thr277Ile) SNV Likely pathogenic 397546 rs775650144 GRCh37: 10:135176415-135176415
GRCh38: 10:133362911-133362911
29 ECHS1 NM_004092.4(ECHS1):c.847A>G (p.Arg283Gly) SNV Likely pathogenic 692006 rs1589878956 GRCh37: 10:135176398-135176398
GRCh38: 10:133362894-133362894
30 ECHS1 NM_004092.4(ECHS1):c.8C>T (p.Ala3Val) SNV Likely pathogenic 692007 rs372408822 GRCh37: 10:135186830-135186830
GRCh38: 10:133373326-133373326
31 ECHS1 NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala) SNV Likely pathogenic 802638 rs770614061 GRCh37: 10:135178173-135178173
GRCh38: 10:133364669-133364669
32 ECHS1 NM_004092.4(ECHS1):c.740C>T (p.Ala247Val) SNV Likely pathogenic 802639 rs762885546 GRCh37: 10:135178229-135178229
GRCh38: 10:133364725-133364725
33 ECHS1 NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg) SNV Likely pathogenic 802640 rs1589880497 GRCh37: 10:135179582-135179582
GRCh38: 10:133366078-133366078
34 ECHS1 NM_004092.4(ECHS1):c.268G>C (p.Gly90Arg) SNV Uncertain significance 689756 rs1085307550 GRCh37: 10:135184082-135184082
GRCh38: 10:133370578-133370578
35 ECHS1 NM_004092.4(ECHS1):c.444G>T (p.Met148Ile) SNV Uncertain significance 973476 GRCh37: 10:135182497-135182497
GRCh38: 10:133368993-133368993
36 ECHS1 NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) SNV Uncertain significance 451145 rs1554885535 GRCh37: 10:135176409-135176409
GRCh38: 10:133362905-133362905
37 ECHS1 NM_004092.4(ECHS1):c.88+5G>A SNV Uncertain significance 430372 rs761464256 GRCh37: 10:135186745-135186745
GRCh38: 10:133373241-133373241
38 ECHS1 NM_004092.4(ECHS1):c.688G>A (p.Ala230Thr) SNV Uncertain significance 986370 GRCh37: 10:135179531-135179531
GRCh38: 10:133366027-133366027
39 ECHS1 NM_004092.4(ECHS1):c.72G>A (p.Trp24Ter) SNV Uncertain significance 986371 GRCh37: 10:135186766-135186766
GRCh38: 10:133373262-133373262
40 ECHS1 NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg) SNV Uncertain significance 426299 rs1085307550 GRCh37: 10:135184082-135184082
GRCh38: 10:133370578-133370578
41 ECHS1 NM_004092.4(ECHS1):c.833C>T (p.Ala278Val) SNV Uncertain significance 1033636 GRCh37: 10:135176412-135176412
GRCh38: 10:133362908-133362908

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 ECHS1 p.Ala2Val VAR_073373 rs587776498
2 ECHS1 p.Ala158Asp VAR_073374 rs786204001
3 ECHS1 p.Phe33Ser VAR_076185
4 ECHS1 p.Arg54His VAR_076186 rs375266808
5 ECHS1 p.Asn59Ser VAR_076187 rs201865375
6 ECHS1 p.Ile66Thr VAR_076188 rs371063211
7 ECHS1 p.Glu77Gln VAR_076189 rs142601429
8 ECHS1 p.Ala132Thr VAR_076191 rs770931871
9 ECHS1 p.Asp150Gly VAR_076192
10 ECHS1 p.Gln159Arg VAR_076193 rs375032130
11 ECHS1 p.Gly195Ser VAR_076194 rs761989177
12 ECHS1 p.Cys225Arg VAR_076195 rs769429279
13 ECHS1 p.Lys273Glu VAR_076196 rs565090080
14 ECHS1 p.Ala138Val VAR_076479 rs864309656

Expression for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Search GEO for disease gene expression data for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency.

Pathways for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

GO Terms for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Sources for Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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