MCID: MTC108
MIFTS: 25

Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency

Categories: Genetic 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 53 75 29 6 40
Echs1d 57 53 75
Enoyl-Coa Hydratase, Short-Chain, 1, Mitochondrial 13
Short-Chain Enoyl-Coa Hydratase Deficiency 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mitochondrial short-chain enoyl-coa hydratase 1 deficiency:
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 53 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 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, heart and eye, and related phenotypes are nystagmus and spasticity

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)

UniProtKB/Swiss-Prot : 75 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.

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

Diseases related to Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leigh syndrome 9.0 ECHS1 MIR3944

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Laboratory Abnormalities:
increased serum lactate
increased csf lactate
increased urinary glyoxylate (1 patient)
secondarily decreased activity of the pyruvate dehydrogenase complex (pdc)
increased urinary s-(2-carboxypropyl)cysteine
more
Cardiovascular Heart:
ventricular septal defect (1 patient)
obstructive hypertrophic cardiomyopathy (1 patient)

Head And Neck Ears:
hearing impairment (1 patient)

Neurologic Central Nervous System:
spasticity
dystonia
delayed psychomotor development, severe
abnormal t2-weighted hyperintensities in the basal ganglia consistent with leigh syndrome

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

Respiratory:
apnea, episodic


Clinical features from OMIM:

616277

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 spasticity 32 HP:0001257
3 hearing impairment 32 occasional (7.5%) HP:0000365
4 global developmental delay 32 HP:0001263
5 dystonia 32 HP:0001332
6 apnea 32 HP:0002104
7 increased serum lactate 32 HP:0002151
8 ventricular septal defect 32 occasional (7.5%) HP:0001629
9 generalized hypotonia 32 HP:0001290
10 increased csf lactate 32 HP:0002490

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:

41
Brain, Heart, Eye

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

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

# Title Authors Year
1
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. ( 26251176 )
2015

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

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

75 (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
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

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

6
(show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 ECHS1 NM_004092.3(ECHS1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776497 GRCh38 Chromosome 10, 133373332: 133373332
2 ECHS1 NM_004092.3(ECHS1): c.2T> G (p.Met1Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587776497 GRCh37 Chromosome 10, 135186836: 135186836
3 ECHS1 NM_004092.3(ECHS1): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs587776498 GRCh37 Chromosome 10, 135186833: 135186833
4 ECHS1 NM_004092.3(ECHS1): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs587776498 GRCh38 Chromosome 10, 133373329: 133373329
5 ECHS1 NM_004092.3(ECHS1): c.473C> A (p.Ala158Asp) single nucleotide variant Pathogenic rs786204001 GRCh37 Chromosome 10, 135182468: 135182468
6 ECHS1 NM_004092.3(ECHS1): c.473C> A (p.Ala158Asp) single nucleotide variant Pathogenic rs786204001 GRCh38 Chromosome 10, 133368964: 133368964
7 ECHS1 NM_004092.3(ECHS1): c.414+3G> C single nucleotide variant Pathogenic rs786204002 GRCh37 Chromosome 10, 135183405: 135183405
8 ECHS1 NM_004092.3(ECHS1): c.414+3G> C single nucleotide variant Pathogenic rs786204002 GRCh38 Chromosome 10, 133369901: 133369901
9 ECHS1 NM_004092.3(ECHS1): c.176A> G (p.Asn59Ser) single nucleotide variant Pathogenic rs201865375 GRCh37 Chromosome 10, 135184174: 135184174
10 ECHS1 NM_004092.3(ECHS1): c.176A> G (p.Asn59Ser) single nucleotide variant Pathogenic rs201865375 GRCh38 Chromosome 10, 133370670: 133370670
11 ECHS1 NM_004092.3(ECHS1): c.413C> T (p.Ala138Val) single nucleotide variant Pathogenic rs864309656 GRCh37 Chromosome 10, 135183409: 135183409
12 ECHS1 NM_004092.3(ECHS1): c.413C> T (p.Ala138Val) single nucleotide variant Pathogenic rs864309656 GRCh38 Chromosome 10, 133369905: 133369905
13 ECHS1 NM_004092.3(ECHS1): c.160C> T (p.Arg54Cys) single nucleotide variant Likely pathogenic rs758723288 GRCh37 Chromosome 10, 135184190: 135184190
14 ECHS1 NM_004092.3(ECHS1): c.160C> T (p.Arg54Cys) single nucleotide variant Likely pathogenic rs758723288 GRCh38 Chromosome 10, 133370686: 133370686
15 ECHS1 NM_004092.3(ECHS1): c.817A> G (p.Lys273Glu) single nucleotide variant Pathogenic/Likely pathogenic rs565090080 GRCh37 Chromosome 10, 135176428: 135176428
16 ECHS1 NM_004092.3(ECHS1): c.817A> G (p.Lys273Glu) single nucleotide variant Pathogenic/Likely pathogenic rs565090080 GRCh38 Chromosome 10, 133362924: 133362924
17 ECHS1 NM_004092.3(ECHS1): c.518C> T (p.Ala173Val) single nucleotide variant Pathogenic/Likely pathogenic rs150321966 GRCh37 Chromosome 10, 135180494: 135180494
18 ECHS1 NM_004092.3(ECHS1): c.518C> T (p.Ala173Val) single nucleotide variant Pathogenic/Likely pathogenic rs150321966 GRCh38 Chromosome 10, 133366990: 133366990
19 ECHS1 NM_004092.3(ECHS1): c.476A> G (p.Gln159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs375032130 GRCh37 Chromosome 10, 135182465: 135182465
20 ECHS1 NM_004092.3(ECHS1): c.476A> G (p.Gln159Arg) single nucleotide variant Pathogenic/Likely pathogenic rs375032130 GRCh38 Chromosome 10, 133368961: 133368961
21 ECHS1 NC_000010.11 deletion Pathogenic GRCh38 Chromosome 10, 133362462: 133368922
22 ECHS1 NC_000010.11 deletion Pathogenic GRCh37 Chromosome 10, 135175966: 135182426
23 ECHS1 NM_004092.3(ECHS1): c.830C> T (p.Thr277Ile) single nucleotide variant Likely pathogenic rs775650144 GRCh37 Chromosome 10, 135176415: 135176415
24 ECHS1 NM_004092.3(ECHS1): c.830C> T (p.Thr277Ile) single nucleotide variant Likely pathogenic rs775650144 GRCh38 Chromosome 10, 133362911: 133362911
25 ECHS1 NM_004092.3(ECHS1): c.88+5G> A single nucleotide variant Likely pathogenic rs761464256 GRCh37 Chromosome 10, 135186745: 135186745
26 ECHS1 NM_004092.3(ECHS1): c.88+5G> A single nucleotide variant Likely pathogenic rs761464256 GRCh38 Chromosome 10, 133373241: 133373241
27 ECHS1 NM_004092.3(ECHS1): c.541C> T (p.Arg181Cys) single nucleotide variant Likely pathogenic rs754609693 GRCh37 Chromosome 10, 135180471: 135180471
28 ECHS1 NM_004092.3(ECHS1): c.541C> T (p.Arg181Cys) single nucleotide variant Likely pathogenic rs754609693 GRCh38 Chromosome 10, 133366967: 133366967
29 ECHS1 NM_004092.3(ECHS1): c.857_858insAA (p.Asn286Lysfs) insertion Pathogenic GRCh37 Chromosome 10, 135176387: 135176388
30 ECHS1 NM_004092.3(ECHS1): c.857_858insAA (p.Asn286Lysfs) insertion Pathogenic GRCh38 Chromosome 10, 133362883: 133362884
31 ECHS1 NM_004092.3(ECHS1): c.676G> A (p.Ala226Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 135179543: 135179543
32 ECHS1 NM_004092.3(ECHS1): c.676G> A (p.Ala226Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 133366039: 133366039
33 ECHS1 NM_004092.3(ECHS1): c.488C> T (p.Pro163Leu) single nucleotide variant Likely pathogenic rs371582393 GRCh37 Chromosome 10, 135182453: 135182453
34 ECHS1 NM_004092.3(ECHS1): c.488C> T (p.Pro163Leu) single nucleotide variant Likely pathogenic rs371582393 GRCh38 Chromosome 10, 133368949: 133368949
35 ECHS1 NM_004092.3(ECHS1): c.394G> A (p.Ala132Thr) single nucleotide variant Pathogenic rs770931871 GRCh37 Chromosome 10, 135183428: 135183428
36 ECHS1 NM_004092.3(ECHS1): c.394G> A (p.Ala132Thr) single nucleotide variant Pathogenic rs770931871 GRCh38 Chromosome 10, 133369924: 133369924
37 ECHS1 NM_004092.3(ECHS1): c.74G> C (p.Arg25Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 135186764: 135186764
38 ECHS1 NM_004092.3(ECHS1): c.74G> C (p.Arg25Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 133373260: 133373260

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

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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

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