Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
General Information (adopted from Orphanet):
Synonyms, Signs: |
Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile HCM due to mitochondrial complex I deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency |
Number of Symptoms | 21 |
OrphanetNr: | 289527 |
OMIM Id: |
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ICD-10: |
I42.2 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Mitochondrial disease with hypertrophic cardiomyopathy
-Rare cardiac disease -Rare genetic disease Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Comment:
Heterozygous missense mutations in the NDUFAF1 gene cause fatal infantile hypertrophic cardiomyopathy (HCM). Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in a patient with isolated complex I deficiency (PMID:21931170). Involved genes: NDUFAF1 (CIA30) (PMID:21931170); |
Symptom Information:
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(HPO:0008872) | Feeding difficulties in infancy | 21931170 | IBIS | 153 / 7739 | ||
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(HPO:0006543) | Cardiorespiratory arrest | 21931170 | IBIS | 11 / 7739 | ||
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(HPO:0100501) | Recurrent bronchiolitis | 21931170 | IBIS | 2 / 7739 | ||
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(HPO:0002151) | Increased serum lactate | 21931170 | IBIS | 92 / 7739 | ||
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(HPO:0003128) | Lactic acidosis | 21931170 | IBIS | 116 / 7739 | ||
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(HPO:0001942) | Metabolic acidosis | 21931170 | IBIS | 81 / 7739 | ||
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(HPO:0001824) | Weight loss | 21931170 | IBIS | 42 / 7739 | ||
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(HPO:0001640) | Cardiomegaly | 21931170 | IBIS | 81 / 7739 | ||
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(HPO:0005120) | Abnormality of cardiac atrium | 21931170 | IBIS | 5 / 7739 | ||
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(HPO:0200128) | Biventricular hypertrophy | 21931170 | IBIS | 11 / 7739 | ||
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(HPO:0001639) | Hypertrophic cardiomyopathy | Very frequent [IBIS] | 21931170 | IBIS | 137 / 7739 | |
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(MedDRA:10049694) | Left ventricular dysfunction | 21931170 | IBIS | 10 / 7739 | ||
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(HPO:0001698) | Pericardial effusion | 21931170 | IBIS | 20 / 7739 | ||
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(HPO:0003116) | Abnormal echocardiogram | 21931170 | IBIS | 33 / 7739 | ||
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(HPO:0008322) | Abnormal mitochondrial morphology | 21931170 | IBIS | 8 / 7739 | ||
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(HPO:0011923) | Decreased activity of mitochondrial complex I | Very frequent [IBIS] | 21931170 | IBIS | 35 / 7739 | |
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(HPO:0001403) | Macrovesicular hepatic steatosis | 21931170 | IBIS | 7 / 7739 | ||
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(HPO:0000975) | Hyperhidrosis | 21931170 | IBIS | 64 / 7739 | ||
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(HPO:0002240) | Hepatomegaly | 21931170 | IBIS | 467 / 7739 | ||
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(HPO:0000980) | Pallor | 21931170 | IBIS | 52 / 7739 | ||
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(HPO:0030149) | Cardiogenic shock | 21931170 | IBIS | 4 / 7739 |
Associated genes:
NDUFAF1; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
ECHS1 | rs587776497 | likely pathogenic | RCV000144496.1 |
ECHS1 | rs587776498 | likely pathogenic | RCV000144497.1 |
IARS2 | rs143722284 | pathogenic | RCV000144717.1 |
IARS2 | rs373436822 | pathogenic | RCV000144716.1 |
MT-ATP6 | rs199476133 | pathogenic | RCV000010275.3 |
MT-ATP6 | rs199476133 | pathogenic | RCV000010273.3 |
MT-ATP6 | rs199476135 | pathogenic | RCV000010279.3 |
MT-ATP6 | rs199476135 | pathogenic | RCV000010285.3 |
MT-ATP6 | rs199476136 | pathogenic | RCV000144005.2 |
MT-ATP6 | rs199476138 | pathogenic | RCV000010282.3 |
MT-ATP6 | rs369202065 | pathogenic | RCV000144024.2 |
MT-ATP6 | rs386829069 | pathogenic | RCV000144006.2 |
MT-ATP6 | rs587776444 | pathogenic | RCV000144025.2 |
MT-CO3 | rs267606614 | pathogenic | RCV000144008.2 |
MT-CO3 | rs587776437 | pathogenic | RCV000144007.2 |
MT-ND1 | rs199476118 | pathogenic | RCV000143998.2 |
MT-ND1 | rs587776433 | pathogenic | RCV000143999.2 |
MT-ND1 | rs587776434 | pathogenic | RCV000144000.2 |
MT-ND1 | rs587776442 | pathogenic | RCV000144023.2 |
MT-ND2 | rs267606889 | pathogenic | RCV000144022.2 |
MT-ND2 | rs267606889 | pathogenic | RCV000010369.3 |
MT-ND3 | rs199476117 | pathogenic | RCV000010360.2 |
MT-ND3 | rs199476117 | pathogenic | RCV000144009.2 |
MT-ND3 | rs267606890 | pathogenic | RCV000144010.2 |
MT-ND3 | rs267606891 | pathogenic | RCV000144011.2 |
MT-ND3 | rs267606891 | pathogenic | RCV000010362.2 |
MT-ND3 | rs587776438 | pathogenic | RCV000144012.2 |
MT-ND3 | rs587780529 | pathogenic | RCV000144458.1 |
MT-ND4 | rs200911567 | pathogenic | RCV000144014.2 |
MT-ND4 | rs28384199 | pathogenic | RCV000144013.2 |
MT-ND5 | rs267606893 | pathogenic | RCV000144015.2 |
MT-ND5 | rs267606893 | pathogenic | RCV000010338.2 |
MT-ND5 | rs267606895 | pathogenic | RCV000010342.3 |
MT-ND5 | rs267606896 | pathogenic | RCV000010343.2 |
MT-ND5 | rs267606897 | pathogenic | RCV000010346.3 |
MT-ND5 | rs267606897 | pathogenic | RCV000144016.2 |
MT-ND5 | rs267606898 | pathogenic | RCV000010349.3 |
MT-ND5 | rs587776440 | pathogenic | RCV000144017.2 |
MT-ND6 | rs199476104 | pathogenic | RCV000144018.2 |
MT-ND6 | rs199476105 | pathogenic | RCV000144019.2 |
MT-ND6 | rs199476105 | pathogenic | RCV000010328.4 |
MT-ND6 | rs199476109 | pathogenic | RCV000010333.2 |
MT-ND6 | rs199476109 | pathogenic | RCV000144020.2 |
MT-TI | rs121434465 | pathogenic | RCV000010224.4 |
MT-TK | rs118192098 | pathogenic | RCV000010193.7 |
MT-TK | rs118192100 | pathogenic | RCV000144004.2 |
MT-TL1 | rs199474657 | pathogenic | RCV000143997.2 |
MT-TV | rs199476144 | pathogenic | RCV000010158.3 |
MT-TV | rs587776441 | pathogenic | RCV000144021.2 |
MT-TW | rs199474672 | pathogenic | RCV000010165.3 |
MT-TW | rs370471013 | pathogenic | RCV000144003.2 |
MT-TW | rs587776435 | pathogenic | RCV000144001.2 |
MTFMT | rs200286768 | pathogenic | RCV000033051.6 |
MTFMT | rs201431517 | pathogenic | RCV000033048.5 |
MTFMT | rs201431517 | pathogenic | RCV000190888.1 |
NDUFA10 | rs387906872 | pathogenic | RCV000023345.3 |
NDUFA10 | rs387906873 | pathogenic | RCV000023346.3 |
NDUFA12 | rs387907139 | pathogenic | RCV000024206.2 |
NDUFA9 | rs199592341 | pathogenic | RCV000023344.2 |
NDUFAF6 | rs137853184 | pathogenic | RCV000000577.3 |
NDUFS3 | rs104894270 | pathogenic | RCV000006391.3 |
NDUFS3 | rs28939714 | pathogenic | RCV000006390.2 |
NDUFS4 | rs104893898 | pathogenic | RCV000007292.2 |
NDUFS4 | rs587776949 | pathogenic | RCV000033251.4 |
NDUFS7 | rs104894705 | pathogenic | RCV000008120.2 |
NDUFS7 | rs121434479 | pathogenic | RCV000008121.2 |
NDUFS8 | rs764276946 | likely pathogenic | RCV000200148.1 |
SDHD | rs786205436 | pathogenic | RCV000171136.1 |