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:
ICD-10: I42.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

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: Sort by abundance 

1
 (HPO:0008872) Feeding difficulties in infancy 21931170 IBIS 153 / 7739
2
 (HPO:0006543) Cardiorespiratory arrest 21931170 IBIS 11 / 7739
3
 (HPO:0100501) Recurrent bronchiolitis 21931170 IBIS 2 / 7739
4
 (HPO:0002151) Increased serum lactate 21931170 IBIS 92 / 7739
5
 (HPO:0003128) Lactic acidosis 21931170 IBIS 116 / 7739
6
 (HPO:0001942) Metabolic acidosis 21931170 IBIS 81 / 7739
7
 (HPO:0001824) Weight loss 21931170 IBIS 42 / 7739
8
 (HPO:0001640) Cardiomegaly 21931170 IBIS 81 / 7739
9
 (HPO:0005120) Abnormality of cardiac atrium 21931170 IBIS 5 / 7739
10
 (HPO:0200128) Biventricular hypertrophy 21931170 IBIS 11 / 7739
11
 (HPO:0001639) Hypertrophic cardiomyopathy Very frequent [IBIS] 21931170 IBIS 137 / 7739
12
 (MedDRA:10049694) Left ventricular dysfunction 21931170 IBIS 10 / 7739
13
 (HPO:0001698) Pericardial effusion 21931170 IBIS 20 / 7739
14
 (HPO:0003116) Abnormal echocardiogram 21931170 IBIS 33 / 7739
15
 (HPO:0008322) Abnormal mitochondrial morphology 21931170 IBIS 8 / 7739
16
 (HPO:0011923) Decreased activity of mitochondrial complex I Very frequent [IBIS] 21931170 IBIS 35 / 7739
17
 (HPO:0001403) Macrovesicular hepatic steatosis 21931170 IBIS 7 / 7739
18
 (HPO:0000975) Hyperhidrosis 21931170 IBIS 64 / 7739
19
 (HPO:0002240) Hepatomegaly 21931170 IBIS 467 / 7739
20
 (HPO:0000980) Pallor 21931170 IBIS 52 / 7739
21
 (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 RCV000010273.3
MT-ATP6 rs199476133 pathogenic RCV000010275.3
MT-ATP6 rs199476135 pathogenic RCV000010285.3
MT-ATP6 rs199476135 pathogenic RCV000010279.3
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 RCV000010369.3
MT-ND2 rs267606889 pathogenic RCV000144022.2
MT-ND3 rs199476117 pathogenic RCV000144009.2
MT-ND3 rs199476117 pathogenic RCV000010360.2
MT-ND3 rs267606890 pathogenic RCV000144010.2
MT-ND3 rs267606891 pathogenic RCV000010362.2
MT-ND3 rs267606891 pathogenic RCV000144011.2
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 RCV000144016.2
MT-ND5 rs267606897 pathogenic RCV000010346.3
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 RCV000190888.1
MTFMT rs201431517 pathogenic RCV000033048.5
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

Additional Information: