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1.

Mitochondrial complex I deficiency, nuclear type 1

Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (see 256000), Leber hereditary optic neuropathy (535000), and some forms of Parkinson disease (see 556500) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998). Genetic Heterogeneity of Complex I Deficiency Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by Haack et al., 2012). However, the majority of cases are caused by mutations in nuclear-encoded genes (Loeffen et al., 2000; Triepels et al., 2001). Complex I deficiency resulting from mutation in nuclear-encoded genes include MC1DN1, caused by mutation in the NDUFS4 gene (602694); MC1DN2 (618222), caused by mutation in the NDUFS8 gene (602141); MC1DN3 (618224), caused by mutation in the NDUFS7 gene (601825); MC1DN4 (618225), caused by mutation in the NDUFV1 gene (161015); MC1DN5 (618226), caused by mutation in the NDUFS1 gene (157655); MC1DN6 (618228), caused by mutation in the NDUFS2 gene (602985); MC1DN7 (618229), caused by mutation in the NDUFV2 gene (600532); MC1DN8 (618230), caused by mutation in the NDUFS3 gene (603846); MC1DN9 (618232), caused by mutation in the NDUFS6 gene (603848); MC1DN10 (618233), caused by mutation in the NDUFAF2 gene (609653); MC1DN11 (618234), caused by mutation in the NDUFAF1 gene (606934); MC1DN12 (301020), caused by mutation in the NDUFA1 gene (300078); MC1DN13 (618235), caused by mutation in the NDUFA2 gene (602137); MC1DN14 (618236), caused by mutation in the NDUFA11 gene (612638); MC1DN15 (618237), caused by mutation in the NDUFAF4 gene (611776); MC1DN16 (618238), caused by mutation in the NDUFAF5 gene (612360); MC1DN17 (618239), caused by mutation in the NDUFAF6 gene (612392); MC1DN18 (618240), caused by mutation in the NDUFAF3 gene (612911); MC1DN19 (618241), caused by mutation in the FOXRED1 gene (613622); MC1DN20 (611126), caused by mutation in the ACAD9 gene (611103); MC1DN21 (618242), caused by mutation in the NUBPL gene (613621); MC1DN22 (618243), caused by mutation in the NDUFA10 gene (603835); MC1DN23 (618244), caused by mutation in the NDUFA12 gene (614530); MC1DN24 (618245), caused by mutation in the NDUFB9 gene (601445); MC1DN25 (618246), caused by mutation in the NDUFB3 gene (603839); MC1DN26 (618247), caused by mutation in the NDUFA9 gene (603834); MC1DN27 (618248), caused by mutation in the MTFMT gene (611766); MC1DN28 (618249), caused by mutation in the NDUFA13 gene (609435); MC1DN29 (618250), caused by mutation in the TMEM126B gene (615533); MC1DN30 (301021), caused by mutation in the NDUFB11 gene (300403); MC1DN31 (618251), caused by mutation in the TIMMDC1 gene (615534); MC1DN32 (618252), caused by mutation in the NDUFB8 gene (602140); MC1DN33 (618253), caused by mutation in the NDUFA6 gene (602138); MC1DN34 (618776), caused by mutation in the NDUFAF8 gene (618461); MC1DN35 (619003), caused by mutation in the NDUFB10 gene (603843); MC1DN36 (619170), caused by mutation in the NDUFC2 gene (603845); MC1DN37 (619272), caused by mutation in the NDUFA8 gene (603359); MC1DN38 (619382), caused by mutation in the DNAJC30 gene (618202); and MC1DN39 (620135), caused by mutation in the NDUFB7 gene (603842). Complex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (516000), MTND2 (516001), MTND3 (516002), MTND4 (516003), MTND5 (516005), MTND6 (516006). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON; 535000) or Leigh syndrome. Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (590085). [from OMIM]

MedGen UID:
940569
Concept ID:
CN257533
Disease or Syndrome
2.

Coenzyme Q10 deficiency, primary, 1

Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. [from GeneReviews]

MedGen UID:
764868
Concept ID:
C3551954
Disease or Syndrome
3.

Fanconi anemia complementation group Q

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA. [from GeneReviews]

MedGen UID:
815318
Concept ID:
C3808988
Disease or Syndrome
4.

Mitochondrial complex I deficiency

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms). [from ORDO]

MedGen UID:
374101
Concept ID:
C1838979
Disease or Syndrome
5.

Autosomal recessive nonsyndromic hearing loss 84A

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. [from MONDO]

MedGen UID:
462004
Concept ID:
C3150654
Disease or Syndrome
6.

Mitochondrial complex 1 deficiency, nuclear type 8

MedGen UID:
1648411
Concept ID:
C4748766
Disease or Syndrome
7.

Mitochondrial complex 1 deficiency, nuclear type 5

MedGen UID:
1648292
Concept ID:
C4748754
Disease or Syndrome
8.

Mitochondrial complex 1 deficiency, nuclear type 3

MedGen UID:
1648346
Concept ID:
C4748752
Disease or Syndrome
9.

Mitochondrial complex 1 deficiency, nuclear type 9

MedGen UID:
1648447
Concept ID:
C4748767
Disease or Syndrome
10.

Prolonged QT interval

Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [from HPO]

MedGen UID:
57494
Concept ID:
C0151878
Finding
11.

Mitochondrial complex 1 deficiency, nuclear type 2

MedGen UID:
1648466
Concept ID:
C4748737
Disease or Syndrome
12.

Mitochondrial complex 1 deficiency, nuclear type 6

MedGen UID:
1648496
Concept ID:
C4748759
Disease or Syndrome
13.

Partial deletion of the long arm of chromosome 14

Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. [from MONDO]

MedGen UID:
444119
Concept ID:
C2931697
Cell or Molecular Dysfunction
14.

Abnormal QRS complex

An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram. [from HPO]

MedGen UID:
1370423
Concept ID:
C4476580
Finding
15.

Shortened QT interval

Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [from HPO]

MedGen UID:
489827
Concept ID:
C0151879
Finding
16.

Hearing loss, autosomal dominant 73

MedGen UID:
1627153
Concept ID:
C4540024
Disease or Syndrome
17.

Chromosome 1q21.1 duplication syndrome

1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.

Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. Individuals with this condition can also have features of autism spectrum disorder. These disorders are characterized by impaired communication and socialization skills, as well as delayed development of speech and language. Expressive language skills (vocabulary and the production of speech) tend to be more impaired than receptive language skills (the ability to understand speech) in affected individuals. In childhood, 1q21.1 microduplications may also be associated with an increased risk of attention-deficit/hyperactivity disorder (ADHD) and other behavioral problems. Psychiatric disorders such as schizophrenia or mood disorders such as anxiety or depression occur in some affected individuals, usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people with a 1q21.1 microduplication.

Some individuals with a 1q21.1 microduplication are born with malformations of the heart, including a particular combination of heart defects known as tetralogy of Fallot. Less commonly, other physical malformations such as the urethra opening on the underside of the penis (hypospadias) in males, inward- and upward-turning feet (clubfeet), or misalignment of the hip joint (hip dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may also have a larger than average head size or taller than average adult stature. Some have slightly unusual facial features such as wide-set eyes or low-set ears. As adults, individuals with a 1q21.1 microduplication may be prone to develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. However, there is no particular pattern of physical abnormalities that characterizes 1q21.1 microduplications. Signs and symptoms related to the chromosomal change vary even among affected members of the same family. Some people with the duplication have no identified physical, intellectual, or behavioral abnormalities. [from MedlinePlus Genetics]

MedGen UID:
382715
Concept ID:
C2675891
Disease or Syndrome
18.

Abnormal QT interval

Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). [from HPO]

MedGen UID:
1620328
Concept ID:
C4531051
Finding
19.

Prolonged QRS complex

Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. [from HPO]

MedGen UID:
489828
Concept ID:
C0235475
Finding
20.

Q fever

Q fever, caused by <i>Coxiella burnetii</i>, is a bacterial zoonosis with a wide clinical spectrum that can be life-threatening and, in some cases, can become chronic. [from ORDO]

MedGen UID:
48290
Concept ID:
C0034362
Disease or Syndrome
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