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Mitochondrial complex 1 deficiency, nuclear type 23(MC1DN23)

MedGen UID:
1648408
Concept ID:
C4748799
Disease or Syndrome
Synonym: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
 
Gene (location): NDUFA12 (12q22)
 
Monarch Initiative: MONDO:0032627
OMIM®: 618244

Definition

Mitochondrial complex I deficiency nuclear type 23 (MC1DN23) is an autosomal recessive nuclear-encoded mitochondrial disease with clinical presentations ranging from movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. MRI findings may include basal ganglia abnormalities or optic atrophy (summary by Magrinelli et al., 2022). [from OMIM]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Increased CSF lactate
MedGen UID:
257904
Concept ID:
C1167918
Finding
Increased concentration of lactate in the cerebrospinal fluid.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Increased circulating lactate concentration
MedGen UID:
332209
Concept ID:
C1836440
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.

Recent clinical studies

Diagnosis

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A
Eur J Hum Genet 2015 Feb;23(2):159-64. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.85. PMID: 24781756Free PMC Article

Prognosis

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A
Eur J Hum Genet 2015 Feb;23(2):159-64. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.85. PMID: 24781756Free PMC Article

Clinical prediction guides

Ale-Agha N, Jakobs P, Goy C, Zurek M, Rosen J, Dyballa-Rukes N, Metzger S, Greulich J, von Ameln F, Eckermann O, Unfried K, Brack F, Grandoch M, Thielmann M, Kamler M, Gedik N, Kleinbongard P, Heinen A, Heusch G, Gödecke A, Altschmied J, Haendeler J
Circulation 2021 Dec 7;144(23):1876-1890. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.120.051923. PMID: 34672678
Lee WJ, Ahn HM, Na Y, Wadhwa R, Hong J, Yun CO
Sci Rep 2017 Oct 11;7(1):12957. doi: 10.1038/s41598-017-13485-y. PMID: 29021584Free PMC Article
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A
Eur J Hum Genet 2015 Feb;23(2):159-64. Epub 2014 Apr 30 doi: 10.1038/ejhg.2014.85. PMID: 24781756Free PMC Article

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