Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7(MC5DN7)

MedGen UID:: 1841118
•Concept ID:: C5830482
•: Disease or Syndrome

Synonym:	MC5DN7

Gene (location): Gene(s) directly associated with this condition or phenotype.	ATP5PO (21q22.11)

Monarch Initiative:	MONDO:0957255
OMIM®:	620359

Definition

Mitochondrial complex V deficiency nuclear type 7 (MC5DN7) is an autosomal recessive disorder characterized by hypotonia and global developmental delay apparent soon after birth. More variable features include poor growth, seizures, dystonia, hypertrophic cardiomyopathy, and brain imaging abnormalities. Some affected individuals die in infancy or childhood (Zech et al., 2022, Ganapathi et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273). [from OMIM]

Clinical features

From HPO

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.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Focal-onset seizure

MedGen UID:: 199670
•Concept ID:: C0751495
•: Disease or Syndrome

A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.

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Increased CSF lactate

MedGen UID:: 257904
•Concept ID:: C1167918
•: Finding

Increased concentration of lactate in the cerebrospinal fluid.

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Brain atrophy

MedGen UID:: 1643639
•Concept ID:: C4551584
•: Disease or Syndrome

Partial or complete wasting (loss) of brain tissue that was once present.

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Refractory status epilepticus

MedGen UID:: 1713873
•Concept ID:: C5397872
•: Disease or Syndrome

Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.

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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.

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Secondary microcephaly