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Increased Z-disc width

MedGen UID:
Concept ID:
Synonyms: Increased Z-disk width; Widened z-discs
HPO: HP:0033008


Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). [from HPO]

Term Hierarchy

Conditions with this feature

Myofibrillar myopathy 7
MedGen UID:
Concept ID:
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Cardiomyopathy, dilated, 2G
MedGen UID:
Concept ID:
Disease or Syndrome
Dilated cardiomyopathy-2G (CMD2G) is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. Cardiac tissue exhibits markedly shortened thin filaments, disorganized myofibrils, and reduced contractile force generation, resulting in the severe ventricular dysfunction observed. There is no evidence of skeletal muscle hypertrophy (Ahrens-Nicklas et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200.

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Clinical prediction guides

Das S, Kumar P, Verma A, Maiti TK, Mathew SJ
Dev Biol 2019 May 15;449(2):90-98. Epub 2019 Feb 28 doi: 10.1016/j.ydbio.2019.02.017. PMID: 30826400Free PMC Article

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