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Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome(MPMCD)

MedGen UID:: 416525
•Concept ID:: C2751320
•: Disease or Syndrome

Synonyms:	MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED; Myopathy with cataract and combined respiratory-chain deficiency; Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GFER (16p13.3)

Monarch Initiative:	MONDO:0013116
OMIM®:	613076
Orphanet:	ORPHA330054

Definition

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. [from ORDO]

Clinical features

From HPO

Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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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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Myopathy

MedGen UID:: 10135
•Concept ID:: C0026848
•: Disease or Syndrome

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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Developmental cataract

MedGen UID:: 3202
•Concept ID:: C0009691
•: Congenital Abnormality

A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Decreased activity of mitochondrial respiratory chain

MedGen UID:: 892840
•Concept ID:: C4024609
•: Finding

Decreased activity of the mitochondrial respiratory chain.

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Abnormal cellular phenotype
- Decreased activity of mitochondrial respiratory chain
Abnormality of the eye
- Cataract
- Developmental cataract
Abnormality of the musculoskeletal system
- Myopathy
Abnormality of the nervous system
- Global developmental delay
Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Abnormality of the musculoskeletal system
- Abnormality of the musculature
  - Abnormal skeletal muscle morphology
    - Myopathy
      - Congenital structural myopathy
        Inborn mitochondrial myopathy
        Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Follow this link to review classifications for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome in Orphanet.

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Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome(MPMCD)

Definition

Clinical features

Term Hierarchy

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