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Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

MedGen UID:
376896
•Concept ID:
C1850864
•
Disease or Syndrome
Synonyms: Familial congenital muscular dystrophy with gonadal dysgenesis; Muscular dystrophy, congenital, infantile with cataract and hypogonadism
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)
 
Monarch Initiative: MONDO:0009680
OMIM®: 254000
Orphanet: ORPHA1875

Definition

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. [from ORDO]

Clinical features

From HPO
Muscular dystrophy
MedGen UID:
44527
•Concept ID:
C0026850
•
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
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Hypogonadism
MedGen UID:
5711
•Concept ID:
C0020619
•
Disease or Syndrome
A decreased functionality of the gonad.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Follow this link to review classifications for Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome in Orphanet.

Supplemental Content

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