Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018801 (
heart failure
)
72,216
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Background:
Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the
COL18A1
gene. The triad of high myopia, occipital defect,
vitreoretinal degeneration
has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported in the affected patients.
Materials and Methods:
Here we provide detailed clinical description of 3 individuals with Knobloch syndrome. Ocular examination and fundus imaging have been performed. Detailed information about systemic conditions has been provided.
Results:
Mutations in
COL18A1
were identified in all three patients. Patient 1 had congenital hip dislocation and patient 2 had renal atrophy,
cardiac insufficiency
and difficult skin healing.
Conclusions:
With this report we add to the clinical and genetic knowledge of this rare condition.
...
PMID:Three cases of molecularly confirmed Knobloch syndrome. 3217 53
