Cardiomyopathy-cataract-hip spine disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Krasnow-Qazi syndrome |
| Number of Symptoms | 19 |
| OrphanetNr: | 1345 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 9 cases - PMID: 3965265 [IBIS] |
| Inheritance: |
|
| Age of onset: |
Adolescent Adult - PMID: 3965265 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cardiac disease with cataract
-Rare eye disease -Rare genetic disease Syndrome associated with dilated cardiomyopathy -Rare cardiac disease -Rare genetic disease |
Comment:
| A dilated cardiomyopathy was observed in two generations of a kindred, associated with articular disease and premature cataracts. The cardiomyopathy was characterized histologically by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly (PMID:3965265). |
Symptom Information:
|
|
(HPO:0000518) | Cataract | Very frequent [Orphanet] | 3965265 | IBIS | 454 / 7739 | |
|
|
(HPO:0010885) | Aseptic necrosis | Frequent [Orphanet] | 3965265 | IBIS | 24 / 7739 | |
|
|
(HPO:0005108) | Abnormality of the intervertebral disk | Very frequent [Orphanet] | 3965265 | IBIS | 12 / 7739 | |
|
|
(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 3965265 | IBIS | 322 / 7739 | |
|
|
(HPO:0001369) | Arthritis | 3965265 | IBIS | 44 / 7739 | ||
|
|
(HPO:0000926) | Platyspondyly | Very frequent [Orphanet] | 3965265 | IBIS | 150 / 7739 | |
|
|
(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 3965265 | IBIS | 113 / 7739 | |
|
|
(HPO:0002758) | Osteoarthritis | Frequent [Orphanet] | 3965265 | IBIS | 78 / 7739 | |
|
|
(HPO:0001376) | Limitation of joint mobility | 3965265 | IBIS | 27 / 7739 | ||
|
|
(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 3965265 | IBIS | 172 / 7739 | |
|
|
(HPO:0001644) | Dilated cardiomyopathy | 3965265 | IBIS | 141 / 7739 | ||
|
|
(HPO:0001638) | Cardiomyopathy | Very frequent [Orphanet] | 3965265 | IBIS | 192 / 7739 | |
|
|
(HPO:0001635) | Congestive heart failure | Frequent [Orphanet] | 3965265 | IBIS | 232 / 7739 | |
|
|
(HPO:0001678) | Atrioventricular block | 3965265 | IBIS | 59 / 7739 | ||
|
|
(HPO:0011675) | Arrhythmia | Frequent [Orphanet] | 3965265 | IBIS | 226 / 7739 | |
|
|
(HPO:0000822) | Hypertension | Occasional [Orphanet] | 3965265 | IBIS | 224 / 7739 | |
|
|
(HPO:0001654) | Abnormality of the heart valves | Frequent [Orphanet] | 3965265 | IBIS | 49 / 7739 | |
|
|
(HPO:0004420) | Arterial thrombosis | Occasional [Orphanet] | 3965265 | IBIS | 20 / 7739 | |
|
|
(HPO:0002204) | Pulmonary embolism | Occasional [Orphanet] | 3965265 | IBIS | 26 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|