Cardiomyopathy-cataract-hip spine disease syndrome
historical
Synonyms: Krasnow-Qazi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- historical
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiomyopathy-cataract-hip spine disease syndrome | Krasnow-Qazi syndrome |
| fr | Syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes | Syndrome de Krasnow-Qazi |
| de | Kardiomyopathie-Katarakt-Hüftwirbelsäulenerkrankung-Syndrom | Krasnow-Qazi-Syndrom |
| es | Síndrome de miocardiopatía-cataratas-enfermedad de la cadera y la columna vertebral | Síndrome de Krasnow-Qazi |
| it | Cardiomiopatia - cataratta - malattia spondilo-pelvica | Sindrome di Krasnow-Qazi |
| nl | Cardiomyopathie - cataract - heup-wervelkolomziekte-syndroom | Syndroom van Krasnow-Qazi |
| pt | Síndrome de miocardiopatia-catarata-doença da anca e da coluna vertebral | Síndrome Krasnow-Qazi |
| pl | Kardiomiopatia - zaćma - choroba biodra i kręgosłupa | Zespół Krasnowa i Qazi |
| cs | Syndrom zahrnující kardiomyopatii, kataraktu a onemocnění bederní páteře | Krasnowův-Qaziho syndrom · Krasnow-Qaziho syndrom |
| uk | Синдром кардіоміопатії - катаракти - патології хребта і тазостегнового суглоба | Синдром Краснова-Казі |
| zh | 心肌病-白内障-髋部脊柱疾病综合征 | Krasnow-Qazi综合征 |
| tr | Kardiyomiyopati-katarakt-kalça omurga hastalığı sendromu | Krasnow-Qazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.0 | NTBT | attributed | validated |
| MONDO | 0015282 | E | validated | |
| MeSH | C537616 | E | validated | |
| UMLS | C2931548 | E | validated | |
| GARD | 1102 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 3965265[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3965265[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000518 | Cataract | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000926 | Platyspondyly | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0010885 | Avascular necrosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0001387 | Joint stiffness | |
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0004420 | Arterial thrombosis | |
| HP:0000822 | Hypertension | |
| HP:0002204 | Pulmonary embolism | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1345
- This record as JSON: /data/d/1345.json