Grange syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly grange occlusive arterial syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 79094 |
| OMIM Id: |
602531
|
| ICD-10: |
Q87.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 7 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Malformation syndrome with connective tissue involvement -Rare developmental defect during embryogenesis -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Occasional [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0001646) | Abnormality of the aortic valve | Frequent [Orphanet] | 55 / 7739 | |||
|
|
(HPO:0100545) | Arterial stenosis | Very frequent [Orphanet] | 22 / 7739 | |||
|
|
(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
|
|
(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
|
|
(HPO:0000822) | Hypertension | Frequent [Orphanet] | 224 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|