Cerebro-reno-digital syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 27 |
| OrphanetNr: | 1396 |
| OMIM Id: |
609345
|
| ICD-10: |
Q87.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease Syndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0008678) | Renal hypoplasia/aplasia | Frequent [Orphanet] | 127 / 7739 | |||
|
|
(HPO:0000083) | Renal insufficiency | Very frequent [Orphanet] | 232 / 7739 | |||
|
|
(HPO:0000113) | Polycystic kidney dysplasia | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
|
|
(HPO:0002714) | Downturned corners of mouth | Very frequent [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0000581) | Blepharophimosis | Occasional [Orphanet] | 197 / 7739 | |||
|
|
(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
|
|
(HPO:0003196) | Short nose | Frequent [Orphanet] | 264 / 7739 | |||
|
|
(HPO:0000572) | Visual loss | Very frequent [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0000479) | Abnormality of the retina | Frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000639) | Nystagmus | Very frequent [Orphanet] | 555 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0011039) | Abnormality of the helix | Frequent [Orphanet] | 33 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0001276) | Hypertonia | Frequent [Orphanet] | 317 / 7739 | |||
|
|
(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
|
|
(HPO:0001744) | Splenomegaly | Frequent [Orphanet] | 337 / 7739 | |||
|
|
(HPO:0002612) | Congenital hepatic fibrosis | Very frequent [Orphanet] | 16 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|