Osteopetrosis with renal tubular acidosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Marble brain disease Guibaud-Vainsel syndrome Mixed RTA Mixed renal tubular acidosis Renal tubular acidosis type 3 Carbonic anhydrase 2 deficiency |
| Number of Symptoms | 35 |
| OrphanetNr: | 2785 |
| OMIM Id: |
259730
267200 |
| ICD-10: |
Q78.2 |
| UMLs: |
|
| MeSH: |
C536058 |
| MedDRA: |
|
| Snomed: |
254122007 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 100 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Osteopetrosis
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Primary renal tubular acidosis -Rare genetic disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0008341) | Distal renal tubular acidosis | 6 / 7739 | ||||
|
|
(HPO:0000124) | Renal tubular dysfunction | Very frequent [Orphanet] | 46 / 7739 | |||
|
|
(HPO:0000303) | Mandibular prognathia | Frequent [Orphanet] | 179 / 7739 | |||
|
|
(HPO:0006482) | Abnormality of dental morphology | Frequent [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
|
|
(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
|
|
(HPO:0004437) | Cranial hyperostosis | 55 / 7739 | ||||
|
|
(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
|
|
(HPO:0007807) | Optic nerve compression | 6 / 7739 | ||||
|
|
(HPO:0009830) | Peripheral neuropathy | Frequent [Orphanet] | 206 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0008153) | Periodic hypokalemic paresis | 4 / 7739 | ||||
|
|
(HPO:0002514) | Cerebral calcification | Frequent [Orphanet] | 89 / 7739 | |||
|
|
(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
|
|
(HPO:0003034) | Diaphyseal sclerosis | 10 / 7739 | ||||
|
|
(HPO:0002857) | Genu valgum | Very frequent [Orphanet] | 144 / 7739 | |||
|
|
(HPO:0010885) | Aseptic necrosis | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0011001) | Increased bone mineral density | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0002135) | Basal ganglia calcification | 37 / 7739 | ||||
|
|
(HPO:0005930) | Abnormality of epiphysis morphology | Very frequent [Orphanet] | 119 / 7739 | |||
|
|
(HPO:0011002) | Osteopetrosis | 19 / 7739 | ||||
|
|
(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0001744) | Splenomegaly | Very frequent [Orphanet] | 337 / 7739 | |||
|
|
(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | 1232 / 7739 | ||||
|
|
(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
|
(HPO:0001873) | Thrombocytopenia | Frequent [Orphanet] | 224 / 7739 | |||
|
|
(HPO:0001978) | Extramedullary hematopoiesis | 6 / 7739 | ||||
|
|
(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
|
|
(HPO:0003148) | Elevated serum acid phosphatase | 7 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|