ORPHA:2785
Osteopetrosis with renal tubular acidosis
Synonyms: Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome · Marble brain disease · Mixed RTA · Mixed renal tubular acidosis · Renal tubular acidosis type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopetrosis with renal tubular acidosis | Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome · Marble brain disease · Mixed RTA · Mixed renal tubular acidosis · Renal tubular acidosis type 3 |
| fr | Ostéopétrose avec acidose tubulaire rénale | Acidose tubulaire rénale mixte · Acidose tubulaire rénale type 3 · Déficit en anhydrase carbonique II · Syndrome de Guibaud-Vainsel |
| de | Osteopetrose mit renaler tubulärer Azidose | Azidose, renale tubuläre, Typ 3 · Carbonanhydrase-II-Mangel · Gemischte renale tubuläre Azidose · Guibaud-Vainsel-Syndrom · RTA, gemischt |
| es | Osteopetrosis con acidosis tubular renal | Acidosis tubular renal mixta · Acidosis tubular renal tipo 3 · Deficiencia de anhidrasa carbónica 2 · Enfermedad del cerebro de mármol · RTA mixta · Síndrome de Guibaud-Vainsel |
| it | Osteopetrosi con acidosi tubolare renale | Acidosi tubolare renale mista · Acidosi tubolare renale, tipo 3 · Deficit di anidrasi carbonica 2 · Malattia del cervello di marmo · RTA mista · Sindrome di Guibaud-Vainsel |
| nl | Osteopetrose met renale tubulaire acidose | Gemengde RTA · Gemengde renale tubulaire acidose · Koolzuuranhydrase 2-deficiëntie · Renale tubulaire acidose type 3 · Syndroom van Guibaud-Vainsel |
| pt | Osteopetrose com acidose tubular renal | Acidose tubular renal mista · Deficiência de anidrase carbónica 2 · RTA mista · Síndrome Guibaud-Vainsel |
| pl | Osteopetroza z kwasicą kanalików nerkowych | Kwasica kanalików nerkowych typu 3 · Marmurowa choroba mózgu · Mieszana kwasica kanalików nerkowych · Mieszana RTA · Niedobór anhydrazy węglanowej 2 · Zespół Guibauda i Vainsela |
| cs | Osteopetróza s renální tubulární acidózou | Deficit karboanhydrázy 2 · Guibaudův-Vainselův syndrom · Guibaud-Vainselův syndrom |
| uk | Остеопетроз з нирковим тубулярним ацидозом | Дефіцит карбоангідрази 2 · Синдром Гібо-Вейнселя · Мармурова хвороба мозку · Змішаний нирковий тубулярний ацидоз · Змішаний RTA · Нирковий тубулярний ацидоз типу 3 |
| zh | 骨硬化症伴肾小管性酸中毒 | 碳酸酐酶2缺乏症 |
| tr | Renal tübüler asidozlu osteopetroz | Karma RTA · Mermer beyin hastalığı · Guibaud-Vainsel sendromu · Karma renal tübüler asidoz · Renal tübüler asidoz tip 3 · Karbonik anhidraz 2 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259730 | E | validated | |
| OMIM | 267200 | BTNT | not yet validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0009818 | E | validated | |
| MONDO | 9818 | E | validated | |
| MeSH | C536058 | E | validated | |
| UMLS | C0345407 | E | validated | |
| GARD | 4154 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:314822Primary renal tubular acidosis
rare genetic diseases; rare renal diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1373 | ENSG00000104267 | 611492 | 8q21.2 | carbonic anhydrase 2 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
60 annotations · validated 2021-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0011002 | Osteopetrosis | |
| HP:0001947 | Renal tubular acidosis | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0002514 | Cerebral calcification | |
| HP:0001293 | Cranial nerve compression | |
| HP:0008341 | Distal renal tubular acidosis | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003148 | Elevated serum acid phosphatase | |
| HP:0001263 | Global developmental delay | |
| HP:0002901 | Hypocalcemia | |
| HP:0002049 | Proximal renal tubular acidosis | |
| HP:0002757 | Recurrent fractures | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0000479 | Abnormal retinal morphology | |
| HP:0001903 | Anemia | |
| HP:0000592 | Blue sclerae | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0000248 | Brachycephaly | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0005461 | Craniofacial disproportion | |
| HP:0004445 | Elliptocytosis | |
| HP:0030812 | Enlarged tonsils | |
| HP:0001508 | Failure to thrive | |
| HP:0002240 | Hepatomegaly | |
| HP:0000218 | High palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001882 | Leukopenia | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000787 | Nephrolithiasis | |
| HP:0001562 | Oligohydramnios | |
| HP:0000648 | Optic atrophy | |
| HP:0001876 | Pancytopenia | |
| HP:0000767 | Pectus excavatum | |
| HP:0006335 | Persistence of primary teeth | |
| HP:0001357 | Plagiocephaly | |
| HP:0012370 | Prominence of the zygomatic bone | |
| HP:0006641 | Prominent floating ribs | |
| HP:0011220 | Prominent forehead | |
| HP:0001105 | Retinal atrophy | |
| HP:0000278 | Retrognathia | |
| HP:0000867 | Secondary hyperparathyroidism | |
| HP:0001328 | Specific learning disability | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0002684 | Thickened calvaria | |
| HP:0001873 | Thrombocytopenia | |
| HP:0000692 | Tooth malposition | |
| Very rare (<4-1%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0012181 | Entrapment neuropathy | |
| HP:0001942 | Metabolic acidosis | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002273 | Tetraparesis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30109220[PMID]_28761241[PMID]_29571443[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2785
- This record as JSON: /data/d/2785.json