Nephronophthisis 12
General Information (adopted from Orphanet):
| Synonyms, Signs: |
JBTS11, included NPHP12 Joubert syndrome 11, included |
| Number of Symptoms | 16 |
| OrphanetNr: | |
| OMIM Id: |
613820
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive 27625867 [IBIS] |
| Age of onset: |
Infancy, Childhood 21068128 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal recessive medullary cystic kidney disease
-Rare genetic disease -Rare renal disease |
Comment:
| Here we show that mutations in TTC21B, which encodes the retrograde intraflagellar transport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy (PMID:21258341). |
Symptom Information:
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(HPO:0000092) | Tubular atrophy | 19066617 | IBIS | 28 / 7739 | ||
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(HPO:0005576) | Tubulointerstitial fibrosis | 19066617 | IBIS | 32 / 7739 | ||
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(HPO:0005583) | Tubular basement membrane disintegration | 19118152 | IBIS | 18 / 7739 | ||
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(HPO:0001969) | Tubulointerstitial abnormality | 19118152 | IBIS | 15 / 7739 | ||
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(HPO:0000108) | Renal corticomedullary cysts | 19118152 | IBIS | 21 / 7739 | ||
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(HPO:0000556) | Retinal dystrophy | 21068128 | IBIS | 65 / 7739 | ||
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(HPO:0002110) | Bronchiectasis | 21068128 | IBIS | 73 / 7739 | ||
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(HPO:0001696) | Situs inversus totalis | 21068128 | IBIS | 44 / 7739 | ||
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(HPO:0001654) | Abnormality of the heart valves | 21068128 | IBIS | 49 / 7739 | ||
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(HPO:0002179) | Opisthotonus | 21068128 | IBIS | 35 / 7739 | ||
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(HPO:0001249) | Intellectual disability | 21068128 | IBIS | 1089 / 7739 | ||
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(HPO:0001395) | Hepatic fibrosis | 21068128 | IBIS | 67 / 7739 | ||
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(HPO:0000076) | Vesicoureteral reflux | 21068128 | IBIS | 94 / 7739 | ||
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(HPO:0000090) | Nephronophthisis | 21258341; 19066617 | IBIS | 42 / 7739 | ||
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(HPO:0003774) | Stage 5 chronic kidney disease | 19066617; 21258341; 27625867; 19118152 | IBIS | 78 / 7739 | ||
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(HPO:0030151) | Cholangitis | 21068128 | IBIS | 10 / 7739 |
Associated genes:
| TTC21B; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In affected members of 2 unrelated consanguineous families with nephronophthisis-12, Davis et al. (2011) identified a homozygous mutation in the TTC21B gene (P209L; 612014.0001). One family was of Portuguese and the other of Egyptian descent. In vitro and ... |