Short-rib thoracic dysplasia 4 with or without polydactyly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ATD4 SRTD4 |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
613819
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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 [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
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:0000546) | Retinal degeneration | 61 / 7739 | ||||
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(HPO:0000773) | Short ribs | 70 / 7739 | ||||
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(HPO:0000774) | Narrow chest | 167 / 7739 | ||||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
| TTC21B; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
In a patient with asphyxiating thoracic dystrophy, Davis et al. (2011) identified compound heterozygosity for 2 mutations in the TTC21B gene: R411X (612014.0004) and L795P (612014.0005). In vitro and in vivo functional expression studies indicated that the R411X ... |