Rhizomelic chondrodysplasia punctata type 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY AGPS DEFICIENCY RCDP3 |
| Number of Symptoms | 12 |
| OrphanetNr: | 309803 |
| OMIM Id: |
600121
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| ICD-10: |
Q77.3 |
| 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 inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rhizomelic chondrodysplasia punctata
-Rare bone disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0005792) | Short humerus | 34 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | 85 / 7739 | ||||
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(HPO:0003097) | Short femur | 13 / 7739 | ||||
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(HPO:0010655) | Epiphyseal stippling | 32 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0008873) | Disproportionate short-limb short stature | 39 / 7739 | ||||
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(OMIM) | Normal plasma phytanic acid | 1 / 7739 | ||||
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(OMIM) | Severely shorted femora | 1 / 7739 | ||||
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(OMIM) | Severely shortened humeri | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Absent alkyl-DHAP synthase activity | 1 / 7739 | ||||
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(OMIM) | Decreased erythrocyte plasmalogen | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Diagnosis OMIM |
Brookhyser et al. (1999) reviewed practices in prenatal diagnosis of RCDP. They presented a family with 1 daughter affected with RCDP due to deficiency of DHAPAT synthase, and 3 subsequent pregnancies. Postmortem tests of 1 fetus of a ... |
| Clinical Description OMIM |
The rhizomelic form of chondrodysplasia punctata is a peroxisomal disorder. Four peroxisomal abnormalities have been identified in the classic form of RCDP (RCDP1): deficiency of dihydroxyacetonephosphate acyltransferase (DHAPAT) and alkyl-DHAP synthase (EC 2.5.1.26), deficient phytanic acid alpha-oxidation, and ... |
| Molecular genetics OMIM |
In the patient with RCDP and isolated alkyl-DHAP synthase deficiency described by Wanders et al. (1994), de Vet et al. (1998) identified a homozygous missense mutation in the AGPS gene (R419H; 603051.0001). Whereas all 3 RCDP ... |