Search Results

Searched for "Chondrodysplasia Punctata".

1. rhizomelic chondrodysplasia punctata condition summary
   Found in name or synonym: chondrodysplasia punctata, rhizomelic

   Related genes:

   • AGPS
   • GNPAT
   • PEX7
2. X-linked chondrodysplasia punctata 2 condition summary
   Found in name or synonym: chondrodysplasia punctata 2, X-linked

   Related genes:

   • EBP
3. X-linked chondrodysplasia punctata 1 condition summary
   Found in name or synonym: chondrodysplasia punctata 1, X-linked

   Related genes:

   • ARSE
4. EBP gene summary
   Official name: emopamil binding protein (sterol isomerase)

   Found: ...been found to cause X-linked chondrodysplasia punctata 2, a condition that occurs almost...
5. ARSE gene summary
   Official name: arylsulfatase E (chondrodysplasia punctata 1)

   Found: ...are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage...
6. PEX7 gene summary
   Official name: peroxisomal biogenesis factor 7

   Found: ...been found to cause rhizomelic chondrodysplasia punctata type 1 (RCDP1). These mutations...
7. Melnick-Needles syndrome condition summary
   Related classification: Chondrodysplasia Punctata

   Related genes:

   • FLNA
8. GNPAT gene summary
   Official name: glyceronephosphate O-acyltransferase

   Found: ...been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). These mutations...
9. AGPS gene summary
   Official name: alkylglycerone phosphate synthase

   Found: ...been found to cause rhizomelic chondrodysplasia punctata type 3 (RCDP3). These mutations...
10. Zellweger spectrum condition summary
    Found: ...bone spots known as chondrodysplasia punctata that can be seen with an x-ray....

    Related genes:

    • PEX1
11. PEX26 gene information
    Official name: peroxisomal biogenesis factor 26

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
12. SUMF1 gene information
    Official name: sulfatase modifying factor 1

    Found: ...mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic...
13. PEX14 gene information
    Official name: peroxisomal biogenesis factor 14

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
14. PEX10 gene information
    Official name: peroxisomal biogenesis factor 10

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
15. PEX13 gene information
    Official name: peroxisomal biogenesis factor 13

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
16. PEX12 gene information
    Official name: peroxisomal biogenesis factor 12

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
17. PEX19 gene information
    Official name: peroxisomal biogenesis factor 19

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
18. PEX16 gene information
    Official name: peroxisomal biogenesis factor 16

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
19. PEX3 gene information
    Official name: peroxisomal biogenesis factor 3

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...
20. PEX2 gene information
    Official name: peroxisomal biogenesis factor 2

    Found: ...(IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct...