Gene: [19p131/COMP] cartilage oligomeric matrix protein; pseudoachondroplasia (MIM:177170); epiphyseal dysplasia, multiple 1 (Fairbank type; MIM:132400); [PSACH EPD1 ]
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CAG |
Four forms of multiple epiphyseal dysplasia are described: EDM1 - autosomal dominant form 1 (Fairbank type) is caused by mutation in the cartilage oligomeric matrix protein (this locus). Genome Data Base reserves a separate locus EDM1 for this form (GDB:G00-307-539); also Genome Data Base reserves a separate locus PSACH for 'pseudoachondroplasia (epiphyseal dysplasia 1, multiple)' (GDB:G00-204-064); EDM2 - autosomal dominant form 2 is caused by mutation in the collagen, type IX, alpha 2 (GEM:01p3/COL9A2); Genome Data Base reserves a separate locus EDM2 for this form (GDB:G00-307-540); EDM3 - autosomal dominant form 3 (not linked with 19p13.1 and 1p32); EDM4 - autosomal recessive form 4 (with early-onset diabetes mellitus, Wolcott-Rallison syndrome) (GEM:15q1/EDM4)." |
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REF |
CLO,SEQ,GEN,MUT,PAT "Briggs MD &: Nature Genet, 10, 330-336, 1995 LIN,LOC "Briggs MD &: Genomics, 18, 656-660, 1993 HET,PAT "Deere M &: AJHG, 56, 698-704, 1995 CLO,SEQ,GEN,MUT,PAT "Hecht JT &: Nature Genet, 10, 325-329, 1995 LIN,LOC "Hecht JT &: Genomics, 18, 661-666, 1993 LIN,LOC "Hecht JT &: Am J Med Genet, 44, 420-424, 1992 LOC,MAG,MAP "Knowlton RG &: Genomics, 28, 513-519, 1995 PAT "Langer LO,Jr &: Am J Med Genet, 47, 772-781, 1993 REV,PAT "McKeand J &: Am J Med Genet, 63, 406-410, 1996 LOC "Newton G &: Genomics, 24, 435-439, 1994 LIN,LOC "Oehlmann R &: AJHG, 54, 3-10, 1994 LIN,LOC "Oehlmann R &: AJHG, 53, A1054-1054, 1993 LIN,LOC "Rimoin DL &: Hum Genet, 93, 236-242, 1993 PAT "Stanescu R &: Am J Med Genet, 45, 501-507, 1993 PAT "Villarreal T &: Am J Med Genet, 42, 415-419, 1992 LIN,LOC "Weaver EJ &: Am J Med Genet, 45, 345-352, 1993 |
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KEY |
bone, devd |
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CLA |
coding, basic |
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LOC |
19 p13.1 |
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MIM |
MIM: 600310 |
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SYN |
PSACH EPD1 |
