Table 1 The 73 genes for autosomal ressesive 30 bone dysplasias.
Name of disorders | Gene | MIM#a | Phenotype MIM#a | |
|---|---|---|---|---|
1 | Osteogenesis imperfecta | BMP1 | 112264 | 614856 |
LEPRE1 | 610339 | 610915 | ||
CRTAP | 605497 | 610682 | ||
PPIB | 123841 | 259440 | ||
PLOD2 | 601865 | 609220 | ||
SERPINH1 | 600943 | 613848 | ||
FKBP10 | 607063 | 610968 | ||
SERPINF1 | 172860 | 613982 | ||
SEC24D | 607186 | 616294 | ||
WNT1 | 164820 | 615220 | ||
CREB3L1 | 616215 | 616229 | ||
SP7 | 606633 | 613849 | ||
2 | Hypophosphatemic rickets | DMP1 | 600980 | 241520 |
ENPP1 | 173335 | 613312 | ||
SLC34A3 | 609826 | 241530 | ||
3 | Metaphyseal dysplasia | POP1 | 602486 | 617396 |
SBDS | 607444 | 609135 | ||
4 | Mucopolysaccharidosis | ARSB | 611542 | 253200 |
GALNS | 612222 | 253000 | ||
GLB1 | 611458 | 253010 | ||
GNS | 607664 | 252940 | ||
GUSB | 611499 | 253220 | ||
HSGNAT | 610453 | 252930 | ||
IDUA | 252800 | 607014 | ||
NAGLU | 609701 | 252920 | ||
SGSH | 605270 | 252900 | ||
5 | Osteopetrosis | CA2 | 611492 | 259730 |
CLCN7 | 602727 | 611490 | ||
FERMT3 | 607901 | 612840 | ||
OSTM1 | 607649 | 259720 | ||
PLEKHM1 | 611466 | 611497 | ||
RASGRP2 | 605577 | 615888 | ||
SNX10 | 614780 | 615085 | ||
TCIRG1 | 604592 | 259700 | ||
TNFRSF11A | 603499 | 612301 | ||
TNFSF11 | 602942 | 259710 | ||
6 | Pyknodysostosis | CTSK | 601105 | 265800 |
7 | Spondylometaphyseal dysplasias (SMD) | PCYT1A | 123695 | 608940 |
8 | Stickler syndrome, recessive type | COL9A1 | 120210 | 614134 |
9 | Spondylocostal dysostosis | DLL3 | 602768 | 277300 |
HES7 | 608059 | 613686 | ||
LFNG | 602576 | 609813 | ||
MESP2 | 605195 | 608681 | ||
10 | Mesomelic dysplasia (Kozlowski–Reardon type) | |||
11 | Hypophosphatasia | ALPL | 171760 | 241500 |
12 | Mucolipidosis | GNPTAB | 607840 | 252500 |
GNPTG | 607838 | 252605 | ||
13 | Ehlers–Danlos sydrome | B4GALT7 | 604327 | 130070 |
14 | Chondroectodermal dysplasia (Ellis–van Creveld) | EVC | 604831 | 225500 |
EVC2 | 607261 | 225500 | ||
15 | Acromesomelic dysplasia type Maroteaux (AMDM) | NPR2 | 108961 | 602875 |
16 | Desbuquois dysplasia | CANT1 | 613165 | 251450 |
XYLT1 | 608124 | 615777 | ||
17 | Spondylo-epi-metaphyseal-dysplasias (SEMD) | DDR2 | 191311 | 271665 |
MATN3 | 602109 | 608728 | ||
18 | RAPADILINO syndrome Poland | RECQL4 | 603780 | 266280 |
19 | Metaphyseal anadysplasia | MMP13 | 600108 | 250400 |
MMP9 | 120361 | 613073 | ||
20 | Antley–Bixler syndrome | POR | 124015 | 201750 |
21 | Oto-spondylo-mega-epiphyseal dysplasia (OSMED) | COL11A2 | 120290 | 215150 |
22 | Diastrophic dysplasia (DTD) | SLC26A2 | 606718 | 222600 |
23 | Duggve–Melchior–Clausen dysplasia (DMC) | DYM | 607461 | 223800 |
RAB33B | 605950 | 615222 | ||
24 | Dyssegmental dysplasia (Silverman–Handmaker type/Rolland–Desbuquios type) | HSPG2 | 142461 | 224410 |
25 | SLC26A2 | 606718 | 222600 | |
26 | Progressive peudorheumatoid dysplasia (PPRD; SED with progressive arthropathy) | WISP3 | 603400 | 208230 |
27 | Asphyxiating thoracic dysplasia (ATD; Jeune) | DYNC2H1 | 603297 | 613091 |
WDR34 | 613363 | 615633 | ||
IFT80 | 611177 | 611263 | ||
IFT172 | 607386 | 615630 | ||
IFT140 | 614620 | 266920 | ||
WDR19 | 608151 | 614376 | ||
TTC21B | 612014 | 613819 | ||
28 | Craniometaphyseal dysplasia | GJA1 | 121014 | 218400 |
29 | Pyle disease | |||
30 | Robinow syndrome | ROR2 | 602337 | 268310 |
