Table 1 The 73 genes for autosomal ressesive 30 bone dysplasias.

From: Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals

  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
  1. aWe obteined MIM# and phenotype MIM# from Online Mendelian Inheritance in Man (https://omim.org/).