3+4+Supplementum/2012 - Společnost pro pojivové tkáně
3+4+Supplementum/2012 - Společnost pro pojivové tkáně
3+4+Supplementum/2012 - Společnost pro pojivové tkáně
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group/Name of Disorder Inheritance MIM No. Locus Gene Protein<br />
Idiopathic juvenile osteoporosis SP 259750<br />
Cole-Carpenter dysplasia (bone fragility with craniosynostosis) SP 112240<br />
Spondylo-ocular dysplasia AR 605822<br />
Osteopenia with radiolucent lesions of the mandible AD 166260<br />
Ehlers-Danlos syndrome, <strong>pro</strong>geroid form AR 130070 5q35 B4GALT7 Xylosyl<strong>pro</strong>tein 4-beta- galactosyltransferase<br />
deficiency<br />
Geroderma osteodysplasticum AR 231070 1q24.2 GORAB SCYL1-binding <strong>pro</strong>tein 1<br />
Cutis laxa, autosomal recessive form, type 2B (ARCL2B) AR 612940 17q25.3 PYCR1 Pyrroline-5-carboxylate reductase 1<br />
Cutis laxa, autosomal recessive form, type 2A (ARCL2A) (Wrinkly skin syndrome) AR 278250, 21920012q24.3 ATP6VOA2 ATPase, H+ transporting, lysosomal, V0<br />
subunit A2<br />
Singleton-Merten dysplasia AD 182250<br />
26. Abnormal mineralization group<br />
Hypophosphatasia, perinatal lethal and infantile forms AR 241500 1p36.1-p34 ALPL Alkaline phosphatase, tissue non-specific<br />
(TNSALP)<br />
Hypophosphatasia, adult form AD 146300 1p36.1-p34 ALPL Alkaline phosphatase, tissue non-specific<br />
(TNSALP)<br />
Hypophosphatemic rickets, X-linked dominant XLD 307800 Xp22 PHEX X-linked hypophosphatemia membrane<br />
<strong>pro</strong>tease<br />
Hypophosphatemic rickets, autosomal dominant AD 193100 12p13.3 FGF23 Fibroblast growth factor 23<br />
Hypophosphatemic rickets, autosomal recessive, type 1 (ARHR1) AR 241520 4q21 DMP1 Dentin matrix acidic phospho<strong>pro</strong>tein 1<br />
POHYBOVÉ ÚSTROJÍ, ročník 19, <strong>2012</strong>, č. 3+4 195<br />
Hypophosphatemic rickets, autosomal recessive, type 2 (ARHR2) AR 613312 6q23 ENPP1 Ectonucleotide pyrophosphatase/phospho<br />
diesterase 1<br />
Hypophosphatemic rickets with hypercalciuria, X-linked recessive XLR 300554 Xp11.22 ClCN5 Chloride channel 5<br />
Hypophosphatemic rickets with hypercalciuria, autosomal recessive (HHRH) AR 241539 9q34 SLC34A3 Sodium-phosphate cotransporter<br />
Neonatal hyperparathyroidism, severe form AR 239200 3q13.3-21 CASR Calcium-sensing receptor<br />
Familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism AD 145980 3q13.3-21 CASR Calcium-sensing receptor<br />
Calcium pyrophosphate deposition disease (familial chondrocalcisnosis) type 2 AD 118600 5p15.2-14.2 ANKH Homolog of mouse ANK (ankylosis) gene<br />
See also Jansen dysplasia and Eiken dysplasia<br />
27. Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis Multiplex<br />
group)<br />
Mucopolysaccharidosis type 1H/1S AR 607014 4p16.3 IDA Alpha-1-Iduronidase<br />
Mucopolysaccharidosis type 2 XLR 309900 Xq27.3-28 IDS Iduronate-2-sulfatase<br />
Mucopolysaccharidosis type 3A AR 252900 17q25.3 HSS Heparan sulfate sulfatase
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