Table 1.
Core matrisome components associated with genetic disease
| Gene Symbol | Disease | OMIM |
|---|---|---|
| ECM glycoproteins | ||
| AGRN | Myasthenic syndrome, congenital, 8 | 615120 |
| AMBN | Amelogenesis imperfecta, type 1F | 616270 |
| AMELX | Amelogenesis imperfecta, type 1E | 301200 |
| BMPER | Diaphanospondylodysostosis | 608022 |
| CILP | Intervertebral disc disease (susceptibility) | 603932 |
| COCH | Deafness, autosomal dominant, 9 | 601369 |
| COLQ | Myasthenic syndrome, congenital, 5 | 603034 |
| COMP | Pseudoachondroplasia; epiphyseal dysplasia, multiple, 1 | 177170, 132400 |
| CRELD1 | Trioventricular septal defect (susceptibility) | 606217 |
| CTHRC1 | Barrett esophagus | 614266 |
| DMP1 | Hypophosphatemic rickets, autosomal recessive | 241520 |
| DSPP | Deafness, autosomal dominant 39; dentinogenesis imperfecta, shields type III; dentin dysplasia, type II; dentinogenesis imperfecta 1 | 605594, 125500, 125420, 125490 |
| ECM1 | Lipoid proteinosis of Urbach and Wiethe | 247100 |
| EFEMP1 | Doyne honeycomb retinal dystrophy | 126600 |
| EFEMP2 | Cutis laxa, autosomal recessive, type 1B | 614437 |
| ELN | Supravalvular aortic stenosis, cutis laxa, autosomal dominant 1 | 185500, 123700 |
| EYS | Retinitis pigmentosa 25 | 602772 |
| FBLN1 | Synpolydactyly 2 | 608180 |
| FBLN5 | Cutis laxa, autosomal recessive, type IA; cutis laxa, autosomal dominant 2; neuropathy, hereditary, with or without age‐related macular degeneration | 219100, 614434, 608895 |
| FBN1 | Marfan syndrome, ectopia lentis 1, isolated, autosomal dominant; Marfan lipodystrophy syndrome | 154700, 129600, 616914 |
| FBN2 | Arthrogryposis, distal, type 9, macular degeneration, early‐onset | 121050, 616118 |
| FGA | Dysfibrinogenemia, congenital | 616004 |
| FGB | Dysfibrinogenemia, congenital | 616004 |
| FGG | Dysfibrinogenemia, congenital | 616004 |
| FN1 | Spondylometaphyseal dysplasia, corner fracture type; glomerulopathy with fibronectin deposits 2 | 184255, 601894 |
| FRAS1 | Fraser syndrome 1 | 219000 |
| GLDN | Lethal congenital contracture syndrome 11 | 617194 |
| HMCN1 | Macular degeneration, age‐related, 1 | 603075 |
| IGFALS | Acid‐labile subunit deficiency | 615961 |
| IGFBP7 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | 614224 |
| KAL1 | Hypogonadotropic hypogonadism 1 with or without anosmia | 308700 |
| LAMA1 | Poretti–Boltshauser syndrome | 615960 |
| LAMA2 | Muscular dystrophy, congenital merosin‐deficient, 1A | 607855 |
| LAMA3 | Epidermolysis bullosa, junctional, herlitz type | 226700 |
| LAMA4 | Cardiomyopathy, dilated, 1 | 615235 |
| LAMB1 | Lissencephaly 5 | 615191 |
| LAMB2 | Pierson syndrome; nephrotic syndrome, type 5, with or without ocular abnormalities | 609049 614199 |
| LAMB3 | Epidermolysis bullosa, junctional, herlitz and non‐herlitz types | 226650 |
| LAMC1 | Epidermolysis bullosa, junctional, non‐herlitz type | 226650 |
| LAMC2 | Epidermolysis bullosa, junctional, non‐herlitz type | 226650 |
| LAMC3 | Cortical malformations, occipital | 614115 |
| LGI1 | Epilepsy, familial temporal lobe, 1 | 600512 |
| LGI4 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | 617468 |
| LTBP2 | Glaucoma 3, primary congenital, D; Weill–Marchesani syndrome 3 | 613086, 614819 |
| LTBP3 | Dental anomalies and short stature | 601216 |
| LTBP4 | Cutis laxa, autosomal recessive, type IC | 613177 |
| MATN3 | Epiphyseal dysplasia, multiple, 5; spondyloepimetaphyseal dysplasia, matrilin‐3 related | 607078, 608728 |
| MFAP5 | Aortic aneurysm, familial thoracic 9 | 616166 |
| MGP | Keutel syndrome | 245150 |
| OTOG | Deafness, autosomal recessive 18B | 614945 |
| PXDN | Anterior segment dysgenesis 7 | 269400 |
| RELN | Lissencephaly 2; epilepsy, familial temporal lobe, 7 | 257320, 616436 |
| RSPO1 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal | 610644 |
| RSPO2 | Tetraamelia syndrome 2 | 618021 |
| RSPO4 | Nail disorder, nonsyndromic congenital, 4 | 206800 |
| SMOC1 | Microphthalmia with limb anomalies | 206920 |
| SMOC2 | Dentin dysplasia, type I | 125400 |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia, X‐linked | 300643 |
| TECTA | Deafness, autosomal recessive 21; deafness, autosomal dominant 12 | 603629, 601543 |
| TGFBI | Corneal dystrophy—several types—Avellino type; lattice type I; Reis–Bucklers type; Thiel–Behnke type; lattice type IIIA; epithelial basement membrane | 607541, 122200, 608470, 602082, 608471, 121820 |
| THBS2 | Intervertebral disc disease (susceptibility) | 603932 |
| TNXB | Ehlers–Danlos syndrome, classic‐like; vesicoureteral reflux 8 | 606408, 615963 |
| TSPEAR | Deafness, autosomal recessive 98 | 614861 |
| VWA3B | Spinocerebellar ataxia, autosomal recessive 22 | 616948 |
| VWF | Von Willebrand disease, Types 1, 2, and 3 | 193400, 613554, 277480, |
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood | 208230 |
| ZP1 | Oocyte maturation defect 1 | 615774 |
| ZP3 | Oocyte maturation defect 3 | 617712 |
| Collagens | ||
| COL1A1 | Osteogenesis imperfecta, types I, II, III, IV (also called OI1, 2, 3, 4); Caffey disease; Ehlers–Danlos syndrome, arthrochalasia type, 1 | 166200, 166210, 259420, 166220, 114000, 130060 |
| COL1A2 | Osteogenesis imperfecta, types I, II, III, IV (also called OI1, 2, 3, 4); Ehlers–Danlos syndrome, arthrochalasia type 2; Ehlers–Danlos syndrome, Cardiac valvular type | 166200, 166210, 259420, 617821, 225320 |
| COL2A1 | Stickler syndrome, type I; Stickler syndrome, type I, nonsyndromic ocular; spondyloepiphyseal dysplasia congenita; kniest dysplasia; avascular necrosis of femoral head, primary, 1; achondrogenesis, type II; Czech dysplasia. osteoarthritis with mild chondrodysplasia; platyspondylic lethal skeletal dysplasia, Torrance type; spondyloepiphyseal dysplasia, Stanescu type; spondyloepimetaphyseal dysplasia, Strudwick type; spondyloperipheral dysplasia; epiphyseal dysplasia, multiple, with myopia and conductive deafness; Legg‐Calve‐Perthes disease | 108300, 609508, 183900, 156550, 608805, 200610, 609162, 604864, 151210, 616583, 184250, 271700, 132450, 150600 |
| COL3A1 | Ehlers–Danlos syndrome, vascular type | 130050 |
| COL4A1 | Brain small vessel disease with or without ocular anomalies; angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; porencephaly 1; hemorrhage, intracerebral (susceptibility); schizencephaly | 607595, 175780, 614519, 26160 |
| COL4A2 | Porencephaly 2; hemorrhage, intracerebral (susceptibility) | 614483, 614519 |
| COL4A3 | Alport syndrome, autosomal recessive and autosomal dominant, hematuria, benign familial | 203780, 104200, 141200 |
| COL4A4 | Alport syndrome, autosomal recessive, and autosomal dominant | 203780, 104200 |
| COL4A5 | Alport syndrome, X‐linked | 301050 |
| COL4A6 | Leiomyomatosis, diffuse, with Alport syndrome; deafness, X‐linked 6 | 308940, 300914 |
| COL5A1 | Ehlers–Danlos syndrome, classic type, 1 | 130000 |
| COL5A2 | Ehlers–Danlos syndrome, classic type, 2 | 130010 |
| COL6A1 | Ullrich congenital muscular dystrophy 1; Bethlem myopathy 1 | 254090, 158810 |
| COL6A2 | Ullrich congenital muscular dystrophy 1; Bethlem myopathy 1; myosclerosis, autosomal recessive | 254090, 158810, 255600 |
| COL6A3 | Ullrich congenital muscular dystrophy 1; Bethlem myopathy 1; myosclerosis, autosomal recessive; dystonia 27 | 254090, 158810, 255600, 616411 |
| COL7A1 | Epidermolysis bullosa dystrophica, autosomal recessive and autosomal dominant; nail disorder, nonsyndromic congenital, 8 | 226600, 131750, 607523 |
| COL9A1 | Stickler syndrome, type IV; epiphyseal dysplasia, multiple, 6 | 614134, 614135 |
| COL9A2 | Epiphyseal dysplasia, multiple, 2; Stickler syndrome, type V | 600204, 614284 |
| COL9A3 | Epiphyseal dysplasia, multiple, 3 | 600969 |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid type | 156500 |
| COL11A1 | Stickler syndrome, type II; Marshall syndrome; fibrochondrogenesis 1 | 604841, 154780, 228520 |
| COL11A2 | Otospondylomegaepiphyseal dysplasia, autosomal dominant and autosomal recessive; deafness, autosomal recessive 53; fibrochondrogenesis 2 | 184840, 215150, 609706, 614524 |
| COL12A1 | Bethlem myopathy 2; Ullrich congenital muscular dystrophy 2 | 616471, 616470 |
| COL13A1 | Myasthenic syndrome, congenital, 19 | 616720 |
| COL15A1 | Knobloch syndrome 1 | 267750 |
| COL17A1 | Epidermolysis bullosa, junctional, non‐Herlitz type; epithelial recurrent erosion dystrophy | 226650, 122400 |
| COL18A1 | Knobloch syndrome 1 | 267750 |
| COL25A1 | Fibrosis of extraocular muscles, congenital, 5 | 616219 |
| COL27A1 | Steel syndrome | 615155 |
| Proteoglycans | ||
| ACAN | Short stature and advanced bone age, with or without early‐onset osteoarthritis and/or osteochondritis dissecans; spondyloepiphyseal dysplasia, Kimberley type; spondyloepimetaphyseal dysplasia, aggrecan type | 165800, 608361, 612813 |
| ASPN | Osteoarthritis susceptibility 3 (susceptibility); intervertebral disc disease (susceptibility) | 607850, 603932 |
| BGN | Meester–Loeys syndrome; spondyloepimetaphyseal dysplasia, X‐linked | 300989 |
| DCN | corneal dystrophy, congenital stromal | 610048 |
| HSPG2 | Schwartz–Jampel syndrome, type 1; dyssegmental dysplasia, Silverman‐Handmaker type | 255800, 224410 |
| IMPG1 | Macular dystrophy, vitelliform, 4 | 616151 |
| IMPG2 | Retinitis pigmentosa 56; macular dystrophy, vitelliform, 5 | 613,581, 616152 |
| KERA | Cornea plana 2, autosomal recessive | 217300 |
| NYX | Night blindness, congenital stationary, type 1A | 310500 |
| PRG4 | Camptodactyly‐arthropathy‐coxa vara‐pericarditis syndrome | 208250 |
| VCAN | Wagner vitreoretinopathy | 143200 |
| ACAN | Short stature and advanced bone age, with or without early‐onset osteoarthritis and/or osteochondritis dissecans; spondyloepiphyseal dysplasia, Kimberley type; spondyloepimetaphyseal dysplasia, aggrecan type | 165800, 608361, 612813 |
| ASPN | Osteoarthritis susceptibility 3 (susceptibility); intervertebral disc disease (susceptibility) | 607850, 603932 |
| BGN | Meester–loeys syndrome; spondyloepimetaphyseal dysplasia, X‐linked | 300989 |
| DCN | Corneal dystrophy, congenital stromal | 610048 |
| HSPG2 | Schwartz–Jampel syndrome, type 1; dyssegmental dysplasia, Silverman‐Handmaker type | 255800, 224410 |
| IMPG1 | Macular dystrophy, vitelliform, 4 | 616151 |
| IMPG2 | Retinitis pigmentosa 56; macular dystrophy, vitelliform, 5 | 613581, 616152 |