Type II Collagen Disorders Overview - GeneReviews® - NCBI Bookshelf Warning: The NCBI web site requires JavaScript to

of collagen VI in dermal fibroblast cultures may demonstrate loss of collagen VI matrix deposition or

COL1A2 collagen type I alpha 2 chain - NIH Genetic Testing Registry (GTR) - NCBI Warning: The NCBI

COL11A2 collagen type XI alpha 2 chain - NIH Genetic Testing Registry (GTR) - NCBI Warning: The NCBI

COL1A1 collagen type I alpha 1 chain - NIH Genetic Testing Registry (GTR) - NCBI Warning: The NCBI

CCBE1 collagen and calcium binding EGF domains 1 - NIH Genetic Testing Registry (GTR) - NCBI Warning: The

Related literature resources in PubMed Recent activity Clear Turn Off Turn On Decreased dermal collagen Decreased dermal collagen MedGen

Intracellular accumulation of collagen VII (Concept Id: C5826823) - MedGen - NCBI Warning: The NCBI web site requires JavaScript

Abnormal circulating collagen degradation product concentration (Concept Id: C5539552) - MedGen - NCBI Warning: The NCBI web site requires

collagen fibrils Decreased dermal collagen Intracellular accumulation of collagen VII Luse bodies Reduced epidermal collagen IV alpha 5 chain

Homo sapiens collagen type I alpha 1 chain (COL1A1), RefSeqGene (LRG_1 - Nucleotide - NCBI Warning: The NCBI web

Homo sapiens collagen type I alpha 1 chain (COL1A1), RefSeqGene (LRG_1 - Nucleotide - NCBI Warning: The NCBI web

COL1A2 collagen type I alpha 2 chain [Homo sapiens (human)] - Gene - NCBI Warning: The NCBI web

GLCC; KNO1 Summary This gene encodes the alpha chain of type XVIII collagen. This collagen is one

COL1A1 collagen type I alpha 1 chain [Homo sapiens (human)] - Gene - NCBI Warning: The NCBI web

COL8A2 collagen type VIII alpha 2 chain [Homo sapiens (human)] - Gene - NCBI Warning: The NCBI web

870264 • Concept ID: C4024703 • Finding HPO: HP:0008320 Definition Abnormal response to collagen or collagen-mimetics as manifested by

Homo sapiens collagen type V alpha 1 chain (COL5A1), transcript varian - Nucleotide - NCBI Warning: The NCBI web

preferentially type III collagen over other fibrillar collagens, and MMP-8 cleaves type I collagen most efficiently. 79 MMP

the condition. COL4A3 152 tests Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3 Summary: collagen type IV alpha 3

due to infection risks.  Biosynthetic products are a mixture of bovine collagen, synthetic elements, human allograft

guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted

to the condition. COL8A2 21 tests Also known as: FECD, FECD1, PPCD, PPCD2, COL8A2 Summary: collagen type VIII alpha 2

the condition. COL4A3 152 tests Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3 Summary: collagen type IV alpha 3

is thin and comprises capillaries and various connective tissues like elastin, mainly collagen type III, and

such as laser therapy, microneedling, and radiofrequency—may improve texture and stimulate collagen, but standardized treatment protocols

glycosylate collagen IV properly, which causes embryonic lethality, and deposition of misfolded collagen in the

such as laser therapy, microneedling, and radiofrequency—may improve texture and stimulate collagen, but standardized treatment protocols

to the condition. COL11A1 187 tests Also known as: CO11A1, COLL6, DFNA37, STL2, COL11A1 Summary: collagen type XI alpha 1

the condition. COL4A3 154 tests Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3 Summary: collagen type IV alpha 3

the condition. COL4A3 154 tests Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3 Summary: collagen type IV alpha 3

due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized

collagen fibrils Decreased dermal collagen Intracellular accumulation of collagen VII Luse bodies Reduced epidermal collagen IV alpha 5 chain

abnormal anchoring fibrils) and/or immunofluorescent antibody/antigen mapping of the collagen alpha-1(VII) chain

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These

compartment, predominantly calcium hydroxyapatite and an organic matrix, osteoid, composed principally of collagen and non

and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene (COL18A1

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

of normal type I collagen and abnormal disulfide crosslinking, either within or between abnormal collagen fibrils. These findings have

to the condition. COL4A4 129 tests Also known as: ATS2, BFH, BFH1, CA44, COL4A4 Summary: collagen type IV alpha 4

compartment, predominantly calcium hydroxyapatite and an organic matrix, osteoid, composed principally of collagen and non

generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of

and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The

6–8) This pathway was first recognized in the 1960s as acting on collagen and has

blistering of the skin Blistering by anatomical location Blistering by histological location Abnormal cutaneous collagen fibril morphology Cauliflower deformity

hierarchy. COL1A1 267 tests Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1 Summary: collagen type I alpha 1

JEB generalized severe or JEB generalized intermediate Abnormal or absent staining with antibodies to collagen XVII in JEB

Stickler syndrome. This is in contrast to other, more severe type II collagen disorders such as COL2A1

and angio-genesis. Inflammatory reactions and reparative processes, including cell proliferation and collagen synthesis following tissue injuries

a pathogenic variant cannot be identified on molecular genetic testing , a type V collagen abnormality can sometimes be

in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150

of genotype-phenotype correlation in patients with a lethal type II collagen disorder. Mortier GR, Weis

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

delivery to ischemic/hypoxic tissues, enhanced white blood cell-mediated bacterial killing, angiogenesis, accelerated collagen synthesis and fibroblast

COL4A4 , and COL4A5 that result in abnormalities of the collagen IV α345 network of

COL11A2 183 tests Also known as: DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3, COL11A2 Summary: collagen type XI alpha 2

DiffDx Disorder Overlapping w/PPD Distinguishing from PPD COL2A1 Spondyloepimetaphyseal dysplasia, Strudwick type (See Type II Collagen Disorders Overview .) AD Severe

attached gingiva is tightly and unmovably bound to the periosteum via collagen type I fibers as

Transmission electron microscopy of the stroma shows layers of apparently normal collagen fibrils separated by abnormal

in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150

ANFH, ANFH1, AOM, COL11A3, EDMMD, LCPD, OSCDP, PLSDT, SEDC, SEDSTN, SEMDSTWK, SMDALG, STL1, VPED, COL2A1 Summary: collagen type II alpha 1

to the condition. COL4A4 130 tests Also known as: ATS2, BFH, BFH1, CA44, COL4A4 Summary: collagen type IV alpha 4

condition. COL1A1 267 tests Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1 Summary: collagen type I alpha 1

15536017 ] 5. Flurkey K., et al. Lifespan extension and delayed immune and collagen aging in mutant

A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis. Ishikawa Y, Bächinger

It is made up of a dense network of tough, elastic collagen fibers. These make the

protein to stabilize the complex. In addition, cartilage matrix contains collagen (not shown) and

cases, the tendon's degeneration is characterized by loss of strong parallel collagen I fibers, fatty infiltration

subcutaneous tissue. The dermis is a fibrous structure composed of collagen, elastic tissue, and

acidic matrix-associated protein. The encoded protein is required for the collagen in bone

MRI in LAMA2 -MD is similar to that of the collagen VI myopathies (see Differential

embody other functions, such as the protease-binding sites in the collagen-like domains of

sulfate, or keratan sulfate chains. These proteoglycans help to stabilize and organize collagen fibers but have other

condition. COL1A1 267 tests Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1 Summary: collagen type I alpha 1

Activity Fibrosarcoma is defined as a neoplasm composed of fibroblasts with variable collagen production. A rare

is only partially understood [ Baumann et al 2012 ]. Pathology findings include the following: Normal collagen biosynthesis and secretion

al 2002 ]. The facies in CD resembles the type 2 collagen disorders (e.g., Stickler syndrome

vascular smooth muscle cells and a marked excess of aortic wall collagen. These characteristics are observed

electrophoresis (SDS-PAGE) can be used to detect faster migration of underhydroxylated collagen chains and their

its catalytic site that allow binding of denatured type IV and V collagen and elastin

surrounded by a thick, hyaline membrane consisting of extracellular matrix proteins (including collagen IV and VII

On skin biopsy, PXE does not have the same extent of abnormal collagen fibers near the

in most individuals with absent or decreased response to arachidonic acid and collagen. Platelets from these individuals

21q22.3)   Monarch Initiative: MONDO:0024530 OMIM ® : 158810 Disease characteristics Excerpted from the GeneReview: Collagen VI-Related Dystrophies Collagen

which in turn reduces attachment of metastatic tumor cells to collagen type IV and

373424008)   HPO: HP:0012038 Definition Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior

disorders usually result from a COL4A1 pathogenic missense variant that disrupts the collagen triple helix (see Molecular

progressive Normal level of serum hydrolases COL2A1 Osteoarthritis w/mild chondrodysplasia (See Type II Collagen Disorders Overview .) AD Joint

Abnormality of metabolism/homeostasis Abnormal circulating metabolite concentration Abnormal circulating organic compound concentration Abnormal circulating collagen degradation product concentration Elevated

its catalytic site that allow binding of denatured type IV and V collagen and elastin

contribute to the condition. CCBE1 56 tests Also known as: HKLLS1, CCBE1 Summary: collagen and calcium

condition. COL1A1 267 tests Also known as: CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4, COL1A1 Summary: collagen type I alpha 1

in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150

Imperfecta Type IX ; Osteogenesis imperfecta sillence type II/III without abnormality of type I collagen ; PPIB-Related Osteogenesis Imperfecta

directly to glycan ligands. The fibronectin type II domain binds to collagen, which is a

family of soluble and membrane-bound CTLs that contain a collagen-like domain amino-terminal

or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. See