Mutation in the COL2A1 Gene Causes & Reasons

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Mutation in the COL2A1 Gene Symptom Checker: Possible causes include Non-Syndromic Ocular Stickler Syndrome Type 1 . Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Non-Syndromic Ocular Stickler Syndrome Type 1

DNA analysis revealed heterozygous mutation c.2710C T (p.Arg904Cys) in exon 41 of COL2A1 gene. [hindawi.com]

@article{Go2003AutosomalDR, title {Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.}, author {Sioe Lie Go and [semanticscholar.org]

In family A, DNA sequence analysis revealed no mutation in the coding region and at the splice sites of the COL2A1 gene. [ncbi.nlm.nih.gov]

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Stickler Syndrome

1993] was used to screen for mutations in the entire COL2A1 gene in an affected member from the kindred. [ncbi.nlm.nih.gov]

PURPOSE: To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. [ncbi.nlm.nih.gov]

Null-allele mutations in the COL2A1 gene led to a typical phenotype of Stickler syndrome. [ncbi.nlm.nih.gov]

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Spondyloepiphyseal Dysplasia Congenita

SEDC is caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). [ncbi.nlm.nih.gov]

To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC) and to analyze [ncbi.nlm.nih.gov]

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [journals.plos.org]

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Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

To identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC) and to analyze [ncbi.nlm.nih.gov]

The mutation, which resides in the triple-helical region of type II procollagen at amino acid position 75, is the second example of an Arg-- Cys mutation in the COL2A1 gene [ncbi.nlm.nih.gov]

Screening for mutations in the COL2A1 gene using PCR-denaturing gradient get electrophoresis suggested a sequence variation in exon 19 of one allele of the COL2A1 gene in [ncbi.nlm.nih.gov]

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Kniest Dysplasia

Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. [en.wikipedia.org]

Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and [ncbi.nlm.nih.gov]

Term Name: Kniest dysplasia Search Ontology: Synonyms: Definition: An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism [zfin.org]

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Spondyloperipheral Dysplasia

Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules. [en.wikipedia.org]

Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Spondyloperipheral dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene, located on chromosome 12q13.11-q13.2. [en.wikipedia.org]

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Spondyloepimetaphyseal Dysplasia Type Strudwick

Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [en.wikipedia.org]

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1):87-9. [ghr.nlm.nih.gov]

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X-Linked Spondyloepimetaphyseal Dysplasia

Mutation in the COL2A1 gene in a patient with hypochondrogenesis. [journals.plos.org]

[…] in the COL2A1 gene. [ipfs.io]

A form of dwarfism (skeletal dysplasia) Affects bone growth Linked to Chromosome 12q13 Can be caused by a mutation in the COL2A1 gene Can be inherited from parents who also [littlepeopleuk.org]

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Stickler Syndrome Type 2

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

A second mutation in type II procollagen gene ( COL2A1 ) causing Stickler syndrome is also a premature termination codon. [nature.com]

Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p. Synonym(s): Stickler syndrome. [medical-dictionary.thefreedictionary.com]

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Autosomal Dominant Oto-Spondylo-Megaepiphyseal Dysplasia

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

COL2A1 gene. [omicsonline.org]

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Stickler Syndrome Type 5

Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. [diseaseinfosearch.org]

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

Mutations in the COL2A1 gene cause Stickler syndrome, type I. Individuals with mutations in exon 2 of the COL2A1 gene have an ocular variant of Stickler syndrome. [slideplayer.com]

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Spondyloepiphyseal Dysplasia Type Cantú

Etiology SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). Genetic counseling The inheritance is autosomal dominant. [orpha.net]

[…] in the COL2A1 gene. [en.wikipedia.org]

SEDC is caused by mutations in the type II collagen ( COL2A1 ) gene. [rarediseases.org]

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Hypochondrogenesis

This condition is caused by new mutations in the COL2A1 gene. [en.wikipedia.org]

What genes are related to hypochondrogenesis? Mutations in the COL2A1 gene cause hypochondrogenesis. [medic8.com]

Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. [ghr.nlm.nih.gov]

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Achondrogenesis Type 2

Mutations in a gene called COL2A1 cause achondrogenesis type II, which is the most severe condition in a spectrum of disorders caused by mutations in the COL2A1 gene. [medicinenet.com]

mutations of the COL2A1 gene. [emedicine.medscape.com]

Achondrogenesis, type 2 is one of several skeletal disorders caused by mutations in the COL2A1 gene. [the-medical-dictionary.com]

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Achondrogenesis

Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

mutations of the COL2A1 gene. [emedicine.medscape.com]

This interpretation implies that dominant mutations of the COL2A1 gene may cause type II achondrogenesis-hypochondrogenesis. [ncbi.nlm.nih.gov]

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Achondrogenesis Type 1B

Type 2 achondrogenesis is inherited in an autosomal dominant pattern and is caused by new (de novo) mutations in the COL2A1 gene. [diseaseinfosearch.org]

mutations of the COL2A1 gene. [emedicine.medscape.com]

Mutations in a gene called COL2A1 cause achondrogenesis type II, which is the most severe condition in a spectrum of disorders caused by mutations in the COL2A1 gene. [medicinenet.com]

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Legg-Calve-Perthes Disease

Mutations in the COL2A1 gene can cause bone abnormalities characteristics Calve Legg-Perthes. [ivami.com]

We report 2 generations of 4 male family members with LCPD-like features and mutation of the COL2A1 gene of the 12q13 chromosome. [ncbi.nlm.nih.gov]

We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. [ncbi.nlm.nih.gov]

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Skeletal Dysplasia

In humans, mutations in the COL2A1 gene encoding the α1(II) chain of type II collagen, create many clinical phenotypes collectively termed type II collagenopathies. [ncbi.nlm.nih.gov]

Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. [ncbi.nlm.nih.gov]

A genetic mutation from the COL2A1 gene is the main cause of the skeletal disease. Metaphyseal chondrodysplasia. [howshealth.com]

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Snowflake Vitreoretinal Degeneration

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

2 of the COL2A1 gene. [ncbi.nlm.nih.gov]

The remainder with the type 2 vitreous phenotype have mutations in COL11A1 or other loci yet to be identified. [jmg.bmj.com]

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Familial Calcium Pyrophosphate Deposition

Mutations in the COL2A1 gene have been identified in one family with spondyloepiphyseal dysplasia and secondary deposits of pyrophosphate and apatite crystalline deposits. [ncbi.nlm.nih.gov]

Bleasel JF, Bisagni-Faure A, Holderbaum D: Type procollagen gene (COL2A1 mutation in exon II associated with spon-dyloepiphyseal dysplasia, tall stature and osteoarthritis [link.springer.com]

Bleasel JF, Holderbaum D, Mallock V, et al. : Hereditary with mild spondyloepiphyseal dysplasia—are there "hot spots" on COL2A1. J Rheum 1996, 1594–1598. [link.springer.com]

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Osteoarthritis

Molecular testing of the COL2A1 gene revealed a p.Gly204Val mutation. The mutation was absent in the healthy mother. [ncbi.nlm.nih.gov]

METHODS: We report a patient with severe polyarticular OA starting in young adulthood due to a heterozygous mutation in the COL2A1 gene. [ncbi.nlm.nih.gov]

Bleasel JF, Bisagnifaure A, Holderbaum D: Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia; tall stature and precocious osteoarthritis [arthritis-research.biomedcentral.com]

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Avascular Necrosis of the Femoral Head

[…] which lead to COL2A1 gene dysfunction. [ncbi.nlm.nih.gov]

A mutation of the COL2A1 gene was detected. RESULT: In our research, we identify a heterozygous mutation (c.1888 G A, p. [ncbi.nlm.nih.gov]

Furthermore, by using haplotype analysis and gene-based mutation detection, we have identified the collagen type II, alpha 1 (COL2A1) gene, as the ANFH disease gene. [clinicaltrials.gov]

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Osteoporosis

The majority of mutations occur in the COL2A1 gene on chromosome 12q13 (SS type I). Mutations in COL11A1 are less frequent (SS type II). [ncbi.nlm.nih.gov]

Abstract The Stickler syndrome (SS) has been described as a "hereditary progressive arthro-ophtalmopathy" by Stickler in 1965, due to mutations on the collagen genes. [ncbi.nlm.nih.gov]

Currently about 40 different genes have been identified which encode for at least 27 different collagens. [ncbi.nlm.nih.gov]

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X-Linked Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

Mutation of the COL2A1 gene is responsible. [advancedradteaching.com]

[…] in the COL2A1 gene. [en.wikipedia.org]

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Calcium Pyrophosphate Arthropathy

Mutations in the collagen α-1(II) chain gene (COL2A1; 12q12-13.2), that codes for the major structural protein of cartilage, have been found to cause a particular form of [orpha.net]

The major structural proteins of cartilage are encoded in a gene named COL2A1 located on chromosome 12q; its mutation can result in defective collagen production, causing [cureus.com]

Other causative genes are yet to be determined. [orpha.net]

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High Myopia-Sensorineural Deafness Syndrome

Molecular Genetic Testing Mutations in three genes, COL2A1, COL11A1, and COL11A2 ... [ibis-birthdefects.org]

No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for glutamate at [genome.jp]

[…] in COL2A1 gene on chromosome 12 24. [slideshare.net]

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Vitreoretinal Degeneration

Genetics This is an autosomal dominant disease of collagen formation as a result of mutations in the COL2A1 gene (12q13.11-q13.2). [disorders.eyes.arizona.edu]

Types I and II Stickler syndrome, respectively caused by mutations in the COL2A1 gene encoding type II collagen 44 and in the COL11A1 gene encoding type XI collagen, 45 can [clinicalgate.com]

2 of the COL2A1 gene. [ncbi.nlm.nih.gov]

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Gastric Ulcer

Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. [ghr.nlm.nih.gov]

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. [ghr.nlm.nih.gov]

Mutations in several genes cause the different types of Stickler syndrome. [ghr.nlm.nih.gov]

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Spondylo-Ocular Syndrome

The majority of families with Stickler syndrome have mutations in the COL2A1 gene and show the characteristic type 1 vitreous phenotype. [jmg.bmj.com]

These mutations cause loss of function of the COL2A1 gene. The majority of these mutations are associated with normal stature and early onset osteoarthritis. [rarediseases.org]

Other types of mutations in the COL2A1 gene have been associated with spondyloepiphyseal dysplasia congenita, Kniest dysplasia, achondrogenesis type II, hypochondrogenesis [jmg.bmj.com]

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Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Cause [ edit ] This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. [en.wikipedia.org]

SEDC is caused by mutations in the type II collagen ( COL2A1 ) gene. [rarediseases.org]

Stickler syndrome has been associated with stop mutations in COL2A1 and with missense and splicing mutations in all of the three genes. [encyclopedia.com]

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