COL1A1 gene related symptoms and diseases
All the information presented here about the COL1A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COL1A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Uncommon - Between 30% and 50% cases |
| Scoliosis | Uncommon - Between 30% and 50% cases |
| Thin skin | Uncommon - Between 30% and 50% cases |
| Wormian bones | Uncommon - Between 30% and 50% cases |
| Bruising susceptibility | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with COL1A1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Atrophic scars
- Joint hyperflexibility
- Tibial bowing
- Increased susceptibility to fractures
- Blue sclerae
- Recurrent fractures
- Abnormal oral cavity morphology
- Hernia
And 129 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COL1A1 gene
Here you will find a list of rare diseases related to the COL1A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OSTEOGENESIS IMPERFECTA TYPE 3
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 3 Is also known as severe osteogenesis imperfecta, osteogenesis imperfecta, progressively deforming, with normal sclerae, progressive deforming osteogenesis imperfecta, oi type 3, oi, type iii
Description
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 3
- Short stature
- Hearing impairment
- Scoliosis
- Micrognathia
- Macrocephaly
More info about OSTEOGENESIS IMPERFECTA TYPE 3
OSTEOGENESIS IMPERFECTA TYPE 4
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 4 Is also known as osteogenesis imperfecta with normal sclerae, oi type 4, oi, type iv
Description
Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI; see this term).
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 4
- Short stature
- Hearing impairment
- Scoliosis
- Kyphosis
- Bruising susceptibility
More info about OSTEOGENESIS IMPERFECTA TYPE 4
OSTEOGENESIS IMPERFECTA TYPE 2
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form, osteogenesis imperfecta congenita, oi type 2, lethal osteogenesis imperfecta, oi, type ii, oic, vrolik type of osteogenesis imperfecta
Description
Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 2
- Microcephaly
- Cataract
- Respiratory insufficiency
- Congestive heart failure
- Abnormality of the dentition
More info about OSTEOGENESIS IMPERFECTA TYPE 2
EHLERS-DANLOS SYNDROME TYPE 1
Alternate names
EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i
Description
Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 1
- Scoliosis
- Hypertension
- Hernia
- Pectus excavatum
- Inguinal hernia
More info about EHLERS-DANLOS SYNDROME TYPE 1
CAFFEY DISEASE
Alternate names
CAFFEY DISEASE Is also known as infantile cortical hyperostosis
Description
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
Most common symptoms of CAFFEY DISEASE
- Short stature
- Scoliosis
- Pain
- Fever
- Abnormality of the skeletal system
More info about CAFFEY DISEASE
ORAL SUBMUCOUS FIBROSIS
Alternate names
ORAL SUBMUCOUS FIBROSIS Is also known as osmf
Description
Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.
Most common symptoms of ORAL SUBMUCOUS FIBROSIS
- Flexion contracture
- Narrow mouth
- Trismus
- Cheilitis
- Abnormality of the pharynx
More info about ORAL SUBMUCOUS FIBROSIS
OSTEOGENESIS IMPERFECTA TYPE 1
Alternate names
OSTEOGENESIS IMPERFECTA TYPE 1 Is also known as van der hoeve syndrome, adair-dighton syndrome, non-deforming osteogenesis imperfecta, oi type 1, mild osteogenesis imperfecta
Description
Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.
Most common symptoms of OSTEOGENESIS IMPERFECTA TYPE 1
- Short stature
- Frontal bossing
- Mandibular prognathia
- Dolichocephaly
- Wormian bones
More info about OSTEOGENESIS IMPERFECTA TYPE 1
EHLERS-DANLOS SYNDROME TYPE 7A
Alternate names
EHLERS-DANLOS SYNDROME TYPE 7A Is also known as eds viia
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 7A
- Short stature
- Muscle weakness
- Joint hyperflexibility
- Thin skin
- Hyperextensible skin
More info about EHLERS-DANLOS SYNDROME TYPE 7A
SOURCES: ORPHANET
DERMATOFIBROSARCOMA PROTUBERANS
Alternate names
DERMATOFIBROSARCOMA PROTUBERANS Is also known as dfsp, giant cell fibroblastoma
Description
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
Most common symptoms of DERMATOFIBROSARCOMA PROTUBERANS
- Neoplasm
- Aggressive behavior
- Erythema
- Leukemia
- Subcutaneous nodule
More info about DERMATOFIBROSARCOMA PROTUBERANS
EHLERS-DANLOS SYNDROME TYPE 2
Alternate names
EHLERS-DANLOS SYNDROME TYPE 2 Is also known as eds ii, eds2, formerly, eds ii, formerly, ehlers danlos syndrome, mitis type, formerly, ehlers danlos syndrome, mild classic type, formerly, ehlers-danlos syndrome, type ii, formerly
Description
The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars (Beighton, 1993). There are both severe and mild forms of classic EDS, previously designated EDS I and EDS II, respectively.For a general phenotypic description and a discussion of genetic heterogeneity of classic EDS, see {130000}.
Most common symptoms of EHLERS-DANLOS SYNDROME TYPE 2
- Hypertension
- Hernia
- Pectus excavatum
- Inguinal hernia
- Gastroesophageal reflux
More info about EHLERS-DANLOS SYNDROME TYPE 2
EHLERS-DANLOS SYNDROME, VASCULAR-LIKE TYPE
Alternate names
EHLERS-DANLOS SYNDROME, VASCULAR-LIKE TYPE Is also known as eds, vascular-like type
Description
Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.
More info about EHLERS-DANLOS SYNDROME, VASCULAR-LIKE TYPE
SOURCES: ORPHANET
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME
Alternate names
EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME Is also known as eds/oi syndrome
Description
Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
More info about EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA SYNDROME
SOURCES: ORPHANET
HIGH BONE MASS OSTEOGENESIS IMPERFECTA
Alternate names
HIGH BONE MASS OSTEOGENESIS IMPERFECTA Is also known as high bone mass oi
Description
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with mutiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
More info about HIGH BONE MASS OSTEOGENESIS IMPERFECTA
SOURCES: ORPHANET
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