CST3 gene related symptoms and diseases
All the information presented here about the CST3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CST3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Stroke | Uncommon - Between 30% and 50% cases |
| Amyloidosis | Uncommon - Between 30% and 50% cases |
| Cerebral amyloid angiopathy | Uncommon - Between 30% and 50% cases |
| Cerebral hemorrhage | Uncommon - Between 30% and 50% cases |
| Flexion contracture | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with CST3 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormal oral cavity morphology
- Abnormality of the pharynx
- Cheilitis
- Trismus
- Narrow mouth
- Generalized amyloid deposition
- Macular degeneration
- Senile plaques
And 5 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CST3 gene
Here you will find a list of rare diseases related to the CST3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACYS AMYLOIDOSIS
Alternate names
ACYS AMYLOIDOSIS Is also known as hereditary cerebral hemorrhage with amyloidosis, icelandic type, cystatin amyloidosis, cst3-related amyloidosis, hereditary cystatin c amyloid angiopathy, hchwa, icelandic type
Description
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
Most common symptoms of ACYS AMYLOIDOSIS
- Stroke
- Cerebral hemorrhage
- Amyloidosis
- Cerebral amyloid angiopathy
More info about ACYS AMYLOIDOSIS
SOURCES: ORPHANET
CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
Alternate names
CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED Is also known as amyloidosis vi, hereditary cerebral hemorrhage with amyloidosis, hchwa, cerebral hemorrhage, hereditary, with amyloidosis, amyloidosis, cerebroarterial, icelandic type
Description
Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).
Most common symptoms of CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
- Seizures
- Dementia
- Mental deterioration
- Stroke
- Intracranial hemorrhage
More info about CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
SOURCES: OMIM
MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
Most common symptoms of MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
- Macular degeneration
More info about MACULAR DEGENERATION, AGE-RELATED, 11; ARMD11
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
Search interest in CST3
Potential gene panels for CST3 gene
CST3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CST3 gene.
More info about this panel Spain.
Cerebral amyloid angiopathy (sequence analysis of CST3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CST3 gene.
More info about this panel Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Hereditary amyloidosis (NGS panel of 19 genes) Panel
Portugal.
By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Portugal.
Vascular and connective tissue diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1
More info about this panel Germany.
Macular degeneration, age-related type 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CST3 gene.
More info about this panel Germany.
Cerebral amyloid angiopathy Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CST3 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Macular Degeneration NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3
More info about this panel United States.
CST3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CST3 gene.
More info about this panel United States.
Cerebral amyloid angiopathy, Panel
Spain.
By Bioarray
This panel specifically test the CST3 gene.
More info about this panel Spain.
AMYLOIDOSIS HEREDITARY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN
More info about this panel Spain.
Hereditary Cerebral Amyloid Angiopathy, Sequencing CST3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CST3 gene.
More info about this panel Spain.
Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel
Spain.
By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4
More info about this panel Spain.
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