ITM2B gene related symptoms and diseases
All the information presented here about the ITM2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ITM2B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Dementia | Very Common - Between 80% and 100% cases |
| Ataxia | Common - Between 50% and 80% cases |
| Cerebral amyloid angiopathy | Common - Between 50% and 80% cases |
| Spasticity | Common - Between 50% and 80% cases |
| Neurofibrillary tangles | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ITM2B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tremor
Not very common - Between 30% and 50% cases
- Hypertonia
- Hearing impairment
- Optic disc pallor
- Retinal dystrophy
- Nyctalopia
- Pallor
- Photophobia
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ITM2B gene
Here you will find a list of rare diseases related to the ITM2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ABRI AMYLOIDOSIS
Alternate names
ABRI AMYLOIDOSIS Is also known as presenile dementia with spastic ataxia, fbd, cerebral amyloid angiopathy, british type, familial dementia, british type, dementia, familial british
Description
ABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.
Most common symptoms of ABRI AMYLOIDOSIS
- Ataxia
- Spasticity
- Hyperreflexia
- Tremor
- Hypertonia
More info about ABRI AMYLOIDOSIS
ADAN AMYLOIDOSIS
Alternate names
ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica, dementia, familial danish, hooe, cerebellar ataxia, cataract, deafness, and dementia or psychosis, familial dementia, danish type, fdd, familial danish dementia
Description
ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.
Most common symptoms of ADAN AMYLOIDOSIS
- Hearing impairment
- Ataxia
- Cataract
- Spasticity
- Tremor
More info about ADAN AMYLOIDOSIS
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES
Alternate names
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES Is also known as retinal dystrophy with inner nuclear layer and ganglion cell anomalies
Description
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.
Most common symptoms of RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES
- Dementia
- Photophobia
- Pallor
- Nyctalopia
- Retinal dystrophy
More info about RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES
Search interest in ITM2B
Potential gene panels for ITM2B gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
ITM2B . Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ITM2B gene.
More info about this panel Spain.
Cerebral amyloid angiopathy (sequence analysis of ITM2B gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ITM2B gene.
More info about this panel Portugal.
Hereditary dementias (NGS panel for 28 genes) Panel
Portugal.
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panel Portugal.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel Germany.
Dementia, familial, British type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ITM2B gene.
More info about this panel Germany.
Dementia, familial, Danish type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ITM2B gene.
More info about this panel Germany.
Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ITM2B 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.
Frontotemporal Dementia (FTD) Panel Panel
Germany.
By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2
More info about this panel Germany.
Dementia all Panel Panel
Germany.
By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4
More info about this panel Germany.
Single gene testing ITM2B Panel
Germany.
By CeGaT GmbH
This panel specifically test the ITM2B gene.
More info about this panel Germany.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
NGS panel - dementia Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB
More info about this panel Netherlands.
ITM2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITM2B gene.
More info about this panel United States.
Ataxia Panel Panel
Finland.
By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2
More info about this panel Finland.
Cerebral amyloid angiopathy, Panel
Spain.
By Bioarray
This panel specifically test the ITM2B gene.
More info about this panel Spain.
DEMENTIA & ALZHEIMER: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B
More info about this panel Spain.
Hereditary Cerebral Amyloid Angiopathy Type 2, Sequencing ITM2B Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ITM2B gene.
More info about this panel Spain.
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