HTRA1 gene related symptoms and diseases
All the information presented here about the HTRA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HTRA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cognitive impairment | Uncommon - Between 30% and 50% cases |
| Gait disturbance | Uncommon - Between 30% and 50% cases |
| Alopecia | Uncommon - Between 30% and 50% cases |
| Dementia | Uncommon - Between 30% and 50% cases |
| Mental deterioration | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HTRA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Stroke
- Leukoencephalopathy
Rarely - Less than 30% cases
- Diplopia
- Apathy
- Back pain
- Slurred speech
- Spastic gait
- Seizures
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HTRA1 gene
Here you will find a list of rare diseases related to the HTRA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MACULAR DEGENERATION, AGE-RELATED, 7; ARMD7
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2
Description
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 is a disorder of the small arterial vessels of the brain characterized by stroke, transient ischemic attacks (TIA), cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities and sometimes associated with multiple lacunar infarcts and microbleeds. Dilated perivascular spaces with a typical status cribrosum characterized by innumerable dilated Virchow-Robin spaces and resulting in a cribriform change in basal ganglia occur in most patients. CADASIL2 differs from CADASIL1 (OMIM ) by a later age of onset (Verdura et al., 2015).
Most common symptoms of CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2
- Seizures
- Cognitive impairment
- Gait disturbance
- Headache
- Alopecia
More info about CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2; CADASIL2
SOURCES: OMIM
CARASIL
Alternate names
CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease, subcortical vascular encephalopathy, progressive, maeda syndrome, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Description
CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Most common symptoms of CARASIL
- Ataxia
- Nystagmus
- Pain
- Spasticity
- Cognitive impairment
More info about CARASIL
HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE
Alternate names
HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE Is also known as htra1-related autosomal dominant cerebral angiopathy
More info about HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE
SOURCES: ORPHANET
Search interest in HTRA1
Potential gene panels for HTRA1 gene
HTRA1 (CARASIL) Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the HTRA1 gene.
More info about this panel United States.
Migraine and Strokes Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Migraine and Strokes Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 NOTCH3 ATP1A2 POLG HTRA1
More info about this panel United States.
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.
HTRA1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HTRA1 gene.
More info about this panel Spain.
CARASIL syndrome (sequence analysis of HTRA1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HTRA1 gene.
More info about this panel Portugal.
CADASIL and CARASIL Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics CADASIL and CARASIL Sequencing Panel with CNV Detection that also includes the following genes: NOTCH3 HTRA1
More info about this panel United States.
CADASIL2 and CARASIL via HTRA1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HTRA1 gene.
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Cerebral small vessel disease Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cerebral small vessel disease Comprehensive panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1
More info about this panel United States.
CADASIL Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests CADASIL Deletion / Duplication panel that also includes the following genes: NOTCH3 HTRA1
More info about this panel United States.
CADASIL Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests CADASIL Comprehensive panel that also includes the following genes: NOTCH3 HTRA1
More info about this panel United States.
Cerebral small vessel disease Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cerebral small vessel disease Deletion / Duplication panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1
More info about this panel United States.
CADASIL NGS panel Panel
United States.
By Connective Tissue Gene Tests CADASIL NGS panel that also includes the following genes: NOTCH3 HTRA1
More info about this panel United States.
Cerebral small vessel disease NGS panel Panel
United States.
By Connective Tissue Gene Tests Cerebral small vessel disease NGS panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1
More info about this panel United States.
HTRA1 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the HTRA1 gene.
More info about this panel Germany.
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.
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.
Teenager Stroke / Stroke-Like Episodes Panel
Germany.
By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1
More info about this panel Germany.
CARASIL Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HTRA1 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.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Small vessel disease Panel Panel
Germany.
By CeGaT GmbH Small vessel disease Panel that also includes the following genes: TREX1 COL4A1 CTC1 GLA NOTCH3 HTRA1
More info about this panel Germany.
Single gene testing HTRA1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the HTRA1 gene.
More info about this panel Germany.
Leukodystrophy / Leukoencephalopathy Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panel Germany.
Cerebral small vessel disease Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Cerebral small vessel disease that also includes the following genes: TREX1 COL4A1 COL4A2 GLA NOTCH3 HTRA1
More info about this panel Poland.
Leukodystrophy and Leukoencephalopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panel Estonia.
CARASIL Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HTRA1 gene.
More info about this panel Austria.
CARASIL Panel
Slovakia.
By MedGene
This panel specifically test the HTRA1 gene.
More info about this panel Slovakia.
CARASIL syndrome: HTRA1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HTRA1 gene.
More info about this panel Spain.
Leukoencephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
More info about this panel United States.
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.
HTRA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HTRA1 gene.
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Panel Panel
Finland.
By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
CARASIL syndrome Panel
Spain.
By Bioarray
This panel specifically test the HTRA1 gene.
More info about this panel Spain.
CARASIL Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HTRA1 gene.
More info about this panel Spain.
CARASIL Syndrome, Sequencing HTRA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HTRA1 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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