HTRA2 gene related symptoms and diseases

All the information presented here about the HTRA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HTRA2 gene

Symptoms // Phenotype % Cases
Tremor Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases
Neutropenia Rare - less than 30% cases
Bradykinesia Rare - less than 30% cases
Rigidity Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with HTRA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • 3-Methylglutaconic aciduria
  • Increased CSF lactate
  • Weak cry
  • Poor suck
  • Clonus
  • Bradycardia
  • Postnatal microcephaly
  • Abnormality of extrapyramidal motor function

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HTRA2 gene

Here you will find a list of rare diseases related to the HTRA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8


Description

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Most common symptoms of 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

SOURCES: OMIM

PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13


Most common symptoms of PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13

  • Tremor
  • Rigidity
  • Bradykinesia
  • Parkinsonism with favorable response to dopaminergic medication


More info about PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13

SOURCES: MESH OMIM

YOUNG-ONSET PARKINSON DISEASE


Alternate names

YOUNG-ONSET PARKINSON DISEASE Is also known as yopd, early-onset parkinson disease

Description

Young-onset Parkinson disease (YOPD) is a form of Parkinson disease (PD), characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.


More info about YOUNG-ONSET PARKINSON DISEASE

SOURCES: ORPHANET

3-METHYLGLUTACONIC ACIDURIA TYPE 8


Alternate names

3-METHYLGLUTACONIC ACIDURIA TYPE 8 Is also known as mga8


More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 8

SOURCES: ORPHANET


Potential gene panels for HTRA2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Parkinson disease 13 (PARK13, sequence analysis of HTRA2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HTRA2 gene.

More info about this panel

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Parkinson Disease Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

PARK13 Parkinsonism Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HTRA2 gene.

More info about this panel

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

Parkinsons disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35

More info about this panel

Parkinson Syndrome, autosomal dominant Panel Panel

Germany.

By CeGaT GmbH Parkinson Syndrome, autosomal dominant Panel that also includes the following genes: SNCA VPS35 HTRA2 LRRK2 CHCHD2 DNAJC13 EIF4G1 GBA PRKAR1B RAB29

More info about this panel

Parkinson all Panel Panel

Germany.

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Parkinson Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7

More info about this panel

NGS panel - Parkinson Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1

More info about this panel

Parkinson-Alzheimer-Dementia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

HTRA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HTRA2 gene.

More info about this panel

PARKINSON NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6

More info about this panel


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