GATAD1 gene related symptoms and diseases
All the information presented here about the GATAD1 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 GATAD1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Common - Between 50% and 80% cases |
| Cardiomyopathy | Common - Between 50% and 80% cases |
| Renal cyst | Common - Between 50% and 80% cases |
| Congestive heart failure | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GATAD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sensorineural hearing impairment
Not very common - Between 30% and 50% cases
- Severe muscular hypotonia
- Hyperoxaluria
- Large fontanelles
- Decreased liver function
- Depressed nasal bridge
- Feeding difficulties
- Anteverted nares
And 187 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GATAD1 gene
Here you will find a list of rare diseases related to the GATAD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
REFSUM DISEASE, CLASSIC
Alternate names
REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis, hmsn iv, phytanic acid oxidase deficiency, hereditary motor and sensory neuropathy iv, hmsn4, refsum disease, adult, 1
Description
Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.
Most common symptoms of REFSUM DISEASE, CLASSIC
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
- Nystagmus
More info about REFSUM DISEASE, CLASSIC
SOURCES: OMIM
CARDIOMYOPATHY, DILATED, 2B; CMD2B
Most common symptoms of CARDIOMYOPATHY, DILATED, 2B; CMD2B
- Neoplasm
- Cardiomyopathy
- Congestive heart failure
- Dilated cardiomyopathy
- Cardiomegaly
More info about CARDIOMYOPATHY, DILATED, 2B; CMD2B
SOURCES: OMIM
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
Alternate names
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc
Description
Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.
Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
- Sensorineural hearing impairment
- Feeding difficulties
- Fatigue
- Ventriculomegaly
- Cardiomyopathy
More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY
ZELLWEGER SYNDROME
Alternate names
ZELLWEGER SYNDROME Is also known as zs, cerebrohepatorenal syndrome, zws, chr
Description
Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Most common symptoms of ZELLWEGER SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about ZELLWEGER SYNDROME
PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
Description
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.
Most common symptoms of PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
- Seizures
- Global developmental delay
- Generalized hypotonia
- Failure to thrive
- Depressed nasal bridge
More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A
SOURCES: OMIM
Search interest in GATAD1
Potential gene panels for GATAD1 gene
Comprehensive Cardiac Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1
More info about this panel United States.
Dilated & Arrhythmogenic Cardiomyopathies Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Dilated & Arrhythmogenic Cardiomyopathies Panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Cardiomyopathy Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SCO2 SGCD SKI BRAF SNTA1 SOS1
More info about this panel United States.
Dilated Cardiomyopathy Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dilated Cardiomyopathy Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel United States.
DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
Pan Cardiomyopathy Panel (62 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Pan Cardiomyopathy Panel (62 Genes) that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TRDN
More info about this panel United States.
Comprehensive Cardiomyopathy Panel Panel
United States.
By GeneDx Comprehensive Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panel United States.
CardioNext with TTN Panel
United States.
By Ambry Genetics CardioNext with TTN that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TAZ TBX1 TBX20 TBX5
More info about this panel United States.
CMNext with TTN Panel
United States.
By Ambry Genetics CMNext with TTN that also includes the following genes: RYR2 SCN5A TAZ TBX20 TCAP TGFB3 TMPO TNNC1 TNNI3 TNNT2
More info about this panel United States.
CustomNext: Cardio Panel
United States.
By Ambry Genetics CustomNext: Cardio that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SKI SNTA1 TAZ TBX1 TBX20
More info about this panel United States.
Cardiomyopathy, dilated 2B (sequence analysis of GATAD1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GATAD1 gene.
More info about this panel Portugal.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dilated Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel United States.
Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pan Cardiomyopathy Sequencing Panel with CNV Detection that also includes the following genes: RYR2 SCN5A SCO2 SGCD SGCG BRAF SOS1 TAZ TCAP TGFB3
More info about this panel United States.
Cardiomyopathy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panel Netherlands.
Cardiomyopathy, dilated, 2B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GATAD1 gene.
More info about this panel Germany.
Dilated Cardiomyopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dilated Cardiomyopathy that also includes the following genes: SCN5A SGCD TAZ TBX20 TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1
More info about this panel Estonia.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
Dilated Cardiomyopathy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Sequencing Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel United States.
Comprehensive Cardiovascular: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI SLC22A5 BRAF
More info about this panel United States.
Cardiomyopathy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TNNC1 TNNI3
More info about this panel United States.
Cardiomyopathy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Cardiomyopathy: Sequencing Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD SLC22A5 BRAF SOS1 TAZ TCAP TNNC1
More info about this panel United States.
Comprehensive Cardiovascular: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Comprehensive Cardiovascular: Deletion/Duplication Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A BMPR2 SGCD SKI BRAF SNTA1
More info about this panel United States.
Dilated Cardiomyopathy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dilated Cardiomyopathy: Deletion/Duplication Panel that also includes the following genes: SCN5A SGCD TAZ TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN TTR
More info about this panel United States.
Pan-Cardio NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Pan-Cardio NGS Panel that also includes the following genes: MRPL3 RYR2 SCN1B SCN4B SCN5A SDHA SGCD SNTA1 TAZ TBX1
More info about this panel United States.
Hypertrophic Cardiomyopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hypertrophic Cardiomyopathy NGS Panel that also includes the following genes: RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1 TNNI3
More info about this panel United States.
GATAD1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GATAD1 gene.
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
CardioGene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis CardioGene Set that also includes the following genes: RIT1 RYR2 SCN1B SCN4B SCN5A SGCD BRAF SNTA1 SOS1 TAZ
More info about this panel United States.
Cardiomyopathy Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Cardiomyopathy Gene Set that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
Dilated Cardiomyopathy Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Dilated Cardiomyopathy Gene Set that also includes the following genes: SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel United States.
Cardiomyopathy Exome Panel Panel
United States.
By Northwest Clinical Genomics Laboratory University of Washington Cardiomyopathy Exome Panel that also includes the following genes: RIT1 RYR2 SCN5A SGCD BRAF SOS1 TAZ TCAP TMPO TNNC1
More info about this panel United States.
FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY/HYPERTROPHIC/NONCOMPACTION: NGS PANEL that also includes the following genes: MRPL3 SCN5A SGCD TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2
More info about this panel Spain.
FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL FAMILIAL DILATED CARDIOMYOPATHY, NGS PANEL that also includes the following genes: SCN5A SGCD TAZ TBX20 TBX5 TCAP TMPO TNNC1 TNNI3 TPM1
More info about this panel Spain.
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