ATIC gene related symptoms and diseases
All the information presented here about the ATIC gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATIC gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Prominent forehead | Very Common - Between 80% and 100% cases |
Congenital blindness | Very Common - Between 80% and 100% cases |
Clitoral hypertrophy | Very Common - Between 80% and 100% cases |
Intellectual disability, profound | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATIC gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of the skin
- Prominent nasal bridge
- Wide mouth
- Thin upper lip vermilion
- Brachycephaly
- Abnormality of metabolism/homeostasis
- Seizures
- Blindness
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATIC gene
Here you will find a list of rare diseases related to the ATIC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AICA-RIBOSIDURIA
Alternate names
AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency, 5-amino-4-imidazole carboxamide ribosiduria, atic deficiency
Description
AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.
Most common symptoms of AICA-RIBOSIDURIA
- Intellectual disability
- Seizures
- Generalized hypotonia
- Muscular hypotonia
- Low-set ears
More info about AICA-RIBOSIDURIA
Search interest in ATIC
Potential gene panels for ATIC gene
MitoMet®Plus aCGH Analysis Panel
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 panelAllNeuro panel Panel
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 panelSelected Genetic Syndromes with Seizures Panel Panel
By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE
More info about this panelMetabolic Epilepsy Panel Panel
By CeGaT GmbH Metabolic Epilepsy Panel that also includes the following genes: SLC25A15 BTD SUOX GPHN ACY1 L2HGDH GNE ADSL DPYD PNPO
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelNuclear-Mito NGS Panel Panel
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 panelATIC Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATIC gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelPurine and Pyrimidine Metabolism Disorders Panel Panel
By Blueprint Genetics Purine and Pyrimidine Metabolism Disorders Panel that also includes the following genes: TPMT UMOD UMPS XDH GPHN UPB1 NT5C3A MOCOS ADA DHODH
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
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