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.

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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

SOURCES: OMIM MESH ORPHANET


Potential gene panels for ATIC 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

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

Selected Genetic Syndromes with Seizures Panel Panel

Germany.

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 panel

Metabolic Epilepsy Panel Panel

Germany.

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 panel

Epilepsy NGS Panel Panel

United States.

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 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

ATIC Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATIC gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

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 panel

Comprehensive Metabolism Panel Panel

Finland.

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 panel

Purine and Pyrimidine Metabolism Disorders Panel Panel

Finland.

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 panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

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 panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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