CAD gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CAD gene

Symptoms // Phenotype % Cases
Anemia Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Microalbuminuria Uncommon - Between 30% and 50% cases
Increased lactate dehydrogenase activity Uncommon - Between 30% and 50% cases
Abnormal lactate dehydrogenase activity Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CAD gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Persistence of hemoglobin F
  • Pure red cell aplasia
  • Unconjugated hyperbilirubinemia
  • Chronic hemolytic anemia
  • Hypochromic anemia
  • Chronic myelogenous leukemia
  • Abnormal hemoglobin
  • Pigment gallstones

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAD gene

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


SICKLE CELL ANEMIA


Alternate names

SICKLE CELL ANEMIA Is also known as sickle cell disease

Description

Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

Most common symptoms of SICKLE CELL ANEMIA

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


More info about SICKLE CELL ANEMIA

SOURCES: OMIM MESH ORPHANET

CAD-CDG


Alternate names

CAD-CDG Is also known as cdg syndrome type iz, cdg-iz, congenital disorder of glycosylation, type iz, formerly, congenital disorder of glycosylation type 1z, carbohydrate deficient glycoprotein syndrome type iz, cdg1z, cdg1z, formerly

Description

CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

Most common symptoms of CAD-CDG

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Encephalopathy


More info about CAD-CDG

SOURCES: OMIM ORPHANET


Potential gene panels for CAD gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

CAD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CAD gene.

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel


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