Hereditary Diseases 2017-09-08T17:44:55+00:00

HEREDITARY DISEASES

Hereditary disease can impact all persons of all ages, both born and unborn. Almost all organ systems have known inherited causes of diseases that can be identified by genetic testing.  As many as 8% of everyday people suffer from an inherited disease. In some situations, determining the genetic cause of disease can provide clinically actionable guidance for treatment or prevention. CGI provides accurate science and services necessary to interpret disease causing mutations correctly.

HEREDITARY DISEASE

Hereditary Disease can impact all persons of all ages, both born and unborn. Almost all organ systems have known inherited causes of diseases which can be identified by genetic testing. In some situations, determining the genetic cause of disease can provide clinically actionable guidance for treatment or prevention. CGI provides accurate science and services necessary to interpret disease causing mutations correctly.

Newborn Disease – Childhood Disease – Adulthood Disease

Cardiological disorders are a major health problem worldwide. These ailments affect the heart and peripheral circulation systems. Although many cardiological problems are caused by personal, environmental and lifestyle choices, some are a result of inherited genetic variants which predispose certain individuals to these diseases. The following are known to have a genetic cause:
  • Arrhythmia and Cardiomyopathy
  • Skeletal Muscle Disease
  • Aortopathy and Connective Tissue Disorders
  • Familial Hypercholesterolemia
  • Pulmonary Hypertension
  • Congenital Heart Disease

Newborn Disease – Childhood Disease – Adulthood Disease

The skin is the largest organ in the body, serving as a protective barrier against injury. Some skin disorders are attributed to one’s lifestyle and environment, but some are inherited. The following disorders are known to have a genetic cause:

  • Dermatology Cancer Syndrome
    • Melanoma
    • Melanoma-Pancreatic Cancer Syndrome
    • Basal Cell Nevus Syndrome
    • Birt-Hogg-Dube Syndrome
    • Lynch Syndrome (hereditary nonpolyposis colorectal cancer (HNPCC))
    • Neurofibromatosis Type 2
    • Schwannomatosis
    • Tuberous Sclerosis Complex
  • Skin Disorders
    • Cardio-Facio-Cutaneous Syndrome
    • Ectodermal Dysplasia with or without Tooth Agenesis
    • Legius Syndrome
    • Noonan Syndrome with Multiple Lentigines
    • PTEN-Related Disorders
    • TP63-Related Disorders
    • van der Woude Syndrome

Prenatal Disease – Newborn Disease – Childhood Disease – Adulthood Disease

Blood is a network of various liquids, specialized cells, and organs that transport oxygen, nutrients, hormone signals, healing components, and wastes to and from cells in the body. When something is wrong with your blood, it can affect your overall health and well-being. Blood disorders include problems with red blood cells, platelets, blood vessels, bone marrow, lymph nodes, spleen, and the proteins involved in clotting. Although many of these diseases are caused by or triggered as a result of environment or lifestyle, some are inherited and attributed fully or partially to genetic variants.

The following are known to have a genetic cause:

  • Bone Marrow Failure Syndromes
    • Congenital Amegakaryocytic Thrombocytopenia
    • Diamond-Blackfan Anemia
    • Dyskeratosis Congenita
    • ELANE-Related Neutropenia
    • Fanconi Anemia
    • GATA1-Related X-Linked Cytopenia
    • WAS-Related Disorder
  • Hereditary Hemochromatosis
  • Hereditary Thrombophilia
    • Antithrombin III Deficiency
    • Protein C Deficiency
    • Protein S Deficiency
  • Hemophilia
    • Von Willebrand Disease

Childhood Disease – Adulthood Disease

While not all cancers have a known heritable genetic cause, some do. A percentage of each of the following cancers are known to have an inherited genetic cause:

  • Breast 
  • Cervical 
  • Gestational trophoblastic disease (GTD)
  • Primary peritoneal
  • Ovarian
  • Uterine/Endometrial
  • Vaginal
  • Vulvar
  • Colorectal
  • Pancreatic 
  • Sarcoma
  • Melanoma
  • Gastric 
  • Hereditary Paraganglioma-Pheochromocytoma
  • Hyperparathyroidism
  • Myelodysplastic Syndrome
  • Nervous System/Brain 
  • Prostate Cancer
  • Renal/ Urinary Tract 
  • Thyroid 
  • Melanoma-Pancreatic Cancer Syndrome
  • Ataxia-Telangiectasia
  • BAP1 Hereditary Cancer Syndrome
  • Basal Cell Nevus Syndrome
  • Birt-Hogg-Dube Syndrome
  • Bloom Syndrome
  • Carney Complex
  • CASR-Related Conditions
  • CDC73-Related Conditions
  • Chronic Pancreatitis
  • Constitutional Mismatch Repair-Deficiency
  • Costello Syndrome
  • DICER1 Syndrome
  • Familial Acute Myeloid Leukemia with mutated CEBPA
  • Familial Adenomatous Polyposis
  • Familial Gastrointestinal Stromal Tumor Syndrome
  • Familial Neuroblastoma
  • Familial Platelet Disorder with Propensity to Myeloid Malignancy
  • Fanconi Anemia
  • GATA2 Deficiency
  • Hereditary Breast and Ovarian Cancer Syndrome
  • Hereditary Diffuse Gastric Cancer Syndrome
  • Hereditary Leiomyomatosis and Renal Cell Cancer
  • Hereditary Papillary Renal Cell Carcinoma
  • Juvenile Polyposis Syndrome
  • Li-Fraumeni Syndrome
  • Multiple Endocrine Neoplasia Type 1 (MEN1)
  • Multiple Endocrine Neoplasia Type 2 (RET)
  • MUTYH-Associated Polyposis Syndrome
  • Neurofibromatosis Type 1 (NF1)
  • Neurofibromatosis Type 2 (NF2)
  • Nijmegen Breakage Syndrome
  • Oligodontia-Colorectal Cancer Syndrome
  • PTEN-related disorders
  • Perlman Syndrome
  • Peutz-Jeghers Syndrome
  • RECQL4-related disorders
  • Retinoblastoma
  • Rhabdoid Tumor Predisposition Syndrome
  • Schwannomatosis
  • Simpson-Golabi-Behmel Syndrome
  • Small Cell Carcinoma of the Ovary Hypercalcemic Type
  • Tuberous Sclerosis Complex
  • Hippel-Lindau Syndrome
  • Werner Syndrome
  • Wilms Tumor
  • WT1-Related disorders

Newborn Disease – Childhood Disease – Adulthood Disease

The immune system is a large network of cells, tissues, and organs all coordinated to find and eliminate foreign bodies and organisms. Disorders of the immune system involve an overactive or underactive immune response to self or foreign bodies. Sometimes lifestyle and environment may cause these diseases, but for some, an inherited genetic variant causes or contributes to the disease.

The following are known to have a genetic cause:

  • Primary Immunodeficiency
  • Antibody Deficiencies
    • Agammaglobulinemia
    • Common Variable Immunodeficiency
    • Hyper IgE Syndrome
    • Hyper IgM Syndrome
  • Autoinflammatory Syndromes
    • Familial Cold Autoinflammatory Syndrome
    • Familial Mediterranean Fever
    • Monogenic Inflammatory Bowel Disease\
    • Periodic Fever Syndromes
  • Combined T/B Cell Deficiencies
    • Comprehensive Severe Combined Immunodeficiency (SCID)
    • Combined Immunodeficiency (CID)
    • T-B-NK- Severe Combined Immunodeficiency (SCID)
    • T-B-NK+ Severe Combined Immunodeficiency (SCID)
    • T-B+NK- Severe Combined Immunodeficiency (SCID)
    • T-B+NK+ Severe Combined Immunodeficiency (SCID)
    • Syndromic Combined Immunodeficiency (CID)
  • Disorder of Intrinsic and Innate Immunity
    • Chronic Mucocutaneous Candidiasis
    • Epidermodysplasia Verruciformis
    • Herpes Simplex Encephalitis
    • Mendelian Susceptibility to Mycobacterial Disease
  • Immune Dysregulation
    • Monogenic Autoimmunity
    • Autoimmune Lymphoproliferative Disorders (ALPS)
    • Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders
  • Phagocytic Defects
  • Well-Defined Syndromes
    • Dyskeratosis Congenita
    • Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome

Prenatal Disease – Newborn Disease – Childhood Disease – Adulthood Disease

Metabolism is the process your body uses to get or make energy from food, water, and air. Metabolic disorders can be present at birth, with some diseases identified in the developed world by newborn screening. Some metabolic disorders manifest much later. Many disorders are developed due to lifestyle and environment choices while some are inherited through genetics.

The following are known to have a genetic cause:

  • Metabolic Disorders
    • Lysosomal Storage Disorders
    • X-linked Adrenoleukodystrophy
  • Analyte
    • Low CO
    • Elevated CO/ (C16+C18)
    • Elevated C3
    • Elevated C3-DC
    • Elevated C4
    • Elevated C4-OH
    • Elevated C5
    • Elevated C5-OH
    • Elevated C14 and C14:1
    • Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH
    • Elevated C16, C16:1, C18, and C18:1
    • Elevated Arginine
    • Elevated Citrulline
    • Dihydrolipoamide Dehydrogenase Deficiency
    • Low Citrulline
    • Elevated Leucine
    • Elevated Methionine
    • Elevated Phenylalanine
    • Elevated Proline
    • Elevated Succinylacetone
    • Elevated Tyrosine
  • Aminoacidopathies
    • Alkaptonuria
    • Combined Methylmalonic Acidemia and Homocystinuria
    • Cystinuria
    • Disorders of Serine Biosynthesis
    • Glycine Encephalopathy
    • Homocystinuria
    • Hyperphenylalaninemia
    • Maple Syrup Urine Disease
    • Tyrosinemia
  • Carbohydrate Disorders
    • Galactosemia
    • Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency
    • Glucose Transporter Type 1 (GUT1) Deficiency
    • Comprehensive Glycogen Storage Disease
    • Liver Glycogen Storage Disease
    • Muscle Glycogen Storage Disease
    • Hereditary Fructose Intolerance
    • Rare Carbohydrate Disorders
  • Cerebrotendinous Xanthomatosis
  • Congenital Disorders of Glycosylation
  • Cerebral Creatine Deficiency
  • Cystic Fibrosis
  • Fatty Acid Oxidation Defects
    • Ketogenesis Disorders
    • Ketolysis Disorders
    • Medium Chain Acyl-CoA Dehydrogenase Deficiency
    • Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency
    • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Lysosomal Storage Disorders
    • Comprehensive Lysosomal Storage Disorders
    • Cystinosis
    • Chitotriosidase Deficiency
    • Farber Lipogranulomatosis
    • Fabry Disease
    • GM2 Gangliosidosis
    • Krabbe Disease
    • Lysosomal Acid Lipase Deficiency
    • Metachromatic Leukodystrophy
    • Mucolipidosis
    • Comprehensive Mucopolysaccharidoses (MPS)
    • Mucopolysaccharidoses Type I (MPS I)
    • Mucopolysaccharidoses Type II (MPS II)
    • Mucopolysaccharidosis Type III (MPS III)
    • Mucopolysaccharidosis Type IV (MPS IV)
    • Multiple Sulfatase Deficiency
    • Comprehensive Neuronal Ceroid Lipofuscinosis
    • Niemann-Pick Disease Types A
    • Niemann-Pick Disease Types B
    • Niemann-Pick Disease Types C
    • Oligosaccharidoses
    • Pompe Disease
    • Prosaposin Deficiency
    • Sandhoff Disease
    • Tay-Sachs Disease
  • Metal Transport Disorders
    • ATP7A-Related Disorders
    • Copper Metabolism Disorders
    • Wilson Disease
  • Neurotransmitter Disorders
    • Hereditary Hyperekplexia
  • Organic Acidemias
    • 2-Hydroxyglutaric Aciduria
    • 3-Methylcrotonyl-CoA Carboxylase
    • 3-Methylglutaconic Aciduria
    • Barth Syndrome
    • Biotinidase Deficiency
    • Canavan Disease
    • Glutaric Acidemia Type I
    • Combined Methylmalonic Acidemia
    • Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency
    • Multiple Carboxylase Deficiency
    • Propionic Acidemia
  • Peroxisomal Disorders
    • Adult Refsum Disease
    • Rhizomelic Chondrodysplasia Punctata Spectrum
    • X-linked Adrenoleukodystrophy
    • Zellweger Spectrum Disorder
  • Purine Metabolism Disorders
    • Purine Metabolism Disorders
    • Lesch-Nyhan Syndrome
  • Pyruvate Metabolism and Tricarboxylic Acid Cycle Defects
    • 2-Ketoglutarate Dehydrogenase Deficiency
    • Citrate Transporter Deficiency
    • Dihydrolipoamide Dehydrogenase Deficiency
    • Fumarase Deficiency
    • Pyruvate Carboxylase Deficiency
    • Pyruvate Dehydrogenase Deficiency
  • Treatable Disorders
    • Treatable Neurometabolic Disorders
    • Biotine-Thiamine-Responsive Basal Ganglia Disease (BTBGD)
  • Urea Cycle Disorders
    • Urea Cycle Disorders
    • Arginase Deficiency
    • Ornithine Transcarbamylase (OTC) Deficiency

Prenatal Disease – Newborn Disease – Childhood Disease – Adulthood Disease

The brain and nervous system form an intricate network of electrical signals that are responsible for coordinating muscles, the senses, memories, thought and emotion. This network allows for rapid and coordinated responses to changes in the environment. When the functions of the brain or the nervous system are disrupted, disabling neurological disorders may result. Although environment and lifestyle can influence many brain and nervous system disorders, several of these diseases have a genetic component.

The following are known to be caused by genetic variants:

  • Movement Disorders
    • Dystonia Comprehensive
    • Hereditary Parkinson’s Disease and Parkinsonism
  • Neurodegenerative Disorders
    • Combined Hereditary Dementia
    • Amyotrophic Lateral Sclerosis
    • Frontotemporal Dementia
    • Hereditary Alzheimer’s Disease
    • Hereditary Prion Disease
  • Neuropathies and Related Disorders
    • Charcot-Marie-Tooth Disease
    • Hereditary Sensory and Autonomic Neuropathy
    • Familial Dysautonomia
    • Hereditary Motor Neuropathy
    • Spinal Muscular Atrophy
    • Small Fiber Neuropathy
    • Riboflavin Transporter Deficiency Neuronopathy
    • Hereditary Spastic Paraplegia
  • Cardiomyopathy and Skeletal Muscle Disease
  • Epilepsy Seizures and Developmental Brain Abnormalities
    • Epilepsy
    • Alternating Hemiplegia of Childhood
    • Baraitser-Winter Cerebrofrontofacial Syndrome
    • Cerebral Cavernous Malformations
    • CHARGE syndrome
    • Early Infantile Epileptic Encephalopathy
    • Holoprosencephaly
    • Neurodegeneration with Brain Iron Accumulation
    • Rett and Angelman Syndromes and Related Disorders
    • Tuberous Sclerosis
    • Neurocognitive impairment including autism

Childhood Disease – Adulthood Disease

Vision occurs through a network of pathways which interact to receive, translate, integrate, and arrange light into a picture. Eye diseases can be caused by lifestyle, environment, or inherited genetic variants. Inherited genetic factors play a role in many kinds of eye diseases, including those disorders that are the leading cause of blindness among infants, children, and adults.

The following are known to be caused by genetic variants:

  • Aniridia
  • Axenfeld-Rieger
  • Bardet-Biedl Syndrome
  • CHARGE Syndrome
  • Choroideremia
  • Congenital Cataracts
  • Duane-Radial Ray Syndrome
  • Early-Onset Glaucoma
  • Leber Congenital Amaurosis
  • Microphthalmia/ Anophthalmia Disorders
  • Oculo-Facio-Cardio-Dental Syndrome
  • Retinoblastoma
  • Senior-Loken Syndrome