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  • CADASIL

    8 members

    CADASIL is a rare genetic disorder that is characterized by migraines, headaches, and multiple strokes in adults and young adults, often without cardiovascular risk factors. CADASIL is caused by...

  • Campomelic dysplasia

    members

  • Canavan Disease

    5 members

    Canavan Disease is a rare degenerative brain disorder that causes progressive damage to nerve cells in the brain.

  • Candida Glabrata

    3 members

    Candida Glabrata is a rare strain of yeast infection of the vaginal area.

  • CANOMAD Syndrome

    1 members

    CANOMAD Syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.

  • CANVAS SYNDROME

    1 members

  • Carbamoyl Phosphate Synthetase Deficiency

    members

    Carbamoyl Phosphate Synthetase Deficiency is a rare genetic disorder that causes ammonia to accumulate in the blood.

  • Carcinoid Tumors

    8 members

    Carcinoid tumors are slow-growing cancers that usually start in the lining of the digestive tract or in the lungs and can sometimes produce excessive amounts of hormonelike substances, resulting in...

  • CardioSpondyloCarpoFacial Syndrome

    2 members

    Cardio Spondylo Carpo Facial Syndrome 

    with gene mutation in MAP3K7

    CSCF syndrome

  • Carney Complex

    7 members

    Carney Complex is a hereditary cancer syndrome characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, and endocrine gland tu...

  • Carnitine-Acylcarnitine Translocase Deficiency

    2 members

    Carnitine-Acylcarnitine Translocase Deficiency is a rare genetic disorder that prevents the body from converting long-chain fatty acids into energy.

     

  • Caroli Disease

    members

    Caroli Disease is a rare genetic disorder characterized by dilatation of the bile ducts.

  • Carotid-Cavernous Fistula

    1 members

    Carotid-Cavernous Fistula is an abnormal connection between the arterial and venous systems within the cavernous sinus.

  • Castleman's Disease

    10 members

    Castleman's Disease is a rare disorder characterized by non-cancerous tumors that may develop in the lymph node tissue at a single site or throughout the body.

  • Cat-Eye Syndrome

    1 members

    Cat-eye syndrome is a rare chromosomal disorder caused by the presence of additional extra copies of a certain portion of chromosome 22 (22pter-22q11, the short arm and a small portion of the lo...

  • Cat-Scratch Disease

    3 members

    Cat-Scratch Disease is a bacterial disease caused by the intracellular bacterium Bartonella.

  • Catamenial Pneumothorax

    1 members

    Catamenial pneumothorax is a rare condition characterized by the collapse of a lung occurring in conjunction with menstrual periods.

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    members

    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder characterized by an arrhythmia (abnormal heart rhythm). As the patient encounters ...

  • Cavernous Angioma

    7 members

    Cavernous Angioma is a vascular disorder of the central nervous system.

  • Central Areolar Choroidal Dystrophy

    1 members

    Central areolar choroidal dystrophy (CACD) is a hereditary disorder that affects the macula, an area within the eye specialized in the perception of visual...

  • Central Diabetes Insipidus

    2 members

    Central Diabetes Insipidus results from damage to the hypothalamus or pituitary resulting in the feeling of thirst.

     

  • Cerebrotendineous Xanthomatosis

    members

    Cerebrotendineous Xanthomatosis is a rare genetic disorder associated with the deposition of cholesterol in the brain and other tissues.

  • Cervical Cancer

    7 members

    Cervical Cancer is a malignant cancer of the cervix, uteri or cervical area.

  • Char Syndrome

    members

    Char syndrome is a rare genetic disorder that affects the development of the face, heart and limbs. It is characterized by the presence of three symptoms: ...

  • Charcot-Marie-Tooth Disease

    11 members

    Charcot-Marie-Tooth disease is an inherited neurological disorder.

  • CHARGE Syndrome

    1 members

    CHARGE Syndrome is a rare genetic disorder characterized by: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnor...

  • Chediak-Higashi Syndrome

    2 members

    Chediak-Higashi Syndrome is a rare autosomal recessive disorder caused by a mutation in the lysosomal trafficking regulator gene (LYST).

  • Cherubism

    2 members

    Cherubism is a rare painless condition involving the bones of the face. The solid bone in the lower part of the skull and jaw (maxilla and mandible) is replaced by fibrous tissue that is less dense...

  • Childhood-onset neurodegeneration with brain atrophy (CONDBA)

    2 members

    Childhood-onset degeneration with brain atrophy is a neurodegenerative disorder characterized by a progressive loss of the motor, cognitive and social func...

  • Cholangiocarcinoma

    3 members

    Cholangiocarcinoma is cancer of the bile ducts, which transfer bile from the liver to the small intestines.

  • Chondroectodermal Dysplasia

    1 members

    Chondroectodermal Dysplasia is a rare genetic skeletal disorder.

     

     

  • Chordoma

    2 members

    Chordoma is a rare tumor thought to arise from cellular remnants of the notochord.

  • Choroid Plexus Carcinoma

    1 members

    Choroid Plexus Carcinoma is the malignant form of a choroid plexus tumor which accounts for 10-20 percent of all choroid plexus tumors.

  • Choroideremia

    members

    Choroideremia is a rare inherited eye disorder that causes progressive vision loss due to degeneration of the choroid and retina.

  • Christ-Siemens-Touraine Syndrome

    1 members

    Christ-Siemens-Touraine Syndrome is a rare inherited disorder characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical defor...

  • Chromosome 10q Deletion Syndrome

    4 members

  • Chromosome 14 Deletion

    26 members

    Chromosome 14 Deletion is a rare chromosomal disorder.

  • Chromosome 15q11.2 Deletion

    9 members

    Chromosome 15q11.2 Deletion is a rare genetic disorder.

  • Chromosome 18q Deletion Syndrome

    3 members

  • Chromosome 1p13.3 Microdeletion

    8 members

  • Chromosome 1p36 Deletion Syndrome

    3 members

    Chromosome 1p36 Deletion Syndrome is a rare genetic disorder caused by the genetic deletion on the outermost band on the short arm of chromosome 1.

  • Chromosome 1q Duplication

    2 members

    Chromosome 1q Duplication is a rare chromosomal disorder resulting in small stature, growth defiency, global delays, behavior issues, chronic pneumonia, chronic ear infections and hearing loss.

  • Chromosome 1q21.1 Duplication

    31 members

    Chromosome 1q21.1 Duplication is a rare genetic abnormality that involves microduplication in the q21.1 area of chromosome 1. It has varying clinical presentations with children having anything fro...

  • Chromosome 1q42.3 Deletion

    1 members

  • Chromosome 22 Ring

    5 members

    Chromosome 22 Ring is a rare disorder characterized by abnormalities of chromosome 22.

  • Chromosome 3 Duplication

    2 members

  • Chromosome 3p26.3 Deletion

    12 members

  • Chromosome 4q Deletion Syndrome

    199 members

    Chromosome 4q Deletion Syndrome is a rare chromosomal disorder in which there is deletion of a portion of the 4th chromosome.

  • Chromosome 5p Duplication Syndrome

    19 members

    Chromosome 5p duplication syndrome is a disorder characterized by the duplication of all or part of chromosome 5.

  • Chromosome 5q Deletion Syndrome

    12 members

    Chromosome 5q deletion syndrome is a rare disorder caused by loss of part of the long arm of chromosome 5.

     

     

  • Chromosome 6q Deletion Syndrome

    10 members

    Chromosome 6q Deletion Syndrome is a rare chromosomal disorder resulting from the deletion of a part of the long arm (q) of chromosome 6.

  • Chromosome 9q Duplication

    7 members

    Chromosome 9q Duplication is a rare genetic disorder resulting in variable motor skills, growth and mental retardation issues.

     

  • Chromosome Y deletion

    1 members

    A family of genetic disorders caused by missing genes in the Y chromosome.

  • Chronic Autoimmune Hepatitis

    4 members

    Chronic Autoimmune Hepatitis is a rare chronic inflammatory liver disease.

  • Chronic granulomatous disease

    7 members

    Chronic granulomatous disease is a rare group of hereditary diseases characterized by the inability to resist infectious diseases.

  • Chronic Inflammatory Demyelinating Polyneuropathy

    18 members

    Chronic Inflammatory Demyelinating Polyneuropathy is a rare immune-mediated inflammatory disorder of the peripheral nervous system.

  • Chronic Lyme Disease

    7 members

    Chronic Lyme Disease occurs in patients who have completed a course of antibiotic treatment for Lyme Disease, yet continue to have symptoms such as severe fatigue, sleep disturbance, and cognitive ...

  • Chronic Lymphocytic Leukemia

    9 members

    Chronic Lymphocytic Leukemia (CLL) is a cancer of the lymphocytes, which are a type of white blood cells. It is a blood disorder in which there is an increased number of white blood cells in lympho...

  • Chronic Myelogenous Leukemia

    4 members

    Chronic Myelogenous Leukemia is a form of leukemia characterized by the unregulated growth of myeloid cells in the bone marrow.

  • Chronic Myelomonocytic Leukemia

    2 members

    Chronic Myelomonocytic Leukemia is a form of leukemia characterized by an elevated level of circulating monocytes.

  • Churg-Strauss Syndrome

    6 members

    Churg-Strauss Syndrome is a rare medium and small vessel autoimmune vasculitis, leading to necrosis.

  • Citrullinemia

    4 members

    Citrullinemia is a rare disorder characterized by the accumulation of ammonia and other toxic substances in the blood.

  • Clostridium Difficile

    3 members

    Clostridium Difficile is a bacteria causing severe infection of the colon.

  • Clouston Syndrome

    3 members

    Clouston Syndrome is a rare genetic disorder characterized by dystrophy of nails, alopecia,and palmoplantar hyperkeratosis.

  • CNKSR2

    1 members

    CNKSR2 causes seizures and intellectual, attention, and language deficits.  The disease is characterized by intellectual disability, attention problems, and a...

  • Coats Disease

    9 members

    Coats Disease is a rare eye disorder characterized by weak blood vessels behind the retina leading to full or partial blindness.

  • Cockayne Syndrome

    1 members

    Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, photosensitivity, and premature aging.

  • Coeliac Disease

    10 members

    Coeliac Disease is an autoimmune disorder of the small intestine that is caused by a reaction to wheat proteins.

  • Coffin-Lowry Syndrome

    2 members

    Coffin-Lowry Syndrome is a rare genetic disorder caused by mutations in the RPS6KA3 gene and characterized by head, facial and skeletal abnormalities and mental retardation.

  • Cogan Syndrome

    6 members

    Cogan Syndrome is a rare disorder characterized by recurrent inflammation of the eye and sometimes fever, fatigue, and weight loss, episodes of dizziness, and hearing loss.

  • Cohen Syndrome

    4 members

    Cohen Syndrome is believed to be a gene mutation at locus 8q22 gene COH1 and is characterized by obesity, mental retardation and craniofacial dysmorphism.

  • Cold Agglutinin Disease

    13 members

    Cold Agglutinin Disease is an autoimmune disorder yeilding the high presence of circulating antibodies directed against red blood cells.

  • Collagenous Colitis

    7 members

    Collagenous Colitis is a rare inflammatory colonic disease.

  • Combined Malonic and Methylmalonic Aciduria

    2 members

    Combined Malonic and Methylmalonic Aciduria is a rare condition characterized by increased acids in

     

    the blood and urine formed from the breakdown of protein.

  • Common Variable Immunodeficiency

    236 members

    Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is character...

  • Complex Regional Pain Syndrome

    21 members

    Complex Regional Pain Syndrome is a chronic progressive disease characterized by severe pain, swelling and changes in the skin. CRPS results from dysfunction in the nervous system.

  • Cone-Rod Dystrophy

    6 members

    Cone-Rod Dystrophy is an inherited disorder characterized by the loss of cone cells, which are responsible for both central and color vision.

  • Congenital Adrenal Hyperplasia

    17 members

    Congenital Adrenal Hyperplasia is a genetic defect of the adrenal glands.

  • Congenital Amegakaryocytic Thrombocytopenia

    7 members

    Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.

  • Congenital Anosmia

    6 members

    Congenital Anosmia is the absence of the ability to smell.

  • Congenital Bilateral Perisylvian Syndrome

    4 members

    Congenital Bilateral Perisylvian Syndrome is a rare neurological disorder characterized by partial paralysis of facial muscles and/or epilepsy.

     

  • Congenital Cataract

    6 members

    Congenital cataracts are the opacification of the ocular lens starting at birth.

  • Congenital Chloride Diarrhea

    3 members

    Congenital Chloride Diarrhea is a rare genetic caused by a mutation on gene SLC26A3. It is a life long diarhhea. Patients need salt substitute NaCl/KCl and gastroenteritis may be serious.

  • Congenital Disorder of Glycosylation

    6 members

    Congenital Disorder of Glycosylation is a group of very rare inherited metabolic disorders.

  • Congenital Dyserythropoietic Anemia

    5 members

    Congenital Dyserythopoietic Anemia is a rare genetic blood disorder.

  • Congenital Factor XIII Deficiency

    2 members

  • Congenital Generalized Lipodystrophy

    1 members

    Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is a rare hereditary disorder that is characterized by a near total lack of bod...

  • Congenital Hyperinsulinism

    2 members

    Congenital Hyperinsulinism is a group of disorders in which excessive insulin secretion causes hypoglycemia.

  • Congenital Hypothyroidism

    11 members

    Congenital Hypothyroidism is a rare thyroid hormone deficiency disorder.

  • Congenital lobar emphysema

    1 members

  • Congenital Muscular Dystrophy

    4 members

    Congenital Muscular Dystrophy is a rare form of Muscular Dystrophy.

  • Congenital Myasthenic Syndromes

    6 members

    Congenital Myasthenic Syndromes aregenetic muscular disorders caused by flaws at the neuromuscular junctions.

  • Congenital Myopathy

    6 members

    Congenital Myopathy is a genetic muscular disorder.

  • Congenital non-goitrous hypothyroidism, type 6

    1 members

  • Congenital rubella syndrome

    members

  • Congenital Sucrase-Isomaltase Deficiency

    17 members

    Congenital Sucrase-Isomaltase Deficiency is a rare disorder in which sucrase is not produced in the small intestine.

  • Cornelia de Lange syndrome

    6 members

  • Coronary Artery Dissection

    1 members

    Coronary Artery Dissection is a rare disorder in which the coronary artery develops a tear.

  • Corpus Callosum Agenesis Neuronopathy

    6 members

    Corpus Callosum Agenesis Neuronopathy is a rare disorder characterized by a delay in developmental milestones.

  • Corticobasal Degeneration

    15 members

    Corticobasal Degeneration is a rare neurological disease characterized by atrophy of multiple areas of the brain, including the cerebral cortex and basal ganglia.

  • Costrochrondritis

    11 members

    Costochondritis is an inflammation of the cartilage that joins the ribs to the chest bone.

  • Cowden Syndrome

    12 members

    Cowden Syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

  • Craniopharyngioma

    2 members

    Craniopharyngioma is a type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in men and women in their 50s and 60s.

  • Creutzfeldt-Jakob Disease

    3 members

    Creutzfeldt-Jakob Disease is a rare, degenerative brain disorder.

  • Cri du Chat Syndrome

    6 members

    Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.

  • Crigler-Najjar Syndrome

    3 members

    Crigler-Najjar Syndrome is a rare disorder affecting the metabolism of bilirubin.

  • Crohn's Disease

    27 members

    Crohn's Disease is a chronic inflammatory bowel disease.

  • Crouzon Syndrome

    1 members

    Crouzon Syndrome is a genetic disorder which affects the first branchial arch.

  • Cryptogenic Organizing Pneumonia

    7 members

    Cryptogenic Organizing Pneumonia is a rare disorder characterized by inflammation of the bronchioles and surrounding lung tissue.

  • Currarino Syndrome

    2 members

    Currarino Syndrome is a rare genetic disorder characterized by a malformed sacrum, a mass in the presacral space in front of the sacrum, and malformations of the anus or rectum.

  • Cushing's Syndrome

    20 members

    Cushing’s syndrome is a hormonal disorder. It occurs from extended exposure of the body to high levels of cortisol. Most commonly, this is caused by oral corticosteroid medicine. Cushing’s syndrome...

  • Cutaneous Mastocytosis

    6 members

    Cutaneous Mastocytosis is a rare disorder caused by the presence of too many mast cells in the skin.

  • Cutis Verticis Gyrata - Mental Deficit

    1 members

    Patients present with ridges and furrows on top (usually) of the head. Many different observations and related conditions. Only a few include intellectual deficit. For many subjects there is no app...

  • Cyclic Neutropenia

    17 members

    Cyclic Neutropenia is a rare form of neutropenia.

  • Cyclic Vomiting Syndrome

    8 members

    Cyclic Vomiting Syndrome is a rare condition characterized by recurring attacks of intense nausea and vomiting.

  • Cylindromatosis

    5 members

    Cylindromatosis is a disease of autosomal dominant inheritance pattern characterized by the formation of benign tumors, predominantly in the scalp.

  • Cystathioninuria

    1 members

    Cystathioninuria is a rare disorder characterized by excess cystathionine in the urine.

  • Cystic Fibrosis

    8 members

    Cystic Fibrosis is a rare hereditary disease characterized by lung infections caused by the body's production of thick mucus.

  • Cystic Hygroma

    2 members

    A Cystic Hygroma is a rare congenital cyst found near or around major organs usually in the head, neck & chest.

  • Cystinosis

    2 members

    Cystinosis is a rare lysosomal storage disorder condition in which the body accumulates cystine within cells.

  • Cystinuria

    4 members

    Cystinuria is a rare genetic disorder characterized by the formation of cystine stones in the kidneys, ureter, and bladder.