Autoimmunity, and Mitral valve prolapse

Diseases related with Autoimmunity and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Autoimmunity and Mitral valve prolapse that can help you solving undiagnosed cases.


Top matches:

Medium match VON WILLEBRAND DISEASE TYPE 1


Type 1 von Willebrand disease (type 1 VWD) is a form of VWD (see this term) characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).

VON WILLEBRAND DISEASE TYPE 1 Is also known as von willebrand disease, type i|vwd, type 1

Related symptoms:

  • Autoimmunity
  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Mitral valve prolapse
  • Epistaxis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about VON WILLEBRAND DISEASE TYPE 1

Low match PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE


Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Low match MITRAL VALVE PROLAPSE 2; MVP2


Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (OMIM ).

MITRAL VALVE PROLAPSE 2; MVP2 Is also known as myxomatous mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|mmvp2

Related symptoms:

  • Congestive heart failure
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about MITRAL VALVE PROLAPSE 2; MVP2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1


X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.

CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked

Related symptoms:

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Low match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Low match CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME


Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME Is also known as fibrosing serositis, familial|hypertrophic synovitis, congenital familial|pac syndrome|camptodactyly-arthropathy-pericarditis syndrome|arthropathy-camptodactyly syndrome|cacp syndrome|jacobs syndrome|pericarditis-arthropathy-camptodactyly syndrome|cap syn

Related symptoms:

  • Pain
  • Flexion contracture
  • Dyspnea
  • Arthritis
  • Camptodactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME

Low match EHLERS-DANLOS SYNDROME TYPE 1


Ehlers-Danlos syndrome, type I belongs to the classical type Ehlers-Danlos syndrome. It results most often from mutations in either the COL5A1 gene or the COL5A2 gene.

EHLERS-DANLOS SYNDROME TYPE 1 Is also known as eds i

Related symptoms:

  • Scoliosis
  • Hypertension
  • Hernia
  • Pectus excavatum
  • Inguinal hernia


SOURCES: MESH ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 1

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

Top 5 symptoms//phenotypes associated to Autoimmunity and Mitral valve prolapse

Symptoms // Phenotype % cases
Mitral regurgitation Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cerebral hemorrhage Tricuspid regurgitation High, narrow palate Aortic regurgitation Scoliosis Pain

Rare Symptoms - Less than 30% cases


Subarachnoid hemorrhage Skin rash Tricuspid valve prolapse Pectus excavatum Gastrointestinal hemorrhage Dyspnea Headache Aortic aneurysm Dilatation Disproportionate tall stature Recurrent urinary tract infections Pes planus Endocarditis Joint laxity Bacterial endocarditis Bruising susceptibility Dilatation of the cerebral artery Exertional dyspnea Abnormal heart valve morphology Thromboembolism Cardiomyopathy High palate Generalized morning stiffness Hernia Inguinal hernia Gastroesophageal reflux Digital flexor tenosynovitis Pectus carinatum Joint hyperflexibility Umbilical hernia Congenital finger flexion contractures Pericardial constriction Synovitis Coxa vara Pleural effusion Cutis marmorata Pericardial effusion Abnormal joint morphology Arthropathy Pericarditis Uveitis Juvenile rheumatoid arthritis Wrist flexion contracture Synovial hypertrophy Hip pain Pleuritis Flexion contracture of toe Iridocyclitis Constrictive pericarditis Serositis Congenital diaphragmatic hernia Coxa magna Flattened metatarsal heads Flattened metacarpal heads Retinal detachment Varicose veins Thin skin Asthenia Tachycardia Small hand Convex nasal ridge Limb undergrowth Abnormality of the cardiovascular system Atrial fibrillation Dental crowding Striae distensae Supraventricular tachycardia Mastoiditis Pulmonic stenosis Quadricuspid aortic valve Reversed usual vertebral column curves Ventricular septal defect Abnormal heart morphology Dilated cardiomyopathy Coarctation of aorta Pulmonary arterial hypertension Patent foramen ovale Mitral stenosis Long face Broad forehead Joint dislocation Femoral hernia Dermal atrophy Hallux valgus Atrophic scars Soft skin Genu recurvatum Aortic dissection Abdominal distention Peritonitis Bladder diverticulum Abnormal oral cavity morphology Short philtrum Intellectual disability Short stature Growth delay Micrognathia Long philtrum Posteriorly rotated ears Upslanted palpebral fissure Thin upper lip vermilion Hypertrophic cardiomyopathy Intellectual disability, moderate Elbow flexion contracture Heart murmur Abnormality of the foot Yellow papule Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Calcification of falx cerebri Peau d'orange Medial calcification of large arteries Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Edema Angina pectoris Abnormality of metabolism/homeostasis Short chordae tendineae of the mitral valve Short chordae tendineae of the tricuspid valve Talipes equinovarus Renal insufficiency Syndactyly Polydactyly Abnormality of the kidney Arteriosclerosis Abnormality of the sternum Arachnodactyly Reduced factor VIII activity Epistaxis Aortic valve stenosis Abnormality of the genitourinary system Systemic lupus erythematosus Menorrhagia Prolonged bleeding time Impaired platelet aggregation Joint hemorrhage Prolonged bleeding after surgery Macular degeneration Gastrointestinal angiodysplasia Prolonged whole-blood clotting time Visual impairment Myopia Kyphosis Visual loss Reduced visual acuity Blue sclerae Stroke Stage 5 chronic kidney disease Camptodactyly Easy fatigability Abnormality of skin pigmentation Coma Ascites Syncope Cardiomegaly Cholestasis Neoplasm of the skin Ischemic stroke Growth hormone excess Jaundice Edema of the lower limbs Pulmonary edema Orthopnea Increased inflammatory response Cardiac myxoma Pulmonic valve myxoma Flexion contracture Arthritis Confusion Behavioral abnormality Hematuria Cholangitis Renal cyst Nephrolithiasis Hepatic fibrosis Chronic kidney disease Polycystic kidney dysplasia Cholelithiasis Portal hypertension Enlarged kidney Congenital hepatic fibrosis Fever Pancreatic cysts Hepatic cysts Chronic pain Colonic diverticula Abdominal aortic aneurysm Cerebral berry aneurysm Seizures Cognitive impairment Endocardial fibroelastosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Abnormal cardiac septum morphology, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more