Autoimmunity, and Aortic valve stenosis

Diseases related with Autoimmunity and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Autoimmunity and Aortic valve stenosis 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 AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match AORTIC VALVE DISEASE 2; AOVD2


AORTIC VALVE DISEASE 2; AOVD2 Is also known as bicuspid aortic valve|aortic valve stenosis

Related symptoms:

  • Hypertension
  • Coarctation of aorta
  • Aortic valve stenosis
  • Bicuspid aortic valve
  • Heart murmur


SOURCES: OMIM MENDELIAN

More info about AORTIC VALVE DISEASE 2; AOVD2

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4


Related symptoms:

  • Ventricular septal defect
  • Tetralogy of Fallot
  • Coarctation of aorta
  • Aortic valve stenosis
  • Hypoplastic left heart


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

Top 5 symptoms//phenotypes associated to Autoimmunity and Aortic valve stenosis

Symptoms // Phenotype % cases
Mitral regurgitation Uncommon - Between 30% and 50% cases
Inflammatory abnormality of the skin Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Ventricular hypertrophy Uncommon - Between 30% and 50% cases
Coarctation of aorta Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Edema Systemic lupus erythematosus Short stature

Rare Symptoms - Less than 30% cases


Pulmonary insufficiency Erythema Hypertension Calcification of the aorta Vasculitis Lymphadenopathy Scarring Scoliosis Recurrent infections Arthralgia Abnormality of the skeletal system Glaucoma Splenomegaly Diarrhea Pain Neoplasm Pleural effusion Flexion contracture Abnormality of the dentition Ventricular septal defect Recurrent viral infections B-cell lymphoma Autoimmune hemolytic anemia Combined immunodeficiency Recurrent bacterial infections Lymphopenia Recurrent fungal infections Neutropenia Verrucae Immunodeficiency Atrial septal defect Bruising susceptibility Raynaud phenomenon Hyperkeratosis Hyperextensible skin Palmoplantar cutis laxa Right ventricular hypertrophy Failure to thrive Cutis laxa Pulmonic stenosis Aortic regurgitation Venous thrombosis Inguinal hernia Dyspnea Hernia Renal insufficiency Fatigue Heart murmur Hypertelorism Hoarse voice Umbilical hernia Generalized hypotonia Joint hyperflexibility Gastrointestinal hemorrhage Microdontia Webbed neck Abnormality of the cardiovascular system Low posterior hairline Left ventricular hypertrophy Hyperpigmentation of the skin Osteoarthritis Relative macrocephaly Fine hair Blue sclerae Joint hypermobility Absence of lymph node germinal center Abnormality of the sternum Curly hair Arachnodactyly Acute lymphoblastic leukemia Carious teeth Joint laxity Pes planus Graves disease Chylothorax Osteoporosis Micrognathia Leukemia IgM deficiency Abnormal cardiac septum morphology Reduced red cell adenosine deaminase activity Hypoplastic left heart Low-set ears Tetralogy of Fallot Cognitive impairment Pulmonary edema Atopic dermatitis Dry skin Delayed speech and language development Abnormal facial shape Muscle weakness Absent specific antibody response Epicanthus Macrocephaly Hypertrophic cardiomyopathy Anti-thyroid peroxidase antibody positivity Downslanted palpebral fissures Lack of T cell function Severe B lymphocytopenia Short neck Abnormality of humoral immunity Cardiomyopathy Patent ductus arteriosus Abnormal heart morphology Absent tonsils Tall stature Polyhydramnios Thin skin Dermal atrophy Gingival overgrowth Sinusitis Aplasia of the thymus Pneumonia Anterior rib cupping Recurrent respiratory infections Hepatosplenomegaly Respiratory tract infection Platyspondyly Diffuse mesangial sclerosis Sepsis Asthma Hepatitis Recurrent otitis media Chronic diarrhea B lymphocytopenia Global developmental delay Decrease in T cell count Recurrent pneumonia Purpura Leukoencephalopathy Eosinophilia Recurrent upper respiratory tract infections Abnormality of pelvic girdle bone morphology Malnutrition IgA deficiency Autoimmune thrombocytopenia Increased IgE level Cellular immunodeficiency Severe combined immunodeficiency Recurrent lower respiratory tract infections Hepatomegaly Alveolar bone loss around teeth Joint dislocation Gingival bleeding Osteolysis Allergy Urticaria Immunoglobulin IgG2 deficiency Hypermelanotic macule Agenesis of permanent teeth Atrophic scars Long nose Recurrent opportunistic infections Skin vesicle Fragile skin Abnormal joint morphology Striae distensae Premature loss of teeth Subarachnoid hemorrhage Atrophy of alveolar ridges Soft skin Gingivitis Periodontitis Cortical sclerosis Generalized joint laxity Mitral stenosis Chronic pain Premature loss of primary teeth Poor wound healing Ptosis Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Cigarette-paper scars Anemia Cryptorchidism Alopecia Bowel diverticulosis Aortic rupture Repeated pneumothoraces Seizures Ataxia Cataract Hyperreflexia Fever Gait disturbance Blindness Behavioral abnormality Headache Visual loss Abdominal pain Subglottic stenosis Weight loss Reduced visual acuity Photophobia Myalgia Developmental regression Irritability Joint stiffness Retinopathy Abnormal pyramidal sign Stroke Cough Papule Nausea and vomiting Malabsorption Uterine prolapse Upper airway obstruction Confusion Respiratory failure Mitral valve prolapse Epistaxis Abnormality of the genitourinary system Menorrhagia Prolonged bleeding time Impaired platelet aggregation Joint hemorrhage Reduced factor VIII activity Prolonged bleeding after surgery Gastrointestinal angiodysplasia Prolonged whole-blood clotting time Feeding difficulties Respiratory distress Skin rash Premature skin wrinkling Full cheeks Abnormality of the face Bronchiectasis Redundant skin Aortic aneurysm Stridor Emphysema Infantile spasms Abnormal heart valve morphology Prematurely aged appearance Aortic root aneurysm Pulmonary artery stenosis Heart block Aortic dissection Paresthesia Vertigo Intellectual disability Iritis Alopecia areata Endocarditis Oral ulcer Pleuritis Thrombophlebitis Erythema nodosum Immunologic hypersensitivity Chorioretinitis Optic neuritis Anterior uveitis Posterior uveitis Iridocyclitis Increased inflammatory response Retrobulbar optic neuritis Recurrent aphthous stomatitis Orchitis Superficial thrombophlebitis Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Hypopyon Hemolytic anemia Lymphoma Patent foramen ovale Increased antibody level in blood Chronic mucocutaneous candidiasis Lymphoproliferative disorder Bicuspid aortic valve Stomatitis Arterial thrombosis Chest pain Acne Migraine Memory impairment Abnormal blistering of the skin Myocardial infarction Hemiparesis Subcutaneous nodule Anorexia Meningitis Pancreatitis Cranial nerve paralysis Increased intracranial pressure Encephalitis Rheumatoid arthritis Inflammation of the large intestine Abnormal myocardium morphology Epiphora Blurred vision Glomerulopathy Keratoconjunctivitis sicca Pericarditis Hemoptysis Pulmonary embolism Aseptic necrosis Uveitis Pustule Pulmonary infiltrates Gangrene Myositis Cerebral ischemia Atrioventricular canal defect



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