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:
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
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
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:
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
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
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
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
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
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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