Autoimmunity, and Tetralogy of Fallot

Diseases related with Autoimmunity and Tetralogy of Fallot

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


Top matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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Other less relevant matches:

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

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 KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilated cardiomyopathy
  • Tetralogy of Fallot
  • Atrial fibrillation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5

Low match PARTIAL ATRIOVENTRICULAR CANAL


Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.

PARTIAL ATRIOVENTRICULAR CANAL Is also known as pavc|asd|partial atrioventricular canal defect

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilatation
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL ATRIOVENTRICULAR CANAL

Top 5 symptoms//phenotypes associated to Autoimmunity and Tetralogy of Fallot

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Purpura Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias Intellectual disability Scoliosis Short stature Abnormal facial shape Hypothyroidism Global developmental delay Obesity Thrombocytopenia Ptosis Abnormality of cardiovascular system morphology Seizures Immunodeficiency Cryptorchidism Autoimmune thrombocytopenia Hearing impairment Microcephaly Anemia Bicuspid aortic valve Cleft palate Short neck Graves disease Autoimmune hemolytic anemia Hemolytic anemia Bulbous nose Truncus arteriosus Specific learning disability Anal atresia Acne Renal dysplasia Low-set ears Low posterior hairline Strabismus Micrognathia Spina bifida Hypocalcemia Hypertelorism Aortic valve stenosis Impaired T cell function Schizophrenia Nasal speech Coarctation of aorta Umbilical hernia Cholelithiasis Depressivity Muscular hypotonia Meningocele Cognitive impairment High palate Delayed speech and language development Epicanthus Hydrocephalus Failure to thrive Behavioral abnormality Recurrent infections Hypoparathyroidism Abnormality of the pinna Hernia Inguinal hernia Posterior embryotoxon Posteriorly rotated ears Seborrheic dermatitis Anxiety Bipolar affective disorder Vitiligo Arthritis

Rare Symptoms - Less than 30% cases


Abnormal thrombocyte morphology Retinal vascular tortuosity Duodenal stenosis Juvenile rheumatoid arthritis Conotruncal defect Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Micropenis Right aortic arch Aplasia of the uterus Astigmatism Aplasia of the thymus Gastrointestinal hemorrhage Abnormality of the dentition Downslanted palpebral fissures Wide nasal bridge Polyhydramnios Feeding difficulties in infancy Abnormality of the middle ear Hypoplasia of the thymus Intestinal malrotation Tetany Polymicrogyria Arteria lusoria Short philtrum Attention deficit hyperactivity disorder Abnormality of the kidney Telecanthus Hydronephrosis Narrow mouth Microphthalmia Sacral meningocele Right aortic arch with mirror image branching Patellar dislocation Myelomeningocele Intellectual disability, mild Conductive hearing impairment Unilateral renal agenesis Arnold-Chiari malformation Rheumatoid arthritis Amenorrhea Psoriasiform dermatitis Renal agenesis Blepharophimosis Primary amenorrhea Vesicoureteral reflux Abnormal cardiac septum morphology Hypoplasia of the corpus callosum Pulmonic stenosis Inflammation of the large intestine Fever Heterotopia Anorectal anomaly Chorea Cataract Anal stenosis Dilatation Bifid uvula Generalized hypotonia Retrognathia Visual loss Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Hyperpigmentation of the skin Hypodontia Relative macrocephaly Ventricular hypertrophy Left ventricular hypertrophy Otitis media Microdontia Congenital diaphragmatic hernia Blue sclerae Small nail Abnormality of the cardiovascular system Recurrent otitis media Long eyelashes Webbed neck Cafe-au-lait spot Leukemia Abnormal vertebral morphology Sparse and thin eyebrow Increased body weight Single transverse palmar crease Systemic lupus erythematosus Hyperextensible skin Brachydactyly Growth delay Hypoglycemia Jaundice Pes planus Feeding difficulties Macrotia Myopia Palmoplantar cutis laxa Abnormality of the skeletal system Diarrhea Congenital hip dislocation Renal insufficiency Severe short stature Pneumonia Joint laxity Intellectual disability, moderate Highly arched eyebrow Coloboma Hirsutism Wide nose Joint hypermobility Clinodactyly Pleural effusion Malabsorption Abnormality of the sternum Postnatal growth retardation Curly hair Paralysis Acute lymphoblastic leukemia Protruding ear Respiratory tract infection Chylothorax Kyphosis Trichorrhexis nodosa Horseshoe kidney Sclerosing cholangitis Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Single ventricle Nocturnal lagophthalmos Crossed fused renal ectopia Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Vertical orbital dystopia Anoperineal fistula Diaphragmatic eventration Persistent left superior vena cava Perineal hypospadias Microphallus Ambiguous genitalia Tetralogy of Fallot with pulmonary atresia Atrial septal dilatation Second degree atrioventricular block Subvalvular aortic stenosis Congenital mitral stenosis Secundum atrial septal defect Arrhythmia Double outlet right ventricle Atrial fibrillation Dilated cardiomyopathy Atrioventricular canal defect Hypoplastic left heart Bronchomalacia Ureteropelvic junction obstruction Hyperbilirubinemia Preauricular pit Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Bilateral cryptorchidism Cerebellar vermis atrophy Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Transposition of the great arteries Congenital hypothyroidism Recurrent ear infections Mitral stenosis Anterior plagiocephaly Hyperkeratosis Broad philtrum Small face Cholangitis Optic nerve coloboma Retinal coloboma Thyroiditis Short 5th finger Depressed nasal tip Short columella Scaphocephaly Overweight Hashimoto thyroiditis IgA deficiency Hypertrophic cardiomyopathy Carious teeth Edema Unilateral primary pulmonary dysgenesis Microtia Craniosynostosis Cleft lip Hypertonia Flexion contracture Neoplasm Unilateral lung agenesis Iris coloboma Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Generalized tonic-clonic seizures High, narrow palate Paranoia Perisylvian polymicrogyria Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Alcoholism Short palpebral fissure Femoral hernia Anterior segment developmental abnormality Sclerocornea Exotropia Amblyopia Broad thumb Giant platelets Mood swings Type I truncus arteriosus Congenital cataract Hallucinations Open mouth Psychosis Peripheral demyelination Underdeveloped nasal alae Dysmetria Mental deterioration Narrow palpebral fissure Aggressive behavior Hyperactivity Dementia Absent speech Cerebellar atrophy Intellectual disability, severe Multicystic kidney dysplasia Holoprosencephaly Pulmonary artery atresia Axonal loss Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Submucous cleft hard palate Basal ganglia calcification Abnormality of the hand Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Parathyroid agenesis Intrauterine growth retardation Cardiomyopathy Arrhinencephaly Tricuspid atresia Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Abnormal pulmonary valve morphology Small earlobe Occipital myelomeningocele Abnormality of the pharynx Abnormal aortic valve morphology Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Atelectasis Abnormality of the tonsils Bruising susceptibility Abnormal eyelid morphology Myelofibrosis Macrocephaly Reduced prothrombin consumption Absence of alpha granules Abnormal platelet aggregation Abnormal platelet function Anisopoikilocytosis Increased mean platelet volume Abnormal bleeding Ecchymosis Anisocytosis Prolonged bleeding time Petechiae Menorrhagia Epistaxis Varicose veins Abnormality of the skull Optic atrophy Autism Long face Arachnodactyly Joint hyperflexibility Prominent nasal bridge Myalgia Gastroesophageal reflux Glaucoma Renal hypoplasia Upslanted palpebral fissure Constipation Malar flattening Long philtrum Splenomegaly Talipes equinovarus Asthma Choanal atresia Multiple renal cysts Chronic otitis media Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Overfolded helix Aganglionic megacolon Abnormality of the thorax Hand polydactyly Polycystic kidney dysplasia Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Testicular dysgenesis



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