Immunodeficiency, and Tetralogy of Fallot

Diseases related with Immunodeficiency and Tetralogy of Fallot

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

Top matches:

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

CAYLER CARDIOFACIAL SYNDROME Is also known as depressor anguli oris muscle, hypoplasia of|facial paresis, partial, unilateral|asymmetric crying facies|acf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CAYLER CARDIOFACIAL SYNDROME

Other less relevant matches:

Medium match 3C SYNDROME

Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C 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

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

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

Low match CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Ventricular septal defect Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Patent ductus arteriosus Very Common - Between 80% and 100% cases
Atrial septal defect Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Hypothyroidism

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Hernia Narrow mouth Generalized hypotonia Abnormality of the pinna Downslanted palpebral fissures Intrauterine growth retardation Anemia Hypocalcemia Inguinal hernia Hypospadias Micrognathia Hydrocephalus Anal atresia Depressivity Posterior embryotoxon Growth delay Impaired T cell function Purpura Ptosis Renal dysplasia Umbilical hernia Thrombocytopenia Obesity Pulmonic stenosis Renal agenesis Short neck Bifid uvula Feeding difficulties in infancy Hydronephrosis Obsessive-compulsive behavior Attention deficit hyperactivity disorder Prominent nasal bridge Vesicoureteral reflux Spina bifida Truncus arteriosus Strabismus Autoimmunity Prominent forehead Gastroesophageal reflux Recurrent infections Depressed nasal bridge Cognitive impairment Abnormal cardiac septum morphology Microtia Bulbous nose Microphthalmia Abnormality of the skeletal system Nasal speech Optic atrophy Brachydactyly Delayed speech and language development Feeding difficulties Specific learning disability Cupped ear Schizophrenia Autism Autoimmune hemolytic anemia Toe syndactyly Cholelithiasis Hypoparathyroidism Recurrent respiratory infections Malar flattening Autoimmune thrombocytopenia Flexion contracture Anal stenosis Bipolar affective disorder Vitiligo Meningocele Abnormality of the dentition High, narrow palate Highly arched eyebrow Renal hypoplasia Choanal atresia Acne Seborrheic dermatitis Preauricular skin tag Interrupted aortic arch Hemolytic anemia Polyhydramnios Syndactyly High palate Epicanthus Cryptorchidism Unilateral renal agenesis Hand polydactyly Perimembranous ventricular septal defect Horseshoe kidney Low posterior hairline Posteriorly rotated ears Intestinal malrotation Retrognathia Iris coloboma Growth hormone deficiency Conductive hearing impairment Postnatal growth retardation Cleft lip Abnormality of the kidney Anxiety Long philtrum Pneumonia Coloboma Blepharophimosis Arthritis

Rare Symptoms - Less than 30% cases

Long face Underdeveloped nasal alae Hip dislocation Ventriculomegaly Chorioretinal coloboma Aplasia/Hypoplasia of the cerebellum Inflammation of the large intestine Fever Dilatation Arachnodactyly Hypoplasia of the corpus callosum Small nail Cataract Visual loss Joint hyperflexibility Double outlet right ventricle Facial asymmetry Carious teeth Pierre-Robin sequence Mitral stenosis Abnormality of the hand Chorea Amenorrhea Bicuspid aortic valve Primary amenorrhea Paralysis Small face Tics Low-set, posteriorly rotated ears Bowel incontinence Preauricular pit Decreased antibody level in blood Dysphagia Holoprosencephaly Arnold-Chiari malformation Hemivertebrae Glaucoma Dandy-Walker malformation Retinal coloboma Rheumatoid arthritis Thin upper lip vermilion Congenital hip dislocation Psoriasiform dermatitis Constipation Hypoglycemia Micropenis Kyphosis Abnormality of the urinary system Facial palsy Broad forehead Short philtrum Jaundice Telecanthus Microdontia Respiratory tract infection Abnormality of the liver Delayed puberty Polymicrogyria Wide nose Sacral meningocele Right aortic arch with mirror image branching Premature birth Aciduria Abnormal aortic valve morphology Arrhinencephaly Astigmatism Diarrhea Aplasia of the thymus Overfolded helix Splenomegaly Intellectual disability, mild Cutaneous syndactyly Talipes equinovarus Mixed hearing impairment Laryngomalacia Parathyroid hypoplasia Abnormality of the thymus Coarctation of aorta Abnormality of the middle ear Hypoplasia of the thymus Tetany Abnormality of dental enamel Patellar dislocation Frontal bossing Anteverted nares Arteria lusoria Sparse hair Aortic regurgitation Myopia Humoral immunodeficiency Myelomeningocele Neoplasm Juvenile rheumatoid arthritis Aplasia of the uterus Graves disease Trichorrhexis nodosa Sensorineural hearing impairment Peripheral pulmonary artery stenosis Abnormal thrombocyte morphology Cerebellar atrophy Joint hypermobility Clinodactyly of the 5th finger Right aortic arch Platybasia Anorectal anomaly Pes planus Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Brittle hair Hypogonadotrophic hypogonadism Anosmia Lymphopenia Chronic otitis media Hypogonadism Short thumb Nystagmus Abnormality of the genital system Abnormality of vision Reduced number of teeth Dysphasia Abnormality of the thorax Polycystic kidney dysplasia Abnormality of the outer ear Short chin Blindness Cranial nerve paralysis Respiratory insufficiency Torticollis Hypopigmented skin patches Foot polydactyly Plagiocephaly Aspiration Narrow face Hyperthyroidism Abnormality of the skull Occipital myelomeningocele Abnormal aortic arch morphology Abnormality of the eye Abnormal pulmonary valve morphology Pectus carinatum Talipes Cleft upper lip Small earlobe Abnormality of the pharynx Retinal arteriolar tortuosity Hypertensive crisis Corneal neovascularization Abnormality of the uterus Chronic obstructive pulmonary disease Midface retrusion Photophobia Omphalocele Delayed eruption of teeth Webbed neck Abnormality of the ribs Atelectasis Varicose veins Multiple suture craniosynostosis Tricuspid atresia Respiratory failure Abnormal eyelid morphology Apnea Multiple renal cysts Abnormality of the tonsils Turricephaly Abnormal lung lobation Ventricular arrhythmia Aplasia/Hypoplasia of the earlobes Anophthalmia Increased body weight Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Bundle branch block Hydroureter Bilateral cryptorchidism Precocious puberty Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Hyperbilirubinemia Sparse and thin eyebrow Thyroiditis Dental malocclusion Protruding ear Malabsorption Hirsutism Single transverse palmar crease Hypodontia Prominent nose Otitis media Abnormal vertebral morphology Congenital diaphragmatic hernia Blue sclerae Recurrent otitis media Heterotopia Long eyelashes Cafe-au-lait spot Congenital hypothyroidism IgA deficiency Joint laxity Epibulbar dermoid Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Common atrium Vertebral clefting Recurrent aspiration pneumonia Hashimoto thyroiditis Cholangitis Overweight Scaphocephaly Short columella Depressed nasal tip Short 5th finger Optic nerve coloboma Broad philtrum Prominent fingertip pads Anterior plagiocephaly Recurrent ear infections Ureteropelvic junction obstruction Diaphragmatic eventration Bronchomalacia Biliary atresia Intellectual disability, moderate Macrotia Bifid scrotum Abnormally large globe Dimple chin Abnormality of female internal genitalia Microphallus Lacrimation abnormality Gonadotropin deficiency Anterior hypopituitarism Gastrointestinal hemorrhage Aqueductal stenosis Labial hypoplasia Abnormality of tibia morphology Hyposmia Facial paralysis Duodenal atresia Eyelid coloboma Choanal stenosis Abnormality of the cervical spine Weak cry Tracheoesophageal fistula Mask-like facies Hypoplasia of the ulna Vestibular dysfunction External genital hypoplasia Broad palm Abnormality of immune system physiology Abnormal cranial nerve morphology Absent radius Esophageal atresia External ear malformation Broad neck Down-sloping shoulders Hypoplasia of the zygomatic bone Narrow naris Lop ear Severe short stature Poikilocytosis Meningitis Aminoaciduria Abnormality of the ureter Abnormal toenail morphology Anisocytosis Megaloblastic anemia Oroticaciduria Neutropenia Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Renal insufficiency Clinodactyly Hip dysplasia Hematuria Bilateral choanal atresia Aplasia/Hypoplasia of the thymus Aortic arch aneurysm Abnormality of the adrenal glands Abnormality of bone mineral density Abnormal palmar dermatoglyphics Square face Abnormality of the inner ear Unilateral facial palsy Posterior choanal atresia Hand monodactyly Hypoplasia of the cochlea Bifid femur Abnormal soft palate morphology Hypoplasia of the semicircular canal Parachute mitral valve Aganglionic megacolon Myopathic facies Asthma Hypermethioninemia Polydactyly Coma Motor delay Hypoplasia of the maxilla Sudden cardiac death Syncope Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Renal cortical microcysts Hyperlordosis Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Abnormality of the pancreas Villous atrophy Large forehead Woolly hair Deeply set eye Smooth philtrum Underdeveloped supraorbital ridges Language impairment Dermoid cyst Branchial fistula Body odor Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Autistic behavior Ulnar deviation of finger Congenital contracture Aortic aneurysm Short palm Pyloric stenosis Hemangioma Sandal gap Spina bifida occulta Oculomotor apraxia Coxa valga Pointed chin Recurrent urinary tract infections Bowing of the long bones Interphalangeal joint contracture of finger Short distal phalanx of finger Thrombocytosis Iron deficiency anemia Hypertrophic cardiomyopathy Cutaneous syndactyly of toes Hepatomegaly Bradycardia Cardiac arrest Ventricular tachycardia Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Torsade de pointes Hypoplasia of dental enamel Hypothermia Amelogenesis imperfecta Protruding tongue Cutaneous finger syndactyly Bronchitis Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Patent foramen ovale Atrioventricular block Sinusitis Edema Curly hair Round face Abnormality of the immune system Hypoalbuminemia Recurrent upper respiratory tract infections Leukopenia Abnormality of the hair Hepatic fibrosis Chronic diarrhea Depressed nasal ridge Fine hair Pancytopenia Sepsis Abnormality of the face Hepatic failure Cirrhosis Dry skin Esotropia Small for gestational age Wide mouth Elevated hepatic transaminase Proptosis Cardiomegaly Osteoporosis Pulmonary arterial hypertension Asymmetric crying face Macrocephaly Myalgia Basal ganglia calcification Giant platelets Paranoia Mood swings Pulmonary artery atresia Abnormality of the endocrine system Echolalia Delusions Hearing abnormality Submucous cleft hard palate Axonal loss Abnormality of the ear Psychotic episodes Optic nerve hypoplasia Hypoplasia of the brainstem Apathy Dysdiadochokinesis Narrow palpebral fissure Multicystic kidney dysplasia Hallucinations Myopathy Open mouth Psychosis Velopharyngeal insufficiency Central nervous system degeneration Dysmetria Anterior segment developmental abnormality Upslanted palpebral fissure Type I truncus arteriosus Parathyroid agenesis Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Perisylvian polymicrogyria Alcoholism Femoral hernia Sclerocornea Vascular ring Exotropia Amblyopia Broad thumb Short palpebral fissure Generalized tonic-clonic seizures Craniosynostosis Hypertonia Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Peripheral demyelination Congenital cataract Short nose Hypoplasia of penis Congenital glaucoma Mesomelia Prominent occiput Hypoplastic left heart Abnormality of neuronal migration Narrow palate Wormian bones Aortic valve stenosis Large fontanelles Cerebellar vermis hypoplasia Limb undergrowth Atrioventricular canal defect Arrhythmia Postural instability Oral cleft Finger syndactyly Neurological speech impairment Camptodactyly Skeletal dysplasia High forehead Brachycephaly Cerebellar hypoplasia Alopecia Abnormality of the hip bone Narrow nasal bridge Mental deterioration Abnormality of the fontanelles or cranial sutures Aggressive behavior Hyperactivity Dementia Absent speech Intellectual disability, severe Primum atrial septal defect Cerebellar malformation Facial hemangioma Contractures of the large joints Posterior fossa cyst Abnormal tricuspid valve morphology Encephalopathy Lethal skeletal dysplasia Complete atrioventricular canal defect Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Hypoplastic fingernail Communicating hydrocephalus Enlarged cisterna magna Ectopic anus Single umbilical artery Missing ribs Adrenal hypoplasia Congenital mitral stenosis


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