Ataxia, and Tetralogy of Fallot

Diseases related with Ataxia and Tetralogy of Fallot

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


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Low match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

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 ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

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Other less relevant matches:

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Visual impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressivity Intellectual disability Patent ductus arteriosus Abnormal facial shape Anemia Growth delay Scoliosis Microcephaly Hearing impairment Short stature Muscular hypotonia Ptosis Atrial septal defect Coarctation of aorta Generalized hypotonia Behavioral abnormality Intrauterine growth retardation Abnormality of cardiovascular system morphology Cataract Hyperreflexia Pulmonic stenosis Headache Hypertrophic cardiomyopathy Renal insufficiency Nystagmus Anxiety Reduced bone mineral density Irritability Weight loss Delayed speech and language development Fever Ventricular septal defect Spina bifida Hydrocephalus Tremor Peripheral neuropathy Umbilical hernia Hypothyroidism Hyperactivity Epicanthus Strabismus Osteopenia Autism Attention deficit hyperactivity disorder Feeding difficulties Renal agenesis Stroke Optic atrophy Ventriculomegaly Hypertelorism Blindness Failure to thrive Hypertonia Hypertension Hepatomegaly Abnormality of the skeletal system Posterior embryotoxon Acidosis Cleft palate Dysmetria Abnormal cardiac septum morphology Abnormality of the liver Obsessive-compulsive behavior Malabsorption Cryptorchidism Poor coordination Pruritus

Rare Symptoms - Less than 30% cases


Pointed chin Small for gestational age Leukemia Postnatal growth retardation Peripheral pulmonary artery stenosis Pulmonary artery stenosis Abnormality of the kidney Neoplasm Pes planus Broad forehead Increased body weight Diabetes mellitus Renal hypoplasia Clinodactyly of the 5th finger Hematuria Hepatic failure Proteinuria Congestive heart failure Fatigue Respiratory distress Scarring Facial asymmetry Abnormal carotid artery morphology Vertigo Abnormality of the cardiovascular system Glaucoma Kyphoscoliosis Autistic behavior Paralysis Genu valgum Paresthesia Peripheral axonal neuropathy Sudden cardiac death Joint stiffness Mitral valve prolapse Visual loss Hypsarrhythmia Sensorimotor neuropathy Arthralgia Abdominal pain Incoordination Precocious puberty Muscle weakness Gangrene Renovascular hypertension Renal artery stenosis Osteoporosis Intellectual disability, mild Abnormality of skin pigmentation Abnormality of nervous system morphology Lymphoma Aganglionic megacolon Recurrent urinary tract infections Cafe-au-lait spot Tracheoesophageal fistula Glucose intolerance Multiple cafe-au-lait spots Feeding difficulties in infancy Abnormal renal morphology Aplasia/Hypoplasia of the iris Cardiomyopathy Elevated serum creatine phosphokinase Spasticity Wide nasal bridge Duodenal stenosis Blue irides Cerebral ischemia Pain Dysarthria Macrocephaly Respiratory insufficiency Retinal vascular tortuosity Micrognathia Arnold-Chiari malformation Hypospadias Hearing abnormality Anal atresia Developmental regression Increased serum lactate Abnormal vertebral morphology Vesicoureteral reflux Unilateral renal agenesis Apathy Inguinal hernia High palate Hypoplasia of the corpus callosum Conductive hearing impairment Obesity Hernia Specific learning disability Thrombocytopenia Cholelithiasis Psychosis Schizophrenia Open mouth Bicuspid aortic valve Absent speech Renal dysplasia Encephalopathy Metabolic acidosis Aggressive behavior Dystonia Blepharophimosis Arthritis Vomiting Edema Corneal opacity Elfin facies Hyperlordosis Protruding ear Sensorineural hearing impairment Jaw claudication Wide mouth Craniosynostosis Neurological speech impairment Retinal arteritis Low-set, posteriorly rotated ears Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arteritis Glossitis Gastrointestinal infarctions Nausea and vomiting Carious teeth Joint hyperflexibility Smooth philtrum Oral cleft Impaired mastication Abdominal aortic aneurysm Flexion contracture Gastroesophageal reflux Micropenis Midface retrusion High forehead Macrotia Cerebral cortical atrophy Recurrent respiratory infections Cerebellar hypoplasia Constipation Bilateral vocal cord paralysis Coarse facial features Joint laxity Delayed skeletal maturation Pectus excavatum Mediastinal lymphadenopathy Nystagmus-induced head nodding Malar flattening Thyroid hemiagenesis Cleft lip Long philtrum Short nose Intellectual disability, moderate Kyphosis Abnormality of the dentition Myopathy Gait disturbance Myopia Depressed nasal bridge Amaurosis fugax Bladder diverticulum Abnormality of the pleura Acute promyelocytic leukemia Severe lactic acidosis Decreased activity of mitochondrial complex I Hyperhidrosis Concentric hypertrophic cardiomyopathy Alopecia Arrhythmia Decreased activity of mitochondrial complex III Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Subcutaneous neurofibromas Optic neuropathy Soft tissue sarcoma Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Pseudoarthrosis Optic nerve glioma Single ventricle Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Neurofibrosarcoma Myalgia Rhabdomyolysis Recurrent pharyngitis Elevated erythrocyte sedimentation rate Skin ulcer Meningitis Vasculitis Ophthalmoparesis Diabetes insipidus Visual field defect Pericarditis Anorexia Everted lower lip vermilion Aortic dissection Early onset of sexual maturation Arterial thrombosis Overfriendliness Abnormal thrombocyte morphology Diplopia Dyssynergia Patent foramen ovale Dilated cardiomyopathy Cough Ragged-red muscle fibers Severe muscular hypotonia Decreased fetal movement Lactic acidosis Optic disc pallor Neonatal hypotonia Stellate iris Respiratory failure Atrophy/Degeneration involving the corticospinal tracts Epistaxis Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Thick vermilion border Chest pain Sleep disturbance Hallux valgus High hypermetropia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Celiac disease Thyroid hypoplasia Abnormal endocardium morphology Renal duplication Colonic diverticula Vertebral segmentation defect Vascular tortuosity Abnormality of the ankles Premature graying of hair Open bite Phonophobia Abnormality of the voice Hypercalcemia Failure to thrive in infancy Radioulnar synostosis Portal hypertension Obsessive-compulsive trait Aortic arch aneurysm Nephritis Loss of consciousness Chronic otitis media Abnormality of dental morphology Hypoplastic toenails Overriding aorta Polyuria Tubulointerstitial abnormality Prematurely aged appearance Facial cleft Nocturia Enuresis Right ventricular hypertrophy Cystic renal dysplasia Tubulointerstitial nephritis Large earlobe Abnormality of the neck Abnormality of the cerebral vasculature Villous atrophy Chronic constipation Dyslexia Abnormality of refraction Gait imbalance Periorbital fullness Decreased plasma carnitine Subvalvular aortic stenosis Peptic ulcer Hypoplasia of the zygomatic bone Dysgraphia Abnormality of lipid metabolism Arterial stenosis Rectal prolapse Periorbital edema Restlessness Insomnia Megalocornea Arnold-Chiari type I malformation Vocal cord paralysis Nevus flammeus Soft skin Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Redundant skin Synostosis of joints Postural instability Recurrent otitis media Type II diabetes mellitus Ventricular hypertrophy Small nail Thick lower lip vermilion Myocardial infarction Hemiparesis Mitral regurgitation Cardiomegaly Abnormal form of the vertebral bodies Involuntary movements Nephrolithiasis Amblyopia Myxomatous mitral valve degeneration Unilateral renal hypoplasia Paroxysmal bursts of laughter Abnormality of extrapyramidal motor function Aortic valve stenosis Dental malocclusion Hypodontia Broad nasal tip Macroglossia Full cheeks Medial flaring of the eyebrow Lacrimation abnormality Esotropia Hypoplasia of penis Otitis media Microdontia Dehydration Abnormality of the diencephalon Narrow forehead Hypotelorism Gingival overgrowth Hoarse voice Chronic myelogenous leukemia Polycystic ovaries Infantile hypercalcemia Ischemic stroke Infantile muscular hypotonia Food intolerance Adducted thumb Abnormality of pelvic girdle bone morphology Pelvic kidney Abnormality of the gastric mucosa Hyperacusis Dysphonia Retinal arteriolar tortuosity Coronary artery stenosis Hypercalciuria Abnormality of the bladder Sacral dimple Abnormal social behavior Narrow face Impaired visuospatial constructive cognition Increased bone mineral density Hypogonadotrophic hypogonadism Calcification of the aorta Hemivertebrae Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Flat cornea Supravalvular aortic stenosis Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Lisch nodules Cerebral calcification Renal phosphate wasting Psychotic episodes Retinopathy Jaundice Mandibular prognathia Splenomegaly Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Conotruncal defect Renal cyst Velopharyngeal insufficiency Giant platelets Paranoia Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Cirrhosis Triangular face Echolalia Upslanted palpebral fissure Oligohydramnios Sloping forehead Hypopigmentation of the skin Neutropenia Bruising susceptibility Astigmatism Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Abnormality of the eye Carcinoma Proptosis Hypogonadism Cyanosis Exocrine pancreatic insufficiency Pigmentary retinopathy Cholestasis Rickets Heart murmur Long nose Renal tubular acidosis Wolff-Parkinson-White syndrome Severe short stature Cholestatic liver disease Butterfly vertebrae Dark urine Axenfeld anomaly Frontal bossing Microphthalmia Abnormality of the endocrine system Myelomeningocele Short palpebral fissure Encephalomalacia Hemolytic anemia Bulbous nose Congenital cataract Autoimmunity Abnormality of the pinna Mental deterioration Retrognathia Posteriorly rotated ears Dementia Recurrent infections Immunodeficiency Cerebellar atrophy Intellectual disability, severe Short neck Decreased activity of the pyruvate dehydrogenase complex Chorea Tetraplegia Cerebral atrophy Agenesis of corpus callosum Myoclonus Muscular hypotonia of the trunk Lethargy Neurodegeneration Aciduria Acute encephalopathy Spastic tetraplegia Truncal ataxia Aminoaciduria Abnormality of the vertebral column Progressive encephalopathy Titubation Bifid uvula Underdeveloped nasal alae Truncus arteriosus Inflammation of the large intestine Pierre-Robin sequence Delusions Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Amenorrhea Narrow palpebral fissure Peripheral demyelination Low posterior hairline Primary amenorrhea Hallucinations Hypocalcemia Multicystic kidney dysplasia Purpura Acne Holoprosencephaly Abnormality of the hand Nasal speech Dysdiadochokinesis Rheumatoid arthritis Psoriasiform dermatitis Pancytopenia Choanal atresia Schwannoma Abnormal posturing Gastrointestinal hemorrhage Recurrent fractures Hypoglycemia Dilatation Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Generalized hypopigmentation Bone pain Delayed myelination Anteverted nares Skin rash Abnormality of the cerebral white matter Dry skin Nausea Asthma Eczema Fair hair Spontaneous abortion Malnutrition Hypoplastic left heart Scleroderma Iron deficiency anemia Self-mutilation Overgrowth Atherosclerosis Abnormality of the preputium Neoplasm of the endocrine system Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Meningioma Venous thrombosis Pulmonary fibrosis Breast carcinoma Sarcoma Back pain Clitoral hypertrophy Sensory axonal neuropathy Hypophosphatemia Neurofibromas Increased reactive oxygen species production Tibial bowing Freckling Osteomalacia Renal cell carcinoma Severe vision loss Overweight Motor delay Pyridoxine-responsive sideroblastic anemia Abnormality of the genital system Triphalangeal thumb Abnormal eyelid morphology Chromosome breakage External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Myelodysplasia Arteriovenous malformation Type I diabetes mellitus Telangiectasia Short thumb Insulin resistance Hypergonadotropic hypogonadism Bone marrow hypocellularity Horseshoe kidney Leukopenia Hyperinsulinemia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Abnormality of vision Abnormality of the urinary system Abnormality of the ulna B-cell lymphoma Aplasia/Hypoplasia of fingers Low-grade fever Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Meckel diverticulum Abnormality of the upper limb Acute monocytic leukemia Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Abnormality of the hypothalamus-pituitary axis Duplicated collecting system Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Decreased activity of mitochondrial complex IV



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