Ataxia, and Pulmonary arterial hypertension
Diseases related with Ataxia and Pulmonary arterial hypertension
In the following list you will find some of the most common rare diseases related to Ataxia and Pulmonary arterial hypertension that can help you solving undiagnosed cases.
Top matches:
Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY
Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.
TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Ataxia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHYMedium match GAUCHER DISEASE, TYPE I
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.
GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile
Related symptoms:
- Seizures
- Generalized hypotonia
- Ataxia
- Failure to thrive
- Strabismus
More info about GAUCHER DISEASE, TYPE I
Medium match ISOLATED CYTOCHROME C OXIDASE DEFICIENCY
Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.
ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM ORPHANET MENDELIAN
More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY
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Other less relevant matches:
Medium match 3Q29 MICRODELETION SYNDROME
3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.
3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion
Related symptoms:
- Intellectual disability
- Global developmental delay
- Microcephaly
- Ataxia
- Failure to thrive
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about 3Q29 MICRODELETION SYNDROMEMedium match MERRF
MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.
MERRF Is also known as fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|merrf syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about MERRFMedium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC
Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MENDELIAN
More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCCMedium match GAUCHER DISEASE TYPE 1
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
- Ataxia
SOURCES: ORPHANET OMIM MENDELIAN
More info about GAUCHER DISEASE TYPE 1Medium match GAUCHER DISEASE TYPE 3
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).
GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
More info about GAUCHER DISEASE TYPE 3
Medium match GAUCHER DISEASE TYPE 2
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about GAUCHER DISEASE TYPE 2
Medium match SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Related symptoms:
- Intellectual disability
- Global developmental delay
- Scoliosis
- Muscle weakness
- Abnormal facial shape
More info about SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES
Top 5 symptoms//phenotypes associated to Ataxia and Pulmonary arterial hypertension
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Seizures | Common - Between 50% and 80% cases |
| Failure to thrive | Common - Between 50% and 80% cases |
| Anemia | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
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Other less frequent symptoms
Patients with Ataxia and Pulmonary arterial hypertension. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Abnormal facial shape
Uncommon Symptoms - Between 30% and 50% cases
Dementia
Common Symptoms - More than 50% cases
Hepatomegaly
Uncommon Symptoms - Between 30% and 50% cases
Congestive heart failure Proteinuria Dyspnea Encephalopathy Arrhythmia Depressivity Thrombocytopenia Fatigue Scoliosis Respiratory insufficiency Exertional dyspnea Generalized myoclonic seizures Hypertension Pancytopenia Spasticity Strabismus Muscular hypotonia Growth delay Microcephaly Generalized hypotonia Short stature Muscle weakness Dysphagia Respiratory distress Edema Hepatosplenomegaly Splenomegaly Delayed skeletal maturation Erlenmeyer flask deformity of the femurs Recurrent respiratory infections Multiple myeloma Mental deterioration Ophthalmoplegia Hematuria Epistaxis Bone pain Interstitial pulmonary abnormality Kyphosis Osteolysis Tremor Anorexia Myoclonus Progressive neurologic deterioration Acidosis Hepatic failure Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Abnormality of the spleen Generalized osteosclerosis Cognitive impairment Spontaneous hematomas Osteopenia Abdominal pain Vertebral compression fractures Orthopnea Decreased beta-glucocerebrosidase protein and activity Hematological neoplasm Cardiac valve calcification Aseptic necrosis Diarrhea Pericardial effusion Abnormality of skin pigmentation Increased antibody level in blood Supranuclear gaze palsy Petechiae Hepatocellular carcinoma Ptosis Abnormal bleeding Ascites Hepatic steatosis Vomiting Myopathy Cirrhosis Skeletal muscle atrophy Lymphadenopathy Abnormality of eye movement Motor delay Syncope Increased susceptibility to fractures Cyanosis Decreased body weight Oculomotor apraxia Leukopenia Poor suck Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Menorrhagia Generalized tonic-clonic seizures Corneal opacity Feeding difficulties Lactic acidosis Gait disturbance Low-set ears Aciduria Hyperammonemia Hypertrophic cardiomyopathy Osteoporosis Neurological speech impairment Delayed puberty Cardiomyopathy Increased serum lactate Hydrops fetalis Aspiration Increased bone mineral density Cataract
Rare Symptoms - Less than 30% cases
Bilateral ptosis Cytochrome C oxidase-negative muscle fibers Increased serum ferritin Respiratory failure Cerebral cortical atrophy Umbilical hernia Ophthalmoparesis Hyperkinesis Mitochondrial myopathy Protuberant abdomen Increased CSF lactate Abnormality of coagulation Weak cry Intellectual disability, moderate Hydrocephalus Short philtrum Hemiplegia Small for gestational age Inguinal hernia Intrauterine growth retardation Hypospadias Slow saccadic eye movements Long face Opisthotonus Pallor Rigidity Dystonia Hypertonia Bulbar palsy Horizontal supranuclear gaze palsy Bipolar affective disorder Aggressive behavior High palate Restrictive deficit on pulmonary function testing Flexion contracture Gastroesophageal reflux Macrotia Gait ataxia Hearing impairment EEG abnormality Developmental regression Behavioral abnormality Poor head control Apathy Optic atrophy Arthritis Leukoencephalopathy Apnea Feeding difficulties in infancy Irritability Difficulty walking Hip dislocation Sensorineural hearing impairment Intention tremor Malabsorption Metabolic acidosis Mitral valve calcification Aortic valve calcification Generalized muscle weakness Psychosis Pigmentary retinopathy Hypersplenism Exercise intolerance Myopia Nystagmus Lethargy Pathologic fracture Abdominal distention Bruising susceptibility Aspiration pneumonia Status epilepticus Abnormality of the eye Vascular calcification Biliary tract obstruction Cystathioninuria Abnormal platelet function Homocystinuria Spastic paraparesis Puberty and gonadal disorders Methylmalonic aciduria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Cystathioninemia Thyroglossal cyst Cor pulmonale Abnormal pyramidal sign Diffuse hepatic steatosis Fractures of the long bones Vitamin B12 deficiency Hemolytic-uremic syndrome Meningitis Hepatic fibrosis Reduced bone mineral density Delirium Osteoarthritis Apraxia Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Leukocytosis Abnormality of the cardiovascular system Osteomyelitis Urogenital fistula Decreased methylcobalamin Arthralgia of the hip Parkinsonism Gingival bleeding Hyperhomocystinemia Right ventricular failure Edema of the lower limbs Decreased adenosylcobalamin Periorbital edema Gastritis Decreased methionine synthase activity Esodeviation Abnormality of macular pigmentation Myelopathy Abnormality of bone marrow cell morphology Flank pain Neurodegeneration Poor eye contact Progressive cerebellar ataxia Giant cell hepatitis Proximal muscle weakness Mandibular prognathia Hyporeflexia Areflexia Talipes equinovarus EEG with temporal sharp waves Slowed horizontal saccades Abnormal platelet aggregation CSF pleocytosis Laryngeal stridor Intestinal bleeding Distal muscle weakness Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Hypoxemia Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Facial palsy Waddling gait Trismus Type 2 muscle fiber atrophy Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Prolonged miniature endplate currents Slow pupillary light response Limited wrist extension Decreased size of nerve terminals Limited extraocular movements Abnormal enzyme/coenzyme activity Impaired mastication EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Triangular mouth Hand muscle weakness Frequent falls Axial muscle weakness Abnormality of the knee Type 1 muscle fiber predominance Right ventricular hypertrophy Recurrent lower respiratory tract infections Hypoventilation Neck muscle weakness Neonatal respiratory distress Easy fatigability Sleep apnea Scapular winging Nonimmune hydrops fetalis Bulbar signs Lymphopenia Abnormal thrombosis Cough Elevated hepatic transaminase Hypoglycemia Jaundice Polyhydramnios Fever Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Abnormal saccadic eye movements Astrocytosis Pulmonary hypoplasia Protein-losing enteropathy Hypercoagulability Thoracic kyphosis Abnormal heart valve morphology Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Pulmonary fibrosis Hypoalbuminemia Nausea Brain atrophy Hypomagnesemia Hyponatremia Fetal akinesia sequence Epileptic spasms Limb hypertonia Atrophy/Degeneration affecting the brainstem Thromboembolism Congenital ichthyosiform erythroderma Hypokinesia Athetosis Heart murmur Akinesia Ectropion Abnormality of the skin Intracranial hemorrhage Purpura Hyperbilirubinemia Knee flexion contracture Hypocalcemia Elbow flexion contracture Cardiac arrest Progressive microcephaly Thickened skin Cholestasis Decreased fetal movement Megaloblastic anemia Ragged-red muscle fibers Disproportionate tall stature Thoracolumbar scoliosis Proximal renal tubular acidosis Renal Fanconi syndrome Hepatic encephalopathy Microvesicular hepatic steatosis Respiratory arrest Thoracolumbar kyphosis Periventricular leukomalacia Hyperphosphaturia Renal tubular dysfunction Progressive encephalopathy Spastic hemiparesis Renal tubular acidosis Glycosuria Polyuria Myotonia Spinal muscular atrophy Polydipsia Hypercalciuria Tachypnea Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Increased intramyocellular lipid droplets Increased hepatocellular lipid droplets Congenital hip dislocation Clinodactyly Cleft lip Joint laxity Anxiety Thin upper lip vermilion Autism Hyperactivity Posteriorly rotated ears Clinodactyly of the 5th finger Patent ductus arteriosus Pectus excavatum Micrognathia Hernia Microphthalmia Short nose Abnormality of the dentition Frontal bossing Downslanted palpebral fissures Macrocephaly Epicanthus Delayed speech and language development Cleft palate Aminoaciduria Decreased liver function Attention deficit hyperactivity disorder Premature birth 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Aplasia/Hypoplasia of the corpus callosum Microretrognathia Interphalangeal joint contracture of finger Oligohydramnios Flat face Gastroparesis Camptodactyly of finger Wide mouth Abnormality of the kidney Neonatal hypotonia Retrognathia Long philtrum Cerebellar atrophy Anteverted nares Wide nasal bridge Cryptorchidism Hyperalaninemia Abnormal pulmonary valve morphology Progressive muscle weakness Hyperreflexia Hemiparesis Spastic tetraplegia Tetraplegia Coma Limb muscle weakness Muscular hypotonia of the trunk Kyphoscoliosis Dilatation Ventriculomegaly Dysarthria Vertical supranuclear gaze palsy Pain Chronic fatigue Pulmonary infiltrates Macular atrophy Oral-pharyngeal dysphagia Stridor Shock Hyperpigmentation of the skin Abnormal lung morphology Pneumonia Abnormality of the skeletal system Respiratory tract infection Pectus carinatum Ectopia lentis Diffuse cerebellar atrophy Visual impairment Basal ganglia necrosis Global systolic dysfunction Lacticaciduria Weakness of facial musculature Abnormality of thalamus morphology EEG with irregular generalized spike and wave complexes EEG with photoparoxysmal response Fatty replacement of skeletal muscle Sinus tachycardia Renal insufficiency Abnormality of brainstem morphology Decreased activity of mitochondrial respiratory chain Increased serum pyruvate Abnormal echocardiogram Portal fibrosis Right ventricular cardiomyopathy Stroke-like episode Gait imbalance Wolff-Parkinson-White syndrome Supraventricular tachycardia Intellectual disability, severe Weight loss Diffuse cerebral atrophy Nephropathy Slurred speech Atherosclerosis Abnormality of retinal pigmentation Recurrent urinary tract infections Broad-based gait Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Neutropenia Hemolytic anemia Reduced visual acuity Joint hypermobility Retinal degeneration Paresthesia Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Congenital cataract Retinopathy High forehead Abnormality of the endocrine system Intrahepatic cholestasis Prominent nasal bridge Narrow face Hypoplasia of the corpus callosum Peripheral neuropathy Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Nasal speech Sandal gap Horseshoe kidney Aortic valve stenosis Hypogonadism Stereotypy Dental crowding Prominent nose Single transverse palmar crease Tapered finger Everted lower lip vermilion Oral cleft Joint hyperflexibility Facial asymmetry Pulmonic stenosis Elevated serum creatine phosphokinase Abnormality of the liver Motor axonal neuropathy EMG: myopathic abnormalities Ventricular extrasystoles Progressive external ophthalmoplegia Lipoma Hyperthyroidism Muscle fibrillation Multiple lipomas Mildly elevated creatine phosphokinase Right bundle branch block Sensory axonal neuropathy Abnormality of mitochondrial metabolism Delayed gross motor development Abnormality of the cerebral white matter External ophthalmoplegia Ventricular tachycardia EMG abnormality Left ventricular hypertrophy Palpitations Hepatitis Generalized-onset seizure Migraine Sensory neuropathy Abnormality of movement Abnormal synaptic transmission at the neuromuscular junction
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