Congestive heart failure, and Abnormality of extrapyramidal motor function

Diseases related with Congestive heart failure and Abnormality of extrapyramidal motor function

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Abnormality of extrapyramidal motor function that can help you solving undiagnosed cases.


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Low match ACERULOPLASMINEMIA


Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Low match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2


Spinocerebellar ataxia with axonal neuropathy type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2 Is also known as ataxia-oculomotor apraxia 2|scan 2|scar1|ataxia-ocular apraxia 2|aoa2|ataxia-oculomotor apraxia type 2

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 2

Low match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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Low 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; MAHCC

Low match GM1-GANGLIOSIDOSIS, TYPE I


GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Low 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 1

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 PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match LONG QT SYNDROME 13; LQT13


Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (OMIM ).

Related symptoms:

  • Seizures
  • Hypertension
  • Congestive heart failure
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 13; LQT13

Low match INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY


Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.

INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY Is also known as combined oxidative phosphorylation defect type 16|coxpd16

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Headache
  • Elevated hepatic transaminase
  • Hypertrophic cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE HYPERTROPHIC CARDIOMYOPATHY DUE TO MRPL44 DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Abnormality of extrapyramidal motor function

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dementia Muscle weakness Strabismus Scoliosis Global developmental delay Short stature Spasticity Dystonia Dysarthria Anemia Hypertension Kyphosis Cardiomegaly Intellectual disability Macrotia Muscular hypotonia Nystagmus Slurred speech Hepatosplenomegaly Corneal opacity Recurrent respiratory infections Abnormal facial shape Growth delay Hypertrophic cardiomyopathy Proteinuria Failure to thrive Paralysis Hypertonia Gait ataxia Arrhythmia Splenomegaly Confusion Cardiomyopathy Neurodegeneration Parkinsonism Chorea Memory impairment Elevated serum creatine phosphokinase Involuntary movements Hepatomegaly Behavioral abnormality

Rare Symptoms - Less than 30% cases


Cataract Thrombocytopenia Feeding difficulties Visual impairment Cerebral cortical atrophy Weight loss High forehead Renal insufficiency Ventricular arrhythmia Microcephaly Hearing impairment Generalized hypotonia Abnormal social behavior Bipolar affective disorder Insomnia Restlessness Obsessive-compulsive behavior Cardiac arrest Atrial fibrillation Hemolytic anemia Paresthesia Lower limb muscle weakness Abnormality of movement Arthritis Coarse facial features Malabsorption Postural instability Hemiparesis Myopia Delayed skeletal maturation Osteoporosis Abdominal pain Osteopenia Neurological speech impairment Abnormal bleeding Abnormal form of the vertebral bodies Syncope Abnormality of the cardiovascular system Increased bone mineral density Reduced bone mineral density Cholelithiasis Portal hypertension Glaucoma Periorbital edema Gingival overgrowth Macroglossia Smooth philtrum Depressed nasal bridge Abnormality of skin pigmentation Nevus flammeus Hematuria Hepatic steatosis Pancytopenia Pulmonary arterial hypertension Recurrent urinary tract infections Anorexia Hyperreflexia Broad nasal tip Long philtrum Inguinal hernia Mental deterioration Arthralgia Developmental regression Hyperlordosis Joint stiffness Abdominal distention Dilated cardiomyopathy Feeding difficulties in infancy Anxiety Sensorimotor neuropathy Diabetes mellitus Hypothyroidism Difficulty walking Gait imbalance Rigidity Increased antibody level in blood Sensory axonal neuropathy Retinal degeneration Oculomotor apraxia Polyuria Fatigue Increased serum ferritin Apraxia Sensory neuropathy Peripheral neuropathy Skeletal muscle atrophy Dysphagia Areflexia Babinski sign Elevated hepatic transaminase Headache Respiratory distress Cirrhosis Delayed speech and language development Gait disturbance Dyspnea Myopathy Constipation Myocardial infarction Thick lower lip vermilion Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Coarctation of aorta Ventricular septal defect Hypoplasia of penis Narrow forehead Mitral valve prolapse Hypotelorism Recurrent otitis media Tetralogy of Fallot Dehydration Microdontia Renal agenesis Otitis media Esotropia Dental malocclusion Pulmonary embolism Vesicoureteral reflux Prolonged QT interval Nephrolithiasis Open mouth Macrocephaly Flexion contracture Telangiectasia of the skin Nephrocalcinosis Hemivertebrae Hypogonadotrophic hypogonadism Epicanthus Varicose veins Wide nasal bridge Vascular skin abnormality Intrauterine growth retardation Pointed chin Peripheral arteriovenous fistula Mitral regurgitation Hypertrophy of the lower limb Hypertrophy of the upper limb Increased body weight Tachycardia Narrow face Hoarse voice Aortic valve stenosis Atrioventricular block Amblyopia Coronary artery atherosclerosis Chest pain Atrial septal defect Paroxysmal atrial fibrillation Cerebellar hypoplasia Irritability Obesity Pectus excavatum Abnormal cardiac septum morphology Patent ductus arteriosus Abnormal heart morphology Scarring Blepharophimosis Craniosynostosis Wide mouth Autistic behavior Protruding ear Abnormality of the kidney Stroke Low-set, posteriorly rotated ears Intellectual disability, moderate Cleft lip Joint laxity Pes planus Umbilical hernia Kyphoscoliosis Gastroesophageal reflux Autism Micropenis Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Broad forehead Abnormality of the dentition Vocal cord dysfunction Torsade de pointes Sudden cardiac death Full cheeks Respiratory tract infection Increased serum lactate Hypodontia Intellectual disability, mild Abnormality of mitochondrial metabolism Short nose Sleep disturbance Everted lower lip vermilion Thick vermilion border Small for gestational age Malar flattening Oral cleft Microvesicular hepatic steatosis Dysmetria Joint hyperflexibility Genu valgum Midface retrusion Absent speech Carious teeth Nausea and vomiting Pulmonic stenosis Hernia Atrophy/Degeneration involving the corticospinal tracts Functional abnormality of male internal genitalia Abnormality of dental enamel Food intolerance Decreased plasma carnitine Periorbital fullness Retinal arteriolar tortuosity Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Hyperacusis Pelvic kidney Infantile hypercalcemia Subvalvular aortic stenosis Abnormality of the gastric mucosa Renovascular hypertension Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Tubulointerstitial nephritis Calcification of the aorta Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Peripheral pulmonary artery stenosis Abnormal renal morphology Blue irides Retinal vascular tortuosity Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Obsessive-compulsive trait Abnormal endocardium morphology Nocturia Synostosis of joints Thyroid hypoplasia Increased nuchal translucency Lacrimation abnormality Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Peptic ulcer Cystic renal dysplasia Bladder diverticulum Abnormal carotid artery morphology Vocal cord paralysis Abnormality of the fingernails Incoordination Abnormality of dental morphology Unilateral renal agenesis Chronic otitis media Nephritis Abnormality of the voice Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Hypercalciuria Dysphonia Polycystic ovaries Abnormality of pelvic girdle bone morphology Tracheoesophageal fistula Adducted thumb Arnold-Chiari malformation Schizophrenia Infantile muscular hypotonia Ischemic stroke Sacral dimple Bicuspid aortic valve Widely spaced teeth Progressive hearing impairment Descending aorta hypoplasia Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Hypoplastic toenails Glucose intolerance Abnormality of the diencephalon Overfriendliness Medial flaring of the eyebrow Cryptorchidism Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Elfin facies Bilateral vocal cord paralysis Pulmonary artery stenosis Thyroid hemiagenesis Poor coordination Soft skin Nystagmus-induced head nodding Arnold-Chiari type I malformation Loss of consciousness Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Facial cleft Early onset of sexual maturation Prematurely aged appearance Dyssynergia High hypermetropia Stellate iris Celiac disease Vertebral segmentation defect Premature graying of hair Hallux valgus Open bite Ptosis Delayed puberty Pain Excessive salivation Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Impaired temperature sensation Generalized limb muscle atrophy Personality disorder Increased muscle fatiguability Hyporeflexia of lower limbs Orofacial dyskinesia Low-set ears Tics Acanthocytosis Supraventricular tachycardia Motor axonal neuropathy Left bundle branch block Ventricular extrasystoles Impaired pain sensation Impaired vibration sensation in the lower limbs Rhabdomyolysis Bowel incontinence Ventricular fibrillation Emotional lability Personality changes Abnormality of the astrocytes Respiratory insufficiency Hallucinations Aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Atherosclerosis Abnormality of retinal pigmentation Broad-based gait Psychosis Pigmentary retinopathy Urinary incontinence Hydrocephalus Neutropenia Metabolic acidosis Nephropathy Joint hypermobility Long face Unsteady gait Congenital cataract Lethargy Hip dislocation Retinopathy Acidosis Reduced visual acuity Intellectual disability, severe Sleep apnea Left ventricular hypertrophy Homocystinuria Cerebellar atrophy Peripheral demyelination Sensory impairment Progressive cerebellar ataxia Polyneuropathy Distal sensory impairment Distal amyotrophy Peripheral axonal neuropathy Abnormality of the foot Abnormal pyramidal sign Distal muscle weakness Pes cavus Hyporeflexia Aceruloplasminemia Telangiectasia Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Blepharospasm Muscle fibrillation Hyperkinesis Cerebral palsy Torticollis Type I diabetes mellitus Poor speech Choreoathetosis Limb ataxia Generalized-onset seizure Saccadic smooth pursuit Neuronal loss in central nervous system Dyskinesia Abnormality of the cerebral white matter Hyperhidrosis Cerebral atrophy Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired distal vibration sensation Elevated alpha-fetoprotein Pontocerebellar atrophy Conjunctival telangiectasia Decreased number of large peripheral myelinated nerve fibers Diplopia Impaired proprioception Head tremor Impaired smooth pursuit Progressive gait ataxia Urinary bladder sphincter dysfunction Cerebellar vermis atrophy Gaze-evoked nystagmus Decreased motor nerve conduction velocity Postural tremor Premature ovarian insufficiency Hypoalbuminemia Hypercholesterolemia Truncal ataxia Methylmalonic aciduria Myelopathy Cleft palate Leukopenia Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Increased susceptibility to fractures Osteolysis Protuberant abdomen Spastic paraparesis Meningitis Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Progressive neurologic deterioration Epistaxis Cyanosis Generalized myoclonic seizures Ascites Bruising susceptibility Lymphadenopathy Aseptic necrosis Gingival bleeding Abnormality of the eye Arthralgia of the hip Sensorineural hearing impairment Micrognathia Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Flank pain Hepatocellular carcinoma Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Abnormality of eye movement EEG abnormality Gastritis Hypomethioninemia Mandibular prognathia Severe short stature Blindness Short neck Abnormality of the skeletal system Frontal bossing Optic atrophy Hypertelorism Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Cystathioninuria Camptodactyly of finger Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Skeletal dysplasia Abnormality of the skin Myoclonus Psychomotor deterioration Diarrhea Motor delay Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Thickened ribs Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Abnormal diaphysis morphology Depressed nasal ridge Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Dysostosis multiplex Beaking of vertebral bodies Generalized dystonia Abnormal heart valve morphology Bundle branch block Encephalitis Abnormality of the urinary system Generalized hirsutism Abnormality of epiphysis morphology Abnormality of the metaphysis Hypertrichosis Decreased activity of mitochondrial respiratory chain



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