Congestive heart failure, and Bradykinesia

Diseases related with Congestive heart failure and Bradykinesia

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


Top matches:

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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Other less relevant matches:

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 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4


PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

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 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6


PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset|park6

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Behavioral abnormality


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

Low match ALZHEIMER DISEASE 4


Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.

ALZHEIMER DISEASE 4 Is also known as ad4|alzheimer disease, familial, 4

Related symptoms:

  • Seizures
  • Tremor
  • Depressivity
  • Dementia
  • Myoclonus


SOURCES: MESH OMIM MENDELIAN

More info about ALZHEIMER DISEASE 4

Top 5 symptoms//phenotypes associated to Congestive heart failure and Bradykinesia

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

Patients with Congestive heart failure and Bradykinesia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Parkinsonism

Uncommon Symptoms - Between 30% and 50% cases


Seizures Rigidity Dystonia Muscle weakness Abnormality of extrapyramidal motor function Memory impairment Anemia Scoliosis Anxiety Spasticity Strabismus Short stature Dysarthria Behavioral abnormality Global developmental delay Hepatomegaly Splenomegaly Hepatosplenomegaly Generalized hypotonia Neuronal loss in central nervous system Hallucinations Intellectual disability Elevated serum creatine phosphokinase Cerebral cortical atrophy Growth delay Failure to thrive Abnormal facial shape Muscular hypotonia Weight loss Macrotia Proteinuria Hyperreflexia Kyphosis Recurrent respiratory infections Corneal opacity Postural instability Resting tremor Nystagmus Lewy bodies Neurodegeneration Chorea Hypertonia Slurred speech Confusion Involuntary movements Gait ataxia

Rare Symptoms - Less than 30% cases


Portal hypertension Cholelithiasis Depressed nasal bridge Dyskinesia Reduced bone mineral density Obsessive-compulsive behavior Personality changes Increased bone mineral density Hematuria Restlessness Polyuria Lower limb muscle weakness Hemolytic anemia Paresthesia Bipolar affective disorder Abnormality of movement Irritability Dilated cardiomyopathy Mental deterioration Cirrhosis Psychosis Increased serum ferritin Dyspnea Pulmonary arterial hypertension Insomnia Difficulty walking Abnormality of skin pigmentation Delayed skeletal maturation Renal insufficiency Retinal degeneration Hypertension Visual impairment Feeding difficulties High forehead Cataract Microcephaly Hearing impairment Myopia Arthritis Myoclonus Abnormality of the cardiovascular system Osteoporosis Abdominal pain Osteopenia Feeding difficulties in infancy Neurological speech impairment Abnormal social behavior Respiratory distress Senile plaques Malabsorption Recurrent urinary tract infections Smooth philtrum Arrhythmia Pancytopenia Myopathy Pain Hyperlordosis Developmental regression Hypertrophic cardiomyopathy Arthralgia Oculomotor apraxia Coarse facial features Sensorimotor neuropathy Apraxia Inguinal hernia Long philtrum Hypothyroidism Sensory neuropathy Increased antibody level in blood Gliosis Hypotension Fatigue Abnormal autonomic nervous system physiology Babinski sign Orthostatic hypotension Areflexia Delayed speech and language development Dysphagia Skeletal muscle atrophy Peripheral neuropathy Neurofibrillary tangles Sensory axonal neuropathy Delirium Thrombocytopenia Abdominal distention Cardiomyopathy Gait disturbance Hypomimic face Anorexia Gingival overgrowth Abnormal form of the vertebral bodies Apathy Cardiomegaly Gait imbalance Macroglossia Periorbital edema Broad nasal tip Diabetes mellitus Joint stiffness Open mouth Mitral valve prolapse Coarctation of aorta Dental malocclusion Esotropia Hypsarrhythmia Thick lower lip vermilion Hypotelorism Myocardial infarction Hypogonadotrophic hypogonadism Narrow forehead Nephrolithiasis Hemiparesis Recurrent otitis media Pointed chin Dehydration Increased body weight Narrow face Small nail Mitral regurgitation Tetralogy of Fallot Type II diabetes mellitus Ventricular hypertrophy Otitis media Renal hypoplasia Hoarse voice Aortic valve stenosis Renal agenesis Microdontia Amblyopia Hypoplasia of penis Functional abnormality of male internal genitalia Vesicoureteral reflux Short nose Micropenis Glaucoma Cerebellar hypoplasia Constipation Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Obesity Hernia Absent speech Midface retrusion Malar flattening Intellectual disability, mild Gastroesophageal reflux Abnormality of the dentition Atrial septal defect Ventricular septal defect Macrocephaly Intrauterine growth retardation Wide nasal bridge Epicanthus Flexion contracture Ptosis Cryptorchidism Cleft palate Sensorineural hearing impairment Micrognathia Auditory hallucinations Autism Kyphoscoliosis Chest pain Stroke Sudden cardiac death Full cheeks Hypodontia Sleep disturbance Everted lower lip vermilion Thick vermilion border Oral cleft Dysmetria Joint hyperflexibility Genu valgum Carious teeth Pulmonic stenosis Small for gestational age Broad forehead Attention deficit hyperactivity disorder Umbilical hernia Abnormal cardiac septum morphology Scarring Blepharophimosis Craniosynostosis Wide mouth Paralysis Autistic behavior Protruding ear Abnormality of the kidney Low-set, posteriorly rotated ears Intellectual disability, moderate Cleft lip Joint laxity Pes planus Nausea and vomiting Unilateral renal agenesis Hemivertebrae Abnormal glucose tolerance Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Akinesia Urinary urgency Parkinsonism with favorable response to dopaminergic medication Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Alzheimer disease Increased nuchal translucency Urethral stenosis Aortic arch aneurysm Bladder diverticulum Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Cystic renal dysplasia Parathyroid hyperplasia Peptic ulcer Rectal prolapse Arterial stenosis Dysgraphia Abnormality of nervous system morphology Phonophobia Overriding aorta Obsessive-compulsive trait Cerebral ischemia Myxomatous mitral valve degeneration Vocal cord dysfunction Stellate iris Dyssynergia Atrophy/Degeneration involving the corticospinal tracts Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Unilateral renal hypoplasia Nocturia Pelvic kidney Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Food intolerance Calcification of the aorta Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Abnormality of refraction Dyslexia Nephrocalcinosis Polycystic ovaries Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Descending aorta hypoplasia Chronic otitis media Nephritis Abnormality of the voice Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Redundant skin Hypercalciuria Dysphonia Incoordination Loss of consciousness Widely spaced teeth Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Bicuspid aortic valve Abnormality of pelvic girdle bone morphology Sacral dimple Ischemic stroke Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Adducted thumb Glucose intolerance Open bite Villous atrophy Hypoplasia of the zygomatic bone Dysphasia Cerebral hemorrhage Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Chronic constipation Cerebral amyloid angiopathy Right ventricular hypertrophy Tubulointerstitial nephritis Large earlobe Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Visual hallucinations Patellar dislocation Hallux valgus Abnormality of lipid metabolism Premature graying of hair Vertebral segmentation defect Celiac disease High hypermetropia Prematurely aged appearance Facial cleft Posterior embryotoxon Abnormality of the vasculature Arnold-Chiari type I malformation Sleep-wake cycle disturbance Nevus flammeus Soft skin Poor coordination Pulmonary artery stenosis Megalocornea Lymphadenopathy Paranoia Orofacial dyskinesia 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 Excessive salivation Tics Abnormality of the astrocytes 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 Ventricular arrhythmia Hyporeflexia of upper limbs Low-set ears Cardiac arrest Neutropenia Cor pulmonale Megaloblastic anemia Thromboembolism Disproportionate tall stature Ectopia lentis Hemiplegia Atherosclerosis Abnormality of retinal pigmentation Broad-based gait Pigmentary retinopathy Aciduria Urinary incontinence Metabolic acidosis Respiratory insufficiency Hepatic steatosis Nephropathy Joint hypermobility Long face Unsteady gait Congenital cataract Lethargy Hip dislocation Retinopathy Acidosis Reduced visual acuity Intellectual disability, severe Hydrocephalus 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 Atrial fibrillation Saccadic smooth pursuit Generalized-onset seizure Abnormality of the cerebral white matter Elevated hepatic transaminase 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 Mutism Spastic paraparesis Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Increased susceptibility to fractures Leukopenia Osteolysis Meningitis Exertional dyspnea Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Progressive neurologic deterioration Epistaxis Cyanosis Syncope Generalized myoclonic seizures Abnormal bleeding Ascites Bruising susceptibility Pathologic fracture Aseptic necrosis Delayed puberty Abnormality of bone marrow cell morphology 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 Arthralgia of the hip Flank pain Spontaneous hematomas Protuberant abdomen 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 Hepatocellular carcinoma Gingival bleeding Abnormality of eye movement Abnormality of the eye Gastritis Decreased methylmalonyl-CoA mutase activity Skeletal dysplasia Mandibular prognathia Severe short stature Blindness Short neck Abnormality of the skeletal system Frontal bossing Optic atrophy Hypertelorism Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Hypomethioninemia Abnormality of the skin Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Camptodactyly of finger Depressed nasal ridge EEG abnormality Exaggerated startle response 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 Psychomotor deterioration Hypertrichosis Abnormal diaphysis morphology 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 Abulia



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