Congestive heart failure, and Apraxia

Diseases related with Congestive heart failure and Apraxia

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


Top matches:

Medium 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

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

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

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Other less relevant matches:

Low 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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low 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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Low match CARDIOMYOPATHY, DILATED, 1U; CMD1U


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1U; CMD1U

Low match CARDIOMYOPATHY, DILATED, 1V; CMD1V


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Oculomotor apraxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Decreased body weight

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Dementia

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Cardiomyopathy Kyphosis Failure to thrive Short stature Scoliosis Delayed skeletal maturation Hypertonia Syncope Dysphagia Splenomegaly Diarrhea Pancytopenia Vomiting Depressivity Ophthalmoplegia Exertional dyspnea Corneal opacity Supranuclear gaze palsy Fatigue Anemia Intellectual disability Growth delay Feeding difficulties in infancy Cardiac valve calcification Decreased beta-glucocerebrosidase protein and activity Spontaneous hematomas Hepatosplenomegaly Thrombocytopenia Encephalopathy Generalized myoclonic seizures Dystonia Abnormality of the cardiovascular system Pulmonary arterial hypertension Cognitive impairment Myoclonus Osteopenia Dyspnea Abdominal pain Nystagmus Abnormal bleeding Leukopenia Ascites Abdominal distention Erlenmeyer flask deformity of the femurs Hematological neoplasm Edema Osteolysis Cyanosis Cirrhosis Abnormal heart valve morphology Epistaxis Heart murmur Progressive neurologic deterioration Orthopnea Recurrent respiratory infections Generalized osteosclerosis Delayed puberty Osteoporosis EEG abnormality Abnormality of the thorax Proteinuria Myopia Motor delay Portal hypertension Neurological speech impairment Clubbing Abnormality of the spleen Menorrhagia Petechiae Abnormality of eye movement Lymphadenopathy Interstitial pulmonary abnormality Cholelithiasis Hepatocellular carcinoma Multiple myeloma Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Anorexia Bilateral ptosis Respiratory distress Feeding difficulties Increased antibody level in blood Peripheral axonal neuropathy Hypertrophic cardiomyopathy Gastroesophageal reflux Generalized hypotonia Hyporeflexia Hearing impairment Spasticity Dilated cardiomyopathy Hydrocephalus Dysarthria Tremor Pallor Generalized tonic-clonic seizures Bone pain

Rare Symptoms - Less than 30% cases


Blindness Short neck Ventriculomegaly Optic atrophy Atopic dermatitis Visual impairment Cerebral atrophy Increased bone mineral density Ptosis Cataract Muscular hypotonia Abnormality of the dentition Acidosis Constipation Cerebral cortical atrophy Autism Hemiparesis Bundle branch block Erythema Increased susceptibility to fractures Hypertelorism Pruritus Ichthyosis Lactic acidosis Cerebral visual impairment Increased serum lactate Hydrops fetalis Aspiration Hyponatremia Puberty and gonadal disorders Vertebral compression fractures Polyhydramnios Intrauterine growth retardation Fever Microcephaly Restrictive deficit on pulmonary function testing Horizontal supranuclear gaze palsy Umbilical hernia Gait disturbance Slow saccadic eye movements Bulbar palsy Opisthotonus Rigidity Aggressive behavior Increased serum ferritin Protuberant abdomen Ectropion Nausea Poor suck Purpura Cardiac arrest Malabsorption Thickened skin Myocardial infarction Lethargy Aseptic necrosis Abnormality of coagulation Irritability Pericardial effusion Developmental regression Apnea Jaundice Abnormality of the sternum Mental deterioration Areflexia Skeletal muscle atrophy Polyneuropathy Elevated serum creatine phosphokinase Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Dry skin Cardiomegaly Ventricular hypertrophy Progressive cerebellar ataxia Abnormality of the pulmonary artery Abnormal pyramidal sign Abnormal aortic valve morphology Abnormal mitral valve morphology Hypoalbuminemia Pes cavus Gait ataxia Abnormal EKG Cerebellar atrophy Neurodegeneration Cachexia Truncal ataxia Hematuria Bruising susceptibility Abnormality of skin pigmentation Abnormality of the eye Muscle weakness Gait imbalance Sensory impairment Peripheral neuropathy Slowed horizontal saccades Cryptorchidism Micrognathia Morphological abnormality of the inner ear Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Frontal bossing Downslanted palpebral fissures Epicanthus Macrocephaly Morphological abnormality of the vestibule of the inner ear Depressed nasal bridge Delayed speech and language development Oral aversion Neoplasm High palate Low-set ears Episodic quadriplegia Bilateral intracranial calcifications Prominent ear helix Infantile spasms Ventricular septal defect Abnormal heart morphology Hyperkeratosis pilaris Abnormality of the hairline Proptosis Hyperkeratosis Abnormal location of ears Hyperhidrosis Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Prominent forehead Posteriorly rotated ears Alopecia Clinodactyly of the 5th finger Inguinal hernia Pectus excavatum Anteverted nares Hernia Inappropriate crying Abnormality of cardiovascular system morphology Abnormality of the auditory canal Malar flattening Multiple palmar creases Long philtrum Short nose Behavioral abnormality Paralytic ileus Intellectual disability, severe Multiple plantar creases Atrial septal defect Eyelid fasciculation Crohn's disease Abnormal mitochondrial shape Delusions Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Transient ischemic attack Speech apraxia Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Left ventricular failure Retinal pigment epithelial atrophy Cochlear degeneration Abnormal nerve conduction velocity Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Functional abnormality of the gastrointestinal tract Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Abnormality of peripheral nerve conduction Amaurosis fugax Gastroparesis Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Tongue thrusting Sparse hair High forehead Palmoplantar hyperkeratosis Deep philtrum Abnormality of the gastrointestinal tract Short attention span Woolly hair Thick upper lip vermilion Hyperextensible skin Abnormal hair pattern Dystrophic fingernails Thyroiditis Abnormality of the optic nerve Relative macrocephaly Abnormality of the testis Abnormality of vision Optic nerve hypoplasia Abnormality of the ulna Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Delayed CNS myelination Hemangioma Abnormality of refraction Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Sparse eyelashes Narrow palate Abnormality of the nail Deep palmar crease Gastrointestinal dysmotility Redundant skin Brittle hair Lymphedema Alopecia of scalp Neurofibromas Neurodevelopmental delay Multiple cafe-au-lait spots Aplasia/Hypoplasia of the eyebrow Biparietal narrowing Curly hair Hydroureter Generalized hyperpigmentation Malnutrition Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Open bite Poor appetite Large for gestational age Failure to thrive in infancy Abnormal eyelash morphology Absent eyebrow Arnold-Chiari type I malformation Obsessive-compulsive behavior Enlarged kidney Absent eyelashes Hypoplasia of the zygomatic bone Chronic otitis media Cubitus valgus Melanocytic nevus Pleural effusion Premature skin wrinkling Scaling skin Sparse eyebrow Hyperpigmentation of the skin Slow-growing hair Laryngeal cleft Hypermetropia Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Joint hypermobility Long face Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Abnormality of the cerebral white matter Full cheeks Dolichocephaly Nail dystrophy Leukemia Pectus carinatum Abnormal cardiac septum morphology Scarring Long palpebral fissure Respiratory tract infection Abnormality of the kidney Low-set, posteriorly rotated ears Telecanthus Hydronephrosis Coarse facial features Macrotia Palmoplantar keratoderma Generalized ichthyosis Thickened helices Low posterior hairline Subvalvular aortic stenosis Hyperextensibility of the finger joints Excessive wrinkled skin Abnormality of hair texture Cafe-au-lait spot Open mouth Cavernous hemangioma Multiple lentigines Sparse or absent eyelashes Inflammatory abnormality of the skin Increased nuchal translucency Endocarditis Frontal balding Fine hair Coarctation of aorta Hypoplasia of the frontal lobes Narrow forehead Progressive visual loss Anterior creases of earlobe Growth hormone deficiency Abnormality of the optic disc Abnormal tricuspid valve morphology Webbed neck Dental malocclusion Premature birth Intestinal malrotation Patchy alopecia Vesicoureteral reflux Optic nerve dysplasia Nevus Abnormality of immune system physiology Protruding ear Rhabdomyolysis Arthralgia of the hip Protein-losing enteropathy Hypercoagulability Thoracic kyphosis Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Pulmonary fibrosis Lymphopenia Intention tremor Difficulty walking Biliary tract obstruction Vascular calcification Abnormal platelet function Flank pain Abnormal thrombosis Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Edema of the lower limbs Bipolar affective disorder Gingival bleeding Pathologic fracture Osteomyelitis Leukocytosis Reduced bone mineral density Spastic paraparesis Astrocytosis Abnormality of ion homeostasis Hepatic fibrosis Hypocalcemia Aspiration pneumonia Epileptic spasms Limb hypertonia Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Hypokinesia Athetosis Akinesia Intracranial hemorrhage Hyperammonemia Hyperbilirubinemia Knee flexion contracture Elbow flexion contracture Abnormality of the acoustic reflex Progressive microcephaly Cholestasis Decreased fetal movement Abnormality of the skin Brain atrophy Pulmonary hypoplasia Hepatic failure Cough Elevated hepatic transaminase Hypoglycemia Flexion contracture Abnormal facial shape Sleep myoclonus Meningitis Osteoarthritis Hypomagnesemia Hypercholesterolemia Decreased number of large peripheral myelinated nerve fibers Impaired proprioception Head tremor Impaired smooth pursuit Progressive gait ataxia Urinary bladder sphincter dysfunction Cerebellar vermis atrophy Gaze-evoked nystagmus Sensory axonal neuropathy Decreased motor nerve conduction velocity Postural tremor Premature ovarian insufficiency Slurred speech Sensorimotor neuropathy Conjunctival telangiectasia Diplopia Limb ataxia Telangiectasia Choreoathetosis Abnormality of extrapyramidal motor function Peripheral demyelination Chorea Sensory neuropathy Distal sensory impairment Distal amyotrophy Abnormality of the foot Distal muscle weakness Babinski sign Saccadic smooth pursuit Pontocerebellar atrophy Parkinsonism Reticular hyperpigmentation Arthritis Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Abnormality of toe Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Corneal crystals Abnormal aortic morphology Elevated alpha-fetoprotein Foam cells Communicating hydrocephalus Mitral stenosis Aortic regurgitation Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis Mitral regurgitation Brachycephaly Impaired distal tactile sensation Chronic axonal neuropathy Diffuse cerebellar atrophy Impaired distal vibration sensation Fetal akinesia sequence Bulbar signs Hyperthyroidism Generalized hirsutism Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Easy fatigability Clonus Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Involuntary movements Hypertrichosis Atrial fibrillation Psychosis Status epilepticus Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Hyperkinesis Growth abnormality Pigmentary retinopathy Abnormality of neuronal migration Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Focal segmental glomerulosclerosis Chronic kidney disease Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Hypercalciuria Decreased nerve conduction velocity Atrioventricular block Generalized-onset seizure Cerebral calcification Trismus CSF pleocytosis Rod-cone dystrophy Cerebellar hypoplasia Visual loss Headache Renal insufficiency Myopathy Respiratory insufficiency Hyperreflexia Hypertension Pain Sensorineural hearing impairment EEG with temporal sharp waves Abnormal platelet aggregation Laryngeal stridor Diabetes mellitus Giant cell hepatitis Intestinal bleeding Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Hypoxemia Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Nonimmune hydrops fetalis Hypogonadism Weight loss Amenorrhea Confusion Specific learning disability Hip dysplasia Memory impairment Migraine Sudden cardiac death Abnormal cerebellum morphology Muscle cramps Postural instability Coma Nephropathy Hirsutism Polymicrogyria Vertigo Paresthesia Hypothyroidism Dysmetria Anal atresia Nausea and vomiting Carious teeth Congenital cataract Arthrogryposis multiplex congenita Stroke Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Abnormality of the pinna Anxiety Myalgia Photophobia Myocardial fibrosis



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