Congestive heart failure, and Paraplegia

Diseases related with Congestive heart failure and Paraplegia

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

Top matches:

Medium match ATTRV30M AMYLOIDOSIS

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Other less relevant matches:

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W

Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).

ATRIAL STANDSTILL 2; ATRST2 Is also known as cardiomyopathy, atrial dilated, with atrial standstill|atrial dilation and standstill

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Scarring
  • Stroke


SOURCES: OMIM MENDELIAN

More info about ATRIAL STANDSTILL 2; ATRST2

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

Low match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

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

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Scoliosis Spasticity Spastic paraparesis Ataxia Cognitive impairment Short stature Protuberant abdomen Reduced bone mineral density Palpitations Dilated cardiomyopathy Kyphosis Growth delay Seizures Abnormality of eye movement Failure to thrive Flexion contracture Tachycardia Hepatomegaly Dysphagia Talipes equinovarus Proximal muscle weakness Splenomegaly Hepatosplenomegaly Depressivity Osteopenia Constipation Visual impairment Dementia Dyspnea Headache Hearing impairment Nystagmus

Rare Symptoms - Less than 30% cases

Progressive neurologic deterioration Ventricular hypertrophy Corneal opacity Exercise intolerance Elevated hepatic transaminase Muscle stiffness Bradycardia Insulin resistance Long eyelashes Macroglossia Atrial fibrillation Generalized muscle weakness Decreased body weight Neonatal hypotonia Hirsutism Ventricular arrhythmia Skeletal muscle atrophy Abnormality of skin pigmentation Abnormal bleeding Syncope Muscular dystrophy Glaucoma Abnormality of the cardiovascular system Joint stiffness Thoracic scoliosis Progressive proximal muscle weakness Prominent supraorbital ridges Ketosis Neurodegeneration Inability to walk Reduced systolic function Abnormal pyramidal sign Pallor Kyphoscoliosis Pes cavus Visual loss Macrocephaly Stroke Fatigue Diabetes mellitus Left ventricular hypertrophy Generalized myoclonic seizures Tetraplegia Recurrent respiratory infections Retinopathy Hypertrophic cardiomyopathy Babinski sign Dystonia Optic atrophy Motor delay Abdominal pain Ptosis Atlantoaxial dislocation Mitral regurgitation Myoclonus Osteoporosis Sensorineural hearing impairment Cachexia Pain Multiple myeloma Arthritis Hydrocephalus Paraparesis Peripheral neuropathy Hemiparesis Cardiomegaly Dysarthria Intellectual disability Peripheral demyelination Generalized hypotonia Feeding difficulties Hypertension Abnormality of the skeletal system Myelopathy Constrictive median neuropathy Myopathy Areflexia Peripheral axonal neuropathy Elevated serum creatine phosphokinase Delayed skeletal maturation Inguinal hernia Pneumonia Prominent forehead Proptosis Bullet-shaped phalanges of the hand Hernia Long philtrum Anteverted nares Behavioral abnormality Muscular hypotonia Lymphangioma Upper limb asymmetry Neoplasm of the thyroid gland Hypertelorism Micrognathia Abnormal facial shape Delayed speech and language development Abnormality of the dentition Depressed nasal bridge Wide nasal bridge Frontal bossing Short neck Respiratory insufficiency Edema Skeletal dysplasia Craniosynostosis Coarse facial features Retinal degeneration Abnormality of the skin Limitation of joint mobility Asthma Full cheeks Deformed humerus Broad nasal tip Enlarged vertebral pedicles Delayed eruption of teeth Sleep disturbance Everted lower lip vermilion High, narrow palate Thick vermilion border Wide nose Thick eyebrow Dry skin Umbilical hernia Proximal tapering of metacarpals Genu valgum Synophrys Carious teeth Dolichocephaly Severe global developmental delay Pectus carinatum Nyctalopia Camptodactyly of finger Excessive wrinkled skin Wide mouth Mental deterioration Apnea Conductive hearing impairment Neoplasm of the breast Talipes Visceral angiomatosis Flank pain Abnormality of premolar morphology Telangiectasia of the skin Abnormal mandibular ramus 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 Abnormality of bone marrow cell morphology Varicose veins Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Nevus flammeus Vascular skin abnormality Venous insufficiency Atrial arrhythmia Lower limb asymmetry Arteriovenous malformation Ovarian neoplasm Hamartoma Hemiplegia/hemiparesis Subcutaneous nodule Recurrent fractures Progressive visual loss Papule Broad long bone diaphyses Atrial cardiomyopathy Hyperpepsinogenemia I Dilatation of the ventricular cavity Atrial standstill Abnormality of the wing of the ilium Peripheral arteriovenous fistula Increased size of nasopharyngeal adenoids Scarring Triangular tongue Increased connective tissue Calf muscle hypertrophy Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Limb-girdle muscular dystrophy Progressive muscle weakness Tetraparesis Stiff interphalangeal joints Abnormal mandible coronoid process morphology Hypertrophy of the upper limb Hypertrophy of the lower limb Hip dysplasia Interphalangeal joint contracture of finger Thick skull base Beaking of vertebral bodies Urinary glycosaminoglycan excretion Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Large earlobe Short mandibular rami Hypoplasia of teeth Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Cervical kyphosis Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Peripheral visual field loss Palpebral edema Abnormal aortic valve morphology Sagittal craniosynostosis Short clavicles Abnormal hand morphology Prominent sternum Abnormality of the gingiva Hip subluxation Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Heparan sulfate excretion in urine Mucopolysacchariduria Abnormality of peripheral nerve conduction Hernia of the abdominal wall Rhinorrhea Broad femoral neck Delayed ossification of carpal bones Diaphyseal thickening Abnormal diaphysis morphology Recurrent ear infections Retinal fold Enlargement of the wrists Thoracolumbar kyphoscoliosis Calvarial hyperostosis Chronic rhinitis Cervical myelopathy Abnormality of the middle ear ossicles Biconcave vertebral bodies Hypoplasia of the odontoid process Protruding tongue Microdontia Chronic diarrhea Cerebral palsy Aortic regurgitation Coxa vara Mandibular condyle hypoplasia Opacification of the corneal stroma Abnormality of dental enamel Coxa valga Generalized hirsutism Elbow flexion contracture Abnormal vertebral morphology Exotropia Gingival overgrowth Abnormality of epiphysis morphology Thickened skin Encephalocele Progressive hearing impairment Abnormality of lysosomal metabolism Abnormal form of the vertebral bodies Split hand Flaring of rib cage Recurrent otitis media Hypertrichosis Myocardial infarction J-shaped sella turcica Broad ischia Intellectual disability, profound Lumbar hyperlordosis Abnormality of joint mobility Delayed tarsal ossification Abnormality of the ribs Widely spaced teeth Corneal dystrophy Rhinitis Multiple joint contractures Spinal canal stenosis Arthropathy Thickened calvaria Abnormal CNS myelination Abnormal heart valve morphology Lumbar kyphosis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Restrictive ventilatory defect Hypoplasia of the femoral head Coronary artery atherosclerosis Flared metaphysis Calcification of falx cerebri Abnormality of the tonsils Sleep apnea Hemiplegia Hyperammonemia Cervical subluxation Increased intracranial pressure Recurrent upper respiratory tract infections Back pain Hypoplastic cervical vertebrae Language impairment Gingival bleeding Enlarged tonsils Stridor Heart murmur C1-C2 subluxation Toe walking Metatarsus adductus Hepatocellular carcinoma Atrophic superior cerebellar peduncle Aseptic necrosis Secondary amenorrhea Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Abnormal levels of creatine kinase in blood Fasting hyperinsulinemia Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia IgA deficiency Lipoatrophy Prominent umbilicus Spinal rigidity Reduced subcutaneous adipose tissue Prolonged QT interval Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Failure to thrive in infancy Lipodystrophy Hyperinsulinemia Pyloric stenosis Polycystic ovaries Delayed gross motor development Abnormality of upper lip Generalized muscle hypertrophy Pancreatitis Pigmentary retinopathy Hemolytic-uremic syndrome Paraganglioma Left ventricular noncompaction Ketonuria Preeclampsia Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Congenital hip dislocation Leukodystrophy Spastic tetraplegia Increased serum lactate Cervical spine instability Lactic acidosis Ophthalmoplegia Respiratory tract infection Developmental regression Acidosis Respiratory failure Absent speech Hypertonia Blindness Hyperreflexia Microcephaly Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Ventricular tachycardia Atherosclerosis Progressive leukoencephalopathy Hypotension Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Atrioventricular block Abnormal autonomic nervous system physiology Vasculitis Hallucinations Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Migraine Syringomyelia Urinary incontinence Gliosis Coma Polyneuropathy Nephropathy Paresthesia Malabsorption Facial palsy Weight loss Hyporeflexia Renal insufficiency Tremor Fever Amyloidosis Increased CSF protein Hyperlipidemia Postnatal growth retardation Acanthosis nigricans Accelerated skeletal maturation Recurrent bacterial infections Pointed chin Sparse and thin eyebrow Thin skin Hypertriglyceridemia Epidermal acanthosis Growth hormone deficiency Sudden cardiac death Hepatic steatosis Spastic paraplegia Distal muscle weakness Protruding ear Hyperlordosis Restrictive cardiomyopathy Myalgia Rigidity Hypothyroidism Recurrent infections Dilatation Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Stroke-like episode Increased intramyocellular lipid droplets Decreased activity of mitochondrial complex II Exertional dyspnea Palmar hyperhidrosis Lymphadenopathy Delayed puberty Neurological speech impairment Abnormality of the eye Proteinuria EEG abnormality Thrombocytopenia Myopia Anemia Strabismus Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Temporal optic disc pallor Bruising susceptibility Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Cirrhosis Hematuria Sinus tachycardia Leukopenia Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Oculomotor apraxia Ascites Osteolysis Meningitis Increased bone mineral density Bone pain Hepatic fibrosis Anorexia Osteoarthritis Epistaxis Pulmonary arterial hypertension Pancytopenia Apraxia Cyanosis Parkinsonism Abdominal distention Hand muscle atrophy Abnormal saccadic eye movements Abnormal mitochondria in muscle tissue Dysmetria Lower limb spasticity Involuntary movements Clumsiness Intention tremor Optic disc pallor Sensory impairment Chorea Chest pain Progressive cerebellar ataxia Abnormal cerebellum morphology Sensory neuropathy Falls Vertigo Unsteady gait Lower limb muscle weakness Spastic gait Abnormality of movement Abnormality of the foot Limb muscle weakness Difficulty walking Pes planus Reduced visual acuity Gait ataxia Cerebral cortical atrophy Hyperactivity Cerebellar atrophy Respiratory distress Gait disturbance Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Limb ataxia Truncal ataxia Abnormality of cardiovascular system physiology Ketoacidosis Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Urinary bladder sphincter dysfunction Reduced tendon reflexes Heart block Abnormality of visual evoked potentials Abnormal EKG Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dysdiadochokinesis Incoordination Slurred speech Delayed ossification of the hand bones


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Retinopathy, related diseases and genetic alterations Hepatomegaly and Motor delay, related diseases and genetic alterations