Anemia, and Atrial fibrillation

Diseases related with Anemia and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Anemia and Atrial fibrillation that can help you solving undiagnosed cases.


Top matches:

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

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Other less relevant matches:

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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 ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15


Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Cardiomyopathy
  • Abnormal heart morphology
  • Tachycardia
  • Atrial fibrillation
  • Supraventricular tachycardia


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match COUMARIN RESISTANCE


Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement (Yuan et al., 2005). The dose requirement is highly variable, both interindividually and interethnically.Variation in the VKORC1 gene is believed to be the most important individual predictor of warfarin dose, accounting for about 30% of the variance observed in dosing (Ross et al., 2010).

COUMARIN RESISTANCE Is also known as coumarin, poor metabolism of|warfarin resistance

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Atrial fibrillation
  • Abnormality of blood and blood-forming tissues
  • Deep venous thrombosis


SOURCES: OMIM MENDELIAN

More info about COUMARIN RESISTANCE

Low match ATRIAL SEPTAL DEFECT 6; ASD6


Related symptoms:

  • Atrial septal defect
  • Atrial fibrillation
  • Bradycardia


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 6; ASD6

Low match EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7


Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

Top 5 symptoms//phenotypes associated to Anemia and Atrial fibrillation

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Bradycardia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Atrial fibrillation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Anxiety Short stature Muscle weakness Depressivity Nausea Abnormality of the cardiovascular system Rhabdomyolysis Personality changes Atrioventricular block Vomiting Bundle branch block Left ventricular hypertrophy Congestive heart failure Dyspnea Paresthesia Generalized-onset seizure Diarrhea Elevated serum creatine phosphokinase Hepatomegaly Dilated cardiomyopathy Supraventricular tachycardia Hepatosplenomegaly Behavioral abnormality Fatigue Myopathy Dysarthria Areflexia Hypertension Dystonia

Rare Symptoms - Less than 30% cases


Optic atrophy Fever Atrial septal defect Respiratory insufficiency Renal insufficiency Headache Cataract Hearing impairment Failure to thrive Pain Sensorineural hearing impairment Respiratory distress Heart block Aortic regurgitation Mitral valve prolapse Abnormal heart morphology Abdominal pain Constipation Delayed puberty Hypothyroidism Anorexia Dysesthesia Abnormality of the renal tubule Tubulointerstitial nephritis Transient ischemic attack Xerostomia Glomerulopathy Progressive sensorineural hearing impairment Hemiplegia Chronic kidney disease Easy fatigability Ischemic stroke Purpura Exercise intolerance Ventricular hypertrophy Myalgia Nephrotic syndrome Sudden cardiac death Muscle cramps Nephropathy Tachycardia Vertigo Impaired temperature sensation Nausea and vomiting Malabsorption Pruritus Stroke Developmental regression Hypertrophic cardiomyopathy Proteinuria Intellectual disability Renal tubular dysfunction Gait disturbance Obsessive-compulsive behavior Muscular dystrophy Ichthyosis Dyskinesia Chorea Cardiac arrest Hallucinations Involuntary movements Memory impairment EMG abnormality Confusion Ventricular arrhythmia Abnormality of the cerebral white matter Mental deterioration Motor axonal neuropathy Hyperhidrosis Dementia Cerebral atrophy Hypertonia Dysphagia Acanthocytosis Tics Myoclonus Personality disorder Splenomegaly Skeletal muscle atrophy Abnormality of the common coagulation pathway Polyneuropathy Migraine Sensory impairment Generalized myoclonic seizures Abnormal cerebellum morphology Abnormality of the forehead Hyperkeratotic papule Postural instability Coma Tortuosity of conjunctival vessels Hirsutism Hip dysplasia Left ventricular septal hypertrophy Polymicrogyria Tenesmus Heavy proteinuria Lactic acidosis Acroparesthesia Peripheral axonal neuropathy Dysmetria Anal atresia Carious teeth Congenital cataract Increased serum lactate Specific learning disability Arthrogryposis multiplex congenita Hypertrichosis Clonus Cerebral visual impairment Abnormality of retinal pigmentation Decreased lacrimation Shortened PR interval Gingival overgrowth Coronary artery stenosis Concentric hypertrophic cardiomyopathy Mucosal telangiectasiae Decreased body weight Unexplained fevers Hemiparesis Abnormality of glycosphingolipid metabolism Psychosis Status epilepticus ST segment depression Functional abnormality of the gastrointestinal tract Pulmonary arterial hypertension Type II diabetes mellitus Bilateral sensorineural hearing impairment Pigmentary retinopathy Impaired renal concentrating ability Cerebral calcification Amenorrhea Ophthalmoplegia Generalized tonic-clonic seizures Lethargy Hyperreflexia Hyporeflexia Visual loss Encephalopathy Kyphosis Abnormality of the dentition Cerebellar atrophy Blindness Short neck Ventriculomegaly Tremor Motor delay Cerebellar hypoplasia Visual impairment Feeding difficulties Ptosis Muscular hypotonia Nystagmus Hypertelorism Growth delay Ataxia Microcephaly Global developmental delay Cornea verticillata Delayed skeletal maturation Rod-cone dystrophy Abnormal glomerular filtration rate EEG abnormality Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Abnormality of the liver Erythema Protruding ear Abnormal common carotid artery morphology Abnormality of the pinna Feeding difficulties in infancy Apnea Abnormal ST segment Truncal ataxia Osteoporosis Jaundice Gastroesophageal reflux Acidosis Autism Weight loss Increased carotid artery intimal medial thickness Increased glomerular filtration rate Gait ataxia Cerebral cortical atrophy Diabetes mellitus Hypogonadism Photophobia Generalized limb muscle atrophy Generalized hirsutism Motor polyneuropathy Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Episodic vomiting Abnormality of the cerebellar vermis Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Psychotic episodes Crohn's disease Increased CSF lactate Bilateral intracranial calcifications Neck muscle weakness Progressive muscle weakness Proximal muscle weakness Flexion contracture Deep venous thrombosis Abnormality of blood and blood-forming tissues Abnormality of metabolism/homeostasis Neoplasm Atrial flutter Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Episodic quadriplegia Hemeralopia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Wolff-Parkinson-White syndrome Visual hallucinations Hypogonadotrophic hypogonadism Decreased nerve conduction velocity Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hypercalciuria Cachexia Overlapping toe Growth abnormality Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ragged-red muscle fibers Shortened QT interval Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Type I diabetes mellitus Abnormality of neuronal migration Adrenal insufficiency Aortic dissection Drowsiness Facial diplegia Cardiorespiratory arrest Delusions Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Aphasia Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Angiokeratoma corporis diffusum Vascular skin abnormality Hyposthenuria Anomalous pulmonary venous return Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Hematemesis Total anomalous pulmonary venous return Phocomelia Complete atrioventricular canal defect Patellar subluxation Ecchymosis Allergy Secundum atrial septal defect Down-sloping shoulders Truncus arteriosus Sleep apnea Short clavicles Thoracic scoliosis Absent radius Oligodactyly Short humerus Atrioventricular canal defect Lactose intolerance Quadricuspid aortic valve Limited elbow extension Coarse facial features Papule Corneal opacity Prominent nasal bridge Cough Skin rash Rigidity Abnormality of the kidney Elevated hepatic transaminase Abnormality of the nervous system Arthritis Carcinoma Arthralgia Sensorimotor neuropathy Mandibular prognathia Abnormality of movement Hyperkeratosis Lower limb muscle weakness Posteriorly rotated ears Midface retrusion Dilatation Hemolytic anemia Sensory neuropathy Edema Parkinsonism Neuronal loss in central nervous system Absent thumb Petechiae Stage 5 chronic kidney disease Excessive salivation Thrombocytopenia Abnormality of cardiovascular system morphology Syndactyly Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Ventricular septal defect Abnormality of the skeletal system Frontal bossing Orofacial dyskinesia Depressed nasal bridge Clinodactyly Cleft palate Micrognathia Hyporeflexia of lower limbs Increased muscle fatiguability Abnormality of the astrocytes Hyporeflexia of upper limbs Abnormal facial expression Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Pectus excavatum Patent ductus arteriosus Hypoplastic left heart Aortic valve stenosis Right bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Emotional lability Hypoplasia of the radius Eosinophilia Ventricular fibrillation Finger clinodactyly Horseshoe kidney Sensory axonal neuropathy Restlessness Abnormal vertebral morphology Short thumb Epistaxis Coarctation of aorta Bowel incontinence Impaired vibration sensation in the lower limbs Gastrointestinal hemorrhage Asthma Bruising susceptibility Impaired pain sensation Abnormal cardiac septum morphology Polydactyly Babinski sign Bulbous nose Obstructive lung disease Achalasia Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Chronic obstructive pulmonary disease Abnormal aortic valve morphology Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Pneumonia Edema of the lower limbs Gastrointestinal dysmotility T-wave inversion Abnormality of lipid metabolism Abnormal social behavior Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Decreased female libido Miosis Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormal cornea morphology Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Abnormal EKG Aortic root aneurysm Thick eyebrow Abnormal lung morphology Ventricular tachycardia Hyperlipidemia Abnormality of the musculature Aminoaciduria Aspiration pneumonia Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Lymphedema Hypohidrosis Subcutaneous nodule Mitral regurgitation Progressive hearing impairment Palpitations Myocardial infarction Thick lower lip vermilion Hypotension Urinary incontinence Syncope Chest pain Abdominal distention Abetalipoproteinemia Phonic tics Hematuria Thick vermilion border Abnormal intestine morphology Corneal dystrophy Wheezing Anhidrosis Renal tubular acidosis Glycosuria Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Orthostatic hypotension Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Loss of consciousness Emphysema Polyuria Reduced bone mineral density Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Polydipsia Glomerulosclerosis Cardiomegaly Abnormality of the hand Prominent supraorbital ridges Aspiration Tinnitus Proximal amyotrophy



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