Intellectual disability, and Atrial fibrillation

Diseases related with Intellectual disability and Atrial fibrillation

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

Top matches:

SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Top 5 symptoms//phenotypes associated to Intellectual disability and Atrial fibrillation

Symptoms // Phenotype % cases
Myopathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Atrioventricular block Muscular dystrophy Palpitations Cardiomyopathy Skeletal muscle atrophy Muscle weakness Flexion contracture Gait disturbance Limb muscle weakness Proximal muscle weakness Lower limb muscle weakness Myotonia Pectus excavatum Hypertrophic cardiomyopathy EMG: myopathic abnormalities Muscular hypotonia Lipodystrophy Waddling gait Respiratory insufficiency due to muscle weakness Elevated serum creatine phosphokinase Sudden cardiac death Back pain Proximal upper limb amyotrophy Scapular winging Elbow flexion contracture Ventricular escape rhythm Proximal muscle weakness in upper limbs Tachycardia Proximal lower limb amyotrophy Hypertriglyceridemia Increased LDL cholesterol concentration Supraventricular arrhythmia Achilles tendon contracture Proximal muscle weakness in lower limbs Ichthyosis Limb-girdle muscle weakness Ankle contracture Joint stiffness Sprengel anomaly Rimmed vacuoles Spinal rigidity Toe walking Hyperlordosis Limb-girdle muscular dystrophy Obesity Kyphosis Type 1 muscle fiber atrophy Restricted neck movement due to contractures Reduced tendon reflexes Ventricular tachycardia Vertigo Mitral valve prolapse Bradycardia Cardiac arrest Progressive muscle weakness Global developmental delay Neonatal hypotonia Generalized hypotonia Absent muscle fiber emerin Cardiomegaly High palate Decreased cervical spine flexion due to contractures of posterior cervical muscles Respiratory insufficiency Pain

Rare Symptoms - Less than 30% cases

Pes cavus Spontaneous abortion Heart block Cryptorchidism Hypogonadism Osteopenia Cognitive impairment Hypertension Dysphagia Respiratory failure Peroneal muscle weakness Decreased fetal movement Insulin resistance Centrally nucleated skeletal muscle fibers Facial palsy Peroneal muscle atrophy Distal lower limb muscle weakness Ventricular arrhythmia Reduced ejection fraction Mental deterioration Pelvic girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Lumbar hyperlordosis Wide nasal bridge Congenital muscular dystrophy Shoulder girdle muscle weakness Respiratory distress Shoulder girdle muscle atrophy Limb-girdle muscle atrophy Feeding difficulties Pelvic girdle muscle atrophy Generalized amyotrophy Sinus bradycardia Syncope Growth delay Short stature Multiple joint contractures Dyspnea Joint laxity Fatigue Aortic regurgitation Long face Chest pain Atrial flutter Mitral regurgitation Convex nasal ridge Seizures Ventricular hypertrophy Left ventricular hypertrophy Micrognathia Testicular dysgenesis Delayed speech and language development Primary testicular failure Peripheral neuropathy Poikiloderma Abnormality of the testis Puberty and gonadal disorders Motor delay Sparse pubic hair Cataract Down-sloping shoulders Elevated circulating follicle stimulating hormone level Sclerodactyly Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Elevated circulating luteinizing hormone level Poor wound healing Wide nasal base Myofiber disarray Abnormality of the ovary Bilateral cryptorchidism Short clavicles Abnormality of the skin Abnormality of the skeletal system Intellectual disability, mild Osteoporosis Ventricular extrasystoles Micropenis Ventricular fibrillation Retrognathia Microtia Delayed puberty Arachnodactyly Wide nose Full cheeks Amenorrhea Thoracic scoliosis Abnormality of the genital system Telangiectasia Increased bone mineral density Hypergonadotropic hypogonadism Short chin Polycystic ovaries Precocious puberty Bilateral ptosis Premature ovarian insufficiency Tricuspid regurgitation Intellectual disability, severe Scleroderma Secondary amenorrhea Edema Short neck Cerebral atrophy Hyperinsulinemia Failure to thrive Areflexia Diabetes mellitus Muscular hypotonia of the trunk Ophthalmoplegia Hirsutism Generalized muscle weakness Clumsiness Narrow face Congenital hip dislocation Infantile muscular hypotonia Hyperglycemia Percussion myotonia Glucose intolerance Bulbar palsy Glycosuria Weak cry Difficulty running Insulin-resistant diabetes mellitus Nemaline bodies Limb joint contracture Abnormal glucose tolerance Spinal deformities Postprandial hyperglycemia Ring fibers Obsessive-compulsive trait Dilatation Hydrops fetalis Dementia Cerebral cortical atrophy Polyhydramnios Proximal spinal muscular atrophy Feeding difficulties in infancy Stroke Talipes Unsteady gait Sensory neuropathy Brain atrophy Premature birth Abnormality of cardiovascular system morphology Narcolepsy Intellectual disability, progressive Cholelithiasis Alzheimer disease Thin ribs Neurofibrillary tangles Abnormal EKG Facial diplegia Nonimmune hydrops fetalis Testicular atrophy First degree atrioventricular block Frontal balding Excessive daytime sleepiness Myalgia Difficulty climbing stairs Scapuloperoneal amyotrophy Abnormality of the liver Atrial septal defect Hepatomegaly Myopia Depressivity Visual loss Sclerotic vertebral endplates Hyperactivity Reduced visual acuity Contractures of the large joints Abnormality of the eye Venous insufficiency Scarring Long philtrum Retinopathy Distal amyotrophy Distal sensory impairment Progressive visual loss Pigmentary retinopathy Psychosis Decreased liver function Exercise intolerance Hyperlipidemia Abnormality of the thumb Cone/cone-rod dystrophy Macroorchidism Visual impairment Posteriorly rotated ears Neurodevelopmental delay Abnormal heart valve morphology Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Exertional dyspnea Mastoiditis Asthenia Tricuspid valve prolapse Endocarditis Supraventricular tachycardia Thromboembolism Striae distensae Disproportionate tall stature Upslanted palpebral fissure Dental crowding Abnormality of the cardiovascular system Limb undergrowth Small hand Tip-toe gait High, narrow palate Pulmonic stenosis Broad forehead Short philtrum Intellectual disability, moderate Thin upper lip vermilion Weakness of facial musculature Abnormal electroretinogram Brachydactyly Left anterior fascicular block Spasticity Increased connective tissue Hyporeflexia of lower limbs Tetraplegia Kyphoscoliosis Permanent atrial fibrillation Macrotia Absent speech Hydrocephalus Midface retrusion Difficulty walking Rigidity Falls Spastic tetraplegia Myocardial infarction Frequent falls Sick sinus syndrome Knee flexion contracture Spinal muscular atrophy Calf muscle hypertrophy Mildly elevated creatine phosphokinase Ventriculomegaly Left ventricular noncompaction Progressive proximal muscle weakness Abnormal atrioventricular conduction Atrial arrhythmia Decreased HDL cholesterol concentration Progeroid facial appearance Abnormal retinal morphology Impaired myocardial contractility Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Wolff-Parkinson-White syndrome Myocardial fibrosis Myofibrillar myopathy Skeletal myopathy Autophagic vacuoles Muscle flaccidity Retinal pigment epithelial mottling Exercise-induced muscle cramps Ventricular preexcitation Restrictive ventilatory defect Myocardial necrosis Left ventricular systolic dysfunction Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Glycogen accumulation in muscle fiber lysosomes Abnormal facial shape Paresthesia Aortic valve stenosis Abnormal lung morphology Diplopia Intellectual disability, profound Type 1 fibers relatively smaller than type 2 fibers


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Paralysis, related diseases and genetic alterations Ventricular septal defect and Hydronephrosis, related diseases and genetic alterations Lymphoma and Patent ductus arteriosus, related diseases and genetic alterations Flexion contracture and Constipation, related diseases and genetic alterations Scoliosis and Photophobia, related diseases and genetic alterations Muscular hypotonia and Retrognathia, related diseases and genetic alterations