Cognitive impairment, and Mitral valve prolapse

Diseases related with Cognitive impairment and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Mitral valve prolapse that can help you solving undiagnosed cases.


Top matches:

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

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Other less relevant matches:

Medium match NIEMANN-PICK DISEASE, TYPE C1; NPC1


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Medium match MYOTONIC DYSTROPHY 1; DM1


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

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Medium match CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Medium match SHPRINTZEN-GOLDBERG SYNDROME


Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Mitral valve prolapse

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Generalized hypotonia Neonatal hypotonia Pectus excavatum High palate Strabismus Scoliosis Atrial septal defect Cataract Brachycephaly Downslanted palpebral fissures Frontal bossing Hypertelorism Short stature Stroke Anteverted nares Posteriorly rotated ears Hypertrophic cardiomyopathy Mitral regurgitation Low-set ears Ventriculomegaly Spasticity Gastroesophageal reflux Dysarthria Growth delay Dysphagia Intrauterine growth retardation Aplasia/Hypoplasia of the abdominal wall musculature

Rare Symptoms - Less than 30% cases


Feeding difficulties Dementia Abnormal pyramidal sign Anemia Hydrocephalus Elevated serum creatine phosphokinase Dystonia Aortic regurgitation Cerebellar atrophy Ophthalmoplegia Scapular winging Hemianopia Tremor Abnormal aortic valve morphology Hearing impairment Mental deterioration Ataxia Behavioral abnormality Depressivity Short neck Cleft palate Thin ribs Stroke-like episode Micrognathia Microcephaly Neurological speech impairment Anxiety Abnormality of the cerebral white matter Neurofibrillary tangles Peripheral neuropathy Hyperextensible skin Dysphonia Thick vermilion border Confusion Myopathy Pes planus Macrocephaly Cerebral atrophy Joint laxity Low-set, posteriorly rotated ears Protruding ear Feeding difficulties in infancy Arrhythmia Pectus carinatum Hypogonadism Joint hyperflexibility Abnormal facial shape Cerebral cortical atrophy Ascites High forehead Cerebral hemorrhage Intellectual disability, severe Absent speech Respiratory distress Cryptorchidism Ischemic stroke Muscle weakness Webbed neck Pulmonic stenosis Joint hypermobility Dolichocephaly Mandibular prognathia Craniosynostosis Polyhydramnios Patent ductus arteriosus Jaundice Smooth philtrum Poor speech Synophrys Thick eyebrow Prominent metopic ridge Hirsutism Long eyelashes Enlarged cisterna magna Proximal placement of thumb Hemihypertrophy Widely spaced teeth Limited elbow movement Semilobar holoprosencephaly Curly eyelashes Holoprosencephaly Low anterior hairline Skull asymmetry Decreased body weight Downturned corners of mouth Ventricular hypertrophy Narrow forehead Sensorineural hearing impairment Wide intermamillary distance Febrile seizures Esotropia Full cheeks Short foot Cutis marmorata Highly arched eyebrow Small hand Prominent nasal bridge Finger joint hypermobility Coloboma Round face Self-injurious behavior Chronic otitis media Premature ovarian insufficiency Relative macrocephaly Hyperkinesis Narrow face Sinusitis Hyperpigmentation of the skin Heterotopia Overgrowth Otitis media Postural instability Abnormality of neuronal migration Long face Facial asymmetry Attention deficit hyperactivity disorder Wide mouth Autistic behavior Intellectual disability, moderate Aggressive behavior Coarse facial features Macrotia Autism Hyperactivity Obesity Large hands Polyphagia Sparse hair Encopresis Respiratory tract infection Deeply set eye EEG abnormality Thin upper lip vermilion Recurrent respiratory infections Clinodactyly Brachydactyly Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Oppositional defiant disorder Minimal subcutaneous fat Periventricular gray matter heterotopia Abnormal head movements Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Macroorchidism Poor eye contact Broad palm Depressed nasal bridge Arterial tortuosity Wide nasal bridge Bifid uvula Joint contracture of the hand Wide anterior fontanel Amblyopia Bowing of the long bones Cranial asymmetry Abnormal form of the vertebral bodies Abnormality of the metaphysis Choanal atresia Blue sclerae Interphalangeal joint contracture of finger Dental malocclusion Intestinal malrotation Hypoplasia of the maxilla Infantile muscular hypotonia High, narrow palate Arachnodactyly Genu valgum Abnormality of the foot Narrow chest Camptodactyly of finger Joint stiffness Abnormality of the pinna Apnea Camptodactyly Telecanthus Conductive hearing impairment Narrow palate Arnold-Chiari malformation Retrognathia Arnold-Chiari type I malformation Gastroparesis Supernumerary ribs Lateral clavicle hook Dermal translucency Cloverleaf skull Spondylolisthesis Communicating hydrocephalus Missing ribs Genu recurvatum Microglossia Obstructive sleep apnea Shallow orbits Aortic root aneurysm Ectopia lentis Anteriorly placed anus Dislocated radial head Fragile skin Slender finger Abnormality of the sternum Atlantoaxial dislocation Abdominal wall muscle weakness Disproportionate tall stature Metatarsus adductus Hammertoe Elbow dislocation Metaphyseal widening Aortic aneurysm Umbilical hernia Osteopenia Intellectual disability, mild Subcutaneous nodule Decreased fertility External genital hypoplasia Bundle branch block Bilateral cryptorchidism Melanocytic nevus Abnormality of the voice Myelodysplasia Dural ectasia Melanoma Spina bifida occulta Cafe-au-lait spot Left ventricular hypertrophy Abnormality of the face Freckling Abnormality of the genital system Myocardial infarction Tetralogy of Fallot Specific learning disability Nevus Triangular face Delayed puberty Abnormality of the kidney Hyperkeratosis Delayed skeletal maturation Hypospadias Abnormality of cardiovascular system morphology Atrioventricular canal defect Multiple cafe-au-lait spots Proptosis Abnormal pulmonary valve morphology Prominent forehead Constipation Inguinal hernia Abnormal heart morphology Hernia Talipes equinovarus Abnormality of the skeletal system Myopia Failure to thrive Hallux varus Numerous nevi Hypoplasia of the ovary Abnormal endocardium morphology Neuroblastoma Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Shield chest Abnormal mitral valve morphology Redundant neck skin Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Abnormality of the ear Emotional lability Midface retrusion Spastic hemiparesis Developmental regression Abnormality of the nervous system Hepatosplenomegaly Myoclonus Pneumonia Thrombocytopenia Splenomegaly Gait disturbance Hyperreflexia Hepatomegaly Antenatal intracerebral hemorrhage Perivascular spaces Skin rash Schizencephaly Pontocerebellar atrophy Primitive reflex Porencephalic cyst Nuclear cataract Facial paralysis Transient ischemic attack Hypoplasia of the iris Posterior embryotoxon Restlessness Limb dystonia Visual field defect Paralysis Generalized tonic-clonic seizures Cortical dysplasia Progressive neurologic deterioration Vertical supranuclear gaze palsy Visceromegaly Foam cells Spastic dysarthria Supranuclear gaze palsy Head tremor Trismus Loss of speech Prolonged neonatal jaundice Athetosis Schizophrenia Clumsiness Intention tremor Abnormality of movement Psychosis Intellectual disability, profound Spastic tetraplegia Oligohydramnios Neuronal loss in central nervous system Chorea Tetraplegia Sleep disturbance Neurodegeneration Bruising susceptibility Cirrhosis Retinal degeneration Opisthotonus Dysphasia Supranuclear ophthalmoplegia Exertional dyspnea Cardiac myxoma Bacterial endocarditis Increased inflammatory response Orthopnea Endocarditis Pulmonary edema Edema of the lower limbs Subarachnoid hemorrhage Growth hormone excess Dilatation of the cerebral artery Thromboembolism Tricuspid regurgitation Epicanthus Heart murmur Easy fatigability Neoplasm of the skin Cholestasis Cardiomegaly Syncope Chest pain Coma Abnormality of skin pigmentation Headache Congestive heart failure Fever Pulmonic valve myxoma Ventricular septal defect Intracranial hemorrhage Cerebellar hypoplasia Hemiplegia Drooling Cerebral palsy Leukoencephalopathy Exotropia Hemiparesis Tetraparesis Muscle cramps Renal cyst Hematuria Hemolytic anemia Polymicrogyria Babinski sign Short nose Hypertonia Dysplastic pulmonary valve Atrial septal dilatation Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Scaphocephaly Cystic hygroma Pterygium Deep philtrum Leukemia Cataplexy Bone-marrow foam cells Homonymous hemianopia Respiratory insufficiency due to muscle weakness Generalized amyotrophy Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Sensory axonal neuropathy Mask-like facies Steppage gait Postural tremor Ophthalmoparesis EMG: myopathic abnormalities Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Abnormality of the periventricular white matter Muscle stiffness Limb ataxia Bradykinesia Parkinsonism Generalized muscle weakness Distal sensory impairment Peripheral axonal neuropathy Paresthesia Limb muscle weakness Dilated cardiomyopathy Distal muscle weakness Facial palsy Abnormal retinal morphology Mitochondrial myopathy Rigidity Neuritis Sensory ataxic neuropathy Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Impaired distal proprioception Stooped posture Optic neuritis Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Abnormality of the cerebrospinal fluid Abnormal nerve conduction velocity Weak voice Progressive external ophthalmoplegia Increased muscle fatiguability Positive Romberg sign Muscle fiber atrophy Hand muscle weakness Parkinsonism with favorable response to dopaminergic medication Cogwheel rigidity Gastrointestinal dysmotility Shuffling gait Action tremor Dyschromatopsia Progressive proximal muscle weakness Increased CSF protein Proximal muscle weakness Gait ataxia Rapid neurologic deterioration Myalgia Progressive muscle weakness Atrial fibrillation Decreased fetal movement Premature birth Brain atrophy Sensory neuropathy Tachycardia Unsteady gait Lower limb muscle weakness Talipes Muscular dystrophy Respiratory failure Insulin resistance Edema Skeletal muscle atrophy Motor delay Delayed speech and language development Pain Fatal liver failure in infancy Low cholesterol esterification rates Abnormal cholesterol homeostasis Foam cells in visceral organs and CNS Sea-blue histiocytosis Congenital thrombocytopenia Fetal ascites Hydrops fetalis Cardiac arrest Pes cavus First degree atrioventricular block Hyporeflexia Areflexia Cardiomyopathy Fatigue Optic atrophy Visual impairment Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Frontal balding Testicular atrophy Spontaneous abortion Atrial flutter Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Centrally nucleated skeletal muscle fibers Alzheimer disease Myotonia Cholelithiasis Atrioventricular block Ventricular tachycardia Intellectual disability, progressive C1-C2 vertebral abnormality



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