Cataract, and Syncope

Diseases related with Cataract and Syncope

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


Top matches:

Low match HYPERGLYCINURIA

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate urolithiasis, glycinuria with or without oxalate nephrolithiasis, iminoglycinuria type ii

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia


SOURCES: OMIM MESH MONDO UMLS

More info about HYPERGLYCINURIA

Low 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 3q.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica


SOURCES: GARD UMLS OMIM DOID NCIT ORPHANET MONDO

More info about MYOTONIC DYSTROPHY 1; DM1

Low match LOEYS-DIETZ SYNDROME 5; LDS5

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome;rnhf

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: GARD MONDO OMIM EFO UMLS

More info about LOEYS-DIETZ SYNDROME 5; LDS5

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Other less relevant matches:

Low match CATARACT 36; CTRCT36

CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4;catc4

Related symptoms:

  • Autosomal recessive inheritance
  • Cataract


SOURCES: UMLS OMIM MONDO DOID

More info about CATARACT 36; CTRCT36

Low match LONG QT SYNDROME 11; LQT11

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).

Related symptoms:

  • Autosomal dominant inheritance
  • Syncope
  • Prolonged QT interval


SOURCES: MONDO MESH GARD UMLS OMIM DOID

More info about LONG QT SYNDROME 11; LQT11

Low match SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD

Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.

SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Hearing impairment
  • Syncope
  • Bradycardia
  • Vestibular dysfunction


SOURCES: MONDO ORPHANET OMIM UMLS

More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS; SANDD

Low match MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Pica
  • Ataxia
  • Ptosis


SOURCES: MONDO ORPHANET OMIM

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Low match TENORIO SYNDROME; TNORS

Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO UMLS OMIM

More info about TENORIO SYNDROME; TNORS

Low match SCHEIE SYNDROME

The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function.Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; {607014}), Hurler-Scheie (MPS IH/S; {607015}), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972).

SCHEIE SYNDROME Is also known as mucopolysaccharidosis type is;mps1-s, mucopolysaccharidosis type v, formerly, mps v, formerly;mps5, formerly;mps1s; mpsis; mucopolysaccharidosis type 1s; mucopolysaccharidosis type is

Related symptoms:

  • Autosomal recessive inheritance
  • Sensorineural hearing impairment
  • Depressed nasal bridge
  • Visual impairment
  • Hepatomegaly


SOURCES: OMIM ORPHANET

More info about SCHEIE SYNDROME

Low match VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1

Ventricular fibrillation (VF) is said to cause more than 300,000 sudden deaths each year in the US alone. In approximately 5 to 12% of cases, there are no demonstrable cardiac or noncardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF). Patients with a distinct form of VF called Brugada syndrome (see {601144}) present with a characteristic electrocardiographic pattern, with right bundle branch block (RBBB) and elevation of ST segment in leads V1 to V3 and may account for 40 to 60% of all IVF cases (review by Chen et al., 1998). Mutations in the SCN5A gene were identified in patients with Brugada syndrome-1 (OMIM ). Genetic Heterogeneity of Paroxysmal Familial Ventricular FibrillationAnother familial form of VF (VF2 ) is caused by mutation in the DPP6 gene (OMIM ) on chromosome 7q26.

VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1 Is also known as vf, ivf;familial paroxysmal ventricular fibrillation, non brugada type

Related symptoms:

  • Arrhythmia
  • Sudden cardiac death
  • Syncope
  • Ventricular fibrillation


SOURCES: OMIM UMLS ORPHANET

More info about VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1; VF1

Top 5 symptoms//phenotypes associated to Cataract and Syncope

Symptoms // Phenotype % cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Pica Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Syncope. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Rare Symptoms - Less than 30% cases


Dilatation Skeletal muscle atrophy Mitral valve prolapse Hydrocephalus Raynaud phenomenon Arrhythmia Aortic regurgitation Mask-like facies Neonatal hypotonia Cerebral cortical atrophy Cerebral palsy Pain Apnea Atrioventricular block Wide nose Stridor Overgrowth Mandibular prognathia Delayed speech and language development Spondylolisthesis Tachycardia Intellectual disability Scoliosis Motor delay Muscular hypotonia Broad face Milia Cognitive impairment Impotence Postural tremor Urinary urgency Hypohidrosis Limb ataxia Bowel incontinence Resting tremor Frequent falls Abnormal rapid eye movement sleep Orthostatic hypotension Central sleep apnea Abnormal brain FDG positron emission tomography Orofacial dyskinesia Anhidrosis Orthostatic hypotension due to autonomic dysfunction Axial dystonia Gaze-evoked nystagmus Olivopontocerebellar atrophy Cogwheel rigidity Iris atrophy Abnormality of extrapyramidal motor function Adult onset Peripheral demyelination Gait ataxia Increased arm span Prolonged QT interval Hearing impairment Bradycardia Vestibular dysfunction Ataxia Dysarthria Hyperreflexia Tremor Cerebellar atrophy Babinski sign Constipation Progressive Hyperhidrosis Neurodegeneration Rigidity Sporadic Abnormal pyramidal sign Pallor Autonomic bladder dysfunction Gliosis Small hand Parkinsonism Postural instability Neuronal loss in central nervous system Urinary incontinence Bradykinesia Progressive cerebellar ataxia Hypotension Nocturia Gastroesophageal reflux Civatte bodies Full cheeks Coma Pes cavus Glaucoma Coarse facial features Skeletal dysplasia Joint stiffness Wide mouth Retinal degeneration Corneal opacity Genu valgum Everted lower lip vermilion Limitation of joint mobility Thick vermilion border Aortic valve stenosis Splenomegaly Situs inversus totalis Meningitis Spastic paraparesis Sleep apnea Rhinitis Dysostosis multiplex Obstructive sleep apnea Spinal cord compression Mitral stenosis Mucopolysacchariduria Constrictive median neuropathy Abnormal nerve conduction velocity Tricuspid atresia Sudden cardiac death Abnormality of the skeletal system Short neck Camptocormia Anxiety Autonomic erectile dysfunction Orthostatic syncope Female anorgasmia Macrocephaly Anteverted nares Ventriculomegaly Gait disturbance Pneumonia Oxycephaly Osteopenia Cervical spine instability Hypoglycemia Telecanthus Thick eyebrow Hepatomegaly Macroglossia Hypertrichosis Clumsiness Conjunctivitis Delayed cranial suture closure Keratitis Keratoconjunctivitis sicca Large forehead Recurrent aphthous stomatitis Stomatitis Hypoinsulinemia Sensorineural hearing impairment Depressed nasal bridge Visual impairment Bilateral coxa valga Reduced subcutaneous adipose tissue Arterial dissection Cholelithiasis Sensory neuropathy Premature birth Brain atrophy Spontaneous abortion Decreased fetal movement Insulin resistance Intellectual disability, progressive EMG abnormality Atrial fibrillation Progressive muscle weakness Hydrops fetalis Cardiac arrest Ventricular tachycardia Non-midline cleft lip Unsteady gait Myotonia Alzheimer disease Centrally nucleated skeletal muscle fibers Thin ribs Neurofibrillary tangles Facial diplegia Heart block Abnormality of the endocrine system Nonimmune hydrops fetalis Abnormal hair quantity Abnormal EKG Abnormality of the upper urinary tract Atrial flutter Stroke Talipes Personality disorder Intellectual disability, severe Hypertension Microphthalmia Nephrolithiasis Hyperglycinuria Calcium oxalate nephrolithiasis Paroxysmal tachycardia Strabismus Cryptorchidism Muscle weakness Myopathy Nevus Peripheral neuropathy Edema Dysphagia Lower limb muscle weakness Hypertonia Abnormality of cardiovascular system morphology Cerebral atrophy Respiratory distress Polyhydramnios Dementia Hypogonadism Respiratory failure Feeding difficulties in infancy Facial palsy Myalgia Mental deterioration Hip dislocation Muscular dystrophy Testicular atrophy Frontal balding Ascending aortic dissection Patent foramen ovale Smooth philtrum Abnormality of the foot Long face Arachnodactyly Joint hypermobility Bruising susceptibility Bifid uvula Blue sclerae Tall stature Mitral regurgitation Joint contracture of the hand Exotropia Osteoarthritis Aortic aneurysm Autoimmunity Ectopia lentis Cerebral hemorrhage Decreased muscle mass Long palpebral fissure Abnormality of the sternum Aortic dissection Aortic root aneurysm Soft skin Hiatus hernia Celiac disease Cleft soft palate Graves disease Arterial tortuosity Abnormal cardiac septum morphology Dolichocephaly Percussion myotonia Downslanted palpebral fissures Narcolepsy Hernia of the abdominal wall Excessive daytime sleepiness Obsessive-compulsive trait First degree atrioventricular block Ring fibers Ventouse delivery Short stature Hypertelorism Growth delay Cleft palate Flexion contracture High palate Ventricular septal defect Arthrogryposis multiplex congenita Talipes equinovarus Pectus excavatum Inguinal hernia Midface retrusion Hyporeflexia Hernia Brachycephaly Retrognathia Proptosis Arthritis Pes planus Kyphoscoliosis Pectus carinatum Small for gestational age Ventricular fibrillation



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