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 nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

Low match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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Other less relevant matches:

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:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low match CATARACT 36; CTRCT36


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

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS


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.

Related symptoms:

  • Hearing impairment
  • Syncope
  • Bradycardia
  • Vestibular dysfunction
  • Abnormal atrioventricular conduction


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINOATRIAL NODE DYSFUNCTION AND DEAFNESS

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 (GCIs) 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:

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: MESH ORPHANET OMIM MENDELIAN

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

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2


Related symptoms:

  • Pain
  • Cardiomyopathy
  • Dyspnea
  • Hypertrophic cardiomyopathy
  • Chest pain


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2

Top 5 symptoms//phenotypes associated to Cataract and Syncope

Symptoms // Phenotype % cases
Dyspnea Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Atrioventricular block Uncommon - Between 30% and 50% cases
Ventricular tachycardia 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


Palpitations Ventricular hypertrophy Sudden cardiac death Hypertrophic cardiomyopathy Constipation Arrhythmia Dilatation Congestive heart failure Cardiomyopathy Seizures Tachycardia Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Hearing impairment Headache Papule Cough Bradycardia Abnormal autonomic nervous system physiology Anhidrosis Arthritis Hypothyroidism Renal insufficiency Subcutaneous nodule Edema Fatigue Impotence Skeletal muscle atrophy Fever Orthostatic hypotension Anemia Restrictive cardiomyopathy Abnormal lung morphology Anorexia Aortic root aneurysm Midface retrusion Cognitive impairment Aortic regurgitation Mitral regurgitation Hyperhidrosis Urinary incontinence Hypotension Mitral valve prolapse Left ventricular hypertrophy Ptosis Diabetes insipidus Bundle branch block Short stature Abnormality of the gastrointestinal tract Hypohidrosis Tubulointerstitial nephritis Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Emphysema Heart block Celiac disease Vertigo Scoliosis Myocardial infarction Respiratory insufficiency Atrial fibrillation Flexion contracture Myalgia Tricuspid regurgitation Diarrhea Paresthesia Facial palsy Hypertension Glycosuria Nephrolithiasis Respiratory distress Proximal muscle weakness Elevated serum creatinine Edema of the lower limbs Renal tubular dysfunction Increased variability in muscle fiber diameter Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Wheezing Renal tubular acidosis Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Progressive sensorineural hearing impairment Coronary artery atherosclerosis Microphthalmia Tubular atrophy Reduced ejection fraction Oligospermia Abnormal myocardium morphology Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormality of the nose Large earlobe Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Heat intolerance Supraventricular tachycardia Loss of consciousness Polydipsia Polyuria Hematuria Calcium oxalate nephrolithiasis Paroxysmal tachycardia Thick lower lip vermilion Nephrotic syndrome Abnormality of the cardiovascular system Muscle weakness Abdominal distention Muscle cramps Nephropathy Thick vermilion border Hyperglycinuria Thick eyebrow Bulbous nose Nausea Stage 5 chronic kidney disease Delayed puberty Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Corneal opacity Lymphedema Fasciculations Impaired vibratory sensation Easy fatigability Clubbing Heart murmur Personality changes Abnormal thrombosis Glomerulosclerosis Hemiplegia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Tinnitus Spontaneous abortion Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Hyperlipidemia Purpura Aminoaciduria Exercise intolerance Tubulointerstitial fibrosis Conjunctival telangiectasia Abnormality of the renal tubule Small hand Frequent falls Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Neuronal loss in central nervous system Gliosis Progressive cerebellar ataxia Parkinsonism Postural instability Neurodegeneration Abnormal pyramidal sign Stridor Pallor Rigidity Gait ataxia Dementia Babinski sign Cerebellar atrophy Tremor Dysarthria Hyperreflexia Ataxia Limb ataxia Postural tremor Abnormal atrioventricular conduction Central sleep apnea Female anorgasmia Autonomic erectile dysfunction Orthostatic syncope Camptocormia Civatte bodies Abnormal rapid eye movement sleep Autonomic bladder dysfunction Nocturia Orthostatic hypotension due to autonomic dysfunction Abnormal brain FDG positron emission tomography Iris atrophy Mask-like facies Axial dystonia Cogwheel rigidity Orofacial dyskinesia Olivopontocerebellar atrophy Dysuria Raynaud phenomenon Resting tremor Gaze-evoked nystagmus Bowel incontinence Urinary urgency Abnormal electrophysiology of sinoatrial node origin Vestibular dysfunction Abnormal cornea morphology Corneal crystals Obstructive lung disease 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 Retinal vascular tortuosity Hyposthenuria Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Stroke Supraventricular arrhythmia Dysesthesia Impaired temperature sensation Shortened QT interval Cornea verticillata Tortuosity of conjunctival vessels Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Hyperkeratotic papule Angiokeratoma corporis diffusum Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Prominent nasal bridge Carcinoma Skin rash Muscular dystrophy Hyperuricemia Hyperthyroidism Abnormality of the musculature Joint stiffness Distal muscle weakness Chorioretinal atrophy Increased antibody level in blood Blurred vision Pulmonary fibrosis Dilated cardiomyopathy Hemoptysis Epiphora Inflammation of the large intestine Pleural effusion Portal hypertension Hypercalcemia Hypercalciuria Eosinophilia Leukopenia Osteolysis Nephrocalcinosis Keratoconjunctivitis sicca Optic neuropathy Hyperpigmentation of the skin Abnormality of the pleura Chorioretinitis Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Pneumothorax Uveitis Anterior synechiae of the anterior chamber Night sweats Skin nodule Bone cyst Immune dysregulation Macular edema Upper airway obstruction Hypothermia Increased CSF protein Joint swelling Decreased liver function Limb muscle weakness Anterior uveitis Akinesia Pica Late-onset proximal muscle weakness Third degree atrioventricular block Sick sinus syndrome Intestinal pseudo-obstruction Right ventricular cardiomyopathy Hyporeflexia of lower limbs Skeletal myopathy Myofibrillar myopathy Atrial flutter Limb-girdle muscular dystrophy Ventricular extrasystoles Progressive proximal muscle weakness Neck muscle weakness Centrally nucleated skeletal muscle fibers Rimmed vacuoles Spinal rigidity Bulbar palsy Hypokinesia Difficulty climbing stairs Mildly elevated creatine phosphokinase Restrictive heart failure Visual impairment Bronchiectasis Weight loss Lower limb muscle weakness Pancytopenia Hypopigmentation of the skin Hemolytic anemia Hepatic failure Lymphadenopathy Generalized muscle weakness Scarring Erythema Photophobia Glaucoma Hepatomegaly Alopecia Thrombocytopenia Progressive muscle weakness Muscle stiffness Splenomegaly Blindness Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Dacryocystitis Abnormal salivary gland morphology Developmental regression Decreased muscle mass Cleft soft palate Spondylolisthesis Broad face Aortic dissection Hiatus hernia Soft skin Long palpebral fissure Abnormality of the sternum Reduced subcutaneous adipose tissue Cerebral hemorrhage Arterial tortuosity Ectopia lentis Patent foramen ovale Myopathy Joint contracture of the hand Exotropia Tall stature Osteoarthritis Blue sclerae Elevated serum creatine phosphokinase Overgrowth Graves disease Ascending aortic dissection Bruising susceptibility Posteriorly rotated ears Abnormality of the kidney Abnormality of the nervous system Proteinuria Anxiety Right bundle branch block Coarse facial features Arthralgia Mandibular prognathia Hyperkeratosis Abdominal pain Depressivity Arterial dissection Behavioral abnormality Vomiting Optic atrophy Delayed speech and language development Sensorineural hearing impairment Gait disturbance Abnormality of metabolism/homeostasis Increased arm span Cervical spine instability Bilateral coxa valga Bifid uvula Joint hypermobility Iridocyclitis Abnormal cardiac ventricular function Hypertelorism Growth delay Generalized hypotonia Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Abnormality of the nasal mucosa Increased T cell count Parotitis Cleft palate Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Muscular hypotonia Respiratory failure Long face Kyphoscoliosis Arachnodactyly Smooth philtrum Arthrogryposis multiplex congenita Dolichocephaly Small for gestational age Pectus carinatum Abnormal cardiac septum morphology Neonatal hypotonia Pes planus Retrognathia Proptosis High palate Brachycephaly Inguinal hernia Hyporeflexia Pectus excavatum Hernia Pneumonia Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Motor delay Abnormality of circulating catecholamine level



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