Cataract, and Tachycardia

Diseases related with Cataract and Tachycardia

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

Top matches:

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

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

Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Other less relevant 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

Abdominal aortic aneurysm is a multifactorial disorder with multiple genetic and environmental risk factors. The disorder may occur as part of a heritable syndrome or in isolation (summary by Kuivaniemi et al., 2003). Genetic Heterogeneity of Abdominal Aortic AneurysmMapped loci for abdominal aortic aneurysm include AAA1 on chromosome 19q13; AAA2 (OMIM ) on chromosome 4q31; AAA3 (OMIM ) on chromosome 9p21; and AAA4 (OMIM ) on chromosome 12q13.

FAMILIAL ABDOMINAL AORTIC ANEURYSM Is also known as aneurysm, abdominal aortic|aaa|abdominal aortic aneurysm

Related symptoms:

  • Pain
  • Cataract
  • Hypertension
  • Vomiting
  • Dilatation


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL ABDOMINAL AORTIC ANEURYSM

Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

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

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

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

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Top 5 symptoms//phenotypes associated to Cataract and Tachycardia

Symptoms // Phenotype % cases
Pain Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dilatation Palpitations Myopathy Arrhythmia Myalgia Muscular dystrophy Lower limb muscle weakness Progressive muscle weakness Muscle weakness Sudden cardiac death Dilated cardiomyopathy Ventricular tachycardia Seizures

Rare Symptoms - Less than 30% cases

Dysphagia Atrial fibrillation Delayed speech and language development Peripheral neuropathy Respiratory distress Myotonia Respiratory failure Proximal muscle weakness Facial palsy Distal muscle weakness Leukoencephalopathy Limb muscle weakness Spontaneous abortion Skeletal muscle atrophy Frontal balding Cognitive impairment Ptosis Hypogonadism Hearing impairment Mental deterioration Intellectual disability Cerebral hemorrhage Atrioventricular block Atrial flutter Dementia Heart block Centrally nucleated skeletal muscle fibers Stroke Increased variability in muscle fiber diameter Diffuse leukoencephalopathy Neurofibrillary tangles Myocardial infarction Hematuria Nausea Retinopathy Syncope Congenital cataract Diabetes mellitus Microphthalmia Tremor Chest pain Dysphonia Talipes Retinal hemorrhage Feeding difficulties in infancy Polyhydramnios Migraine with aura Neonatal hypotonia Blurred vision Unsteady gait Sensory neuropathy Neuritis Premature birth Porencephalic cyst Mitral valve prolapse Decreased fetal movement Hydrops fetalis Hypopigmentation of the fundus Insulin resistance Cardiac arrest Intellectual disability, progressive Cholelithiasis Brain atrophy Cerebral atrophy Cerebral cortical atrophy Optic neuritis Elevated circulating follicle stimulating hormone level Posterior leukoencephalopathy Retinal arterial tortuosity IgM deficiency Neck flexor weakness Arteriosclerosis Hypersomnia Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Perivascular spaces Arterial tortuosity Polycoria Rieger anomaly Type 2 muscle fiber atrophy Insulin insensitivity Iridescent posterior subcapsular cataract Generalized hypotonia Muscular hypotonia Motor delay Edema Intellectual disability, severe Anterior synechiae of the anterior chamber Alzheimer disease Facial diplegia Anterior segment developmental abnormality Retinal detachment Intellectual disability, mild Headache Depressivity Glaucoma Abnormality of the nervous system Corneal opacity Abnormality of the cerebral white matter Hypermetropia Astigmatism Nephropathy Hypopigmentation of the skin Myopia Microcornea Renal cyst Muscle cramps Tetraplegia Migraine Spastic tetraplegia Hemiparesis Amblyopia Paraparesis Spastic paraparesis Intracranial hemorrhage Cerebellar atrophy Dysarthria Thin ribs Posterior embryotoxon Abnormal EKG Hemiplegia Nonimmune hydrops fetalis Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Testicular atrophy Increased intraocular pressure First degree atrioventricular block Hypoplasia of the iris Excessive daytime sleepiness Visual impairment Infantile spasms Narcolepsy Obsessive-compulsive trait Percussion myotonia Ring fibers Global developmental delay Scotoma Microcephaly Congenital glaucoma Male hypogonadism Strabismus Nystagmus Restrictive cardiomyopathy Oligospermia Cranial nerve compression Glomerulosclerosis Aniridia Episodic abdominal pain Vocal cord paralysis Raynaud phenomenon Flushing Neoplasm of the endocrine system Pheochromocytoma Paraganglioma Sinus tachycardia Albuminuria Hemangioma Recurrent paroxysmal headache Renal artery stenosis Pulsatile tinnitus Episodic paroxysmal anxiety Adrenal pheochromocytoma Hypertension associated with pheochromocytoma Hypertensive retinopathy Panic attack Episodic hyperhidrosis Extraadrenal pheochromocytoma Elevated urinary epinephrine Hypercalcemia Cafe-au-lait spot Paraganglioma of head and neck Atherosclerosis Mitral regurgitation Reduced ejection fraction Nephrolithiasis Glycosuria Hyperglycinuria Calcium oxalate nephrolithiasis Paroxysmal tachycardia Vomiting Hernia Abnormality of the cardiovascular system Shock Pallor Aortic aneurysm Peripheral arterial stenosis Thoracic aortic aneurysm Abdominal aortic aneurysm Neoplasm Fatigue Hyperhidrosis Weight loss Conductive hearing impairment Carcinoma Proteinuria Elevated urinary dopamine Positive regitine blocking test IgG deficiency Hyporeflexia of lower limbs Hypokinesia Bulbar palsy Spinal rigidity Rimmed vacuoles Neck muscle weakness Progressive proximal muscle weakness Ventricular extrasystoles Abnormality of metabolism/homeostasis Myofibrillar myopathy Skeletal myopathy Right ventricular cardiomyopathy Mildly elevated creatine phosphokinase Intestinal pseudo-obstruction Sick sinus syndrome Third degree atrioventricular block Late-onset proximal muscle weakness Pica Restrictive heart failure Infertility Confusion Decreased antibody level in blood Hypercholesterolemia Epiphora Difficulty climbing stairs Right bundle branch block Paroxysmal vertigo Joint stiffness Elevated urinary norepinephrine Episodic hypertension Scoliosis Flexion contracture Gait disturbance Respiratory insufficiency Diarrhea Constipation Pneumonia Dyspnea Hypertrophic cardiomyopathy Paresthesia Bundle branch block Vertigo Generalized muscle weakness Ventricular hypertrophy Muscle stiffness Elbow flexion contracture Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Limb-girdle muscular dystrophy Akinesia Tricuspid regurgitation Thalamic hemorrhage


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