Visual impairment, and Hematuria

Diseases related with Visual impairment and Hematuria

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

Top matches:

Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.

RETINAL MACULAR DYSTROPHY TYPE 2 Is also known as mcdr2

Related symptoms:

  • Visual impairment
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Retinopathy
  • Hematuria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL MACULAR DYSTROPHY TYPE 2

Alport syndrome is a hereditary disorder of the basement membrane, resulting in a glomerulonephropathy causing renal failure. Progressive deafness and ocular anomalies may also occur (Mochizuki et al., 1994; Colville et al. (1997)). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive; autosomal dominant inheritance (OMIM ) is rare (van der Loop et al., 2000).See also benign familial hematuria (BFH ), a similar but milder disorder.

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ALPORT SYNDROME

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH, see this term), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT Is also known as meier-blumberg-imahorn syndrome|fhhnc with severe ocular involvement|hypercalciuria-bilateral macular coloboma syndrome|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|macular coloboma, bilateral, with hyperc

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Renal insufficiency
  • Hernia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITH SEVERE OCULAR INVOLVEMENT

Other less relevant matches:

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match HANAC SYNDROME

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

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

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria|peroxisomal alanine:glyoxylate aminotransferase deficiency|peroxisomal alanine-glyoxylate aminotransferase deficiency|hepatic agt deficiency|alanine-glyoxylate aminotransferase deficiency|serine:pyruvate aminotransferase deficiency|oxalo

Related symptoms:

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 1

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Top 5 symptoms//phenotypes associated to Visual impairment and Hematuria

Symptoms // Phenotype % cases
Stroke Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Visual loss Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Visual impairment and Hematuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Posterior embryotoxon Leukoencephalopathy Nephrolithiasis Raynaud phenomenon Pain Strabismus Nephropathy Cerebral hemorrhage Retinopathy

Rare Symptoms - Less than 30% cases

Optic atrophy Retinal hemorrhage Intellectual disability Perivascular spaces Cirrhosis Progressive visual loss Chorioretinal coloboma Hypoplasia of the iris Muscle cramps Hemiplegia Ischemic stroke Renal cyst Flexion contracture Peripheral neuropathy Dysarthria Elevated serum creatine phosphokinase Dilatation Headache Gastrointestinal hemorrhage Cerebellar atrophy Intracranial hemorrhage Nephrocalcinosis Migraine Spontaneous hematomas Nystagmus Reduced visual acuity Dyschromatopsia Hearing impairment Failure to thrive Sensorineural hearing impairment Myopia Proteinuria Stage 5 chronic kidney disease Microscopic hematuria Transient ischemic attack Hemiparesis Recurrent urinary tract infections Schizencephaly Dystonia Hemolytic anemia Polymicrogyria Abnormal pyramidal sign Abnormality of the dentition Cerebellar hypoplasia Babinski sign Nuclear cataract Hypertonia Limb dystonia Hydrocephalus Abnormality of metabolism/homeostasis Nausea and vomiting Nausea Metabolic acidosis Polyneuropathy Aciduria Stroke-like episode Porencephalic cyst Spastic hemiparesis Hemianopia Cortical dysplasia Dysphasia Antenatal intracerebral hemorrhage Drooling Pontocerebellar atrophy Fever Fatigue Abnormality of the skeletal system Mitral valve prolapse Cerebral palsy Vomiting Exotropia Facial paralysis Opisthotonus Tetraparesis Primitive reflex Visual field defect Restlessness Calcinosis Bone pain Abnormality of the periventricular white matter Mental deterioration Lower limb muscle weakness Sensory impairment Memory impairment Apraxia Telangiectasia Sinusitis Leukodystrophy Vasculitis Elevated erythrocyte sedimentation rate Lower limb hyperreflexia Glomerulopathy Aseptic necrosis Dementia Chronic sinusitis Macular edema Brain neoplasm Abnormality of the retinal vasculature Micronodular cirrhosis Limb pain Central nervous system degeneration Retinal exudate Vasculitis in the skin Focal white matter lesions Progressive forgetfulness Diminished ability to concentrate Elevated hepatic transaminase Behavioral abnormality Increased bone mineral density Chills Atherosclerosis Atrioventricular block Cutis marmorata Pathologic fracture Optic neuropathy Heart block Gangrene Acrocyanosis Peripheral arterial stenosis Dysuria Enuresis Pyelonephritis Choroidal neovascularization Edema Decreased glomerular filtration rate Intermittent claudication Flank pain Calcium oxalate nephrolithiasis Hyperoxaluria Calcinosis cutis Arterial occlusion Abnormality of circulating enzyme level Bladder stones Retinal crystals Ataxia Neoplasm Hyperreflexia Ventriculomegaly Pulmonary arterial hypertension Cognitive impairment Cleft lip Tapetoretinal degeneration Abnormality of calcium-phosphate metabolism Macular coloboma Renal magnesium wasting Hypermagnesiuria Renal calcium wasting Cleft palate Ptosis Microphthalmia Glaucoma Coloboma Amelogenesis imperfecta Corneal opacity Cleft upper lip Oral cleft Iris coloboma Retinal detachment Bilateral cleft lip Bilateral cleft lip and palate Neural tube defect Blindness Arthralgia Hypomagnesemia Severe vision loss Muscular dystrophy Bilateral sensorineural hearing impairment Macular degeneration Macular dystrophy Central scotoma Retinal pigment epithelial atrophy Cone dysfunction syndrome Bull's eye maculopathy Granular macular appearance Perifoveal ring of hyperautofluorescence Hypertension Abnormality of the kidney Nephrotic syndrome Hypercalciuria Nephritis Corneal erosion Thickening of the glomerular basement membrane Diffuse glomerular basement membrane lamellation Anterior lenticonus Hernia Inguinal hernia Umbilical hernia Abnormality of retinal pigmentation Horizontal nystagmus Chronic kidney disease Arthritis Bruising susceptibility Spasticity Abnormality of the cerebral vasculature Amblyopia Venous thrombosis Cholelithiasis Portal hypertension Microcytic anemia Telangiectasia of the skin Hemoptysis Pulmonary embolism Subarachnoid hemorrhage Arteriovenous malformation Esophageal varix Epistaxis Intestinal polyposis Visceral angiomatosis Cavernous hemangioma Conjunctival telangiectasia Cholecystitis Abnormality of cardiovascular system physiology Peripheral arteriovenous fistula Mucosal telangiectasiae Retinal telangiectasia Global developmental delay Rod-cone dystrophy Hepatic failure Osteoarthritis Intramuscular hematoma Arthropathy Thromboembolism Joint swelling Abnormality of the elbow Prolonged partial thromboplastin time Stomatitis Joint hemorrhage Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Oral cavity bleeding Congestive heart failure Bleeding with minor or no trauma Splenic rupture Arrhythmia Dilatation of the cerebral artery Multiple renal cysts Supraventricular arrhythmia Retinal vascular tortuosity Arterial tortuosity Macroscopic hematuria Retinal arteriolar tortuosity Retinal arterial tortuosity Punctate vasculitis skin lesions


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