Cataract, and Proteinuria

Diseases related with Cataract and Proteinuria

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


Top matches:

Low match AUTOSOMAL RECESSIVE ALPORT SYNDROME


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

Low match ALPORT SYNDROME, AUTOSOMAL DOMINANT


Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). 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 (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

Low match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

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Other less relevant matches:

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY


Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

Low match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS


Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis is a form of X-linked hypercalciuric nephrocalcinosis, a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see {300009}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS

Low match MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS


Macrothrombocytopenia with or without granulocyte inclusions, nephritis, or sensorineural hearing loss was previously thought to be comprised of 4 distinct entities with overlapping features: Fechtner syndrome, May-Hegglin anomaly, Epstein syndrome, and Sebastian syndrome. Fechtner syndrome was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes, with the additional Alport syndrome (OMIM )-like features of nephritis, hearing loss, and eye abnormalities, predominantly cataracts (Peterson et al., 1985). May-Hegglin anomaly was characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. Epstein syndrome was characterized by thrombocytopenia, deafness, and nephritis, and lacked leukocyte inclusion bodies on classic staining of peripheral blood smears. Sebastian syndrome was similar to May-Hegglin anomaly, but had a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders were not distinct entities, but rather represented a single disorder with a continuous clinical spectrum because variable phenotypic expression is observed not only between families but also within families having the same MYH9 mutation. In addition, Balduini et al. (2011) noted that all patients present leukocyte inclusion bodies, although of variable size. Seri et al. (2003) proposed the term 'MYH9-related disease' for the disorder; however, an isolated form of nonsyndromic deafness (DFNA17 ) is also caused by mutation in the MYH9 gene.

MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS Is also known as may-hegglin anomaly|apsm, formerly|macrothrombocytopenia, nephritis, and deafness|fechtner syndrome|alport syndrome with macrothrombocytopenia, formerly|macrothrombocytopenia with dispersed leukocytic inclusions|bleeding disorder, platelet-type, 6|macroth

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Gait disturbance
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS; MATINS

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

Top 5 symptoms//phenotypes associated to Cataract and Proteinuria

Symptoms // Phenotype % cases
Hematuria Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Microscopic hematuria Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Nephrotic syndrome Nephropathy Sensorineural hearing impairment Hypertension Thickening of the glomerular basement membrane Hypophosphatemia Failure to thrive Diffuse glomerular basement membrane lamellation Glomerulonephritis Nephritis Myopia

Rare Symptoms - Less than 30% cases


Rickets Abnormality of the lower limb Glaucoma Mild proteinuria Fever Recurrent infections Glomerulopathy Hyperuricosuria Hyperphosphaturia Growth delay Macroscopic hematuria Osteomalacia Short stature Glycosuria Hypercalciuria Bowing of the legs Aminoaciduria Pain Lenticonus Constipation Vomiting Macrothrombocytopenia Congenital cataract Nephrocalcinosis Abnormality of the kidney Myocardial infarction Bilateral sensorineural hearing impairment Anterior lenticonus Fasting hypoglycemia Enlarged epiphyses Enlargement of the wrists Low-molecular-weight proteinuria Bulging epiphyses Hypergalactosemia Sparse bone trabeculae Enlargement of the ankles Tubulointerstitial fibrosis Increased serum 1,25-dihydroxyvitamin D3 Renal hypophosphatemia Non-acidotic proximal tubulopathy Gait disturbance Thrombocytopenia Spastic paraplegia Paraplegia Bruising susceptibility Renal phosphate wasting Galactosuria Proximal tubulopathy Chronic kidney disease Galactose intolerance Elevated serum creatine phosphokinase Abdominal pain Difficulty walking Recurrent fractures Aciduria Nephrolithiasis Bone pain Glomerulosclerosis Albuminuria Impairment of galactose metabolism Metaphyseal irregularity Focal segmental glomerulosclerosis Delayed epiphyseal ossification Mild global developmental delay Tubular atrophy Epistaxis Thin bony cortex Gastrointestinal hemorrhage Prolonged bleeding time Spastic gait Polydipsia Hepatic steatosis Metabolic acidosis Abdominal distention Increased body weight Pancreatitis Hyperlipidemia Hypercholesterolemia Hypokalemia Elevated alkaline phosphatase Hyperglycemia Hyperlordosis Polyuria Reduced subcutaneous adipose tissue Hyperuricemia Renal tubular acidosis Poor appetite Protuberant abdomen Ketosis Renal tubular dysfunction Microalbuminuria Malabsorption Hypoglycemia Menorrhagia Leukocyte inclusion bodies Ketonuria Single umbilical artery Ecchymosis Impaired platelet aggregation Abnormal thrombosis Giant platelets Bladder exstrophy Exstrophy Bifid clitoris Moderate proteinuria Generalized aminoaciduria Global developmental delay Hepatomegaly Obesity Severe short stature Hypouricemia Cognitive impairment Osteoporosis Acidosis Osteopenia Hepatosplenomegaly Intellectual disability, mild Respiratory tract infection Muscular hypotonia Bilateral facial palsy Corneal dystrophy Bulbar palsy Orthostatic hypotension Amyloidosis Abnormality of abdomen morphology Bulbar signs Facial paralysis Lattice corneal dystrophy Cardiac amyloidosis Generalized amyloid deposition Abnormal autonomic nervous system physiology Immunodeficiency Pneumonia Arthralgia Erythema Autoimmunity Skin rash Hepatitis Meningitis Systemic lupus erythematosus Cutis laxa Palpitations Facial erythema Wheezing Visual loss Corneal erosion Anterior polar cataract Azotemia Dysphagia Dyspnea Cough Asthma Skeletal muscle hypertrophy High-frequency sensorineural hearing impairment Hypotension Diffuse leiomyomatosis Tracheobronchial leiomyomatosis Ptosis Peripheral neuropathy Cardiomyopathy Paralysis Corneal opacity Poor speech Everted lower lip vermilion Polyneuropathy Keratitis Membranoproliferative glomerulonephritis Generalized hypotonia Full cheeks Respiratory insufficiency Respiratory distress Inguinal hernia Polydactyly Thin upper lip vermilion Cleft lip Narrow chest Oral cleft Short foot Limb undergrowth Thickening of the lateral border of the scapula Renal hypoplasia Rhizomelia Short ribs Metaphyseal widening Elevated serum creatinine Thoracic dysplasia Pes valgus Short iliac bones Chronic tubulointerstitial nephritis Intellectual disability Brachydactyly Iliac horns IgA deposition in the glomerulus Abnormality of the fingernails Discoid lupus rash Loss of eyelashes Decreased serum complement factor I Skeletal dysplasia Joint stiffness Joint hyperflexibility Osteoarthritis Vasculitis Joint dislocation Cubitus valgus Aplastic/hypoplastic toenail Hypoplastic toenails Joint swelling Exostoses Patellar dislocation Abnormality of the elbow Abnormal toenail morphology Abnormality of the upper limb Ridged nail Concave nail Aplasia/Hypoplasia of the patella Chronic acidosis



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