Pain, and Nephropathy

Diseases related with Pain and Nephropathy

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


Top matches:

Medium match PRIMARY HYPEROXALURIA TYPE 2


Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.

PRIMARY HYPEROXALURIA TYPE 2 Is also known as l-glyceric aciduria|glyoxylate reductase/hydroxypyruvate reductase deficiency|oxalosis ii|d-glycerate dehydrogenase deficiency|glyceric aciduria

Related symptoms:

  • Pain
  • Renal insufficiency
  • Abdominal pain
  • Stage 5 chronic kidney disease
  • Nephropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 2

Medium match ADULT HYPOPHOSPHATASIA


Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia (see this term) characterized by osteomalacia,chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies.

ADULT HYPOPHOSPHATASIA Is also known as hypophosphatasia, mild|adult phosphoethanolaminuria|adult rathburn disease

Related symptoms:

  • Abnormality of the skeletal system
  • Osteoporosis
  • Arthralgia
  • Carious teeth
  • Abnormality of the foot


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT HYPOPHOSPHATASIA

Medium match CYSTINURIA


Cystinuria is an autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure (summary by Barbosa et al., 2012).

CYSTINURIA Is also known as cystinuria, type non-i, formerly|cystinuria, type i, formerly|cystinuria, type iii, formerly|csnu1, formerly|csnu|csnu3, formerly|cystinuria, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Pain
  • Renal insufficiency
  • Abnormality of the nervous system
  • Nausea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTINURIA

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Other less relevant matches:

Medium match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Medium match AA AMYLOIDOSIS


Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Medium 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

Medium match MEDULLARY SPONGE KIDNEY


Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

Medium match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Medium match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Medium match OVERHYDRATED HEREDITARY STOMATOCYTOSIS


Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Top 5 symptoms//phenotypes associated to Pain and Nephropathy

Symptoms // Phenotype % cases
Hematuria Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Proteinuria Uncommon - Between 30% and 50% cases
Recurrent urinary tract infections Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Nephropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abdominal pain Stage 5 chronic kidney disease Hypertension Hepatomegaly Nephrotic syndrome Abnormality of the kidney Acute kidney injury Pyelonephritis Flank pain Nephrolithiasis

Rare Symptoms - Less than 30% cases


Hypotension Hydronephrosis Renal hypoplasia Hydroureter Vesicoureteral reflux Skin rash Cholestasis Chronic kidney disease Amyloidosis Renal amyloidosis Nausea Anemia Polydipsia Polyuria Edema Splenomegaly Hepatosplenomegaly Hyperuricemia Keratitis Dysuria Aminoaciduria Arthralgia Aciduria Wolff-Parkinson-White syndrome Constipation Sepsis Urinary incontinence Clubbing Keratoconjunctivitis sicca Enuresis Urinary retention Neurogenic bladder Cryptorchidism Facial grimacing Urethral stenosis Mild proteinuria Enuresis nocturna Urethral obstruction Urethral valve Encopresis Dilatation Abnormality of the nervous system Abnormal facial expression Tubulointerstitial fibrosis Gout Elevated serum creatinine Tubulointerstitial nephritis Fair hair Renal salt wasting Tubular atrophy Hemihypertrophy Thin bony cortex Decreased glomerular filtration rate Renal cortical atrophy Distal renal tubular acidosis Tubulointerstitial abnormality Renal cortical cysts Renal corticomedullary cysts Multiple small medullary renal cysts Tubular basement membrane disintegration Global glomerulosclerosis Pyuria Impaired renal uric acid clearance Abnormal facial shape Neoplasm Nocturnal lagophthalmos Increased antibody level in blood Hemolytic anemia Hepatic steatosis Dehydration Hydrops fetalis Hyperbilirubinemia Brittle hair Abnormality of mitochondrial metabolism Pulmonary fibrosis Reticulocytosis Cough Anisocytosis Spherocytosis Poikilocytosis Stomatocytosis Intermittent jaundice Sideroblastic anemia Congenital hemolytic anemia Increased red cell osmotic fragility Lactic acidosis Pallor Hearing impairment Optic neuropathy Peripheral neuropathy Cardiomyopathy Nephrocalcinosis Glaucoma Weight loss Paresthesia Polyneuropathy Urticaria Papilledema Respiratory tract infection Drusen Restrictive cardiomyopathy Albuminuria Generalized amyloid deposition Generalized hypotonia Diarrhea Jaundice Rigidity Nephronophthisis Nephritis Intellectual disability Bilateral renal dysplasia Abnormality of the urinary system Sarcoma Cerebral hemorrhage Pathologic fracture Cystic renal dysplasia Ureteropelvic junction obstruction Renal duplication Ureterocele Congenital megaureter Renal dysplasia Renal sarcoma Bowing of the legs Vomiting Abnormal heart morphology Hypothyroidism Rickets Malabsorption Hypercalcemia Multicystic kidney dysplasia Osteomalacia Chronic diarrhea Abnormality of amino acid metabolism Hyperparathyroidism Low alkaline phosphatase Premature loss of permanent teeth Tetany Cystinuria Hyperlysinuria Premature loss of primary teeth Hypocalcemic tetany Ornithinuria Arthropathy Argininuria Polyhydramnios Hypophosphatemic rickets Chondrocalcinosis Premature loss of teeth Renal agenesis Abnormality of the cardiovascular system Oligohydramnios Hypoplasia of dental enamel Ventricular tachycardia Calcium oxalate nephrolithiasis Discoid lupus rash Glomerulonephritis Abnormality of the skeletal system Glomerulopathy Microscopic hematuria Facial erythema Membranoproliferative glomerulonephritis IgA deposition in the glomerulus Macroscopic hematuria Loss of eyelashes Meningitis Decreased serum complement factor I Ureteral obstruction Hyperoxaluria Cerebral cortical atrophy Renal cyst Hypercalciuria Polycystic kidney dysplasia Glomerulosclerosis Systemic lupus erythematosus Hepatitis Venous thrombosis Abnormal oral mucosa morphology Recurrent fractures Atrioventricular block Adrenal insufficiency Malnutrition Abnormality of the foot Enlarged kidney Abnormal renal physiology Abnormal echocardiogram Carious teeth Osteoporosis Abnormal cardiac ventricle morphology Cardiac amyloidosis Hepatic amyloidosis Cataract Immunodeficiency Recurrent infections Pneumonia Erythema Autoimmunity Increased intracellular sodium



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