Arthritis, and Nephrolithiasis

Diseases related with Arthritis and Nephrolithiasis

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

Top matches:

Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.

HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY Is also known as hprt deficiency, grade i|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|hypoxanthine guanine phosphoribosyltransferase deficiency, grade i|hprt-related hyperuricemia|hprt1 partial deficiency|gout, hprt-related|hprt1 deficiency, parti

Related symptoms:

  • Fever
  • Renal insufficiency
  • Arthritis
  • Nephropathy
  • Nephrolithiasis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY Is also known as aprt deficiency|2,8-dihydroxyadenine urolithiasis|urolithiasis, 2,8-dihydroxyadenine|nephrolithiasis, dha|urolithiasis, dha

Related symptoms:

  • Renal insufficiency
  • Arthritis
  • Stage 5 chronic kidney disease
  • Hematuria
  • Nephropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see {167250}.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Recurrent fractures


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 6; PDB6

Other less relevant matches:

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

Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match ALKAPTONURIA

Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Nephrolithiasis

Symptoms // Phenotype % cases
Hyperuricemia Common - Between 50% and 80% cases
Gout Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Nephropathy Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Arthritis and Nephrolithiasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Short stature Hearing impairment Intellectual disability Global developmental delay Stage 5 chronic kidney disease Proteinuria Hematuria Excessive purine production Hyperuricosuria

Rare Symptoms - Less than 30% cases

Recurrent infections Decreased glomerular filtration rate Seizures Elevated hepatic transaminase Growth delay Renal cortical cysts Fever Arthralgia Ataxia Oral ulcer Polydipsia Generalized hypotonia Muscular hypotonia Hypertonia Diabetes mellitus Elevated serum creatinine Motor delay Chronic kidney disease Renal cyst Osteoarthritis Cerebral cortical atrophy Myocardial infarction Abnormality of the kidney Anemia Recurrent urinary tract infections Podagra Renal hypoplasia Acute kidney injury Prominent forehead Epicanthus Thickened Achilles tendon Intervertebral disk calcification Tendonitis Pigmentation of the sclera Ochronosis Aminoaciduria Strabismus Sensorineural hearing impairment Arrhythmia Peripheral neuropathy Cardiomyopathy Aciduria Areflexia Hyperactivity Coronary artery calcification Pneumonia Abnormality of the nail Blue sclerae Tendon rupture Calcification of cartilage Prostatitis Abnormality of vision Back pain Aortic aneurysm Abnormality of the ear Vertebral fusion Hyperparathyroidism Growth abnormality Abnormal heart valve morphology Abnormal joint morphology Abnormality of the nervous system Irregular hyperpigmentation Joint swelling Reduced bone mineral density Cartilage destruction Atherosclerosis Ankylosis Hearing abnormality Abnormality of the nose Low back pain Chronic pain Dark urine Aortic valve calcification Mitral valve calcification Intervertebral disc degeneration Abnormality of the urinary system Joint dislocation Arthropathy High-frequency hearing impairment Wide mouth Ureteropelvic junction obstruction Pyloric stenosis Unilateral renal agenesis Glucose intolerance Hypoplasia of the uterus Glycosuria Glomerulopathy Proportionate short stature Renal cell carcinoma Exocrine pancreatic insufficiency Bicornuate uterus Maturity-onset diabetes of the young Biliary tract abnormality Pancreatic hypoplasia Multicystic kidney dysplasia Uterus didelphys Renal Fanconi syndrome Reduced sperm motility Multiple glomerular cysts Absent vas deferens Epididymal cyst Papillary cystadenoma of the epididymis Decreased numbers of nephrons Aplasia/Hypoplasia of the pancreas Abnormality of exocrine pancreas physiology Abnormality of endocrine pancreas physiology Atretic vas deferens Spastic paraparesis Paraparesis Neurological speech impairment Abnormality of skeletal muscles Hypermetropia Abnormality of eye movement Dysmetria Peripheral axonal neuropathy Polyneuropathy Triangular face Convex nasal ridge Hypotelorism Arnold-Chiari type I malformation Joint stiffness Abnormal aortic morphology Increased urinary hypoxanthine Uric acid nephrolithiasis Horseshoe kidney Abnormality of the dentition Hypospadias Hypothyroidism Mandibular prognathia Jaundice Abnormality of the liver Infertility Joint hyperflexibility Hirsutism Hepatic steatosis Renal agenesis Renal dysplasia Abnormality of skin pigmentation Hypoglycemia Abnormality of the eye Chest pain Pyuria Impaired renal uric acid clearance Renal cortical atrophy Diarrhea Abdominal pain Weight loss Myalgia Camptodactyly Autoimmunity Skin rash Papule Asthma Tubular basement membrane disintegration Ventricular hypertrophy Inflammatory abnormality of the skin Blurred vision Elevated erythrocyte sedimentation rate Keratoconjunctivitis sicca Pericarditis Episodic fever Uveitis Xerostomia Episodic abdominal pain Pleuritis Global glomerulosclerosis Multiple small medullary renal cysts Spasticity Glomerulosclerosis Dysuria Neoplasm Recurrent fractures Left ventricular hypertrophy Bone pain Nephrocalcinosis Elevated alkaline phosphatase Coronary artery atherosclerosis Hypotension Hypercalciuria Polycystic kidney dysplasia Nephritis Renal corticomedullary cysts Polyuria Nephronophthisis Tubulointerstitial nephritis Fair hair Renal salt wasting Tubular atrophy Hemihypertrophy Thin bony cortex Tubulointerstitial fibrosis Distal renal tubular acidosis Tubulointerstitial abnormality Flank pain Scoliosis Flexion contracture Abnormality of metabolism/homeostasis Recurrent bacterial infections Focal dystonia Testicular atrophy Facial grimacing Bladder stones Hepatomegaly Osteoporosis Acidosis Delayed puberty Lactic acidosis Neutropenia Abnormal bleeding Hyperlipidemia Megaloblastic anemia Pancreatitis Inflammation of the large intestine Focal segmental glomerulosclerosis Protuberant abdomen Hepatocellular carcinoma Enlarged kidney Xanthomatosis Xanthelasma Lipemia retinalis Doll-like facies Cognitive impairment Kyphosis Dyslexia Self-mutilation Delayed speech and language development Irritability Hyperreflexia Dysarthria Dysphagia Vomiting Behavioral abnormality Dystonia Intellectual disability, mild Clinodactyly Clinodactyly of the 5th finger Rigidity Aggressive behavior Hip dislocation Opisthotonus Chorea Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Stereotypy Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Athetosis Abnormality of alkaline phosphatase activity


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