Arthritis, and Stage 5 chronic kidney disease

Diseases related with Arthritis and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Arthritis and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


Top matches:

Medium match REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE


Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS).

REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE Is also known as early-onset hyperuricemia, anemia, and progressive kidney failure|ren-associated fjhn|ren-associated kidney disease|familial juvenile hyperuricemic nephropathy type 2|ren-associated familial juvenile hyperuricemic nephropathy|adtkd-ren|fjhn type 2

Related symptoms:

  • Anemia
  • Renal insufficiency
  • Stage 5 chronic kidney disease
  • Nephropathy
  • Renal cyst


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about REN-RELATED AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE

Medium match MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2


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).For a general phenotypic description and a discussion of genetic heterogeneity of medullary cystic kidney disease, see MCKD1 (OMIM ).

MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2 Is also known as admckd2|medullary cystic kidney disease 2, autosomal dominant

Related symptoms:

  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Nephropathy


SOURCES: OMIM MENDELIAN

More info about MEDULLARY CYSTIC KIDNEY DISEASE 2; MCKD2

Medium match ADENINE PHOSPHORIBOSYLTRANSFERASE 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

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Other less relevant matches:

Medium match POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6


Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Renal cyst


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6

Medium match FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1


Familial juvenile hyperuricemic nephropathy type 1 (FJHN1) is a rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age.

FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1 Is also known as familial nephropathy with gout|umod-associated fjhn|hnfj|familial juvenile hyperuricemic nephropathy|gouty nephropathy, familial juvenile|familial juvenile gouty nephropathy|fjhn type 1|fjhn|hyperuricemic nephropathy, familial juvenile|umod-associated fam

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Arthritis
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY TYPE 1

Medium match FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT


FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT Is also known as fmf, autosomal dominant

Related symptoms:

  • Pain
  • Fever
  • Renal insufficiency
  • Abdominal pain
  • Arthralgia


SOURCES: MESH OMIM MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT

Medium match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

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 MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

Medium match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Top 5 symptoms//phenotypes associated to Arthritis and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Nephropathy Common - Between 50% and 80% cases
Gout Common - Between 50% and 80% cases
Renal cyst Common - Between 50% and 80% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Hyperuricemia Tubular atrophy Nephronophthisis Arthralgia Proteinuria Hematuria Tubulointerstitial nephritis Anemia Nephritis Pain

Rare Symptoms - Less than 30% cases


Seizures Renal amyloidosis Episodic fever Hearing impairment Amyloidosis Sensorineural hearing impairment Renal corticomedullary cysts Tubular basement membrane disintegration Abdominal pain Fever Intellectual disability Elevated serum creatinine Multiple small medullary renal cysts Renal hypoplasia Tubulointerstitial fibrosis Hyperechogenic kidneys Renal salt wasting Tubulointerstitial abnormality Chronic kidney disease Decreased glomerular filtration rate Nephrolithiasis Polycystic kidney dysplasia Carpal osteolysis Gait disturbance Corneal opacity Camptodactyly of finger Retinopathy Telecanthus Osteopenia Polyhydramnios Proptosis Pes cavus Micrognathia Wide nasal bridge Downturned corners of mouth Rigors Band keratopathy Cystinuria Chills Recurrent aphthous stomatitis Microscopic hematuria Papilledema Abnormality of the mouth Progressive sensorineural hearing impairment Pulmonic stenosis Triangular face Hypoplasia of the maxilla Slender long bone Hypertensive retinopathy Azotemia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the hand Leukocytosis Metatarsal osteolysis Metacarpal osteolysis Juvenile rheumatoid arthritis Abnormality of the wrist Rheumatoid arthritis Ankle swelling Elevated alkaline phosphatase Cachexia Osteolysis EMG abnormality Abnormality of epiphysis morphology Wrist swelling Doll-like facies Interphalangeal joint contracture of finger Hypotelorism Limitation of joint mobility Elevated erythrocyte sedimentation rate Renal cortical cysts Urticaria Cardiomyopathy Hypotension Cerebral cortical atrophy Chronic pancreatitis Pancreatic cysts Kinetic tremor Arachnoid cyst Pancreatitis Retinal degeneration Dilated cardiomyopathy Tremor Glomerulosclerosis Polyarticular arthritis Erysipelas Pleuritis Peritonitis Chest pain Multiple glomerular cysts Hepatic cysts Dysuria Recurrent urinary tract infections Focal segmental glomerulosclerosis Hypercalciuria Polydipsia Conjunctivitis Diarrhea Vasculitis Meningitis Nephrotic syndrome Abnormality of the skin Coma Ichthyosis Lymphadenopathy Skin rash Myalgia Hepatosplenomegaly Abnormality of the skeletal system Polyuria Fatigue Renal cortical atrophy Impaired renal uric acid clearance Pyuria Global glomerulosclerosis Flank pain Distal renal tubular acidosis Thin bony cortex Hemihypertrophy Fair hair Osteolysis involving tarsal bones



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