Arthritis, and Nephropathy

Diseases related with Arthritis and Nephropathy

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


Top matches:

Medium match HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE PARTIAL DEFICIENCY


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

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

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Other less relevant matches:

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

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 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

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 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

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 LESCH-NYHAN SYNDROME; LNS


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

Top 5 symptoms//phenotypes associated to Arthritis and Nephropathy

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Hyperuricemia Common - Between 50% and 80% cases
Gout Common - Between 50% and 80% cases
Hematuria Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Renal cyst Abnormality of the kidney Nephrolithiasis Hypertension Chronic kidney disease Tubulointerstitial nephritis Pain Proteinuria Nephritis Tubular atrophy Elevated serum creatinine

Rare Symptoms - Less than 30% cases


Recurrent urinary tract infections Nephrotic syndrome Short stature Multiple small medullary renal cysts Vasculitis Fever Hearing impairment Tubulointerstitial abnormality Focal segmental glomerulosclerosis Podagra Renal salt wasting Renal hypoplasia Hyperuricosuria Excessive purine production Hyperechogenic kidneys Tubulointerstitial fibrosis Nephronophthisis Spasticity Muscular hypotonia Scoliosis Generalized hypotonia Chills Global developmental delay Intellectual disability Rigors Renal amyloidosis Band keratopathy Flexion contracture Cystinuria Lymphadenopathy Papilledema Recurrent aphthous stomatitis Microscopic hematuria Abnormality of the mouth Episodic fever Amyloidosis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Conjunctivitis Meningitis Abnormality of the skin Delayed speech and language development Ichthyosis Coma Abnormality of extrapyramidal motor function Motor delay Athetosis Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Opisthotonus Clumsiness Self-mutilation Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Stereotypy Choreoathetosis Hyperreflexia Intellectual disability, mild Dysarthria Dysphagia Vomiting Hypertonia Behavioral abnormality Dystonia Clinodactyly Myalgia Clinodactyly of the 5th finger Rigidity Aggressive behavior Irritability Hip dislocation Chorea Skin rash Patellar dislocation Hepatosplenomegaly Cerebral cortical atrophy Renal corticomedullary cysts Flank pain Renal cortical cysts Distal renal tubular acidosis Decreased glomerular filtration rate Thin bony cortex Hemihypertrophy Fair hair Polyuria Polydipsia Glomerulosclerosis Polycystic kidney dysplasia Hypercalciuria Hypotension Velopharyngeal insufficiency Global glomerulosclerosis Preaxial polydactyly Bifid uvula Neutropenia Postnatal growth retardation Polydactyly Recurrent infections Dilatation Intrauterine growth retardation Cognitive impairment Cleft palate Growth delay Multiple glomerular cysts Dysuria Acute kidney injury Tubular basement membrane disintegration Pyuria Arthralgia Abnormal toenail morphology Abdominal pain Diarrhea Abnormality of the skeletal system Fatigue Sensorineural hearing impairment Seizures Thickening of the lateral border of the scapula Iliac horns Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the patella Concave nail Ridged nail Abnormality of the upper limb Abnormality of the lower limb Abnormality of the elbow Impaired renal uric acid clearance Exostoses Joint swelling Glomerulopathy Hypoplastic toenails Cubitus valgus Abnormality of the fingernails Joint dislocation Osteoarthritis Joint hyperflexibility Joint stiffness Skeletal dysplasia Glaucoma Cataract Renal cortical atrophy Bladder stones



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