Arthritis, and Renal cyst

Diseases related with Arthritis and Renal cyst

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


Top matches:

Low 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

Low 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

Low 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

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Other less relevant matches:

Low 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

Low 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

Low 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

Low 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

Low match RENAL CYSTS AND DIABETES SYNDROME


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

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Renal cyst

Symptoms // Phenotype % cases
Gout Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Nephropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperuricemia

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Short stature Elevated serum creatinine Intellectual disability Anemia Chronic kidney disease Tubular atrophy Hearing impairment Proteinuria Renal hypoplasia Seizures Tubulointerstitial nephritis Nephritis Nephronophthisis

Rare Symptoms - Less than 30% cases


Global developmental delay Abnormality of the hand Renal corticomedullary cysts Tubular basement membrane disintegration Cerebral cortical atrophy Nephrolithiasis Muscular hypotonia Renal cortical cysts Obesity Unilateral renal agenesis Hypospadias Hypothyroidism Generalized hypotonia Renal agenesis Scoliosis Renal dysplasia Horseshoe kidney Multicystic kidney dysplasia Immunodeficiency Short neck Polydipsia Velopharyngeal insufficiency Recurrent infections Focal segmental glomerulosclerosis Tubulointerstitial fibrosis Hyperechogenic kidneys Renal salt wasting Tubulointerstitial abnormality Multiple small medullary renal cysts Polycystic kidney dysplasia Decreased glomerular filtration rate Multiple glomerular cysts Growth delay Cleft palate Cognitive impairment Intrauterine growth retardation Dilatation Abnormal facial shape Bifid uvula Postnatal growth retardation Hematuria Multiple joint dislocation Pulmonic stenosis Retrognathia Umbilical hernia Conductive hearing impairment Anxiety Aggressive behavior Mental deterioration Abnormality of the pinna Blepharophimosis Autoimmunity Partial duplication of the distal phalanx of the hallux Congenital cataract Advanced tarsal ossification Anal atresia Large joint dislocations Dysmetria Hyperactivity Bulbous nose Hemolytic anemia Bifid distal phalanx of the thumb Chorea Vesicoureteral reflux Underdeveloped nasal alae Psychosis Specific learning disability Amenorrhea Peripheral demyelination Tetralogy of Fallot Phalangeal dislocation Vertebral clefting Posteriorly rotated ears Cerebellar atrophy Splayed fingers Radioulnar dislocation Microcephaly Cataract High palate Delayed speech and language development Fever Ventricular septal defect Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Intellectual disability, severe Broad first metatarsal Long upper lip Medial deviation of the foot Behavioral abnormality Proximal fibular overgrowth Abnormality of cardiovascular system morphology Absent speech Thrombocytopenia Advanced ossification of carpal bones Depressivity Patent ductus arteriosus Abnormal heart morphology Inguinal hernia Multiple carpal ossification centers Supernumerary metacarpal bones Hypoplastic vertebral bodies Dementia Hernia Basal ganglia calcification Low posterior hairline Right aortic arch Pierre-Robin sequence Truncus arteriosus Myelomeningocele Echolalia Abnormality of the endocrine system Pulmonary artery atresia Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Mood swings Impaired T cell function Meningocele Central nervous system degeneration Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Arteria lusoria Duodenal stenosis Aplasia of the thymus Psychotic episodes Conotruncal defect Giant platelets Retinal vascular tortuosity Paranoia Delusions Hearing abnormality Primary amenorrhea Psoriasiform dermatitis Open mouth Hallucinations Spina bifida Hypocalcemia Narrow palpebral fissure Purpura Holoprosencephaly Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Nasal speech Cholelithiasis Dysdiadochokinesis Rheumatoid arthritis Apathy Hypoparathyroidism Axonal loss Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Autoimmune hemolytic anemia Obsessive-compulsive behavior Open angle glaucoma Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Flattened epiphysis Round face Broad femoral neck Renal cell carcinoma Abnormality of the liver Infertility Joint hyperflexibility Hirsutism Hepatic steatosis Paraparesis Spastic paraparesis Pyloric stenosis Glucose intolerance Hypoplasia of the uterus Glycosuria Glomerulopathy Acute kidney injury Proportionate short stature Exocrine pancreatic insufficiency Jaundice Bicornuate uterus Maturity-onset diabetes of the young Biliary tract abnormality Ureteropelvic junction obstruction Pancreatic hypoplasia Uterus didelphys Renal Fanconi syndrome Reduced sperm motility Absent vas deferens Epididymal cyst Papillary cystadenoma of the epididymis Decreased numbers of nephrons Aplasia/Hypoplasia of the pancreas Abnormality of exocrine pancreas physiology Elevated hepatic transaminase Mandibular prognathia Atretic vas deferens Pain Hepatic cysts Polydactyly Neutropenia Preaxial polydactyly Sensorineural hearing impairment Tremor Cardiomyopathy Dilated cardiomyopathy Retinal degeneration Pancreatitis Arachnoid cyst Kinetic tremor Pancreatic cysts Chronic pancreatitis Hypotension Diabetes mellitus Hypercalciuria Glomerulosclerosis Polyuria Fair hair Hemihypertrophy Thin bony cortex Distal renal tubular acidosis Flank pain Global glomerulosclerosis Pyuria Impaired renal uric acid clearance Renal cortical atrophy Ataxia Abnormality of the dentition Abnormality of endocrine pancreas physiology Abnormality of alkaline phosphatase activity Coronal cleft vertebrae Microretrognathia Short distal phalanx of finger Abdominal distention Short metacarpal Waddling gait Nail dysplasia Wide intermamillary distance Depressed nasal ridge Osteoarthritis Bowing of the long bones Broad thumb Rhizomelia Coxa valga Joint dislocation Coxa vara Sandal gap Micromelia Disproportionate short-limb short stature Genu varum Short metatarsal Metaphyseal widening Short femoral neck Thoracic hypoplasia Congenital glaucoma Cystic hygroma Protuberant abdomen Irregular vertebral endplates Flat acetabular roof Generalized joint laxity Short 1st metacarpal Generalized osteoporosis Flat face Smooth philtrum Micrognathia Clinodactyly Depressed nasal bridge Motor delay Epicanthus Brachydactyly Myopia Macrocephaly Talipes equinovarus Anteverted nares Respiratory distress Edema Kyphosis Short nose Malar flattening Midface retrusion Severe short stature Narrow chest Osteoporosis Glaucoma Respiratory failure Narrow mouth Proptosis High forehead Kyphoscoliosis Osteopenia Skeletal dysplasia Pes planus Joint laxity Hyperlordosis Joint stiffness Platyspondyly Unilateral primary pulmonary dysgenesis



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