Arthritis, and Polycystic kidney dysplasia

Diseases related with Arthritis and Polycystic kidney dysplasia

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


Top 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 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 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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Other less relevant 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 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 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

Top 5 symptoms//phenotypes associated to Arthritis and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Renal cyst Very Common - Between 80% and 100% cases
Abnormality of the kidney Common - Between 50% and 80% cases
Gout Common - Between 50% and 80% cases
Renal insufficiency 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 Polycystic kidney dysplasia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Nephropathy

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Muscular hypotonia Global developmental delay Hypospadias Scoliosis Joint hyperflexibility Micrognathia Abnormal facial shape Horseshoe kidney Cleft palate Malar flattening Epicanthus Glaucoma Obesity Narrow mouth Hypothyroidism Immunodeficiency Talipes equinovarus Short neck Hyperechogenic kidneys Focal segmental glomerulosclerosis Tubulointerstitial abnormality Decreased glomerular filtration rate Cerebral cortical atrophy Hematuria Nephrolithiasis Polydipsia Postnatal growth retardation Tubulointerstitial fibrosis Dilatation Renal salt wasting Renal cortical cysts Multiple glomerular cysts Growth delay Tubular basement membrane disintegration Multiple small medullary renal cysts Renal corticomedullary cysts Generalized hypotonia Midface retrusion Short nose Uterus didelphys Kyphosis Renal Fanconi syndrome Reduced sperm motility Absent vas deferens Epididymal cyst Edema Respiratory distress Papillary cystadenoma of the epididymis Motor delay Anteverted nares Decreased numbers of nephrons Aplasia/Hypoplasia of the pancreas Ureteropelvic junction obstruction Abnormality of exocrine pancreas physiology Macrocephaly Abnormality of endocrine pancreas physiology Myopia Atretic vas deferens Abnormality of alkaline phosphatase activity Brachydactyly Depressed nasal bridge Pancreatic hypoplasia Renal dysplasia Biliary tract abnormality Renal agenesis Arachnoid cyst Kinetic tremor Pancreatic cysts Chronic pancreatitis Ataxia Diabetes mellitus Mandibular prognathia Jaundice Elevated hepatic transaminase Abnormality of the liver Infertility Hirsutism Hepatic steatosis Severe short stature Maturity-onset diabetes of the young Paraparesis Multicystic kidney dysplasia Spastic paraparesis Pyloric stenosis Unilateral renal agenesis Glucose intolerance Hypoplasia of the uterus Glycosuria Glomerulopathy Acute kidney injury Proportionate short stature Renal cell carcinoma Exocrine pancreatic insufficiency Bicornuate uterus Clinodactyly Osteoarthritis Osteoporosis Flattened epiphysis 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 Coronal cleft vertebrae Broad femoral neck Open angle glaucoma Hypoplastic vertebral bodies Short metatarsal Phalangeal dislocation Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Partial duplication of the distal phalanx of the hallux Vertebral clefting Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Advanced ossification of carpal bones Long upper lip Abnormality of the hand Genu varum Respiratory failure Short distal phalanx of finger Proptosis High forehead Kyphoscoliosis Osteopenia Skeletal dysplasia Pes planus Joint laxity Hyperlordosis Joint stiffness Platyspondyly Narrow chest Smooth philtrum Micromelia Flat face Abdominal distention Disproportionate short-limb short stature Broad thumb Sandal gap Microretrognathia Coxa vara Joint dislocation Coxa valga Rhizomelia Bowing of the long bones Round face Retinal degeneration Depressed nasal ridge Wide intermamillary distance Nail dysplasia Waddling gait Short metacarpal Pancreatitis Small earlobe Dilated cardiomyopathy Myalgia Microphthalmia Abnormality of cardiovascular system morphology Thrombocytopenia Depressivity Patent ductus arteriosus Inguinal hernia Constipation Upslanted palpebral fissure Autism Polyhydramnios Gastroesophageal reflux Umbilical hernia Conductive hearing impairment Anxiety Splenomegaly Telecanthus Feeding difficulties in infancy Autoimmunity Attention deficit hyperactivity disorder Short philtrum Prominent nasal bridge Carious teeth Anal atresia Arachnodactyly Long face Bulbous nose Asthma Vesicoureteral reflux Intestinal malrotation Long philtrum Intellectual disability, mild Specific learning disability Impaired renal uric acid clearance Hepatic cysts Pain Hypotension Hypercalciuria Glomerulosclerosis Polyuria Fair hair Hemihypertrophy Thin bony cortex Distal renal tubular acidosis Flank pain Global glomerulosclerosis Pyuria Renal cortical atrophy Behavioral abnormality Microcephaly Hypertelorism Failure to thrive Strabismus Cataract Cryptorchidism Ptosis Low-set ears Wide nasal bridge Optic atrophy Downslanted palpebral fissures Ventricular septal defect Hydrocephalus Atrial septal defect Gastrointestinal hemorrhage Tetralogy of Fallot Cardiomyopathy Retinal arteriolar tortuosity Abnormality of the uterus Corneal neovascularization Tetany Hypoplasia of the thymus Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Platybasia Arrhinencephaly Impaired T cell function Abnormal pulmonary valve morphology Anorectal anomaly Hypertensive crisis Atelectasis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Occipital myelomeningocele Cognitive impairment Recurrent infections Polydactyly Neutropenia Bifid uvula Preaxial polydactyly Velopharyngeal insufficiency Sensorineural hearing impairment Tremor Chronic obstructive pulmonary disease Varicose veins Choanal atresia Chronic otitis media Aganglionic megacolon Spina bifida Hypocalcemia Abnormality of dental enamel Purpura Hypopigmented skin patches Schizophrenia Laryngomalacia Nasal speech Cholelithiasis Hand polydactyly Abnormality of the thorax Overfolded helix Acne Abnormal eyelid morphology Dysphasia Bowel incontinence Hyperthyroidism Foot polydactyly Posterior embryotoxon Abnormal lung lobation Bipolar affective disorder Turricephaly Hypoparathyroidism Patellar dislocation Multiple renal cysts Abnormality of the skull Meningocele Truncus arteriosus Splayed fingers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Smooth philtrum, related diseases and genetic alterations

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