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:
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
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
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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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
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
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
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
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
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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