Arthritis, and Renal agenesis

Diseases related with Arthritis and Renal agenesis

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


Top matches:

Low match EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY


Ehlers-Danlos syndrome due to tenascin-X deficiency is a type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia.

EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY Is also known as eds, classic-like type|ehlers-danlos syndrome, classic-like type|ehlers-danlos syndrome due to tenascin-x deficiency|eds due to tnx deficiency|tnx deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY

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 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

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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 DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

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 MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low 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

Low match DIAMOND-BLACKFAN ANEMIA 11; DBA11


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Anemia
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 11; DBA11

Low match MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME


MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).

MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia|march syndrome

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME

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

Symptoms // Phenotype % cases
Renal hypoplasia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Spina bifida Renal cyst Intellectual disability Unilateral renal agenesis Vesicoureteral reflux Joint hyperflexibility Atrial septal defect Scoliosis Hypothyroidism Tetralogy of Fallot Global developmental delay Renal dysplasia Abnormality of the kidney Conductive hearing impairment Umbilical hernia Stage 5 chronic kidney disease Retrognathia Nephropathy Hypospadias Renal insufficiency Muscular hypotonia Autoimmunity Inguinal hernia Gout Micrognathia Strabismus Microcephaly Abnormal facial shape Ventricular septal defect Short neck Hydrocephalus Abnormal heart morphology Behavioral abnormality Hyperuricemia Immunodeficiency Abnormality of cardiovascular system morphology Thrombocytopenia Obesity Chronic kidney disease Patent ductus arteriosus Bulbous nose Hypertelorism Posterior embryotoxon Nasal speech Cholelithiasis Psoriasiform dermatitis Rheumatoid arthritis Impaired T cell function Bifid uvula Bipolar affective disorder Bicuspid aortic valve Hypoparathyroidism Seborrheic dermatitis Meningocele Talipes equinovarus Truncus arteriosus Pain Schizophrenia Acne Specific learning disability Hypocalcemia Purpura

Rare Symptoms - Less than 30% cases


Retinal vascular tortuosity Primary amenorrhea Hypoplasia of the corpus callosum Conotruncal defect Vitiligo Fever Delayed speech and language development High palate Cataract Cognitive impairment Autoimmune thrombocytopenia Hemolytic anemia Low posterior hairline Aplasia of the thymus Juvenile rheumatoid arthritis Tubular atrophy Amenorrhea Tubulointerstitial fibrosis Aplasia of the uterus Interrupted aortic arch Graves disease Sacral meningocele Anxiety Abnormality of the pinna Blepharophimosis Right aortic arch with mirror image branching Failure to thrive Duodenal stenosis Pulmonic stenosis Posteriorly rotated ears Right aortic arch Arnold-Chiari malformation Arteria lusoria Hypoplasia of the brainstem Inflammation of the large intestine Depressivity Anal atresia Platybasia Perimembranous ventricular septal defect Recurrent infections Autoimmune hemolytic anemia Chorea Renal cortical cysts Myelomeningocele Intestinal malrotation Nephrolithiasis Tetany Proteinuria Hypoplasia of the thymus Cerebral cortical atrophy Ptosis Oligohydramnios Hypertension Polydipsia Bicornuate uterus Polycystic kidney dysplasia Mitral valve prolapse Gastrointestinal hemorrhage Single transverse palmar crease Arachnodactyly Myalgia Hernia Multicystic kidney dysplasia Abnormality of the dentition Telecanthus Flexion contracture Hydronephrosis Attention deficit hyperactivity disorder Elevated serum creatinine Abnormal eyelid morphology Narrow mouth Microphthalmia Short philtrum Low-set ears Pneumonia Pes planus Short distal phalanx of finger Genu valgum Frontal bossing Facial asymmetry Tricuspid valve prolapse Prune belly Narrow chest Hip dislocation Abnormal cardiac septum morphology Respiratory tract infection Abnormality of the skeletal system Skeletal dysplasia Recurrent respiratory infections Respiratory insufficiency Pectus excavatum Ureteral stenosis Sclerosis of skull base Long neck Kyphoscoliosis High forehead Macrotia Short humerus Proptosis Prominent forehead Delayed cranial suture closure Atrioventricular canal defect Delayed eruption of teeth Osteolytic defects of the phalanges of the hand Hypoplastic scapulae Ectopic kidney Short thorax Flared metaphysis Melanocytic nevus Long fingers Prominent supraorbital ridges Coarse hair Misalignment of teeth Coxa valga Hoarse voice Cone-shaped epiphyses of the phalanges of the hand Wide anterior fontanel Limited elbow extension Hypoplastic pelvis Complete atrioventricular canal defect Abnormality of the ribs Thoracic hypoplasia Full cheeks Nevus Craniofacial hyperostosis Tibial bowing Growth hormone deficiency Pulmonary arterial hypertension Bowing of the long bones Osteoarthritis Recurrent otitis media Small face Abnormality of the metaphysis Abnormal cortical bone morphology Omphalocele Short clavicles Muscle weakness Urethral atresia Tricuspid atresia Hypoplasia of the ulna Radioulnar synostosis Atresia of the external auditory canal Hypoplasia of the radius Bone marrow hypocellularity Neutropenia Growth delay Occipital myelomeningocele Abnormality of the tonsils Multiple suture craniosynostosis Macrocytic anemia Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Absent thumb Stenosis of the external auditory canal Abnormality of the uterus Pulmonary hypoplasia Potter facies Limb joint contracture Narrow nasal ridge Hydranencephaly Redundant neck skin Broad palm Cystic hygroma 2-3 toe syndactyly Microretrognathia Finger clinodactyly Talipes Increased mean corpuscular volume Toe syndactyly Arthrogryposis multiplex congenita Polydactyly Cerebellar hypoplasia Clinodactyly of the 5th finger Clinodactyly Syndactyly Forearm reduction defects Reticulocytopenia Anemia of inadequate production Corneal neovascularization Chronic obstructive pulmonary disease Megacystis Optic atrophy Autism Glaucoma Upslanted palpebral fissure Constipation Malar flattening Long philtrum Splenomegaly Intellectual disability, mild Downslanted palpebral fissures Intrauterine growth retardation Gastroesophageal reflux Wide nasal bridge Epicanthus Cryptorchidism Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Polyhydramnios Feeding difficulties in infancy Atelectasis Chronic otitis media Varicose veins Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Overfolded helix Prominent nasal bridge Abnormality of the thorax Hand polydactyly Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Choanal atresia Asthma Long face Carious teeth Gait disturbance Hyperechogenic kidneys Motor delay Exocrine pancreatic insufficiency Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Renal cell carcinoma Absent vas deferens Proportionate short stature Acute kidney injury Glomerulopathy Glycosuria Hypoplasia of the uterus Glucose intolerance Pyloric stenosis Spastic paraparesis Multiple glomerular cysts Epididymal cyst Horseshoe kidney Absent speech Underdeveloped nasal alae Dysmetria Congenital cataract Mental deterioration Aggressive behavior Hyperactivity Dementia Cerebellar atrophy Papillary cystadenoma of the epididymis Intellectual disability, severe Generalized hypotonia Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Paraparesis Hepatic steatosis Psychosis Joint hypermobility Atrophic scars Hyperextensible skin Spina bifida occulta Thin skin Ambiguous genitalia Sensory neuropathy Bruising susceptibility Stroke Adrenal hypoplasia Scarring Joint laxity Proximal muscle weakness Arthralgia Arrhythmia Fatigue Skeletal muscle atrophy Peripheral neuropathy Soft skin Hiatus hernia Hirsutism Premature arteriosclerosis Infertility Abnormality of the liver Elevated hepatic transaminase Jaundice Mandibular prognathia Diabetes mellitus Ataxia Quadricuspid aortic valve Ambiguous genitalia, female Adrenal hyperplasia Congenital adrenal hyperplasia Arteriosclerosis Rectal prolapse Poor wound healing Muscle fiber splitting Increased connective tissue Precocious atherosclerosis Proximal amyotrophy Peripheral demyelination Open mouth Renal cortical atrophy Vascular tortuosity Hematuria Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Abnormality of the thymus Hypercalciuria Abnormality of the middle ear Perisylvian polymicrogyria Alcoholism Femoral hernia Anterior segment developmental abnormality Sclerocornea Exotropia Amblyopia Hypotension Glomerulosclerosis Short palpebral fissure Tubulointerstitial abnormality Impaired renal uric acid clearance Pyuria Global glomerulosclerosis Tubular basement membrane disintegration Multiple small medullary renal cysts Renal corticomedullary cysts Flank pain Distal renal tubular acidosis Nephritis Decreased glomerular filtration rate Thin bony cortex Hemihypertrophy Renal salt wasting Fair hair Tubulointerstitial nephritis Nephronophthisis Polyuria Broad thumb Coarctation of aorta Hallucinations Axonal loss Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Submucous cleft hard palate Basal ganglia calcification Mood swings Abnormality of the ear Myopathic facies Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Narrow palpebral fissure Pulmonary artery atresia Paranoia High, narrow palate Neoplasm Iris coloboma Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Craniosynostosis Cleft lip Hypertonia Focal segmental glomerulosclerosis Giant platelets Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Ureteral agenesis



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