Arthritis, and Renal dysplasia

Diseases related with Arthritis and Renal dysplasia

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


Top matches:

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

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

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 10; BBS10


BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Renal insufficiency
  • Obesity
  • Rod-cone dystrophy
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 10; BBS10

Low match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

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

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3


Autosomal dominant spastic paraplegia type 3 is a rare, pure or complex subtype of hereditary spastic paraplegia, with highly variable phenotype, typically characterized by childhood-onset of minimally progressive, bilateral, mainly symmetric lower limb spasticity and weakness, associated with pes cavus, diminished vibration sense, sphincter disturbances and/or urinary bladder hyperactivity. Additional associated manifestations may include scoliosis, mild intellectual disability, optic atrophy, axonal motor neuropathy and/or distal amyotrophy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3 Is also known as strÜmpell disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Cataract
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 3

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match BRANCHIOOTORENAL SYNDROME 2; BOR2


Related symptoms:

  • Hearing impairment
  • Renal insufficiency
  • Renal agenesis
  • Renal hypoplasia
  • Renal dysplasia


SOURCES: OMIM MENDELIAN

More info about BRANCHIOOTORENAL SYNDROME 2; BOR2

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

Symptoms // Phenotype % cases
Renal agenesis Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Unilateral renal agenesis Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Renal hypoplasia Cognitive impairment Flexion contracture Intellectual disability Seizures Anemia Abnormality of the kidney Renal cyst Short stature Polydactyly Hypothyroidism Renal insufficiency Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Spina bifida Tetralogy of Fallot Low posterior hairline Primary amenorrhea Purpura Hypocalcemia Peripheral demyelination Bicuspid aortic valve Arnold-Chiari malformation Schizophrenia Nasal speech Cholelithiasis Thrombocytopenia Underdeveloped nasal alae Amenorrhea Specific learning disability Retrognathia Chorea Bifid uvula Hemolytic anemia Bulbous nose Patent ductus arteriosus Psoriasiform dermatitis Autoimmunity Abnormal heart morphology Blepharophimosis Inguinal hernia Abnormality of the pinna Umbilical hernia Rheumatoid arthritis Hypoparathyroidism Acne Microtia Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Sacral meningocele Hydronephrosis Rod-cone dystrophy Duodenal stenosis Hypogonadism Macular dystrophy Growth delay Motor delay Oligohydramnios Potter facies Retinal vascular tortuosity Impaired T cell function Hypoplasia of the brainstem Recurrent infections Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Meningocele Right aortic arch Truncus arteriosus Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Abnormality of cardiovascular system morphology Myelomeningocele Immunodeficiency Ventricular septal defect Muscular hypotonia Cleft palate Microcephaly Generalized hypotonia Multicystic kidney dysplasia Cataract High palate Delayed speech and language development Hypospadias Scoliosis Fever Behavioral abnormality Short neck Elevated serum creatinine Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Ataxia Abnormal facial shape Polyneuropathy Abnormality of the dentition Progressive muscle weakness Small for gestational age Abnormal renal corticomedullary differentiation Postnatal growth retardation Respiratory distress Intrauterine growth retardation Cerebellar hypoplasia Talipes equinovarus Syndactyly Clinodactyly Clinodactyly of the 5th finger Diabetes mellitus Arthrogryposis multiplex congenita Toe syndactyly Talipes Single transverse palmar crease Finger clinodactyly Microretrognathia 2-3 toe syndactyly Cystic hygroma Hypertension Elevated hepatic transaminase Visual impairment Esophoria Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Hypoplasia of the thymus Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Accommodative esotropia Feeding difficulties Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Proteinuria Redundant neck skin Jaundice Retinal dystrophy Mandibular prognathia Cerebral cortical atrophy Muscle weakness Pain Broad palm Short nose Hydranencephaly Distal lower limb amyotrophy Postaxial polydactyly Bradykinesia Frequent falls Lower limb spasticity Spastic gait Cone/cone-rod dystrophy Impaired vibratory sensation Toe walking Urinary urgency Lower limb hyperreflexia Ankle clonus Distal lower limb muscle weakness Babinski sign Cystic renal dysplasia Lower limb hypertonia Hydrometrocolpos Hyperesthesia Falls Redundant skin Bilateral renal agenesis Preauricular skin tag Preauricular pit Severe hearing impairment Hemifacial hypoplasia Rigidity Gait disturbance Narrow nasal ridge Abnormal blistering of the skin Limb joint contracture Ureteral agenesis Failure to thrive Dysphagia Broad thumb Respiratory failure Polyhydramnios Deeply set eye Sepsis Limitation of joint mobility Premature birth Dehydration Dysarthria Abnormality of the outer ear Glomerulosclerosis Skin vesicle Fragile skin Aplasia cutis congenita Skin erosion Oral mucosal blisters Ureterocele Abnormality of the stomach Aplasia of the bladder Congenital pyloric atresia Peripheral neuropathy Amblyopia Attention deficit hyperactivity disorder Short palpebral fissure Ureteropelvic junction obstruction Absent vas deferens Multiple glomerular cysts Renal cortical cysts Abnormality of the hand Reduced sperm motility Renal Fanconi syndrome Dysdiadochokinesis Uterus didelphys Pancreatic hypoplasia Apathy Obsessive-compulsive behavior Biliary tract abnormality Epididymal cyst Maturity-onset diabetes of the young Myopathic facies Abnormality of the ear Basal ganglia calcification Bicornuate uterus Axonal loss Submucous cleft hard palate Anal stenosis Gout Exocrine pancreatic insufficiency Renal cell carcinoma Holoprosencephaly Narrow palpebral fissure Hearing abnormality Congenital cataract Absent speech Cerebellar atrophy Hernia Intellectual disability, severe Depressivity Dementia Hyperactivity Conductive hearing impairment Anxiety Aggressive behavior Mental deterioration Pulmonic stenosis Papillary cystadenoma of the epididymis Anal atresia Dysmetria Vesicoureteral reflux Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Psychosis Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Open mouth Hallucinations Decreased numbers of nephrons Proportionate short stature Acute kidney injury Coarctation of aorta Microphthalmia Stage 5 chronic kidney disease Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Hypertelorism Neoplasm Micrognathia Strabismus Ptosis Low-set ears Joint hyperflexibility Hypertonia Narrow mouth Congenital conductive hearing impairment Infertility Telecanthus Cleft lip Craniosynostosis Short philtrum Abnormality of the liver Generalized tonic-clonic seizures Astigmatism Polymicrogyria Iris coloboma High, narrow palate Hirsutism Perineal fistula Delusions Chronic kidney disease Pierre-Robin sequence Hyperuricemia Glomerulopathy Echolalia Abnormality of the endocrine system Pulmonary artery atresia Glycosuria Hypoplasia of the uterus Glucose intolerance Polydipsia Pyloric stenosis Platybasia Vascular ring Mood swings Spastic paraparesis Paraparesis Paranoia Horseshoe kidney Giant platelets Velopharyngeal insufficiency Nephrolithiasis Psychotic episodes Hepatic steatosis Nephropathy Central nervous system degeneration Bilateral renal dysplasia



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