Arthritis, and Brain atrophy

Diseases related with Arthritis and Brain atrophy

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


Top matches:

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 MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY


Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

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 B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Top 5 symptoms//phenotypes associated to Arthritis and Brain atrophy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Brain atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia Seizures Aggressive behavior Hypertension Cognitive impairment Hyperreflexia Dysarthria Cerebral cortical atrophy Proteinuria Anxiety Depressivity Mental deterioration Infertility Gait disturbance Tremor Psychosis Abnormality of the cerebral white matter Thrombocytopenia Delayed speech and language development Abnormal facial shape Dysphagia Low-set ears Motor delay Babinski sign Nephropathy Short neck Neurodegeneration Recurrent infections Abnormality of the dentition Inguinal hernia Progressive neurologic deterioration Muscular hypotonia Nystagmus Nephrolithiasis Weight loss Confusion Gout Gait ataxia Renal insufficiency Mandibular prognathia Intellectual disability, mild Hepatic steatosis Dementia Neoplasm Generalized hypotonia Splenomegaly

Rare Symptoms - Less than 30% cases


Umbilical hernia Kyphoscoliosis Pain Bronchitis Personality changes Slurred speech Delayed skeletal maturation Schizophrenia Involuntary movements Broad-based gait Type II diabetes mellitus Gliosis Rheumatoid arthritis Areflexia Sensorineural hearing impairment Difficulty walking Hemolytic anemia Joint hypermobility Paresthesia Glycosuria Poor speech Proportionate short stature Hepatosplenomegaly Hirsutism Cerebral atrophy Vomiting Hepatomegaly Spasticity Epididymal cyst Failure to thrive Otitis media Joint hyperflexibility Visual impairment Hypermetropia Peripheral neuropathy Optic atrophy Respiratory insufficiency Immunodeficiency Neurological speech impairment Abnormality of the hand Nephrocalcinosis Abnormality of the liver Drooling Dental malocclusion Short stature Hypospadias Hypothyroidism Jaundice Elevated hepatic transaminase Progressive cerebellar ataxia Clumsiness Abnormality of the skeletal system Feeding difficulties in infancy Polydipsia Hydrocephalus Renal cortical cysts Strabismus Osteoarthritis Genu valgum Hip dislocation Pectus carinatum Macrotia Clinodactyly Chronic kidney disease Hyperuricemia Elevated serum creatinine Malar flattening Frontal bossing Macrocephaly Hypertelorism Malabsorption Pancytopenia Smooth philtrum Retinal degeneration Hypercalciuria Intellectual disability, severe Renal hypoplasia Diabetes mellitus Cerebellar atrophy Microcephaly Stage 5 chronic kidney disease Abnormality of the kidney Cataract Renal cyst Ventriculomegaly Dystonia Hyperactivity Hematuria Enlarged joints Rigidity Muscle weakness Behavioral abnormality Coarctation of aorta Apraxia Methylmalonic acidemia Microdontia Hypoplasia of penis Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Urogenital fistula Clubbing Decreased methylcobalamin Hyperhomocystinemia Decreased adenosylcobalamin Impulsivity Language impairment Hemolytic-uremic syndrome Interphalangeal joint contracture of finger Finger clinodactyly Generalized hirsutism Short thumb Myelopathy Long eyelashes Broad thumb Gastritis Recurrent otitis media Short palpebral fissure Trigonocephaly Right ventricular failure Abnormality of the fingernails Nasal speech Low posterior hairline Abnormality of the voice Homocystinuria Atrophy of the spinal cord Decreased methionine synthase activity Thin vermilion border Vitamin B12 deficiency Upslanted palpebral fissure Intellectual disability, moderate Telecanthus Joint laxity Hydronephrosis Conductive hearing impairment Deeply set eye Thin upper lip vermilion Brachydactyly Gastroesophageal reflux Posteriorly rotated ears Joint stiffness Constipation Clinodactyly of the 5th finger High pitched voice Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Headache Wide nasal bridge Intrauterine growth retardation Postnatal growth retardation Wide mouth Cystathioninuria Bulbous nose Underdeveloped nasal alae Hypomethioninemia Prominent nose Broad nasal tip Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Decreased methylmalonyl-CoA mutase activity Atrial septal defect Craniosynostosis Diffuse hepatic steatosis Small for gestational age Prominent nasal bridge Short philtrum Camptodactyly of finger Cystathioninemia Thyroglossal cyst Micrognathia Cryptorchidism High palate Preauricular pit Kyphosis Celiac disease Open bite Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Reduced ejection fraction Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Hydrocele testis Abnormality of the helix Amblyopia Spondylolysis Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Oligosacchariduria Spondylolisthesis Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Gingival overgrowth Tall stature Short clavicles Spinal dysraphism Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Stiff neck Scoliosis Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia 11 pairs of ribs Villous atrophy Enuresis Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Mesocardia Depressed nasal bridge Bowing of the long bones Corneal opacity Hypertrichosis Depressed nasal ridge Optic disc pallor Peripheral demyelination Hip dysplasia Decreased antibody level in blood Delayed myelination Macroglossia Highly arched eyebrow Thick eyebrow Dysmetria Abnormality of the foot Broad forehead Epicanthus Respiratory tract infection Coarse facial features Skeletal dysplasia Osteopenia Prominent forehead Recurrent respiratory infections Hernia Midface retrusion Cor pulmonale Myopathy Talipes equinovarus Skeletal muscle atrophy Myopia Methylmalonic aciduria Pathologic fracture Megaloblastic anemia Visual loss Decreased nerve conduction velocity Recurrent upper respiratory tract infections Sensorimotor neuropathy Progressive muscle weakness Progressive visual loss Tetraplegia Neonatal hypotonia Pneumonia Elevated serum creatine phosphokinase Hyporeflexia Absent speech Low frustration tolerance Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Arnold-Chiari type I malformation Pancreatic fibrosis Restlessness Hypoplasia of the uterus Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Exocrine pancreatic insufficiency Renal cell carcinoma Acute kidney injury Glomerulopathy Glucose intolerance Muscle mounding Unilateral renal agenesis Pyloric stenosis Spastic paraparesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Renal dysplasia Renal agenesis Spinal cord posterior columns myelin loss Parietal cortical atrophy Increased urinary hypoxanthine Upper limb undergrowth Cerebellar vermis atrophy Reduced sperm motility Tubulointerstitial fibrosis Impaired renal uric acid clearance Pyuria Global glomerulosclerosis Tubular basement membrane disintegration Multiple small medullary renal cysts Renal corticomedullary cysts Flank pain Tubulointerstitial abnormality Distal renal tubular acidosis Decreased glomerular filtration rate Thin bony cortex Obesity Hemihypertrophy Tubular atrophy Renal salt wasting Fair hair Tubulointerstitial nephritis Nephronophthisis Polyuria Nephritis Glomerulosclerosis Polycystic kidney dysplasia Hypotension Renal cortical atrophy Pectus excavatum Muscle fibrillation Abnormality of movement Hypokinesia Akinesia Obsessive-compulsive behavior Incoordination Hyperkinesis Generalized-onset seizure Bradykinesia Neuronal loss in central nervous system Chorea Abnormal cerebellum morphology Falls Abnormality of eye movement Agenesis of corpus callosum Cough Irritability Myoclonus Multiple epiphyseal dysplasia Molar tooth sign on MRI Epiphyseal dysplasia Joint dislocation Lymphedema Abnormality of epiphysis morphology Finger syndactyly Polyhydramnios Renal Fanconi syndrome Multiple glomerular cysts Thromboembolism Retinoblastoma Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Proximal muscle weakness in lower limbs Congestive heart failure Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Hepatocellular carcinoma Feeding difficulties Reduced visual acuity Abnormality of blood and blood-forming tissues Memory impairment Disproportionate tall stature Apathy Ectopia lentis Hemiplegia Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Pigmentary retinopathy Aciduria Acidosis Urinary incontinence Neutropenia Metabolic acidosis Long face Abnormality of skin pigmentation Unsteady gait Lower limb muscle weakness Congenital cataract Lethargy Retinopathy High forehead Joint swelling Arthropathy Absent vas deferens Hyperthyroidism Fatigue Non-Hodgkin lymphoma Lung adenocarcinoma Lymphocytosis Cellular immunodeficiency Chronic lymphatic leukemia Lymphoproliferative disorder B-cell lymphoma Acute leukemia Hodgkin lymphoma Systemic lupus erythematosus Osteoporosis Lymphoma Lymphadenopathy Leukemia Autoimmunity 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 Papillary cystadenoma of the epididymis Edema Arthralgia Osteomalacia Decreased liver function Global brain atrophy Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Back pain Leukoencephalopathy Leukopenia Aminoaciduria Spontaneous abortion Muscle stiffness Increased body weight Bone pain Cholestasis Abnormality of the nervous system Hepatitis Ascites Coma Polyneuropathy Bruising susceptibility Hepatic failure Cirrhosis Nausea Peripheral axonal neuropathy Nausea and vomiting Pruritus Spinocerebellar tract disease in lower limbs



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more