Arthritis, and Cerebral atrophy

Diseases related with Arthritis and Cerebral atrophy

In the following list you will find some of the most common rare diseases related to Arthritis and Cerebral 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 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

Mendelian

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

Learn more

Other less relevant matches:

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 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 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 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

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

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

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

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more