Arthritis, and Psychosis

Diseases related with Arthritis and Psychosis

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


Top matches:

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

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

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Other less relevant matches:

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 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 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 SCHIZOPHRENIA 19; SCZD19


SCHIZOPHRENIA 19; SCZD19 Is also known as schizophrenia 19 with or without an affective disorder

Related symptoms:

  • Behavioral abnormality
  • Psychosis
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 19; SCZD19

Low match EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5


Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Low match SCHIZOPHRENIA 15; SCZD15


SCHIZOPHRENIA 15; SCZD15 Is also known as schizophrenia 15 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 22q13-related

Related symptoms:

  • Intellectual disability
  • Seizures
  • Intellectual disability, mild
  • Depressivity
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 15; SCZD15

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Top 5 symptoms//phenotypes associated to Arthritis and Psychosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Global developmental delay Behavioral abnormality Muscular hypotonia Hydrocephalus Hemolytic anemia Schizophrenia Generalized hypotonia Abnormal facial shape Growth delay Dementia Delayed speech and language development Anxiety Aggressive behavior Hearing impairment Confusion Mental deterioration Intellectual disability, severe Rheumatoid arthritis Cataract Pancytopenia Ataxia Failure to thrive

Rare Symptoms - Less than 30% cases


Difficulty walking Patellar dislocation Abnormal heart morphology Paresthesia Acidosis Scoliosis Abnormality of the cerebral white matter Proteinuria Developmental regression Short neck Cerebellar atrophy Hepatosplenomegaly Hepatic steatosis Weight loss Skin rash Hallucinations Splenomegaly Immunodeficiency Recurrent infections Tremor Dysarthria Hepatomegaly Joint hypermobility Apathy Progressive neurologic deterioration Intellectual disability, mild Muscle weakness Nystagmus Microcephaly Low-set ears Mandibular prognathia High palate Coarse facial features Gait ataxia Broad forehead Neurological speech impairment Spasticity Macrotia Feeding difficulties Congenital cataract Hypoparathyroidism Retinal degeneration Optic atrophy Macrocephaly Myopia Abnormality of the hand Epicanthus Hernia Feeding difficulties in infancy Lethargy Decreased methionine synthase activity Memory impairment Neutropenia Autoimmunity Midface retrusion Fatigue Aciduria Short stature Cystathioninemia Cystathioninuria Decreased adenosylcobalamin Leukopenia Peripheral demyelination Decreased methylcobalamin Hyperhomocystinemia Methylmalonic acidemia Homocystinuria Methylmalonic aciduria Juvenile rheumatoid arthritis Megaloblastic anemia Abnormality of the skin Purpura Cerebral atrophy Dysmetria Autoimmune hemolytic anemia Umbilical hernia Inguinal hernia Delusions Hyperactivity Bipolar affective disorder Aseptic necrosis Autoimmune thrombocytopenia Talipes equinovarus Abnormality of the skeletal system Frontal bossing Gait disturbance Pulmonary artery atresia Ventriculomegaly Skeletal muscle atrophy Unilateral renal agenesis Hyperreflexia Motor delay Depressed nasal bridge Pain Vitiligo Delayed skeletal maturation Myopathy Malar flattening Truncus arteriosus Dysdiadochokinesis Pierre-Robin sequence Psoriasiform dermatitis Echolalia Areflexia Obsessive-compulsive behavior Nasal speech Kyphosis Abnormality of the endocrine system Meningocele Hearing abnormality Abnormality of the dentition Strabismus Sensorineural hearing impairment Hypertelorism Aplasia of the uterus Myopathic facies Impaired T cell function Hypoplasia of the brainstem Right aortic arch Mood swings Inflammation of the large intestine Platybasia Submucous cleft hard palate Abnormality of the ear Paranoia Perimembranous ventricular septal defect Basal ganglia calcification Interrupted aortic arch Axonal loss Arnold-Chiari malformation Graves disease Cholelithiasis Duodenal stenosis Retinal vascular tortuosity Unilateral primary pulmonary dysgenesis Seborrheic dermatitis Posterior embryotoxon Anal stenosis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Acne Central nervous system degeneration Myelomeningocele Aplasia of the thymus Psychotic episodes Conotruncal defect Velopharyngeal insufficiency Giant platelets Arteria lusoria Gingival overgrowth Babinski sign Cranial hyperostosis Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Vacuolated lymphocytes Decreased pulmonary function Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Hydrocele testis Generalized abnormality of skin Hypoplastic inferior ilia Impaired smooth pursuit Autism Cortical tubers Patellar subluxation Megalencephaly Scaphocephaly Abnormality of the musculature Celiac disease Pointed chin Astigmatism Dolichocephaly Intellectual disability, moderate Personality disorder Abnormality of the ilium Status epilepticus Focal-onset seizure Generalized tonic-clonic seizures Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Dysostosis multiplex Severe sensorineural hearing impairment Recurrent respiratory infections Highly arched eyebrow Optic disc pallor Hip dysplasia Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Macroglossia Neurodegeneration Thick eyebrow Depressed nasal ridge Genu valgum Abnormality of the foot Hypermetropia Corneal opacity Pectus carinatum Respiratory tract infection Skeletal dysplasia Osteopenia Kyphoscoliosis Prominent forehead Type II diabetes mellitus Hypertrichosis Limb dystonia Chronic otitis media Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Prominent supraorbital ridges Bowing of the long bones Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Holoprosencephaly Amblyopia Tall stature Bicuspid aortic valve Diffuse hepatic steatosis Narrow palpebral fissure Cholestasis Spontaneous abortion Muscle stiffness Increased body weight Bone pain Decreased liver function Nephrolithiasis Involuntary movements Clumsiness Osteoarthritis Nephrocalcinosis Hepatitis Ascites Coma Polyneuropathy Bruising susceptibility Hepatic failure Cirrhosis Nausea Peripheral axonal neuropathy Aminoaciduria Leukoencephalopathy Infertility Abnormality of blood and blood-forming tissues Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hepatocellular carcinoma Joint swelling Arthropathy Drooling Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Hypercalciuria Back pain Poor speech Nausea and vomiting Menstrual irregularities Inflammatory abnormality of the skin Pericarditis Abnormality of the thyroid gland Increased antibody level in blood Abnormality of coagulation Glomerulonephritis Nephritis Systemic lupus erythematosus Vasculitis Cutaneous photosensitivity Epiphyseal stippling Alopecia Megaloblastic bone marrow Glossitis Stomatitis Macrocytic anemia Incoordination Small for gestational age Microtia Thin upper lip vermilion Thyroiditis Hashimoto thyroiditis Pruritus Edema Abnormality of the liver Abnormality of the nervous system Elevated hepatic transaminase Rigidity Jaundice Arthralgia Osteoporosis Dystonia Vomiting Dysphagia Gangrene Peripheral neuropathy Neoplasm Serositis Malar rash Complement deficiency Antiphospholipid antibody positivity Pleuritis Antinuclear antibody positivity Raynaud phenomenon Neoplasm of the liver Proximal muscle weakness in lower limbs Multicystic kidney dysplasia Cleft palate Hypospadias Obesity Absent speech Abnormality of cardiovascular system morphology Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Fever Thyroglossal cyst Posteriorly rotated ears Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Vitamin B12 deficiency Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Atrophy of the spinal cord Hemolytic-uremic syndrome Patent ductus arteriosus Hypothyroidism Gastritis Renal agenesis Hypocalcemia Spina bifida Renal dysplasia Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Amenorrhea Specific learning disability Underdeveloped nasal alae Retrognathia Vesicoureteral reflux Chorea Bifid uvula Bulbous nose Anal atresia Pulmonic stenosis Blepharophimosis Abnormality of the pinna Conductive hearing impairment Right ventricular failure Myelopathy Retinoblastoma Visual impairment Retinopathy High forehead Reduced visual acuity Cerebral cortical atrophy Renal insufficiency Congestive heart failure Respiratory insufficiency Hypertension Atypical or prolonged hepatitis Malabsorption 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 Hip dislocation Lower limb muscle weakness Cor pulmonale Broad-based gait Thromboembolism Disproportionate tall stature Ectopia lentis Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Smooth philtrum Abnormality of extrapyramidal motor function Pigmentary retinopathy Urinary incontinence Metabolic acidosis Hematuria Nephropathy Long face Abnormality of skin pigmentation Unsteady gait Adrenal medullary hypoplasia



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

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