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.
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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
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
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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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
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
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
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
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
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
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Frontal bossing and Single transverse palmar crease, related diseases and genetic alterations
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