Cognitive impairment, and Rheumatoid arthritis

Diseases related with Cognitive impairment and Rheumatoid arthritis

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Rheumatoid arthritis that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium 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

Medium match FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

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Other less relevant matches:

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Medium 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

Low match LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Top 5 symptoms//phenotypes associated to Cognitive impairment and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autoimmunity Behavioral abnormality Dementia Weight loss Immunodeficiency Ataxia Hydrocephalus Delayed speech and language development Global developmental delay Hearing impairment Juvenile rheumatoid arthritis Thrombocytopenia Alopecia Intellectual disability Hypocalcemia Subcutaneous nodule Depressivity Pain Recurrent infections Irritability Neoplasm Chorea Schizophrenia Migraine Malabsorption Diarrhea Dilatation Autoimmune hemolytic anemia Fatigue Abnormality of cardiovascular system morphology Inflammation of the large intestine Acne Umbilical hernia Purpura Autoimmune thrombocytopenia Inguinal hernia Vasculitis Hemolytic anemia

Rare Symptoms - Less than 30% cases


Arnold-Chiari malformation Renal insufficiency Headache Cholelithiasis Nasal speech Confusion Bicuspid aortic valve Renal dysplasia Peripheral demyelination Primary amenorrhea Low posterior hairline Hemiparesis Hallucinations Hypospadias Tetralogy of Fallot Spina bifida Abnormal bleeding Psoriasiform dermatitis Bipolar affective disorder Seborrheic dermatitis Nephropathy Myelomeningocele Truncus arteriosus Meningocele Hypoparathyroidism Vitiligo Bruising susceptibility Narrow mouth Posterior embryotoxon Psychomotor deterioration Telecanthus High, narrow palate Sensorineural hearing impairment Unilateral renal agenesis Specific learning disability Amenorrhea Blepharophimosis Renal agenesis Meningitis Retinopathy Cleft palate Abnormal facial shape Otitis media Scoliosis Microcephaly Generalized hypotonia Telangiectasia Gingivitis Pneumonia Periodontitis Vertigo Recurrent bacterial infections Recurrent skin infections Encephalitis Cellulitis Epididymitis Cataract High palate Ventricular septal defect Bifid uvula Patent ductus arteriosus Bulbous nose Glaucoma Abnormality of the pinna Retrognathia Hypothyroidism Posteriorly rotated ears Abnormal heart morphology Myelopathy Obesity Hemoptysis Intellectual disability, severe Atrial septal defect Hypoplasia of the corpus callosum Flexion contracture Ptosis Short neck Hypertelorism Aplasia of the uterus Joint stiffness Paresthesia Graves disease Gait disturbance Arteria lusoria Interrupted aortic arch Paranoia Hypertension Gliosis Right aortic arch with mirror image branching Sacral meningocele Dysarthria Bronchitis Tremor Gangrene Conotruncal defect Cerebellar atrophy Obsessive-compulsive behavior Hyperactivity Anxiety Aggressive behavior Mental deterioration Pleuritis Cough Aseptic necrosis Neuronal loss in central nervous system Aplasia of the thymus Hyperreflexia Pericarditis Retinal vascular tortuosity Splenomegaly Memory impairment Right aortic arch Abnormality of the skin Impaired T cell function Skin rash Respiratory insufficiency Duodenal stenosis Failure to thrive Nystagmus Raynaud phenomenon Arthralgia Perimembranous ventricular septal defect Psychosis Hematochezia Abnormally large globe Parathyroid agenesis Varicose veins Cigarette-paper scars Aplasia/Hypoplasia of the earlobes Transient ischemic attack Arteriovenous fistula Osteolytic defects of the phalanges of the hand Reduced consciousness/confusion Type I truncus arteriosus Aortic dissection Dermal translucency Abnormal pupil morphology Ocular pain Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Abnormal oral frenulum morphology Abnormality of the gingiva Colonic diverticula Internal hemorrhage Arterial stenosis Aplasia/Hypoplasia of the abdominal wall musculature Premature loss of primary teeth Periorbital edema Pneumothorax Decreased circulating parathyroid hormone level Bladder diverticulum Gastrointestinal infarctions Parathyroid hypoplasia Arterial dissection Keratoconus Narrow nose Recurrent bacterial skin infections Short chin Joint dislocation Congenital hip dislocation Cardiac arrest Gingival overgrowth Abnormality of the face Peritonitis Thin skin Abnormal thrombocyte morphology Osteoarthritis Abnormal intestine morphology Blue sclerae Mitral valve prolapse Microdontia Rectal abscess Decreased platelet glycoprotein IIb-IIIa Premature birth Severe periodontitis Abnormal granulocyte morphology Recurrent staphylococcal infections Flat face Osteolysis Sleep apnea Abnormal eyelash morphology Abnormal joint morphology Subarachnoid hemorrhage Epistaxis Leukocytosis Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Sprengel anomaly Esophageal atresia Prematurely aged appearance Scleroderma Fragile skin Tinnitus Abnormal heart valve morphology Telangiectasia of the skin Narrow nasal bridge Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Aortic aneurysm Redundant skin Hypokalemia Abnormality of the urinary system Absent earlobe Abnormality of the thymus Renovascular hypertension Strabismus Abnormality of the hand Unilateral lung agenesis Holoprosencephaly Thin vermilion border Narrow palpebral fissure Multicystic kidney dysplasia Unilateral primary pulmonary dysgenesis Micrognathia Open mouth Perineal fistula Low-set ears Hypertonia Microphthalmia Hydronephrosis Cleft lip Abnormality of the kidney Craniosynostosis Attention deficit hyperactivity disorder Underdeveloped nasal alae Congenital conductive hearing impairment Vascular ring Short philtrum Submucous cleft hard palate Pulmonary artery atresia Platybasia Abnormality of the endocrine system Echolalia Mood swings Pierre-Robin sequence Delusions Hearing abnormality Anal stenosis Axonal loss Dysdiadochokinesis Basal ganglia calcification Giant platelets Velopharyngeal insufficiency Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Psychotic episodes Apathy Central nervous system degeneration Vesicoureteral reflux Microtia Peripheral arteriovenous fistula Esophoria Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Vascular tortuosity Uterine rupture Perisylvian polymicrogyria Arterial rupture Accommodative esotropia Foot acroosteolysis Spontaneous pneumothorax Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Abnormality of the middle ear Muscular hypotonia Dysmetria Short palpebral fissure Anal atresia Pulmonic stenosis Congenital cataract Generalized tonic-clonic seizures Conductive hearing impairment Astigmatism Polymicrogyria Iris coloboma Coarctation of aorta Broad thumb Alcoholism Hernia Absent speech Amblyopia Exotropia Sclerocornea Tetany Anterior segment developmental abnormality Hypoplasia of the thymus Femoral hernia Joint hypermobility Keratoconjunctivitis sicca Abnormality of skin pigmentation Decreased liver function Hoarse cry Histiocytosis Nonimmune hydrops fetalis Joint swelling Weak cry Pulmonary fibrosis Decreased muscle mass Laryngomalacia Abnormality of vision Spontaneous abortion Hoarse voice Hydrops fetalis Ascites Periarticular subcutaneous nodules Corneal opacity Abnormality of the eye Hepatosplenomegaly Jaundice Osteoporosis Recurrent respiratory infections Kyphosis Edema Respiratory distress Hepatomegaly Motor delay Oral motor hypotonia Cherry red spot of the macula Lipogranulomatosis Suicidal ideation Polyneuropathy Impotence Cerebral hemorrhage Cachexia Atrioventricular block Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Urinary incontinence Coma Peripheral axonal neuropathy Muscle weakness Paraplegia Facial palsy Constipation Hyporeflexia Areflexia Arrhythmia Congestive heart failure Vomiting Cardiomyopathy Peripheral neuropathy Visual impairment Spasticity Frequent temper tantrums Neuronal loss in basal ganglia Aphasia Antinuclear antibody positivity Abnormality of the cerebral white matter Rigidity Gait ataxia Diabetes mellitus Myoclonus Dystonia Ventriculomegaly Dysphagia Serositis Malar rash Complement deficiency Antiphospholipid antibody positivity Hashimoto thyroiditis Infertility Epiphyseal stippling Thyroiditis Abnormality of the thyroid gland Increased antibody level in blood Abnormality of coagulation Glomerulonephritis Nephritis Systemic lupus erythematosus Leukopenia Inflammatory abnormality of the skin Cutaneous photosensitivity Midface retrusion Abnormality of eye movement Abnormality of movement Abnormal involuntary eye movements Slurred speech Mania Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Muscle fibrillation Hypokinesia Akinesia Personality changes Incoordination Falls Hyperkinesis Involuntary movements Clumsiness Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Generalized-onset seizure Bradykinesia Brain atrophy Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Malnutrition Axonal degeneration Joint hyperflexibility Blurred vision Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Cerebral ischemia Myositis Pulmonary infiltrates Pustule Uveitis Pulmonary embolism Glomerulopathy Epiphora Oral ulcer Pleural effusion Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Aortic regurgitation Pancreatitis Anorexia Mitral regurgitation Myocardial infarction Abnormal blistering of the skin Gastrointestinal hemorrhage Chest pain Endocarditis Thrombophlebitis Nausea and vomiting Decreased level of D-mannose in urine Carious teeth Hip dislocation Protruding ear Deeply set eye Proptosis Pectus excavatum Abnormality of the dentition Talipes equinovarus Macrocephaly Epicanthus Cryptorchidism Hypopyon Genital ulcers Erythema nodosum Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Chorioretinitis Immunologic hypersensitivity Lymphadenopathy Papule Orthostatic hypotension Cardiac amyloidosis Sinusitis Chronic diarrhea Recurrent urinary tract infections Abnormal lung morphology Hepatitis Decreased antibody level in blood Sepsis Neutropenia Rod-cone dystrophy Encephalopathy Myopathy Amyloid deposition in the vitreous humor Vitreous floaters Lymphopenia Orthostatic hypotension due to autonomic dysfunction Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Skin ulcer Recurrent pneumonia Stroke Enteroviral dermatomyositis syndrome Abnormal pyramidal sign Scarring Erythema Developmental regression Myalgia Photophobia Dyspnea Reduced visual acuity Abdominal pain Visual loss Blindness Enteroviral hepatitis Lymph node hypoplasia Conjunctivitis Prostatitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Agammaglobulinemia Glossoptosis Osteomyelitis Chronic otitis media Hypopigmented skin patches Recurrent gram-negative bacterial infections



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