Cognitive impairment, and Osteoarthritis

Diseases related with Cognitive impairment and Osteoarthritis

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


Top matches:

Low match ALKAPTONURIA


Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).

ALKAPTONURIA Is also known as homogentisic acid oxidase deficiency|hereditary ochronosis

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hypertension
  • Kyphosis
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ALKAPTONURIA

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

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 AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low 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

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

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 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hypertension Bruising susceptibility Progressive neurologic deterioration Intellectual disability Hyperreflexia Failure to thrive Spasticity Rheumatoid arthritis Depressivity Abnormality of skin pigmentation Thrombocytopenia Dystonia Leukopenia Fatigue Tremor Abnormality of the eye Proteinuria Blue sclerae Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Anxiety Rigidity Hepatosplenomegaly Aggressive behavior Abnormality of the nervous system Pain Weight loss Osteoporosis Abnormality of the cerebral white matter Splenomegaly Dysphagia Dysarthria Hepatomegaly Peripheral neuropathy Prematurely aged appearance Abnormality of the liver Psychosis Infertility Myoclonus Dilatation Periorbital edema Gout Aseptic necrosis Abnormality of coagulation Increased antibody level in blood Alopecia Osteolysis Anorexia Abnormality of the skin Abnormal bleeding Hematuria Ataxia Cirrhosis Global developmental delay Strabismus Hepatocellular carcinoma Pathologic fracture Personality changes Schizophrenia Bone pain Involuntary movements Clumsiness Microdontia Hepatitis Hemolytic anemia Joint hypermobility Increased body weight Ascites Delayed puberty Intrauterine growth retardation Arthropathy Joint swelling Delayed skeletal maturation Recurrent infections Diarrhea Nephrolithiasis Aortic aneurysm Abnormal heart valve morphology Motor delay Back pain Neoplasm Abnormality of the urinary system Aminoaciduria Joint dislocation Abnormal joint morphology Reduced bone mineral density Kyphosis Deeply set eye Arthralgia Abnormal eyelash morphology Head tremor Upper limb undergrowth Melanocytic nevus Osteolytic defects of the phalanges of the hand Reduced consciousness/confusion Redundant skin Hypokalemia Tinnitus Sleep apnea Abnormal intestine morphology Short chin Aplasia/Hypoplasia of the earlobes Congenital hip dislocation Cardiac arrest Dilated fourth ventricle Gingival overgrowth Testicular atrophy Telangiectasia Aplasia/Hypoplasia of the eyebrow Varicose veins Hematochezia Hemoptysis Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Narrow nose Premature loss of teeth Sprengel anomaly Transient ischemic attack Esophageal atresia Keratoconus Chronic bronchitis Scleroderma Fragile skin Subcutaneous nodule Gingivitis Aortic dissection Narrow nasal bridge Periodontitis Abnormally large globe Macule Telangiectasia of the skin High, narrow palate Abnormality of the face Frequent temper tantrums Respiratory insufficiency Talipes equinovarus Macrocephaly Epicanthus Flexion contracture Ptosis Cryptorchidism Hypertelorism Velopharyngeal insufficiency Elevated serum creatinine Hyperuricemia Suicidal ideation Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Bifid uvula Renal cyst Neutropenia Nephropathy Postnatal growth retardation Abnormality of the kidney Polydactyly Cleft palate Hydrocephalus Abnormality of the dentition Thin skin Mania Mitral valve prolapse Paranoia Migraine Premature birth Aplasia/Hypoplasia of the abdominal wall musculature Flat face Thin vermilion border Vertigo Joint hyperflexibility Carious teeth Hip dislocation Abnormality of cardiovascular system morphology Protruding ear Telecanthus Umbilical hernia Proptosis Narrow mouth Glaucoma Inguinal hernia Abnormal involuntary eye movements Neuronal loss in basal ganglia Pectus excavatum Hypospadias Abnormal pupil morphology Excessive wrinkled skin Bladder diverticulum Abnormality of movement Skin rash Diabetes mellitus Hyperactivity Gait ataxia Mental deterioration Irritability Autoimmunity Midface retrusion Cough Halitosis Falls Cutaneous photosensitivity Neurodegeneration Hypermethioninemia Abnormal cerebellum morphology Hypertyrosinemia Progressive cerebellar ataxia Homocystinuria Gliosis Chorea Brain atrophy Neuronal loss in central nervous system Bradykinesia Memory impairment Inflammatory abnormality of the skin Generalized-onset seizure Cerebellar atrophy Gait disturbance Delayed speech and language development Serositis Malar rash Complement deficiency Antiphospholipid antibody positivity Pleuritis Antinuclear antibody positivity Raynaud phenomenon Gangrene Hashimoto thyroiditis Vasculitis Epiphyseal stippling Autoimmune thrombocytopenia Thyroiditis Pericarditis Autoimmune hemolytic anemia Abnormality of the thyroid gland Behavioral abnormality Glomerulonephritis Nephritis Systemic lupus erythematosus Purpura CNS demyelination Dysdiadochokinesis Pneumothorax Arterial dissection Molluscoid pseudotumors Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Internal hemorrhage Spontaneous pneumothorax Colonic diverticula Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Ventriculomegaly Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Restlessness Foot acroosteolysis Type II diabetes mellitus Premature delivery because of cervical insufficiency or membrane fragility Aortic regurgitation Peripheral demyelination Headache Fever Nystagmus Broad-based gait Hyperkinesis Hypermobility of distal interphalangeal joints Incoordination Slurred speech Hemothorax Cystocele Arterial rupture Cardiac valve calcification Obsessive-compulsive behavior Akinesia Hypokinesia Hypoplastic lacrimal duct Muscle fibrillation Bronchitis Arteriovenous fistulas of celiac and mesenteric vessels Cerebellar vermis atrophy Uterine prolapse Uterine rupture Horizontal supranuclear gaze palsy Spastic paraparesis Hematological neoplasm Immune dysregulation Elevated hepatic transaminase Difficulty walking Jaundice Cerebral atrophy Vomiting Edema Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Concave nasal ridge Nausea and vomiting Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature External genital hypoplasia Truncal obesity High pitched voice Keratitis Reduced number of teeth Short long bone Hypercholesterolemia Pruritus Poor speech Short toe Leukoencephalopathy Hypoparathyroidism Abnormality of blood and blood-forming tissues Osteomalacia Glycosuria Global brain atrophy Oral-pharyngeal dysphagia Abnormality of mitochondrial metabolism Hypercalciuria Abnormality of the hand Drooling Nephrocalcinosis Confusion Spontaneous abortion Muscle stiffness Decreased liver function Cholestasis Coma Polyneuropathy Hepatic steatosis Hepatic failure Nausea Peripheral axonal neuropathy Paresthesia Lymphopenia Hypohidrosis Increased reactive oxygen species production Irregular hyperpigmentation Calcification of cartilage Intervertebral disc degeneration Mitral valve calcification Aortic valve calcification Dark urine Chronic pain Low back pain Abnormality of the nose Hearing abnormality Ankylosis Hyperparathyroidism Prostatitis Vertebral fusion Abnormality of the ear Growth abnormality Abnormality of vision Atherosclerosis Abnormality of the nail Myocardial infarction Aciduria Joint stiffness Abnormality of metabolism/homeostasis Cartilage destruction Coronary artery calcification Chronic diarrhea Severe short stature Abnormal lung morphology Depressed nasal ridge Hypoplasia of penis Eczema Progressive visual loss Growth hormone deficiency Delayed eruption of teeth Hypoglycemia High forehead Prominent forehead Pneumonia Tendon rupture Obesity Respiratory distress Brachydactyly Abnormal facial shape Micrognathia Hearing impairment Ochronosis Pigmentation of the sclera Tendonitis Intervertebral disk calcification Thickened Achilles tendon Hand tremor Renal tubular dysfunction Decreased beta-glucocerebrosidase protein and activity Oculomotor apraxia Pericardial effusion Petechiae Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Meningitis Exertional dyspnea Increased bone mineral density Hepatic fibrosis Decreased body weight Epistaxis Pulmonary arterial hypertension Pancytopenia Apraxia Abnormality of the cardiovascular system Cyanosis Syncope Interstitial pulmonary abnormality Protuberant abdomen Generalized myoclonic seizures Fractures of the long bones Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Hypersplenism Gingival bleeding Esodeviation Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Parkinsonism Abdominal distention Acute hepatic failure Acute hepatitis Limb muscle weakness Spastic paraplegia Distal muscle weakness Proximal muscle weakness Pes cavus Babinski sign Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Hypersexuality Lower limb muscle weakness Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Paraplegia Sensory neuropathy Lymphadenopathy Scoliosis Neurological speech impairment Corneal opacity EEG abnormality Osteopenia Dyspnea Abdominal pain Recurrent respiratory infections Arrhythmia Congestive heart failure Myopia Abnormal brainstem MRI signal intensity Urinary incontinence Impaired distal tactile sensation Demyelinating sensory neuropathy Demyelinating motor neuropathy Impaired distal proprioception Impaired temperature sensation Impaired distal vibration sensation Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Urinary urgency Spastic gait Lower limb spasticity Oral motor hypotonia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Progressive neurologic deterioration, related diseases and genetic alterations Hydrocephalus and Aortic valve stenosis, related diseases and genetic alterations Ptosis and Febrile seizures, related diseases and genetic alterations Pain and Smooth philtrum, related diseases and genetic alterations

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