Arthritis, and Coma

Diseases related with Arthritis and Coma

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


Top matches:

Medium match MUCKLE-WELLS SYNDROME; MWS


Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

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 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 PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

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

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

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 TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Arthritis and Coma

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Rheumatoid arthritis Uncommon - Between 30% and 50% cases
Confusion Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Arthralgia Hearing impairment Pain Fever Tremor Peripheral axonal neuropathy Spasticity Muscle weakness Failure to thrive Splenomegaly Vomiting Vasculitis Weight loss Short stature Skin rash Hypertension Diarrhea Myalgia

Rare Symptoms - Less than 30% cases


Juvenile rheumatoid arthritis Increased serum ferritin Impotence Generalized hypotonia Arthropathy Migraine Dystonia Polyneuropathy Paresthesia Lethargy Paraplegia Hepatomegaly Pancytopenia Decreased liver function Thrombocytopenia Depressivity Osteoporosis Difficulty walking Rigidity Elevated hepatic transaminase Abnormality of the liver Infertility Cirrhosis Dementia Psychosis Scoliosis Osteoarthritis Involuntary movements Bruising susceptibility Anxiety Ataxia Abnormality of the skin Leukocytosis Nystagmus Amyloidosis Nephropathy Abdominal pain Hepatosplenomegaly Sensorineural hearing impairment Peripheral neuropathy Renal insufficiency Dysarthria Hydrocephalus Arrhythmia Cardiomyopathy Congestive heart failure Arterial stenosis Amaurosis fugax Skin ulcer Abnormal endocardium morphology Ascending tubular aorta aneurysm Aortic regurgitation Psoriasiform dermatitis Abnormal pattern of respiration Inflammatory abnormality of the eye Hemoptysis Abnormal heart valve morphology Abnormal aortic valve morphology Gastrointestinal infarctions Cerebral ischemia Gangrene Reduced consciousness/confusion Abnormal metaphyseal vascular invasion Arteritis Babinski sign Abnormality of movement Spastic paraplegia Abnormal pyramidal sign Irritability Hyperlordosis Hypothyroidism Gait ataxia Pes cavus Encephalopathy Hypertensive crisis Behavioral abnormality Hypertonia Talipes equinovarus Gait disturbance Hyperreflexia Motor delay Anorexia Increased inflammatory response Long coccyx Flared iliac wings Dumbbell-shaped metaphyses Feeding difficulties in infancy Macrocytic anemia Incoordination Aciduria Neutropenia Small for gestational age Hyperplasia of the femoral trochanters Microtia Developmental regression Thin upper lip vermilion Stomatitis Acidosis Abnormal heart morphology Epicanthus Feeding difficulties High palate Low-set ears Muscular hypotonia Global developmental delay Megaloblastic anemia Methylmalonic aciduria Subcutaneous nodule Hyperhidrosis Myocardial infarction Pulmonary arterial hypertension Chest pain Halberd-shaped pelvis Abnormal cerebellum morphology Neurological speech impairment Retinopathy Hypertrophic cardiomyopathy Dilatation Homocystinuria Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Methylmalonic acidemia Sleep disturbance Dysphonia Parkinsonism Kyphosis Skeletal dysplasia Kyphoscoliosis High forehead Respiratory failure Prominent forehead Severe short stature Clinodactyly of the 5th finger Midface retrusion Respiratory insufficiency Joint stiffness Brachydactyly Depressed nasal bridge Flexion contracture Cataract Cleft palate Paresis of extensor muscles of the big toe Decreased CSF homovanillic acid Abnormality of the substantia nigra Low-set, posteriorly rotated ears Camptodactyly of finger Rough bone trabeculation Epiphyseal dysplasia Fetal akinesia sequence Enlarged joints Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Abnormal joint morphology Short finger Multiple joint contractures Akinesia Short ribs Platyspondyly Abnormal form of the vertebral bodies Abnormality of the metaphysis Interphalangeal joint contracture of finger Abnormality of the ribs Limb undergrowth Micromelia Narrow chest Arthrogryposis multiplex congenita Spondylometaphyseal dysplasia Fixed facial expression Thoracic kyphoscoliosis Bradykinesia Snail-like ilia Impaired vibration sensation in the lower limbs Short diaphyses Hyperactive deep tendon reflexes Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Flared humeral metaphysis Brisk reflexes Spastic diplegia Generalized dystonia Postural tremor Relatively short spine Obsessive-compulsive behavior Abnormal cortical bone morphology Cerebral palsy Torticollis Horizontal nystagmus Abnormality of extrapyramidal motor function Limb dystonia Hypoplastic cervical vertebrae Transient hyperphenylalaninemia Cervical instability Progressive flexion contractures Long thorax Abnormality of the intervertebral disk Obsessive-compulsive trait Caudal appendage Pseudoarthrosis Severe platyspondyly Infantile encephalopathy Abnormal enchondral ossification Focal dystonia Anisospondyly Elevated transferrin saturation Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Flared femoral metaphysis Abnormality of endocrine pancreas physiology Immunodeficiency Abnormality of the anterior pituitary Constrictive median neuropathy Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Stroke-like episode Growth delay Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Amyloid deposition in the vitreous humor Neoplasm Cerebral hemorrhage Poor speech Progressive neurologic deterioration Hepatitis Ascites Hepatic steatosis Hemolytic anemia Hepatic failure Joint hypermobility Nausea Nausea and vomiting Dysphagia Abnormality of the cerebral white matter Pruritus Aggressive behavior Abnormality of the nervous system Proteinuria Jaundice Cerebral atrophy Edema Malnutrition Cachexia Clumsiness Elevated erythrocyte sedimentation rate Cystinuria Chills Recurrent aphthous stomatitis Microscopic hematuria Papilledema Abnormality of the mouth Episodic fever Progressive sensorineural hearing impairment Urticaria Renal amyloidosis Conjunctivitis Meningitis Nephrotic syndrome Hematuria Stage 5 chronic kidney disease Ichthyosis Lymphadenopathy Abnormality of the skeletal system Band keratopathy Rigors Atrioventricular block Neuronal loss in central nervous system Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Hallucinations Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Peripheral demyelination Hypotension Visual impairment Urinary incontinence Gliosis Malabsorption Facial palsy Constipation Hyporeflexia Areflexia Headache Cholestasis Nephrolithiasis Abnormality of iron homeostasis Intellectual disability, severe Gingivitis Cellulitis Recurrent skin infections Recurrent bacterial infections Epistaxis Otitis media Abnormal bleeding Pneumonia Diffuse alveolar hemorrhage Peritonitis Secretory diarrhea Disseminated intravascular coagulation Enterocolitis Colitis Loss of consciousness Abnormality of the coagulation cascade Lymphopenia Tachycardia Periodontitis Abnormal thrombocyte morphology Kayser-Fleischer ring Delayed puberty Increased serum iron Congenital hepatic fibrosis Generalized hyperpigmentation Portal hypertension Azoospermia Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Amenorrhea Dilated cardiomyopathy Recurrent bacterial skin infections Diabetes mellitus Hypogonadism Recurrent gram-negative bacterial infections Recurrent staphylococcal infections Abnormal granulocyte morphology Severe periodontitis Decreased platelet glycoprotein IIb-IIIa Rectal abscess Atypical or prolonged hepatitis Mixed demyelinating and axonal polyneuropathy Bone pain Abnormality of the hand Glycosuria Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Personality changes Abnormality of mitochondrial metabolism Hypercalciuria Back pain Schizophrenia Abnormality of blood and blood-forming tissues Drooling Leukoencephalopathy Leukopenia Nephrocalcinosis Aminoaciduria Spontaneous abortion Muscle stiffness Increased body weight Osteomalacia Joint swelling High nonceruloplasmin-bound serum copper Menstrual irregularities Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Neoplasm of the liver Hepatocellular carcinoma Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hypoparathyroidism Absent primary metaphyseal spongiosa



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 Arthritis and Cerebral calcification, related diseases and genetic alterations Intrauterine growth retardation and Blue sclerae, related diseases and genetic alterations Scoliosis and Abnormal blistering of the skin, related diseases and genetic alterations Microcephaly and Pulmonic stenosis, related diseases and genetic alterations Macrocephaly and Dilated cardiomyopathy, related diseases and genetic alterations

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