Autoimmunity, and Joint stiffness

Diseases related with Autoimmunity and Joint stiffness

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


Top matches:

Low match STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY


STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low 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

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Other less relevant matches:

Low match METAPHYSEAL ANADYSPLASIA


Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

METAPHYSEAL ANADYSPLASIA Is also known as maroteaux-verloes-stanescu syndrome|regressive metaphyseal dysplasia

Related symptoms:

  • Short stature
  • Joint stiffness
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about METAPHYSEAL ANADYSPLASIA

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

Low match MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match ISOLATED ECTOPIA LENTIS


Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity.

ISOLATED ECTOPIA LENTIS Is also known as ectopia lentis syndrome|familial ectopia lentis

Related symptoms:

  • Scoliosis
  • Nystagmus
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ECTOPIA LENTIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Joint stiffness

Symptoms // Phenotype % cases
Arthritis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Joint stiffness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Gait disturbance Scoliosis Antinuclear antibody positivity Osteoarthritis Erythema Myalgia Fever Anemia Headache

Rare Symptoms - Less than 30% cases


Joint hypermobility Ataxia Orchitis Growth delay Pleuritis Pericarditis Inflammation of the large intestine Rheumatoid arthritis Pancreatitis Meningitis Myocardial infarction Vasculitis Migraine Fatigue Congestive heart failure Kyphosis Intellectual disability Hypertelorism Nystagmus Abnormality of epiphysis morphology Abnormality of the metaphysis Hypertension Malar flattening Reduced visual acuity Platyspondyly Uveitis Encephalitis Subcutaneous nodule Lymphadenopathy Paresthesia Dyspnea Chest pain Glaucoma Nausea and vomiting Renal insufficiency Scarring Skin rash Abnormal lung morphology Decreased body weight Leukopenia Elevated erythrocyte sedimentation rate Pustule Raynaud phenomenon Myositis Diarrhea Splenomegaly Arthropathy Abdominal pain Malabsorption Waddling gait Polydactyly Muscular hypotonia Homocystinuria Abnormal pupil morphology Cleft palate Choreoathetosis Myopia Talipes equinovarus Short neck Respiratory distress Ectopia pupillae Ectopia lentis Midface retrusion Hernia Severe short stature Skeletal dysplasia Limitation of joint mobility Genu valgum Arachnodactyly Retinal detachment Pulmonary hypoplasia Flat face Retinal degeneration Micromelia Narrow chest Muscle weakness Amblyopia Hip dislocation Broad forehead Pectus carinatum Respiratory tract infection Hyperlordosis Apnea Sensorineural hearing impairment High myopia Generalized hypertrichosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Wrist flexion contracture Metacarpal osteolysis Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Ankylosis Ankle contracture Hip contracture Severe generalized osteoporosis Metatarsal osteolysis Involuntary movements Distal tapering of metatarsals Hearing impairment Iris atrophy Torticollis Generalized hypotonia Hyperkinesis Sclerotic cranial sutures Posterior synechiae of the anterior chamber Carpal osteolysis Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Limb undergrowth Lumbar hyperlordosis Paraplegia Pneumonia Generalized muscle weakness Exostoses Irregular vertebral endplates Pathologic fracture Hip dysplasia Paroxysmal dyskinesia Abnormal erythrocyte morphology Hip osteoarthritis Paroxysmal choreoathetosis Staring gaze Hemolytic anemia Cognitive impairment Leukemia Visual impairment Beaking of vertebral bodies Hip pain Thrombocytopenia Myoclonus Abnormality of movement Paroxysmal dystonia Spastic paraplegia Kernicterus Neurological speech impairment Rigidity Dyskinesia Morphological abnormality of the central nervous system Dystonia Dysphagia Dysarthria Spasticity Schmorl's node Heberden's node Knee osteoarthritis Abnormal heart morphology Delayed calcaneal ossification Abnormal form of the vertebral bodies Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Restrictive ventilatory defect Short thorax Vestibular dysfunction Chorea Bowing of the legs Back pain Mandibular prognathia Trismus Growth abnormality Astigmatism Sleep apnea Coxa vara Rhizomelia Disproportionate short stature Hypoplasia of the odontoid process Limitation of knee mobility Retinoschisis Neonatal short-trunk short stature Sciatica Narrow nasal bridge Delayed pubic bone ossification Facial grimacing Myokymia Limited hip movement Vitreoretinopathy Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Episodic ataxia Genu varum Frontal bossing Abnormality of the thyroid gland Erysipelas Neoplasm Recurrent meningitis Serositis Azotemia Renal amyloidosis Gastrointestinal infarctions Congenital hypoplastic anemia Blindness Stiff neck Synovitis Decreased circulating aldosterone level Peritonitis Anemia of inadequate production Oral leukoplakia Acute hepatic failure Hyperreflexia Behavioral abnormality Gout Stroke Abnormal blistering of the skin Memory impairment Gastrointestinal hemorrhage Vertigo Confusion Papule Cough Abnormal pyramidal sign Dilatation Retinopathy Irritability Developmental regression Photophobia Weight loss Alopecia Visual loss Edema of the lower limbs Increased serum ferritin Mitral regurgitation Interstitial pulmonary abnormality Hepatomegaly Fasciitis Malar rash Follicular hyperplasia Low-grade fever Thrombocytosis Increased antibody level in blood Constipation Pulmonary fibrosis Cutis marmorata Tachypnea Lymphopenia Telangiectasia Nail dystrophy Recurrent respiratory infections Arrhythmia Acidosis Episodic fever Nephrocalcinosis Amyloidosis Hyperkalemia Leukocytosis Intestinal obstruction Systemic lupus erythematosus Chronic kidney disease Purpura Nephrotic syndrome Hepatosplenomegaly Asthma Ascites Nephropathy Nausea Stage 5 chronic kidney disease Abnormality of the kidney Proteinuria Hemiparesis Anorexia Abnormality of the ear Failure to thrive Hypothyroidism Proptosis Brachycephaly Diabetes mellitus Osteoporosis Pes cavus Brachydactyly Osteopenia Flexion contracture Micrognathia Abnormality of ulnar metaphysis Abnormality of the lower limb Abnormality of the ulna Aplasia/Hypoplasia of the radius Bowing of the long bones Kyphoscoliosis Coarse facial features Decreased level of D-mannose in urine Split hand Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Osteolysis Knee flexion contracture Gingival overgrowth Thickened skin Hypertrichosis Pes planus Interphalangeal joint contracture of finger Hypoplasia of the maxilla Delayed eruption of teeth Small hand Hirsutism Bulbous nose Corneal opacity Hypopyon Epididymitis Aortic regurgitation Keratoconjunctivitis sicca Cerebral ischemia Gangrene Pulmonary infiltrates Aseptic necrosis Pulmonary embolism Hemoptysis Glomerulopathy Arterial thrombosis Blurred vision Epiphora Acne Pleural effusion Increased intracranial pressure Venous thrombosis Cranial nerve paralysis Abnormal myocardium morphology Recurrent aphthous stomatitis Genital ulcers Anterior uveitis Panuveitis Superficial thrombophlebitis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Posterior uveitis Optic neuritis Stomatitis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Oral ulcer Endocarditis Alopecia areata Myopic astigmatism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Thrombocytopenia, related diseases and genetic alterations

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