Autoimmunity, and Osteoarthritis

Diseases related with Autoimmunity and Osteoarthritis

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


Top matches:

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

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 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

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Other less relevant matches:

Low match COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2


Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two types of inherited C8 deficiency have been reported in man: type I (OMIM ), in which only C8 alpha (C8A, {120950}) and C8 gamma (C8G ) are deficient, and type II, in which only C8 beta is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2 Is also known as c8b deficiency|complement component 8b deficiency|c8 beta deficiency|c8 deficiency, type ii

Related symptoms:

  • Arthritis
  • Meningitis
  • Antinuclear antibody positivity
  • C8 deficiency
  • Recurrent Neisserial infections


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2

Low match PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS


Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

Related symptoms:

  • Arthritis
  • Autoimmunity
  • Inflammatory abnormality of the skin
  • Psoriasiform dermatitis
  • Juvenile rheumatoid arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6


Related symptoms:

  • Arthritis
  • Abnormality of the nervous system
  • Cutaneous photosensitivity
  • Spontaneous abortion
  • Systemic lupus erythematosus


SOURCES: OMIM MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6; SLEB6

Low match COMPLEMENT COMPONENT C1R/C1S DEFICIENCY


Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae.

COMPLEMENT COMPONENT C1R/C1S DEFICIENCY Is also known as c1r/c1s deficiency

Related symptoms:

  • Arthralgia
  • Arthritis
  • Autoimmunity
  • Nephritis
  • Recurrent bronchitis


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT C1R/C1S DEFICIENCY

Low match AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME


Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015).

AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME Is also known as copa syndrome

Related symptoms:

  • Pain
  • Respiratory distress
  • Arthralgia
  • Arthritis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE INTERSTITIAL LUNG DISEASE-ARTHRITIS SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Very Common - Between 80% and 100% cases
Pain Uncommon - Between 30% and 50% cases
Systemic lupus erythematosus Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Antinuclear antibody positivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Short stature Pericarditis Elevated erythrocyte sedimentation rate Vasculitis Juvenile rheumatoid arthritis Respiratory distress Abnormality of the kidney Erythema Abnormal lung morphology Scoliosis Pleuritis Asthma Hernia Abnormal joint morphology Rheumatoid arthritis Meningitis Anemia Neoplasm Paresthesia Micromelia Retinal degeneration Flat face Lumbar hyperlordosis Pulmonary hypoplasia Retinal detachment Limitation of joint mobility Waddling gait Limb undergrowth High myopia Abnormality of the metaphysis Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Rhizomelia Coxa vara Sleep apnea Growth abnormality Genu valgum Hyperlordosis Narrow chest Kyphosis Sensorineural hearing impairment Muscle weakness Muscular hypotonia Cleft palate Cataract Hypertension Myopia Gait disturbance Talipes equinovarus Short neck Congestive heart failure Malar flattening Platyspondyly Midface retrusion Severe short stature Polydactyly Glaucoma Skeletal dysplasia Apnea Back pain Respiratory tract infection Pectus carinatum Broad forehead Hip dislocation Genu varum Progressive sensorineural hearing impairment Spondyloepiphyseal dysplasia Cutaneous photosensitivity Leukopenia Melanoma Myelodysplasia Myeloid leukemia Acute myeloid leukemia Immune dysregulation Acute monocytic leukemia Refractory anemia Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia Abnormality of the nervous system Spontaneous abortion Eczema Abnormal renal physiology Malar rash Nephritis Recurrent bronchitis Complement deficiency Discoid lupus rash Cough Tachypnea Glomerulonephritis Interstitial pulmonary abnormality Pathologic fracture Aseptic necrosis Pulmonary hemorrhage Bone marrow hypocellularity Lymphoma Bowing of the legs Cervical myelopathy Vestibular dysfunction Short thorax Restrictive ventilatory defect Hypertelorism Disproportionate short stature Hypoplasia of the odontoid process Vitreoretinopathy Barrel-shaped chest Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Limited hip movement Leukemia Retinoschisis Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification C8 deficiency Recurrent Neisserial infections Inflammatory abnormality of the skin Psoriasiform dermatitis Nail pits Colitis Ulcerative colitis Nystagmus Congenital hypoplastic anemia Growth delay Subarachnoid hemorrhage Dermal atrophy Urticaria Hypermelanotic macule Agenesis of permanent teeth Atrophic scars Long nose Skin vesicle Fragile skin Striae distensae Premature loss of teeth Gingival bleeding Soft skin Cutis laxa Gingivitis Periodontitis Generalized joint laxity Mitral stenosis Chronic pain Premature loss of primary teeth Poor wound healing Cigarette-paper scars Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Hyperextensible skin Osteolysis Severe periodontitis Scarring Micrognathia Flexion contracture Edema Abnormality of the dentition Dilatation Recurrent infections Inguinal hernia Osteoporosis Umbilical hernia Pes planus Joint laxity Carious teeth Joint dislocation Joint hyperflexibility Arachnodactyly Joint hypermobility Bruising susceptibility Microdontia Blue sclerae Fine hair Thin skin Mitral regurgitation Tall stature Gingival overgrowth Hoarse voice Intestinal perforation Atrophy of alveolar ridges Hearing impairment Anemia of inadequate production Intestinal obstruction Inflammation of the large intestine Leukocytosis Hyperkalemia Amyloidosis Episodic fever Increased serum ferritin Gout Edema of the lower limbs Acute hepatic failure Oral leukoplakia Peritonitis Pancreatitis Decreased circulating aldosterone level Synovitis Stiff neck Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Recurrent meningitis Orchitis Intellectual disability Generalized hypotonia Chronic kidney disease Purpura Alveolar bone loss around teeth Hepatosplenomegaly Seizures Hepatomegaly Fever Diarrhea Splenomegaly Renal insufficiency Headache Arrhythmia Constipation Abdominal pain Acidosis Myalgia Nephrocalcinosis Proteinuria Skin rash Malabsorption Nausea and vomiting Lymphadenopathy Stage 5 chronic kidney disease Nausea Nephropathy Ascites Chest pain Nephrotic syndrome Myocardial infarction Crescentic glomerulonephritis



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