Arthritis, and Encephalitis

Diseases related with Arthritis and Encephalitis

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


Top matches:

Medium match ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3


ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Medium match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Medium match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

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Other less relevant matches:

Medium match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

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

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 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1


Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.

Related symptoms:

  • Headache
  • Arthritis
  • Meningitis
  • Recurrent streptococcus pneumoniae infections


SOURCES: MESH OMIM MENDELIAN

More info about INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1; IPD1

Low match AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2


AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 Is also known as agammaglobulinemia, autosomal recessive, due to igll1 defect

Related symptoms:

  • Arthritis
  • Decreased antibody level in blood
  • Meningitis
  • Recurrent pneumonia
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2

Low match AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8


AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8 Is also known as agammaglobulinemia, autosomal dominant, due to tcf3 defect

Related symptoms:

  • Arthritis
  • Recurrent otitis media
  • Meningitis
  • Agammaglobulinemia
  • B lymphocytopenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8

Top 5 symptoms//phenotypes associated to Arthritis and Encephalitis

Symptoms // Phenotype % cases
Meningitis Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Decreased antibody level in blood Pneumonia Agammaglobulinemia Immunodeficiency Skin rash Epididymitis Recurrent pneumonia Recurrent otitis media Autoimmunity Hepatitis Rheumatoid arthritis Short stature Malabsorption Chronic otitis media Conjunctivitis Sinusitis Recurrent infections

Rare Symptoms - Less than 30% cases


Neutropenia Sepsis Osteomyelitis Recurrent respiratory infections Failure to thrive Recurrent skin infections Antinuclear antibody positivity Cough Thrombocytopenia Cellulitis Hearing impairment Weight loss Alopecia Dilatation Neoplasm Ataxia Headache Abnormal lung morphology Bronchitis Lymphadenopathy Arthralgia Keratoconjunctivitis sicca Anemia B lymphocytopenia Recurrent sinusitis Raynaud phenomenon Chronic diarrhea Scleroderma Skin ulcer Recurrent urinary tract infections Pyoderma Septic arthritis Prostatitis Enteroviral dermatomyositis syndrome Recurrent enteroviral infections Enteroviral hepatitis Splenomegaly Myalgia Gastrointestinal hemorrhage Telangiectasia Pain Retinopathy Joint stiffness Abdominal pain Glaucoma Reduced visual acuity Dyspnea Photophobia Developmental regression Thrombophlebitis Irritability Erythema Scarring Decreased level of D-mannose in urine Alopecia areata Abnormal pyramidal sign Stroke Papule Nausea and vomiting Stomatitis Paresthesia Confusion Vertigo Visual loss Renal insufficiency Migraine Thymoma Recurrent Neisserial infections Hypocalcemia Hypopigmented skin patches C8 deficiency Glossoptosis Cor pulmonale Endocarditis Myelopathy Abnormality of the lymphatic system Hypopyon Behavioral abnormality Pleuritis Recurrent cutaneous abscess formation Abnormality of the tonsils Lymph node hypoplasia Seizures Cataract Hyperreflexia Gait disturbance Blindness Chest pain Pustule Uveitis Pericarditis Retrobulbar optic neuritis Iritis Cerebral ischemia Increased inflammatory response Iridocyclitis Glomerulopathy Lymphopenia Posterior uveitis Anterior uveitis Myositis Blurred vision Optic neuritis Gangrene Pulmonary infiltrates Chorioretinitis Immunologic hypersensitivity Hemoptysis Pulmonary embolism Erythema nodosum Aseptic necrosis Orchitis Abnormal myocardium morphology Memory impairment Pancreatitis Abnormal blistering of the skin Myocardial infarction Arterial thrombosis Hemiparesis Mitral regurgitation Oral ulcer Subcutaneous nodule Anorexia Vasculitis Genital ulcers Epiphora Aortic regurgitation Cranial nerve paralysis Panuveitis Venous thrombosis Increased intracranial pressure Pleural effusion Acne Inflammation of the large intestine Superficial thrombophlebitis Recurrent aphthous stomatitis Hypermelanotic macule Otitis media Hypertelorism Biliary cirrhosis Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Sclerodactyly Lip telangiectasia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin High palate Calcinosis Epicanthus Dehydration Bronchiectasis External ear malformation Verrucae Crohn's disease Intellectual disability Global developmental delay Spasticity Esophageal varix Xerostomia Abnormality of the skeletal system Elevated hepatic transaminase Delayed skeletal maturation Growth hormone deficiency Recurrent sinopulmonary infections Panhypogammaglobulinemia Hepatomegaly Dysphagia Respiratory insufficiency Gastroesophageal reflux Jaundice Abnormality of the liver Irregular hyperpigmentation Pruritus Cirrhosis Ascites Cholestasis Hyperbilirubinemia Elevated alkaline phosphatase Steatorrhea Elevated erythrocyte sedimentation rate Telangiectasia of the skin Low-set ears Intellectual disability, mild Dementia Madelung deformity Irregular vertebral endplates Narrow nose Barrel-shaped chest Juvenile rheumatoid arthritis Immune dysregulation Spondylometaphyseal dysplasia Cellular immunodeficiency Tubulointerstitial fibrosis Decrease in T cell count Progressive spastic quadriplegia Autoimmune thrombocytopenia Metaphyseal sclerosis Arthralgia/arthritis Hypopigmented skin patches on arms Sensorineural hearing impairment Delayed speech and language development Myopathy Depressivity Encephalopathy Rod-cone dystrophy Vitiligo Autoimmune hemolytic anemia Severe short stature Tetraplegia Hypothyroidism Kyphoscoliosis Skeletal dysplasia Hyperlordosis Respiratory tract infection Platyspondyly Abnormality of the cerebral white matter Micromelia Hemolytic anemia Cerebral calcification Basal ganglia calcification Spastic tetraplegia Lumbar hyperlordosis Rhizomelia Purpura Systemic lupus erythematosus Nephritis Metaphyseal irregularity Spastic diplegia Combined immunodeficiency Restrictive ventilatory defect Recurrent streptococcus pneumoniae infections



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