Fever, and Subcutaneous nodule

Diseases related with Fever and Subcutaneous nodule

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


Top matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Medium match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Medium 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

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Other less relevant matches:

Medium match LASSA FEVER


Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.

LASSA FEVER Is also known as lassa hemorrhagic fever|lf

Related symptoms:

  • Seizures
  • Hearing impairment
  • Fever
  • Fatigue
  • Diarrhea


SOURCES: MESH ORPHANET MENDELIAN

More info about LASSA FEVER

Medium match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Medium match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

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

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Top 5 symptoms//phenotypes associated to Fever and Subcutaneous nodule

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arthralgia Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Fever and Subcutaneous nodule. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Vasculitis Chest pain Lymphadenopathy Headache Pain Hemoptysis Myocardial infarction Hypertension Myalgia Abdominal pain Cough Nausea and vomiting Pleural effusion Anemia Papule Skin rash Glaucoma Respiratory insufficiency Hearing impairment Autoimmunity Thrombocytopenia Scarring Cerebral ischemia Cranial nerve paralysis Anterior uveitis Increased inflammatory response Anorexia Myositis Erythema nodosum Neoplasm Congestive heart failure Gangrene Renal insufficiency Uveitis Elevated erythrocyte sedimentation rate Dyspnea Alopecia Increased antibody level in blood Retinopathy Hypercalcemia Skin ulcer Visual impairment Gastrointestinal hemorrhage Arrhythmia Edema Splenomegaly Blindness Peripheral neuropathy Cataract Iridocyclitis

Rare Symptoms - Less than 30% cases


Hemiplegia Flexion contracture Sarcoma Hematuria Irritability Diabetes insipidus Increased intracranial pressure Leukopenia Conjunctivitis Vertigo Clinodactyly Hepatomegaly Sensorineural hearing impairment Skeletal muscle atrophy Pleuritis Venous thrombosis Pancreatitis Glomerulopathy Meningitis Pericarditis Pulmonary infiltrates Paresthesia Stroke Visual loss Respiratory distress Endocarditis Intellectual disability, mild Photophobia Erythema Global developmental delay Inflammation of the large intestine Epiphora Blurred vision Keratoconjunctivitis sicca Chorioretinitis Abnormal pyramidal sign Joint stiffness Diarrhea Pulmonary fibrosis Aortic regurgitation Inflammatory abnormality of the eye Joint swelling Optic neuropathy Inflammatory abnormality of the skin Cystoid macular edema Macular edema Rheumatoid arthritis Granulomatosis Muscle weakness Migraine Posterior uveitis Iritis Periorbital edema Panuveitis Arteritis Episodic fever Failure to thrive Dilatation Hyperhidrosis Reduced visual acuity Behavioral abnormality Vitreous floaters Developmental regression Abnormal conjunctiva morphology Malabsorption Hypothermia Abnormal blistering of the skin Confusion Memory impairment Abnormal salivary gland morphology Hemiparesis Mitral regurgitation Encephalitis Acne Dacryocystitis Pulmonary embolism Aseptic necrosis Pustule Raynaud phenomenon Abnormal myocardium morphology Gait disturbance Scleritis Hyperreflexia Recurrent corneal erosions Restrictive ventilatory defect Petechiae Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Abnormal liver parenchyma morphology Wheezing Enlargement of parotid gland Tracheal stenosis Chronic obstructive pulmonary disease Angina pectoris Concave nasal ridge Posterior vitreous detachment Abnormality of the nose Abnormality of the hypothalamus-pituitary axis Abnormality of skin morphology Ataxia Nasal obstruction Elevated C-reactive protein level Rhinorrhea Abnormal reproductive system morphology Ocular pain Subglottic stenosis Neuritis Vitritis Ureteral stenosis Abnormal oral cavity morphology Episcleritis Recurrent aphthous stomatitis Recurrent intrapulmonary hemorrhage Prostatitis Arterial thrombosis Immunologic hypersensitivity Stomatitis Abnormality of the musculature Ventricular tachycardia Eosinophilia Chylothorax Abnormality of the nasal mucosa Hypercalciuria Vitreous hemorrhage Portal hypertension Emphysema Abnormality of the pleura Pulmonary granulomatosis Pneumothorax Chorioretinal atrophy Interstitial pulmonary abnormality Hyperthyroidism Nephrocalcinosis Hyperuricemia Vitreous snowballs Anterior synechiae of the anterior chamber Night sweats Heart block Skin nodule Bone cyst Immune dysregulation Enlarged lacrimal glands Increased CSF protein Upper airway obstruction Abnormality of the gastrointestinal tract Maculopapular exanthema Tubulointerstitial nephritis Osteolysis Abnormality of the cerebrospinal fluid Abnormality of the adrenal glands Hypothyroidism Alopecia areata Oral ulcer Thrombophlebitis Abnormality of the lymph nodes Optic neuritis Retrobulbar optic neuritis Orchitis Skin plaque Superficial thrombophlebitis Genital ulcers Epididymitis Generalized lymphadenopathy Decreased level of D-mannose in urine Hypopyon Proximal muscle weakness Hyperpigmentation of the skin Facial palsy Hepatic failure Hemolytic anemia Hypopigmentation of the skin Sudden cardiac death Syncope Parotitis Pancytopenia Abnormal cardiac ventricular function Increased T cell count Palpitations Abnormal lung morphology Nephrolithiasis Bronchiectasis Decreased liver function Basal ganglia calcification Intestinal obstruction Ovarian neoplasm Amaurosis fugax Gastrointestinal infarctions Hypertensive crisis Lethargy Spontaneous abortion Palpebral edema Cardiorespiratory arrest Recurrent pharyngitis Menometrorrhagia Chemosis Hydrocephalus Carcinoma Cerebral palsy Nephroblastoma Poor appetite Ascending tubular aorta aneurysm Renal neoplasm Neoplasm of the liver Oculomotor nerve palsy Teratoma Neoplasm of the central nervous system Embryonal neoplasm Internal hemorrhage Macrotia Arthrogryposis multiplex congenita Arachnodactyly Macroglossia Prominent nose Cardiomegaly Thick lower lip vermilion Abnormal endocardium morphology Arterial stenosis Lipodystrophy Abnormal cranial nerve morphology Short stature Brachydactyly Immunodeficiency Pes planus Everted lower lip vermilion Bifid uvula Combined immunodeficiency Recurrent viral infections Lymphadenitis Camptodactyly Camptodactyly of finger Eczema Abnormality of the ear Abnormal joint morphology Juvenile rheumatoid arthritis Abnormal pattern of respiration Hypertrophic cardiomyopathy Abnormal aortic valve morphology Reduced consciousness/confusion Abnormal heart valve morphology Psoriasiform dermatitis Pulmonary arterial hypertension Neurological speech impairment Nongranulomatous uveitis Synovitis Intermittent generalized erythematous papular rash Tendonitis Large vessel vasculitis Band keratopathy Flexion contracture of toe Abducens palsy Abnormality of the face Hyperostosis Stridor Aplasia/Hypoplasia of the phalanges of the hallux Stiff neck Overbite Low-grade fever Soft tissue sarcoma Synostosis of joints Osteochondroma Fibrosarcoma Ectopic ossification Small cervical vertebral bodies Ectopic ossification in muscle tissue Ectopic ossification in ligament tissue Ectopic ossification in tendon tissue Progressive cervical vertebral spine fusion Abnormality of the first metatarsal bone Cardiomyopathy Short 1st metacarpal Epistaxis Chronic otitis media Glomerulonephritis Purpura Hoarse voice Sinusitis Diplopia Otitis media Recurrent respiratory infections Sensory neuropathy Nephropathy Paralysis Proteinuria Hydronephrosis Proptosis Broad femoral neck Short hallux Right bundle branch block Conductive hearing impairment Microcytic anemia Lipoatrophy Clubbing of fingers Clubbing of toes Abnormality of the Leydig cells Intellectual disability Scoliosis Low-set ears Abnormality of the skeletal system Kyphosis Clinodactyly of the 5th finger Pneumonia Respiratory failure Difficulty walking Respiratory tract infection Broad neck Metaphyseal widening Exostoses Ankylosis Alopecia of scalp Hamartoma Spinal rigidity Hallux valgus Back pain Hypotrichosis Widely spaced teeth Finger clinodactyly Aspiration Abnormal vertebral morphology Short thumb Limitation of joint mobility Abnormal trabecular meshwork morphology



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