Flexion contracture, and Systemic lupus erythematosus

Diseases related with Flexion contracture and Systemic lupus erythematosus

In the following list you will find some of the most common rare diseases related to Flexion contracture and Systemic lupus erythematosus that can help you solving undiagnosed cases.


Top matches:

Low match IMMUNODEFICIENCY WITH FACTOR H ANOMALY


Immunodeficiency with factor H anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Escherichia coli, and Haemophilus influenzae), renal impairment and/or autoimmune diseases, typically manifesting with otitis media, bronchitis, meningitis, and/or septicemia, as well as hematuria/proteinuria, asthma, nephrotic syndrome, hemolytic uremic syndrome, glomerulonephritis, and/or systemic lupus erythematosus. Laboratory serum analysis reveals, in addition to factor H deficiency, decreased complement factor B, properin, complement C3 and terminal complement components.

IMMUNODEFICIENCY WITH FACTOR H ANOMALY Is also known as factor h deficiency|cfh deficiency

Related symptoms:

  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria
  • Abnormality of the kidney
  • Autoimmunity


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR H ANOMALY

Low match SCOTT SYNDROME


Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.

SCOTT SYNDROME Is also known as bleeding abnormality due to deficiency of platelet binding of factor x|prothrombin consumption inhibitor, familial|bleeding disorder, platelet-type, 7|bdplt7|prothrombin consumption deficiency|prothrombin conversion defect, familial

Related symptoms:

  • Abnormal bleeding
  • Epistaxis
  • Systemic lupus erythematosus
  • Intramuscular hematoma
  • Hyphema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCOTT SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT CUTIS LAXA


Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement.

AUTOSOMAL DOMINANT CUTIS LAXA Is also known as adcl

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Feeding difficulties
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CUTIS LAXA

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match CENANI-LENZ SYNDROME


Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

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 LYSINURIC PROTEIN INTOLERANCE


Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

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

Top 5 symptoms//phenotypes associated to Flexion contracture and Systemic lupus erythematosus

Symptoms // Phenotype % cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Stage 5 chronic kidney disease Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Vasculitis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Flexion contracture and Systemic lupus erythematosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anemia

Rare Symptoms - Less than 30% cases


Thrombocytopenia Myocardial infarction Feeding difficulties Skin rash Leukopenia Cutis laxa Heart murmur Seizures Pain Headache Myalgia Asthma Increased serum ferritin Rheumatoid arthritis Pancreatitis Generalized hypotonia Nausea Nausea and vomiting Malabsorption Acidosis Splenomegaly Diarrhea Hepatomegaly Hypertelorism Muscle weakness Glomerulonephritis Chronic kidney disease Nephrotic syndrome Abnormal bleeding Meningitis Abnormality of the kidney Proteinuria Osteoarthritis Acute myeloid leukemia Chest pain Ornithinuria Ascites Nephrocalcinosis Immune dysregulation Erythema Acute monocytic leukemia Hepatosplenomegaly Lymphadenopathy Myeloid leukemia Purpura Intestinal obstruction Inflammation of the large intestine Leukocytosis Hyperkalemia Elevated erythrocyte sedimentation rate Amyloidosis Pericarditis Episodic fever Myelodysplasia Melanoma Gout Antinuclear antibody positivity Arthralgia Arrhythmia Abdominal pain Abnormality of digit Abnormality of dental enamel Abnormal dermatoglyphics Renal hypoplasia/aplasia Abnormality of the metacarpal bones Laryngomalacia Hypoplasia of the radius Deep philtrum Radioulnar synostosis Elbow dislocation Ectropion Hypoplasia of the ulna Mixed hearing impairment Absent thumb Congenital hypothyroidism Constipation Oligodactyly Synostosis of carpal bones Absent toenail Absent fingernail Foot oligodactyly Bilateral renal hypoplasia Crossed fused renal ectopia Synostosis of joints Chronic myelomonocytic leukemia Fever Monocytosis Refractory anemia Acute hepatic failure Edema of the lower limbs Oral leukoplakia Protein avoidance Hyperextensible skin Neoplasm Metabolic acidosis Coma Recurrent fractures Postural instability Juvenile rheumatoid arthritis Brain atrophy Increased serum lactate Aciduria Fine hair Aminoaciduria Ulcerative colitis Hyperammonemia Abnormality of the coagulation cascade Sparse hair Malnutrition Colitis Truncal obesity Glomerulopathy Hemophagocytosis Micronodular cirrhosis Hyperlysinuria Psychotic episodes Alveolar proteinosis Oroticaciduria Asterixis Argininuria Pulmonary hemorrhage Cirrhosis Jaundice Anemia of inadequate production Lymphoma Peritonitis Decreased circulating aldosterone level Synovitis Stiff neck Bone marrow hypocellularity Pleuritis Eczema Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Hemivertebrae Osteopenia Leukemia Recurrent meningitis Orchitis Intellectual disability Short stature Failure to thrive Muscular hypotonia Cognitive impairment Skeletal muscle atrophy Respiratory insufficiency Intellectual disability, severe Vomiting Delayed skeletal maturation Osteoporosis Narrow palate Congenital cataract Congenital hip dislocation Pulmonary artery stenosis Mitral regurgitation Abnormality of the face Bronchiectasis Hoarse voice Aortic regurgitation Venous thrombosis Redundant skin Aortic aneurysm Stridor Emphysema Infantile spasms Abnormal heart valve morphology Prematurely aged appearance Aortic root aneurysm Heart block Coarctation of aorta Aortic dissection Raynaud phenomenon Right ventricular hypertrophy Premature skin wrinkling Upper airway obstruction Subglottic stenosis Uterine prolapse Bowel diverticulosis Aortic rupture Repeated pneumothoraces Visual impairment Motor delay Hypertension Dysarthria Ventricular hypertrophy Full cheeks Behavioral abnormality Thickening of the glomerular basement membrane Autoimmunity Hematuria Sepsis Psychosis Recurrent bacterial infections Lipodystrophy Nephritis Recurrent lower respiratory tract infections Drusen Hemolytic-uremic syndrome Membranoproliferative glomerulonephritis IgA deposition in the glomerulus Macroscopic hematuria Mesangial hypercellularity Decreased serum complement factor H Joint hyperflexibility Dilatation Pulmonic stenosis Umbilical hernia Dyspnea Respiratory failure Inguinal hernia Hernia Respiratory distress Glomerular subendothelial electron-dense deposits Fatigue Factor X activation deficiency Hyphema Intramuscular hematoma Epistaxis Depletion of components of the alternative complement pathway Tremor Dementia Short thumb Retrognathia Abnormal facial shape Cleft palate Cataract Ptosis Low-set ears Depressed nasal bridge Downslanted palpebral fissures Frontal bossing Short nose Malar flattening Syndactyly Prominent forehead Proptosis Hypothyroidism Deeply set eye Nystagmus Hypodontia Abnormality of the genital system Abnormal form of the vertebral bodies Renal hypoplasia Abnormality of the ribs Convex nasal ridge Renal agenesis High, narrow palate Protruding ear Micromelia Toe syndactyly Hip dislocation Finger syndactyly Prominent nasal bridge Short philtrum Micrognathia Scoliosis Facial palsy Aphasia Mental deterioration Developmental regression Paralysis Stroke Confusion Vertigo Chorea Migraine Memory impairment Hemiparesis Hemiplegia Intracranial hemorrhage Personality changes Cutis marmorata Visual field defect Hearing impairment Hemianopia Lupus anticoagulant Antiphospholipid antibody positivity Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Arterial stenosis Cerebral ischemia Atrophic scars Facial paralysis Peripheral arterial stenosis Arteriovenous malformation Acrocyanosis Transient ischemic attack Thrombocytosis Erythroid dysplasia



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