Arthritis, and Hypertriglyceridemia

Diseases related with Arthritis and Hypertriglyceridemia

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


Top matches:

Medium match CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2


Related symptoms:

  • Hypertension
  • Osteoporosis
  • Diabetes mellitus
  • Stroke
  • Sudden cardiac death


SOURCES: OMIM MESH MENDELIAN

More info about CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2; ADCAD2

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3


Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE IA; GSD1A


Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match GLYCOGEN STORAGE DISEASE IC; GSD1C


GLYCOGEN STORAGE DISEASE IC; GSD1C Is also known as gsd ic

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Renal insufficiency
  • Hypoglycemia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IC; GSD1C

Low match GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match HYPERLIPIDEMIA, COMBINED, 1


HYPERLIPIDEMIA, COMBINED, 1 Is also known as hyplip1|hyperlipidemia, familial combined, 1|fchl1

Related symptoms:

  • Hyperlipidemia
  • Abnormality of lipid metabolism


SOURCES: MESH OMIM MENDELIAN

More info about HYPERLIPIDEMIA, COMBINED, 1

Top 5 symptoms//phenotypes associated to Arthritis and Hypertriglyceridemia

Symptoms // Phenotype % cases
Hyperlipidemia Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Delayed puberty Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anemia Seizures Hepatomegaly Decreased glomerular filtration rate Proteinuria Elevated hepatic transaminase Recurrent infections Gout Failure to thrive Lactic acidosis Pain Congestive heart failure Atherosclerosis Renal insufficiency Stroke Osteopenia Lipodystrophy Hypoglycemia Carcinoma Flexion contracture Focal segmental glomerulosclerosis Hypercholesterolemia Xanthelasma Arthralgia Fever Hepatocellular carcinoma Myocardial infarction Skin rash Xanthomatosis Growth delay Hematuria

Rare Symptoms - Less than 30% cases


Renal tubular acidosis Hepatoblastoma Enlarged kidney Distal renal tubular acidosis Lipemia retinalis Protuberant abdomen Doll-like facies Intellectual disability Microalbuminuria Hyperuricemia Chronic pancreatitis Thick lower lip vermilion Skeletal muscle atrophy Dyspnea Abnormality of lipid metabolism Angina pectoris Abnormal EKG Heart murmur Aminoaciduria Hypohidrosis Left ventricular hypertrophy Abnormality of the cardiovascular system Chest pain Hypertrophic cardiomyopathy Midface retrusion Edema Cardiomyopathy Cataract Sensorineural hearing impairment Hearing impairment Clubbing of fingers Elevated erythrocyte sedimentation rate Chronic kidney disease Cardiomegaly Macrotia Hyperhidrosis Arrhythmia Glomerulosclerosis Transient ischemic attack Erythema Conjunctivitis Hypochromic anemia Finger swelling Neoplasm Lymphadenopathy Cognitive impairment Diarrhea Acidosis Myositis Nephropathy Thrombocytopenia Lymphopenia Microcytic anemia Panniculitis Hepatosplenomegaly Glucose intolerance Abnormal bleeding Pancreatitis Hypermelanotic macule Sudden cardiac death Scarring Nephrolithiasis Increased antibody level in blood Metabolic acidosis Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Lymphedema Subcutaneous nodule Purpura Anorexia Spontaneous abortion Abnormal autonomic nervous system physiology Corneal dystrophy Fasciculations Bradycardia Exercise intolerance Easy fatigability Ischemic stroke Tricuspid regurgitation Interstitial pulmonary abnormality Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Impaired vibratory sensation Reduced bone mineral density Clubbing Personality changes Polydipsia Hemiplegia Abnormality of the hand Prominent supraorbital ridges Atrioventricular block Mitral regurgitation Tinnitus Ventricular arrhythmia Abnormal lung morphology Venous thrombosis Palpitations Posteriorly rotated ears Abnormality of the kidney Abnormality of the nervous system Anxiety Myalgia Coarse facial features Mandibular prognathia Hypothyroidism Hyperkeratosis Abdominal pain Constipation Cough Depressivity Dilatation Headache Behavioral abnormality Vomiting Respiratory insufficiency Fatigue Optic atrophy Peripheral neuropathy Developmental regression Prominent nasal bridge Atrial fibrillation Thick eyebrow Ventricular hypertrophy Nephrotic syndrome Mitral valve prolapse Hypotension Progressive sensorineural hearing impairment Syncope Abdominal distention Muscle cramps Thick vermilion border Bulbous nose Corneal opacity Tachycardia Nausea Stage 5 chronic kidney disease Vertigo Paresthesia Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Papule Urinary incontinence Diabetes mellitus Orthostatic hypotension Vascular tortuosity Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Nephrogenic diabetes insipidus Shortened PR interval Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Decreased lacrimation Coronary artery stenosis Conjunctival telangiectasia Tenesmus Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Left ventricular septal hypertrophy Concentric hypertrophic cardiomyopathy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Primary hypothyroidism Supraventricular arrhythmia Celiac disease Tubulointerstitial nephritis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Edema of the lower limbs Chronic obstructive pulmonary disease Renal tubular dysfunction Xerostomia Inflammation of the large intestine Aortic root aneurysm Wheezing Glycosuria Abnormal heart valve morphology Glomerulopathy Telangiectasia of the skin Peripheral arterial stenosis Achalasia Dysesthesia Gastrointestinal dysmotility Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Periorbital fullness Sinus bradycardia Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Oral ulcer Bilateral coxa valga Recurrent bacterial infections Macrocephaly Alopecia Inflammatory abnormality of the skin Malar flattening Short nose Kyphosis Abnormality of the dentition Sinusitis Abnormality of the skeletal system Abnormal facial shape Prominent forehead Micrognathia Scoliosis Keratitis Adipose tissue loss Stiff skin Episcleritis Erythema nodosum Flexion contracture of toe Dementia Hypogonadism Immune dysregulation Carious teeth Growth hormone deficiency Limitation of joint mobility Hypodontia Delayed eruption of teeth Hepatic steatosis Thin vermilion border Infertility Narrow chest Hypotrichosis Narrow mouth Hypermetropia Dilated cardiomyopathy Hip dislocation Microtia Sparse hair Joint stiffness Conductive hearing impairment Cerebral calcification Proptosis Generalized lipodystrophy Abnormally large globe Convex nasal ridge Fasting hypoglycemia Chronic hepatitis Recurrent respiratory infections Intermittent diarrhea Hepatic failure Hypoglycemic seizures Pyelonephritis Enterocolitis Skeletal myopathy Breathing dysregulation Muscular hypotonia Neoplasm of the liver Full cheeks Hepatitis Epistaxis Prolonged bleeding time Decreased muscle mass Nephrocalcinosis Portal hypertension Elevated alkaline phosphatase Myopathy Hepatocellular adenoma Rimmed vacuoles Inability to walk Basal ganglia calcification Long fingers Growth abnormality Elbow flexion contracture Bone pain Hyperpigmentation of the skin Prominent nose Macroglossia Camptodactyly of finger Hypocitraturia Abnormality of the liver Calcinosis Bronchiolitis Babinski sign Splenomegaly Intellectual disability, mild Bronchiolitis obliterans Bronchiolitis obliterans organizing pneumonia Muscle weakness Nail dysplasia Cyanosis Neutropenia Arteriosclerosis Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Narrow nasal ridge Carcinoid tumor Intermittent claudication Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Corneal arcus Widely patent fontanelles and sutures Osteolytic defects of the phalanges of the hand Absence of pubertal development Ketonemia Spider hemangioma Pulmonary arterial hypertension Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Carotid artery stenosis Parietal bossing Narrow nasal tip Hypercalciuria Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Prominent superficial veins Ovoid vertebral bodies Osteoarthritis Hypergonadotropic hypogonadism Intracranial hemorrhage Nasal speech Dermal atrophy Relative macrocephaly Acanthosis nigricans Osteolysis Coxa valga Hypogonadotrophic hypogonadism Increased bone mineral density Premature ovarian insufficiency Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Pneumonia Dental crowding Decreased body weight Broad-based gait Thin skin Hyperinsulinemia Metaphyseal widening Hyperphosphatemia Hypoplastic nipples Down-sloping shoulders Fragile nails Type II diabetes mellitus Absent eyelashes Thrombocytosis Alopecia of scalp Short clavicles Renal cell carcinoma Keratoconjunctivitis sicca Abnormality of the thorax Thin ribs Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Dysphagia Cornea verticillata



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

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