Arthritis, and Hyperlipidemia

Diseases related with Arthritis and Hyperlipidemia

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


Top matches:

Low 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

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

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Other less relevant matches:

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 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

Low 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

Low 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 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 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 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 Hyperlipidemia

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

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

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



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

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