Arthritis, and Azoospermia

Diseases related with Arthritis and Azoospermia

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


Top matches:

Low match HEMOCHROMATOSIS TYPE 2


Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOCHROMATOSIS TYPE 2

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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Other less relevant matches:

Low match FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT


Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.

FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT Is also known as fhhnc without severe ocular involvement|homg3|hypomagnesemia, isolated renal|hypomagnesemia, primary, due to defect in renal tubular transport of magnesium|renal hypomagnesemia type 3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Failure to thrive
  • Strabismus


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH HYPERCALCIURIA AND NEPHROCALCINOSIS WITHOUT SEVERE OCULAR INVOLVEMENT

Low match RENAL CYSTS AND DIABETES SYNDROME


Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.

RENAL CYSTS AND DIABETES SYNDROME Is also known as renal dysfunction-early-onset diabetes syndrome|mody5|fjhn, atypical|cakut with diabetes|maturity-onset diabetes of the young, type 5|renal cysts-maturity-onset diabetes of the young syndrome|congenital anomalies of the kidney and urinary tract with diabe

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CYSTS AND DIABETES SYNDROME

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH) (see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

Low match HEMOCHROMATOSIS TYPE 4


Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis|hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease

Related symptoms:

  • Pain
  • Cataract
  • Anemia
  • Fatigue
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 4

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

Top 5 symptoms//phenotypes associated to Arthritis and Azoospermia

Symptoms // Phenotype % cases
Abdominal pain Common - Between 50% and 80% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Impotence Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Pain Arthralgia Cirrhosis Infertility Fatigue Seizures Elevated hepatic transaminase Renal insufficiency Increased serum ferritin Hematuria Nephrolithiasis Glomerulopathy Renal tubular acidosis Malabsorption Proteinuria Hepatic steatosis Hearing impairment Mandibular prognathia Chronic kidney disease Short stature Polydipsia Cataract Increased serum iron Congestive heart failure Diabetes mellitus Delayed puberty Amenorrhea Hyperpigmentation of the skin Hypogonadotrophic hypogonadism Hypertension

Rare Symptoms - Less than 30% cases


Elevated serum creatinine Cognitive impairment Joint hyperflexibility Purpura Corneal opacity Respiratory insufficiency Feeding difficulties in infancy Glucose intolerance Anxiety Abnormality of the dentition Acidosis Behavioral abnormality Subcutaneous nodule Glycosuria Constipation Depressivity Osteoarthritis Aminoaciduria Nephropathy Paresthesia Abnormality of lipid metabolism Acute kidney injury Hyperuricemia Polyuria Hyposthenuria Hypothyroidism Strabismus Abnormality of the kidney Sensorineural hearing impairment Nephrocalcinosis Renal Fanconi syndrome Abnormality of the renal tubule Renal tubular dysfunction Joint swelling Stage 5 chronic kidney disease Diabetes insipidus Hypercalciuria Oligospermia Muscle weakness Reduced sperm motility Intellectual disability Splenomegaly Restrictive cardiomyopathy Osteomalacia Generalized hyperpigmentation Carcinoma Global developmental delay Arthropathy Osteoporosis Dilated cardiomyopathy Elevated transferrin saturation Congenital hepatic fibrosis Abnormality of endocrine pancreas physiology Ataxia Hepatomegaly Abnormal joint morphology Failure to thrive Nystagmus Hepatic fibrosis Hypogonadism Chest pain Syncope Sudden cardiac death Urinary incontinence Abdominal distention Vascular tortuosity Muscle cramps Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Heavy proteinuria Nausea Vertigo Nausea and vomiting Hypotension Thick lower lip vermilion Abnormality of the cardiovascular system Anorexia Hyperlipidemia Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Tortuosity of conjunctival vessels Fasciculations Bradycardia Lymphedema Hypohidrosis Left ventricular hypertrophy Mitral valve prolapse Left ventricular septal hypertrophy Abnormal lung morphology Mitral regurgitation Tenesmus Palpitations Myocardial infarction Atrial fibrillation Abnormality of the cerebral white matter Ventricular hypertrophy Nephrotic syndrome Acroparesthesia Increased carotid artery intimal medial thickness Pruritus Neutropenia Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Fever Peripheral neuropathy Joint dislocation Limitation of joint mobility Scarring Respiratory distress Lymphopenia Abnormality of alkaline phosphatase activity Edema Atretic vas deferens Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Decreased numbers of nephrons Papillary cystadenoma of the epididymis Epididymal cyst Absent vas deferens Multiple glomerular cysts Renal cortical cysts Optic atrophy Vomiting Papule Hypertrophic cardiomyopathy Abnormal common carotid artery morphology Abnormal ST segment Prominent nasal bridge Aortic regurgitation Cough Stroke Increased glomerular filtration rate Skin rash Developmental regression Abnormality of the nervous system Diarrhea Myalgia Coarse facial features Dyspnea Hyperkeratosis Hyperhidrosis Posteriorly rotated ears Midface retrusion Dilatation Headache Ventricular tachycardia Progressive hearing impairment Abnormal intestine morphology Shortened PR interval Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Angiokeratoma corporis diffusum Decreased lacrimation Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy Tubulointerstitial fibrosis High-frequency hearing impairment Abnormal myocardium morphology Abnormality of the nose Abnormality of femur morphology Coronary artery stenosis Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Chronic pain Shortened QT interval Angina pectoris Decreased female libido Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Distal renal tubular acidosis Vascular skin abnormality Increased blood urea nitrogen Angiokeratoma Abnormality of cardiovascular system physiology Impaired temperature sensation Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Obstructive lung disease Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormal thrombosis Concentric hypertrophic cardiomyopathy Clubbing of fingers Hyperkeratotic papule Hemiplegia Loss of consciousness Emphysema Anhidrosis Tricuspid regurgitation Impaired vibratory sensation Impaired renal concentrating ability Clubbing Heart murmur Personality changes Glomerulosclerosis Abnormality of the hand Coronary artery atherosclerosis Prominent supraorbital ridges Atrioventricular block Easy fatigability Abnormality of glycosphingolipid metabolism Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Abnormality of the forehead Bundle branch block Elevated erythrocyte sedimentation rate Mucosal telangiectasiae Uterus didelphys Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Abnormality of the gastrointestinal tract Tubular atrophy Tubulointerstitial nephritis Edema of the lower limbs Transient ischemic attack Abnormal EKG Interstitial pulmonary abnormality Unexplained fevers Aortic root aneurysm Wheezing ST segment depression Abnormal heart valve morphology Telangiectasia of the skin Functional abnormality of the gastrointestinal tract Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Xerostomia Hypoparathyroidism Pancreatic hypoplasia Protruding ear Long face Genu valgum Carious teeth Congenital cataract Platyspondyly Hip dislocation Attention deficit hyperactivity disorder Camptodactyly of finger Joint stiffness Irritability Everted lower lip vermilion Low-set, posteriorly rotated ears Intellectual disability, moderate Aggressive behavior Neonatal hypotonia Deeply set eye EEG abnormality Thin upper lip vermilion Umbilical hernia Gastroesophageal reflux Joint hypermobility Metabolic acidosis Glaucoma Hypoplasia of dental enamel Abnormality of dental enamel Narrow palate Joint contracture of the hand Skin ulcer Clonus Abnormality of epiphysis morphology Stereotypy Amblyopia Dental crowding Abnormality of the metaphysis Delayed eruption of teeth Open mouth Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Full cheeks Abnormal bleeding Recurrent fractures Reduced visual acuity Upslanted palpebral fissure Hypercholesterolemia Hepatitis Neoplasm of the liver Acute hepatic failure Increased reactive oxygen species production Hepatocellular carcinoma Pericarditis Pleural effusion Insulin resistance Telangiectasia Cardiomegaly Ascites Alcoholism Hepatic failure Osteopenia Alopecia Recurrent infections Neoplasm Abnormality of the anterior pituitary Abnormality of iron homeostasis Portal hypertension Lethargy Testicular atrophy Abnormal glucose tolerance Recurrent respiratory infections Frontal bossing Inguinal hernia Hyporeflexia Areflexia Thrombocytopenia Microphthalmia Long philtrum Kyphosis Blindness Ventriculomegaly Motor delay Microvesicular hepatic steatosis Visual impairment Feeding difficulties Cryptorchidism Micrognathia Growth delay Scoliosis Generalized hypotonia Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Neoplasm of the skin Reduced number of teeth Ureteropelvic junction obstruction Enuresis Medullary nephrocalcinosis Hypermagnesiuria Renal magnesium wasting Renal potassium wasting Chorioretinitis Enuresis nocturna Persistence of primary teeth Tetany Chondrocalcinosis Hypomagnesemia Hypocitraturia Ankylosis Amelogenesis imperfecta Male infertility Hypocalcemia Gingival overgrowth Recurrent urinary tract infections Astigmatism Hypermetropia Myopia Renal calcium wasting Impaired urinary acidification Hypoammonemia Pyloric stenosis Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Gout Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hypoplasia of the uterus Unilateral renal agenesis Spastic paraparesis Hypospadias Multicystic kidney dysplasia Paraparesis Horseshoe kidney Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Hirsutism Jaundice Cerebral cortical atrophy Dense posterior cortical cataract Wrist swelling Deep philtrum Hypophosphatemia Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Multiple renal cysts Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Open bite Taurodontia Flat occiput Obsessive-compulsive behavior Hyponatremia Chronic otitis media Self-injurious behavior Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Periodontitis Generalized hypopigmentation Lentiglobus Abnormality of calcium-phosphate metabolism Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Chorioretinal dysplasia Atelectasis Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Keloids Cheilitis Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia 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 Unsteady gait, related diseases and genetic alterations

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