Arthritis, and Cyanosis

Diseases related with Arthritis and Cyanosis

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


Top matches:

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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 CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Low match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM


Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

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 FARBER DISEASE


Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FARBER DISEASE

Low match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Cyanosis

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Jaundice Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthralgia Intellectual disability Seizures Global developmental delay Failure to thrive Hepatosplenomegaly Myalgia Scoliosis Osteoporosis Short stature Congestive heart failure Anemia Arrhythmia Kyphosis Growth delay Ascites Cirrhosis Gout Elevated erythrocyte sedimentation rate Proteinuria Ataxia Abnormality of the liver Leukocytosis Flexion contracture Lymphadenopathy Fever Diarrhea Abdominal pain Osteolysis Skin rash Infertility Keratoconjunctivitis sicca Corneal opacity Depressivity Migraine Osteoarthritis Abnormality of the dentition Nausea and vomiting Cholelithiasis Vomiting Limitation of joint mobility Abdominal distention Nausea

Rare Symptoms - Less than 30% cases


Blindness Joint hyperflexibility Renal insufficiency Osteopenia Dyspnea Exertional dyspnea Hepatic steatosis Reticulocytosis Hip dislocation Vertigo Headache Renal cell carcinoma Irritability Vasculitis Scleroderma Motor delay Dilatation Constipation Edema Decreased liver function Erythema Gastrointestinal hemorrhage Joint stiffness Gastroesophageal reflux Interstitial pulmonary abnormality Abnormality of the thorax Hyperbilirubinemia Recurrent respiratory infections Dementia Conjunctivitis Cataract Elevated hepatic transaminase Abnormal myocardium morphology Subcutaneous nodule Abnormality of the cardiovascular system Aortic root aneurysm Sensorineural hearing impairment Acrocyanosis Cervical lymphadenopathy Nephropathy Neoplasm Thin skin Hematuria Ascending tubular aorta aneurysm Increased total bilirubin Cholestasis Myocardial infarction Ptosis Delayed puberty Cardiomyopathy Decreased body weight Acute kidney injury Increased bone mineral density Meningitis Abnormality of the eye Spastic paraparesis Hearing impairment Respiratory insufficiency Respiratory failure Limb muscle weakness Exercise intolerance Hemolytic anemia Cerebral visual impairment Muscle cramps Xerostomia Skin ulcer Easy fatigability Gastric ulcer Encephalitis Pruritus Dysphagia Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased muscle glycogen content Exercise-induced myoglobinuria Exercise-induced muscle cramps Dark urine Polycythemia Nonspherocytic hemolytic anemia Elevated alkaline phosphatase Steatorrhea Telangiectasia of the skin Telangiectasia Irregular hyperpigmentation Myoglobinuria Elevated serum creatine phosphokinase Carotid artery stenosis Myopathy Small face Thin nail Absence of subcutaneous fat Hip pain Aplastic clavicle Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Generalized osteoporosis Decreased testosterone in males Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Premature coronary artery atherosclerosis Sinus tachycardia Muscle weakness Insulin-resistant diabetes mellitus at puberty Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Congenital hypoplastic anemia Chronic myelogenous leukemia Anemia of inadequate production Prolonged neonatal jaundice Leukemia Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Absence of pubertal development Corneal arcus Antinuclear antibody positivity Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Raynaud phenomenon Paraparesis Calcinosis Histiocytosis Hypoalbuminemia Ischemic stroke Cranial nerve paralysis Mitral regurgitation Hepatitis Respiratory tract infection Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Juvenile rheumatoid arthritis Hyponatremia Nonimmune hydrops fetalis Joint swelling Weak cry Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Abnormality of vision Spontaneous abortion Hoarse voice Hydrops fetalis Scaling skin Coronary artery atherosclerosis Nystagmus Arteritis Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Abnormality of nail color Coronary artery aneurysm CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Glossitis Abnormal heart valve morphology Abnormal oral mucosa morphology Cholecystitis Synovitis Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent pharyngitis Allergy Myocarditis Tubulointerstitial nephritis Pericarditis Respiratory distress Abnormality of alkaline phosphatase activity Esophageal varix Hypothyroidism Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Hirsutism Stage 5 chronic kidney disease Abnormality of the kidney Mandibular prognathia Cerebral cortical atrophy Pyloric stenosis Diabetes mellitus Hypospadias Generalized abnormality of skin Calcinosis cutis Palmar telangiectasia Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Lichenification Biliary cirrhosis Chronic kidney disease Polydipsia Atretic vas deferens Uterus didelphys Abnormality of endocrine pancreas physiology 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 Reduced sperm motility Renal Fanconi syndrome Pancreatic hypoplasia Unilateral renal agenesis Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Exocrine pancreatic insufficiency Proportionate short stature Hyperuricemia Glomerulopathy Glycosuria Hypoplasia of the uterus Glucose intolerance Short clavicles Carious teeth Hypoplastic nipples Episodic fever Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Subcapsular cataract Erysipelas Amyloidosis Colitis Hypermelanotic macule Intestinal obstruction Apathy Urticaria Purpura Recurrent pneumonia Long eyelashes Nephrotic syndrome Optic disc pallor Porokeratosis Neutrophilia Dehydration Abnormality of skin pigmentation Anorexia Progressive neurologic deterioration Epistaxis Pulmonary arterial hypertension Pancytopenia Apraxia Syncope Parkinsonism Generalized myoclonic seizures Abnormal bleeding Bruising susceptibility Abnormality of eye movement Optic neuritis Neurological speech impairment EEG abnormality Myoclonus Delayed skeletal maturation Thrombocytopenia Myopia Cognitive impairment Spasticity Strabismus Pharyngitis Serositis Eczema Aciduria Bone pain Mitral valve prolapse Striae distensae Keratoconus Decreased fertility Elbow dislocation Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Joint dislocation Wormian bones Gingival overgrowth Microdontia Gingivitis Sleep disturbance Joint hypermobility Paresthesia Abnormality of the foot Malabsorption Apnea Joint laxity Pes planus Umbilical hernia Inguinal hernia Epicanthus Soft skin Atypical scarring of skin Sepsis Microcephaly Retinal dystrophy Papule Cough Nyctalopia Pallor Postnatal growth retardation Hyperhidrosis Rod-cone dystrophy Pneumonia Frontal bossing Hypertelorism Generalized hypotonia Abnormality of the wrist Genital hernia Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Abnormality of the menstrual cycle Venous insufficiency Gastrointestinal dysmotility Aplasia/Hypoplasia of the abdominal wall musculature Hepatic fibrosis Oculomotor apraxia Thin ribs Thin vermilion border Left ventricular hypertrophy Broad-based gait Hypertriglyceridemia Cardiomegaly Convex nasal ridge Nail dysplasia Growth hormone deficiency Chest pain Hypodontia Delayed eruption of teeth Narrow chest Hypohidrosis Hypotrichosis Hypermetropia Dilated cardiomyopathy Microtia Stroke Sparse hair Hypertrophic cardiomyopathy Carcinoma Conductive hearing impairment Macrotia Proptosis Dental crowding Insulin resistance Hypogonadism Nasal speech Lipoatrophy Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Heart murmur Metaphyseal widening Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Intracranial hemorrhage Dermal atrophy Sparse and thin eyebrow Relative macrocephaly Hypercholesterolemia Acanthosis nigricans Hyperlipidemia Atherosclerosis Aminoaciduria Coxa valga Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Aspiration Aortic valve stenosis Narrow mouth Prominent forehead Leukopenia Protuberant abdomen Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Aseptic necrosis Periorbital edema Pathologic fracture Pericardial effusion Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Clubbing Portal hypertension Increased susceptibility to fractures Reduced bone mineral density Generalized osteosclerosis Esodeviation Alopecia Hematological neoplasm Midface retrusion Malar flattening Short nose Abnormality of the skeletal system Macrocephaly Skeletal muscle atrophy Hypertension Abnormal facial shape Micrognathia Horizontal supranuclear gaze palsy Cardiac valve calcification Decreased beta-glucocerebrosidase protein and activity Hypersplenism Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Abnormal gallbladder morphology



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more