Arthritis, and Jaundice

Diseases related with Arthritis and Jaundice

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

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

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

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

Top 5 symptoms//phenotypes associated to Arthritis and Jaundice

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Anemia Edema Myalgia Pain Nausea and vomiting Nausea Vomiting Abnormality of the liver Fever Migraine Osteoporosis Elevated hepatic transaminase Skin rash Decreased liver function Ascites Cholestasis Elevated erythrocyte sedimentation rate Infertility Proteinuria Short stature Failure to thrive Global developmental delay Gout Arrhythmia Scoliosis Depressivity Growth delay Paresthesia Cirrhosis Seizures Osteoarthritis Flexion contracture

Rare Symptoms - Less than 30% cases


Glycosuria Abdominal distention Hearing impairment Inguinal hernia Acute kidney injury Umbilical hernia Acrocyanosis Nephrolithiasis Renal insufficiency Hepatic steatosis Nephropathy Hirsutism Joint hyperflexibility Ataxia Abnormality of the dentition Neoplasm Hepatitis Vertigo Joint swelling Lymphadenopathy Erythema Conjunctivitis Abdominal pain Dilatation Leukocytosis Aortic root aneurysm Diarrhea Ptosis Spontaneous abortion Constipation Hydrops fetalis Joint hypermobility Subcutaneous nodule Irritability Ascending tubular aorta aneurysm Cervical lymphadenopathy Kyphosis Abnormality of the menstrual cycle Vasculitis Headache Limitation of joint mobility Gastroesophageal reflux Blindness Hyperbilirubinemia Cholelithiasis Prolonged neonatal jaundice Dysphagia Respiratory insufficiency Corneal opacity Hemolytic anemia Pruritus Esophageal varix Gastrointestinal hemorrhage Congestive heart failure Increased total bilirubin Reticulocytosis Keratoconjunctivitis sicca Aminoaciduria Chills Nephrocalcinosis Leukopenia Involuntary movements Muscle stiffness Increased body weight Bone pain Increased IgA level Clumsiness Progressive neurologic deterioration Psychosis Coma Polyneuropathy Leukoencephalopathy Frontal bossing Drooling Peripheral visual field loss Osteomalacia Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Personality changes Episodic fever Uveitis Abnormality of mitochondrial metabolism Recurrent aphthous stomatitis Poor coordination Posterior subcapsular cataract Hypercalciuria Large forehead Back pain Schizophrenia Peritonitis Abnormality of the hand Porokeratosis Bruising susceptibility Pes valgus Spasticity Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Serositis Aplasia/Hypoplasia of the patella Dysarthria Constrictive median neuropathy Short 1st metacarpal Short femur Dysostosis multiplex Short tibia Fibular hypoplasia Short humerus Hallux valgus Peripheral neuropathy Optic neuritis Hepatic failure Anxiety Neuritis Peripheral axonal neuropathy Abnormality of blood and blood-forming tissues Confusion Poor speech Abnormality of the cerebral white matter Aggressive behavior Abnormality of the nervous system Erysipelas Tremor Rigidity Difficulty walking Weight loss Dementia Neutrophilia Thrombocytopenia Cerebral atrophy Dystonia Arthropathy Hand tremor Hepatocellular carcinoma Striae distensae Aciduria Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the wrist Atypical scarring of skin Dehydration Eczema Gingivitis Soft skin Keratoconus Retinal dystrophy Decreased fertility Elbow dislocation Hyperextensible skin Decreased nerve conduction velocity Abnormal palate morphology Osteolysis Optic disc pallor Joint dislocation Sepsis Gastrointestinal dysmotility Gingival overgrowth Postnatal growth retardation Hypertelorism Microcephaly Generalized hypotonia Genital hernia Cystocele Pneumonia Rod-cone dystrophy Hyperhidrosis Pallor Papule Nyctalopia Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Cough Venous insufficiency Wormian bones Thin skin Hypoparathyroidism Colitis Retinoblastoma Purpura Urticaria Proximal muscle weakness in lower limbs Apathy Menstrual irregularities Intestinal obstruction Hypermelanotic macule Neoplasm of the liver Long eyelashes Amyloidosis Hyperphosphaturia Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Cataract Subcapsular cataract Recurrent pneumonia Nephrotic syndrome Mitral valve prolapse Pes planus Microdontia Hypoplasia of the ulna Sleep disturbance Abnormality of the foot Malabsorption Hip dislocation Apnea Joint laxity Epicanthus Premature osteoarthritis Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Metatarsus adductus Cholecystitis Short middle phalanx of finger Stage 5 chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Renal dysplasia Renal hypoplasia Renal agenesis Renal cyst Abnormality of the kidney Pyloric stenosis Mandibular prognathia Hypothyroidism Cerebral cortical atrophy Diabetes mellitus Hypospadias Generalized abnormality of skin Calcinosis cutis Palmar telangiectasia Chronic kidney disease Polydipsia Sclerodactyly Maturity-onset diabetes of the young Multiple glomerular cysts Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Bicornuate uterus Unilateral renal agenesis Elevated serum creatinine Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hyperuricemia Glomerulopathy Hypoplasia of the uterus Glucose intolerance Lip telangiectasia Mucosal telangiectasiae Epididymal cyst Cardiomyopathy Easy fatigability Exercise intolerance Cerebral visual impairment Muscle cramps Limb muscle weakness Respiratory failure Elevated serum creatine phosphokinase Myopathy Muscle weakness Myoglobinuria 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 Leukemia Polycythemia Nonspherocytic hemolytic anemia Abnormality of the gastric mucosa Telangiectasia of the skin Lichenification Biliary cirrhosis Calcinosis Antinuclear antibody positivity Raynaud phenomenon Xerostomia Irregular hyperpigmentation Scleroderma Steatorrhea Dark urine Elevated alkaline phosphatase Encephalitis Skin ulcer Telangiectasia Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased muscle glycogen content Exercise-induced myoglobinuria Exercise-induced muscle cramps Gastric ulcer Absent vas deferens Papillary cystadenoma of the epididymis Heart murmur Conjunctival hyperemia 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 Abnormal pericardium morphology Abnormal gallbladder morphology Arteritis Glossitis Abnormal oral mucosa morphology Synovitis Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent pharyngitis Aseptic leukocyturia Brachydactyly Allergy Macroglossia Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Short phalanx of finger Abnormality of the ribs Postaxial hand polydactyly Limb undergrowth Short foot Abnormality of the skeletal system Postaxial polydactyly Talipes Genu valgum Pectus carinatum Polydactyly Severe short stature Hernia Talipes equinovarus Abnormal myocardium morphology Myocarditis Decreased numbers of nephrons Abnormality of the eye Weak cry Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Abnormality of vision Hoarse voice Joint stiffness Recurrent respiratory infections Juvenile rheumatoid arthritis Respiratory distress Motor delay Nystagmus Abnormality of alkaline phosphatase activity Atretic vas deferens Abnormality of endocrine pancreas physiology Abnormality of exocrine pancreas physiology Aplasia/Hypoplasia of the pancreas Nonimmune hydrops fetalis Histiocytosis Tubulointerstitial nephritis Cranial nerve paralysis Pericarditis Abnormal heart valve morphology Interstitial pulmonary abnormality Coronary artery atherosclerosis Hyponatremia Scaling skin Hypoalbuminemia Ischemic stroke Meningitis Psychomotor deterioration Mitral regurgitation Myocardial infarction Hematuria Respiratory tract infection Sensorineural hearing impairment Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Pharyngitis



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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