Arthritis, and Cholestasis

Diseases related with Arthritis and Cholestasis

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


Top matches:

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

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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 GENERALIZED PUSTULAR PSORIASIS


Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

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

Top 5 symptoms//phenotypes associated to Arthritis and Cholestasis

Symptoms // Phenotype % cases
Jaundice Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Fatigue Arthralgia Elevated hepatic transaminase Ascites Edema Cirrhosis Hepatosplenomegaly Intellectual disability Hepatitis Hepatic steatosis Skin rash Fever Decreased liver function Nausea Osteoporosis Nausea and vomiting Short stature Proteinuria Pain Arrhythmia Congestive heart failure Gout

Rare Symptoms - Less than 30% cases


Flexion contracture Prolonged neonatal jaundice Telangiectasia Osteomalacia Cholelithiasis Esophageal varix Elevated erythrocyte sedimentation rate Reticulocytosis Arthropathy Hepatic failure Hepatocellular carcinoma Hyperbilirubinemia Nephrolithiasis Increased reactive oxygen species production Erythema Abdominal pain Headache Acute hepatic failure Nephropathy Hirsutism Global developmental delay Hearing impairment Ataxia Joint swelling Infertility Diabetes mellitus Neoplasm of the liver Pruritus Spontaneous abortion Pericarditis Acute kidney injury Muscle weakness Cardiomyopathy Seizures Vomiting Kyphosis Myalgia Corneal opacity Failure to thrive Hemolytic anemia Increased total bilirubin Irritability Paresthesia Respiratory insufficiency Dysphagia Growth delay Neoplasm Glycosuria Leukocytosis Hydrops fetalis Osteoarthritis Dementia Abnormality of the nervous system Anxiety Spasticity Poor speech Rigidity Thrombocytopenia Peripheral axonal neuropathy Cerebral atrophy Dystonia Aggressive behavior Abnormality of the cerebral white matter Peripheral neuropathy Difficulty walking Depressivity Dysarthria Tremor Weight loss Confusion Metatarsus adductus Valgus hand deformity Polydactyly Limb undergrowth Macroglossia Short foot Postaxial polydactyly Talipes Genu valgum Pectus carinatum Umbilical hernia Severe short stature Abnormality of the ribs Inguinal hernia Hernia Talipes equinovarus Abnormality of the skeletal system Brachydactyly Scoliosis Abnormal gallbladder morphology Aseptic leukocyturia Postaxial hand polydactyly Short phalanx of finger Aplasia/Hypoplasia of metatarsal bones Dysostosis multiplex Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Short femur Short tibia Aortic regurgitation Fibular hypoplasia Short humerus Hallux valgus Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Joint hypermobility Abnormality of blood and blood-forming tissues Bruising susceptibility Periostitis Osteopenia Hypogonadism Alopecia Recurrent infections Oligoarthritis Geographic tongue Palmoplantar pustulosis Asthenia Dilated cardiomyopathy Neutrophilia Chills Cholangitis Furrowed tongue Parakeratosis Pustule Osteomyelitis Psoriasiform dermatitis Carcinoma Amenorrhea Nail dysplasia Restrictive cardiomyopathy Aceruloplasminemia Constrictive pericarditis Cholangiocarcinoma Increased serum iron Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Increased serum ferritin Cardiomegaly Abnormal joint morphology Impotence Pleural effusion Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Hepatic fibrosis Hyperpigmentation of the skin Epidermal acanthosis Nail dystrophy Polyneuropathy Nephrocalcinosis Abnormality of mitochondrial metabolism Hypercalciuria Back pain Abnormality of the hand Schizophrenia Drooling Leukoencephalopathy Leukopenia Aminoaciduria Oral-pharyngeal dysphagia Muscle stiffness Increased body weight Bone pain Involuntary movements Clumsiness Progressive neurologic deterioration Psychosis Coma Personality changes Global brain atrophy Atypical or prolonged hepatitis Abnormality of the menstrual cycle Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Retinoblastoma Pathologic fracture Proximal muscle weakness in lower limbs Menstrual irregularities Hyperphosphaturia Chondrocalcinosis Renal tubular dysfunction Hand tremor Hypoparathyroidism Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Conjunctivitis Abnormal emotion/affect behavior Abnormality of the dentition Joint hyperflexibility Abnormality of the kidney Mandibular prognathia Hypothyroidism Cerebral cortical atrophy Hypospadias Renal insufficiency Generalized abnormality of skin Renal cyst Calcinosis cutis Palmar telangiectasia Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Lichenification Stage 5 chronic kidney disease Renal agenesis Calcinosis Glucose intolerance Elevated serum creatinine Exocrine pancreatic insufficiency Renal cell carcinoma Proportionate short stature Hyperuricemia Glomerulopathy Hypoplasia of the uterus Unilateral renal agenesis Renal hypoplasia Polydipsia Pyloric stenosis Chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Horseshoe kidney Renal dysplasia Biliary cirrhosis Antinuclear antibody positivity Maturity-onset diabetes of the young Blindness Exercise intolerance Cerebral visual impairment Muscle cramps Limb muscle weakness Respiratory failure Elevated serum creatine phosphokinase Myopathy Reduced activity of N-acetylglucosaminyltransferase II Polycythemia 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 Easy fatigability Myoglobinuria Raynaud phenomenon Encephalitis Xerostomia Irregular hyperpigmentation Keratoconjunctivitis sicca Scleroderma Telangiectasia of the skin Steatorrhea Elevated alkaline phosphatase Skin ulcer Nonspherocytic hemolytic anemia Gastrointestinal hemorrhage Gastroesophageal reflux Reduced erythrocyte 2,3-diphosphoglycerate concentration Increased muscle glycogen content Exercise-induced myoglobinuria Exercise-induced muscle cramps Gastric ulcer Dark urine Bicornuate uterus Biliary tract abnormality Pyuria Ischemic stroke Aortic root aneurysm Abnormal heart valve morphology Interstitial pulmonary abnormality Coronary artery atherosclerosis Hyponatremia Scaling skin Hypoalbuminemia Cranial nerve paralysis Myocarditis Vasculitis Meningitis Mitral regurgitation Myocardial infarction Migraine Hematuria Lymphadenopathy Tubulointerstitial nephritis Allergy Dilatation Arteritis Arthralgia/arthritis Abnormality of nail color Coronary artery aneurysm Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Glossitis Abnormal myocardium morphology Abnormal oral mucosa morphology Cholecystitis Ascending tubular aorta aneurysm Synovitis Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent pharyngitis Respiratory tract infection Diarrhea Ureteropelvic junction obstruction Decreased numbers of nephrons 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 Papillary cystadenoma of the epididymis Recurrent respiratory infections Epididymal cyst Absent vas deferens Multiple glomerular cysts Renal cortical cysts Reduced sperm motility Renal Fanconi syndrome Uterus didelphys Pancreatic hypoplasia Respiratory distress Abnormality of the eye Ptosis Juvenile rheumatoid arthritis Sensorineural hearing impairment Lipogranulomatosis Periarticular subcutaneous nodules Cherry red spot of the macula Hoarse cry Psychomotor deterioration Histiocytosis Nonimmune hydrops fetalis Joint stiffness Weak cry Pulmonary fibrosis Decreased muscle mass Rheumatoid arthritis Laryngomalacia Abnormality of vision Hoarse voice Subcutaneous nodule Elevated transferrin saturation



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