Arthritis, and Hepatic steatosis

Diseases related with Arthritis and Hepatic steatosis

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


Top matches:

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 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

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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 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 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6


Polycystic kidney disease-6 is an autosomal dominant renal disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade. The cysts are generally small (less than 1 to 3 cm) and the kidneys are not massively enlarged. Some patients may have evidence of chronic interstitial fibrosis and about half develop liver cysts (summary by Cornec-Le Gall et al., 2018).For a discussion of genetic heterogeneity of polycystic kidney disease, see PKD1 (OMIM ).

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Abnormality of the kidney
  • Stage 5 chronic kidney disease
  • Renal cyst


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6

Low match HYPERZINCEMIA AND HYPERCALPROTECTINEMIA


Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

HYPERZINCEMIA AND HYPERCALPROTECTINEMIA Is also known as recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome|albumin binding of zinc, elevated|hyperzincemia, familial dysalbuminemic

Related symptoms:

  • Growth delay
  • Anemia
  • Recurrent infections
  • Abnormality of metabolism/homeostasis
  • Hepatosplenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERZINCEMIA AND HYPERCALPROTECTINEMIA

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

Top 5 symptoms//phenotypes associated to Arthritis and Hepatic steatosis

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Neoplasm Hepatomegaly Splenomegaly Pain Failure to thrive Infertility Osteoporosis Gout Elevated hepatic transaminase Cataract Ataxia Dementia Hypertension Osteoarthritis Fatigue Cardiomyopathy Arrhythmia Hearing impairment Arthralgia Renal insufficiency Jaundice Hepatosplenomegaly Proteinuria

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Cerebral cortical atrophy Abnormality of the kidney Short stature Stage 5 chronic kidney disease Nephropathy Global developmental delay Renal cyst Macrotia Tremor Nephrolithiasis Glycosuria Abnormal facial shape Renal cell carcinoma Thrombocytopenia Depressivity Weight loss Difficulty walking Confusion Paresthesia Aminoaciduria Joint hypermobility Hemolytic anemia Psychosis Seizures Hip dislocation Impotence Hypogonadism Hepatic failure Increased serum ferritin Joint swelling Broad-based gait Hepatitis Dilated cardiomyopathy Recurrent infections Cardiomegaly Glucose intolerance Carcinoma Osteopenia Insulin resistance Hypogonadotrophic hypogonadism Diabetes mellitus Alopecia Ascites Increased reactive oxygen species production Abdominal pain Atherosclerosis Limitation of joint mobility Arthropathy Acute hepatic failure Neoplasm of the liver Hepatocellular carcinoma Hepatic fibrosis Osteomalacia Abnormality of the cardiovascular system Cyanosis Growth hormone deficiency Convex nasal ridge Chest pain Hypertriglyceridemia Hypodontia Delayed eruption of teeth Thin vermilion border Myocardial infarction Nail dysplasia Chronic hemolytic anemia Thin skin Increased bone mineral density Megaloblastic anemia Hypercholesterolemia Acanthosis nigricans Hyperlipidemia Osteolysis Cor pulmonale Coxa valga Hypergonadotropic hypogonadism Aspiration Decreased body weight Aortic valve stenosis Sparse and thin eyebrow Hypohidrosis Dental crowding Narrow chest Methylmalonic aciduria Homocystinuria Left ventricular hypertrophy Delayed puberty Dyspnea Carious teeth Atrophy of the spinal cord Myelopathy Cystathioninemia Gastritis Dermal atrophy Right ventricular failure Hemolytic-uremic syndrome Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Scoliosis Methylmalonic acidemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Thyroglossal cyst Micrognathia Hypotrichosis Proptosis Hypermetropia Microtia Stroke Sparse hair Joint stiffness Hypertrophic cardiomyopathy Conductive hearing impairment Abnormality of macular pigmentation Narrow mouth Sensorineural hearing impairment Prominent forehead Midface retrusion Malar flattening Short nose Kyphosis Abnormality of the skeletal system Macrocephaly Skeletal muscle atrophy Flexion contracture Relative macrocephaly Fragile nails Nasal speech Prominent scalp veins Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Bird-like facies Abnormal trabecular bone morphology Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Insulin-resistant diabetes mellitus at puberty Regional abnormality of skin Absence of subcutaneous fat Prolonged neonatal jaundice Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Congenital hypoplastic anemia Chronic myelogenous leukemia Anemia of inadequate production Reticulocytosis Cholelithiasis Arteriosclerosis of small cerebral arteries Hyperbilirubinemia Leukemia Increased serum zinc Pyoderma Abnormality of metabolism/homeostasis Decreased glomerular filtration rate Hepatic cysts Polycystic kidney dysplasia Tapering pointed ends of distal finger phalanges Thin nail Hip pain Intracranial hemorrhage Prolonged QT interval Alopecia of scalp Short clavicles Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Lipoatrophy Exertional dyspnea Premature graying of hair Abnormal EKG High pitched voice Multiple joint contractures Heart murmur Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Thrombocytosis Absent eyelashes Aplastic clavicle Aplasia/Hypoplasia of the earlobes Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Small face Transient ischemic attack Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Disproportionate tall stature Thromboembolism Feeding difficulties Apathy Reduced sperm motility 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 Renal Fanconi syndrome Abnormality of endocrine pancreas physiology Uterus didelphys Pancreatic hypoplasia Ureteropelvic junction obstruction Biliary tract abnormality Maturity-onset diabetes of the young Bicornuate uterus Elevated serum creatinine Exocrine pancreatic insufficiency Abnormality of exocrine pancreas physiology Atretic vas deferens Acute kidney injury Anxiety Nausea Peripheral axonal neuropathy Poor speech Nausea and vomiting Abnormality of the cerebral white matter Pruritus Aggressive behavior Abnormality of the nervous system Rigidity Abnormality of alkaline phosphatase activity Cerebral atrophy Dystonia Vomiting Edema Dysphagia Dysarthria Peripheral neuropathy Spasticity Proportionate short stature Hyperuricemia Polyneuropathy Pleural effusion Microvesicular hepatic steatosis Abnormal glucose tolerance Alcoholism Testicular atrophy Restrictive cardiomyopathy Pericarditis Abnormal joint morphology Azoospermia Cholangiocarcinoma Hyperpigmentation of the skin Telangiectasia Amenorrhea Congenital hepatic fibrosis Generalized hyperpigmentation Joint dislocation Scarring Respiratory distress Increased serum iron Constrictive pericarditis Glomerulopathy Horseshoe kidney Hypoplasia of the uterus Unilateral renal agenesis Polydipsia Pyloric stenosis Chronic kidney disease Spastic paraparesis Multicystic kidney dysplasia Paraparesis Renal dysplasia Aceruloplasminemia Renal hypoplasia Renal agenesis Hirsutism Joint hyperflexibility Mandibular prognathia Hypothyroidism Hypospadias Elevated transferrin saturation Bruising susceptibility Coma Ectopia lentis Reduced visual acuity Congenital cataract Lethargy Retinopathy Feeding difficulties in infancy Mental deterioration High forehead Acidosis Gait ataxia Lower limb muscle weakness Intellectual disability, severe Hydrocephalus Respiratory insufficiency Visual impairment Low-set ears Muscular hypotonia Muscle weakness Nystagmus Malabsorption Smooth philtrum Generalized hypotonia Pigmentary retinopathy Hemiplegia Slurred speech Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Memory impairment Unsteady gait Aciduria Urinary incontinence Neutropenia Metabolic acidosis Hematuria Long face Abnormality of skin pigmentation Retinal degeneration Microcephaly Atypical or prolonged hepatitis Progressive neurologic deterioration Leukopenia Abnormality of mitochondrial metabolism Hypercalciuria Back pain Abnormality of the hand Schizophrenia Drooling Leukoencephalopathy Nephrocalcinosis Oral-pharyngeal dysphagia Spontaneous abortion Muscle stiffness Increased body weight Bone pain Decreased liver function Involuntary movements Clumsiness Cholestasis Personality changes Global brain atrophy Kayser-Fleischer ring Retinoblastoma Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Proximal muscle weakness in lower limbs Pathologic fracture Menstrual irregularities Hyperphosphaturia Esophageal varix Chondrocalcinosis Renal tubular dysfunction Hand tremor Hypoparathyroidism Abnormality of blood and blood-forming tissues Reduced activity of N-acetylglucosaminyltransferase II



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