Autoimmunity, and Jaundice

Diseases related with Autoimmunity and Jaundice

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

Top matches:

Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Other less relevant matches:

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

Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Top 5 symptoms//phenotypes associated to Autoimmunity and Jaundice

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatitis Elevated hepatic transaminase Fever Hyperbilirubinemia Thrombocytopenia Ascites Abnormality of the liver Renal insufficiency Pruritus Cirrhosis Hemolytic anemia Skin rash Malabsorption Celiac disease Feeding difficulties Generalized hypotonia Global developmental delay Cholangitis Prolonged neonatal jaundice Encephalopathy Cholestasis Seizures Pain Osteoporosis Hypertension Vomiting Hepatosplenomegaly Recurrent infections Short stature Systemic lupus erythematosus Abnormality of the skeletal system Cholelithiasis Intellectual disability Reticulocytosis

Rare Symptoms - Less than 30% cases

Brain atrophy Palmar telangiectasia Ptosis Scarring Weight loss High palate Intellectual disability, mild Obesity Xerostomia Biliary cirrhosis Antinuclear antibody positivity Keratoconjunctivitis sicca Elevated erythrocyte sedimentation rate Elevated alkaline phosphatase Encephalitis Skin ulcer Hirsutism Abnormality of the middle ear Abnormal facial shape Micrognathia Feeding difficulties in infancy Intellectual disability, severe Pneumonia Petechiae Respiratory insufficiency Strabismus Microcephaly Failure to thrive Muscular hypotonia Cholestatic liver disease Hepatocellular carcinoma Hearing impairment Osteopenia Abnormality of the thyroid gland Portal hypertension Depressivity Thyroiditis Sclerosing cholangitis Hypoalbuminemia Hepatic fibrosis Dilatation Pancreatitis Elliptocytosis Paralysis Abnormal bleeding Coma Headache Nausea Confusion Nausea and vomiting Abnormality of the kidney Purpura Abdominal pain Pallor Schistocytosis Dehydration Hyperkalemia Esophageal varix Spherocytosis Increased serum lactate Increased serum ferritin Glomerulonephritis Autoimmune thrombocytopenia Autoimmune hemolytic anemia Erythema Atrial septal defect Ventricular septal defect Delayed puberty Myopia Wide nasal bridge Brachydactyly Epicanthus Delayed speech and language development Cleft palate Cryptorchidism Visual impairment Growth delay Scoliosis Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the dentition Kyphosis White forelock Palpitations Joint laxity Anxiety Hydronephrosis Hypoglycemia Pes planus Macrotia Hypothyroidism Micropenis Immunodeficiency Posteriorly rotated ears Severe short stature Abnormal heart morphology Visual loss Patent ductus arteriosus Clinodactyly Hypospadias Hernia Cardiomyopathy Concave nasal ridge Depressed nasal bridge Hypertrophic cardiomyopathy Depressed nasal ridge Abnormality of metabolism/homeostasis Cutaneous photosensitivity Low posterior hairline Convex nasal ridge Asthma Palmoplantar keratoderma Dry skin Malar flattening Arachnodactyly Recurrent respiratory infections Genu valgum Prominent forehead Carious teeth Papule Hyperkeratosis High forehead Inflammatory abnormality of the skin Short nose Proptosis Intellectual disability, moderate Chronic lung disease Hypoplasia of the zygomatic bone Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Abnormality of the fingernails Thin skin Generalized hirsutism Recurrent pneumonia Bilateral single transverse palmar creases Low anterior hairline Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Downslanted palpebral fissures Reduced bone mineral density Elevated serum creatinine Postnatal growth retardation Short columella Trichorrhexis nodosa Broad philtrum Small face Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Depressed nasal tip Patellar dislocation Recurrent ear infections Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Anal stenosis IgA deficiency Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Anterior plagiocephaly Ureteropelvic junction obstruction Long palpebral fissure Liver abscess Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Single ventricle Diaphragmatic eventration Crossed fused renal ectopia Anorectal anomaly Common atrium Vertebral clefting Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Severe hearing impairment Right bundle branch block Abnormality of the pinna Hypodontia Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Single transverse palmar crease Blue sclerae Highly arched eyebrow Wide nose Polymicrogyria Joint hypermobility Anal atresia Abnormal cardiac septum morphology Coloboma Protruding ear Respiratory tract infection Coarctation of aorta Small nail Bundle branch block Abnormality of the urinary system Hydroureter Preauricular pit Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormal dermatoglyphics Recurrent otitis media Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Abnormal vertebral morphology Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Astigmatism Elevated alkaline phosphatase of hepatic origin Hypertelorism Onychomycosis Chronic hemolytic anemia Nystagmus Portal vein thrombosis Compensated hemolytic anemia Abnormality of the intrahepatic bile duct Dermatographic urticaria Increased IgM level Gastrointestinal inflammation Increased IgA level Antiphospholipid antibody positivity Recurrent fungal infections Hepatic encephalopathy Fat malabsorption Pyropoikilocytosis Recurrent thromboembolism Conjugated hyperbilirubinemia Allergy Excessive daytime somnolence Spasticity Cerebellar atrophy Abnormality of lipid metabolism Irritability Intellectual disability, profound Spastic tetraplegia Abnormality of extrapyramidal motor function Cerebral calcification Peripheral demyelination Tetraplegia Abnormality of the cerebral white matter Severe global developmental delay Generalized edema Dystonia Muscular hypotonia of the trunk Gastritis Cerebral cortical atrophy Glaucoma Agenesis of corpus callosum Intermittent jaundice Stomatocytosis Hemoglobinuria Cerebral atrophy Increased mean corpuscular hemoglobin concentration Osteomalacia Progressive microcephaly Myalgia Telangiectasia of the skin Steatorrhea Hemiparesis Telangiectasia Personality changes Gastrointestinal hemorrhage Acute kidney injury Arthritis Gastroesophageal reflux Irregular hyperpigmentation Microscopic hematuria Dysphagia Microangiopathic hemolytic anemia Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Hemolytic-uremic syndrome Abnormal renal physiology Scleroderma Raynaud phenomenon Increased intracellular sodium Hepatic failure Orthostatic hypotension Exercise-induced hemolysis Increased red cell hemolysis by shear stress Tremor Respiratory distress Hyperpigmentation of the skin Abdominal distention Sleep disturbance Arrhythmia Hematuria Proteinuria Generalized abnormality of skin Calcinosis cutis Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Abnormality of the gastric mucosa Lichenification Calcinosis Postnatal microcephaly Leukodystrophy Adenocarcinoma of the large intestine Ornithinuria Generalized amyotrophy Inflammation of the large intestine Pleural effusion Type I diabetes mellitus Respiratory failure Congestive heart failure Asterixis Argininuria Protein avoidance Edema Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Hyperlysinuria Micronodular cirrhosis Hemophagocytosis Glomerulopathy Amyloidosis Uveitis Malnutrition Chronic hepatic failure Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Preeclampsia Abnormal biliary tract morphology Vitamin K deficiency Acute hepatic failure Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Erythroid hypoplasia Abnormal eosinophil morphology Vitamin D deficiency Histiocytosis Prolonged prothrombin time Ulcerative colitis Truncal obesity Abnormality of the coagulation cascade Leukoencephalopathy Acrocyanosis CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Progressive encephalopathy Chronic CSF lymphocytosis Episodic fever Atrophy/Degeneration affecting the brainstem Basal ganglia calcification Congenital glaucoma Thromboembolism Spastic diplegia Poor head control Cerebral palsy Chilblains Deep white matter hypodensities Hyperextensible skin Metabolic acidosis Hyperammonemia Cutis laxa Leukopenia Aminoaciduria Fine hair Aciduria Postural instability Recurrent fractures Stage 5 chronic kidney disease Increased CSF interferon alpha Sparse hair Muscular dystrophy Acidosis Delayed skeletal maturation Skeletal muscle atrophy Cognitive impairment Limb-girdle muscular dystrophy Muscle weakness Pericardial effusion Congenital mitral stenosis


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