Arthritis, and Abnormality of the liver

Diseases related with Arthritis and Abnormality of the liver

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


Top matches:

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

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Other less relevant matches:

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Low match IMMUNODEFICIENCY 57; IMD57


Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

Low match SITOSTEROLEMIA


Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Low match HEMOCHROMATOSIS TYPE 3


Type 3 hemochromatosis 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 3 Is also known as tfr2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Cardiomyopathy
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS TYPE 3

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 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY


Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

Top 5 symptoms//phenotypes associated to Arthritis and Abnormality of the liver

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cirrhosis Arthralgia Abdominal pain Skin rash Lymphopenia

Rare Symptoms - Less than 30% cases


Immunodeficiency Diarrhea Reticulocytosis Fatigue Psoriasiform dermatitis Decreased antibody level in blood Abnormality of the cardiovascular system Lymphadenopathy Hyperbilirubinemia Fever Abnormal lung morphology Growth delay Congestive heart failure Pain Gout Chronic hemolytic anemia Neutropenia Increased serum ferritin Xanthomatosis Impaired platelet aggregation Stomatocytosis Impotence Purpura Hypogonadotrophic hypogonadism Hyperpigmentation of the skin Amenorrhea Hypersplenism Elevated hepatic transaminase Premature coronary artery atherosclerosis Cardiomyopathy Hyperapobetalipoproteinemia Tuberous xanthoma Episodic hemolytic anemia Abnormality of the integument Accelerated atherosclerosis Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Hypertension Epidermal acanthosis Increased serum iron Palmoplantar pustulosis Impaired T cell function Verrucae Autoimmune thrombocytopenia Thyroiditis Autoimmune hemolytic anemia Interstitial pulmonary abnormality Recurrent upper respiratory tract infections Abnormal intestine morphology Eczema Respiratory tract infection Recurrent respiratory infections Thrombocytopenia Oligoarthritis Geographic tongue Periostitis Muscle weakness Leukocytosis Headache Erythema Nail dystrophy Nausea Nail dysplasia Coronary artery atherosclerosis Osteomyelitis Asthenia Pustule Parakeratosis Furrowed tongue Cholangitis Chills Neutrophilia Spinal cord compression Bronchiectasis Hypercholesterolemia Anemia of inadequate production Microcytic anemia Scarring Pallor Hypothyroidism Pneumonia Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Congenital hypoplastic anemia Chronic myelogenous leukemia Prolonged neonatal jaundice Hypochromic microcytic anemia Cholelithiasis Leukemia Jaundice Arrhythmia Increased serum zinc Pyoderma Abnormality of metabolism/homeostasis Decreased glomerular filtration rate Hepatic cysts Polycystic kidney dysplasia Renal cyst Stage 5 chronic kidney disease Abnormality of the kidney Abnormality of the pancreas Hypochromic anemia Atherosclerosis Serositis Abnormal bleeding Hemolytic anemia Paraplegia Short stature Bloody diarrhea Gastritis Chronic lung disease Inflammation of the large intestine Vasculitis Renal insufficiency Vomiting Failure to thrive Anterior uveitis Atransferrinemia Elevated C-reactive protein level Juvenile rheumatoid arthritis Joint swelling Uveitis Pericarditis Elevated erythrocyte sedimentation rate Rheumatoid arthritis Pleural effusion Falls Autoimmunity Myalgia Visual loss Visual impairment Decreased proportion of CD4-positive T cells



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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider
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