Anemia, and Hepatic steatosis

Diseases related with Anemia and Hepatic steatosis

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


Top matches:

Low match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY


Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

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Other less relevant matches:

Low match PORPHYRIA CUTANEA TARDA


Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).

PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type

Related symptoms:

  • Anemia
  • Edema
  • Alopecia
  • Carcinoma
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PORPHYRIA CUTANEA TARDA

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 MPI-CDG


MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

MPI-CDG Is also known as cdg-ib|cdg, gastrointestinal type|congenital disorder of glycosylation type ib|carbohydrate deficient glycoprotein syndrome type ib|saguenay-lac saint-jean syndrome|mpi deficiency|slsj syndrome|phosphomannose isomerase deficiency|cdg ib|cdgib|protein-losi

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MPI-CDG

Low match ABETALIPOPROTEINEMIA


Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

Low match OVERHYDRATED HEREDITARY STOMATOCYTOSIS


Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match LYSOSOMAL ACID LIPASE DEFICIENCY


Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

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

Symptoms // Phenotype % cases
Abnormality of the liver Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Hepatic failure Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Global developmental delay Hepatic fibrosis Diarrhea Malabsorption Edema Abnormality of the coagulation cascade Lactic acidosis Vomiting Fever Hemolytic anemia Jaundice Hypoglycemia

Rare Symptoms - Less than 30% cases


Intellectual disability Splenomegaly Hepatosplenomegaly Growth delay Microcytic anemia Acute hepatic failure Muscular hypotonia Decreased liver function Hepatitis Carcinoma Sudden cardiac death Scarring Abdominal pain Arrhythmia Hyperbilirubinemia Cardiomyopathy Pain Congenital hepatic fibrosis Chronic diarrhea Cough Hypoproteinemia Elevated hepatic transaminase Cholestasis Motor delay Respiratory distress Hypertriglyceridemia Ataxia Microvesicular hepatic steatosis Hypercholesterolemia Abnormality of lipid metabolism Abnormality of movement Spherocytosis Retinal degeneration Anisocytosis Rod-cone dystrophy Reticulocytosis Poikilocytosis Increased antibody level in blood Stomatocytosis Pulmonary fibrosis Intermittent jaundice Abnormality of mitochondrial metabolism Brittle hair Abnormality of retinal pigmentation Hydrops fetalis Acanthocytosis Hypocholesterolemia Decreased LDL cholesterol concentration Abetalipoproteinemia Increased HDL cholesterol concentration Steatocystoma multiplex Fat malabsorption Rigidity Dehydration Congenital hemolytic anemia Respiratory tract infection Pallor Nephropathy Renal cell carcinoma Reduced tendon reflexes Peripheral demyelination Sideroblastic anemia Postnatal growth retardation Increased red cell osmotic fragility Atherosclerosis Hernia Weight loss Umbilical hernia Developmental regression Ascites Abdominal distention Pulmonary arterial hypertension Leukodystrophy Increased body weight Hyperlipidemia Short stature Cachexia Portal hypertension Malnutrition Steatorrhea Protuberant abdomen Esophageal varix Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Hypertension Periportal fibrosis Increased intracellular sodium Abnormality of the genital system Muscle weakness Cryptorchidism Intrauterine growth retardation Optic atrophy Congestive heart failure Hypospadias Dilated cardiomyopathy Aciduria Decreased testicular size Mitral regurgitation Prolonged QT interval Normochromic microcytic anemia Hypokinesia Perineal hypospadias Thrombocytopenia Nonprogressive cerebellar ataxia Glutaric aciduria Testicular dysgenesis Noncompaction cardiomyopathy Bone-marrow foam cells 3-Methylglutaric aciduria Penile hypospadias 3-Methylglutaconic aciduria Abnormal bleeding Gait disturbance Erythema Frontal bossing Full cheeks Delayed gross motor development Long fingers Macrocytic anemia Long toe Alopecia Skin rash Microcephaly Abnormal blistering of the skin Cutaneous photosensitivity Hypertrichosis Inflammatory abnormality of the skin Thin skin Hyperpigmentation of the skin Generalized hirsutism Cerebral palsy Sensorineural hearing impairment Seizures Skin vesicle Elevated plasma citrulline Abnormality of the nervous system Small for gestational age Prolonged neonatal jaundice Intrahepatic cholestasis Decreased HDL cholesterol concentration Hypergalactosemia Giant cell hepatitis Hypermethioninemia Respiratory insufficiency Alveolar proteinosis Hypothyroidism Dyspnea Acidosis Abnormal lung morphology Aminoaciduria Clubbing Interstitial pulmonary abnormality Severe failure to thrive Hypopigmented skin patches Fragile skin Peripheral neuropathy Protein-losing enteropathy Coma Gastrointestinal hemorrhage Lymphedema Abnormal intestine morphology Hypoalbuminemia Hyperinsulinemic hypoglycemia Villous atrophy Generalized edema Abnormal thrombosis Increased serum ferritin Enterocolitis Type I transferrin isoform profile Intestinal lymphangiectasia Secretory diarrhea Reduced antithrombin III activity Reduced factor XI activity Lymphangiectasis Visual impairment Apnea Joint swelling Scleroderma Porphyrinuria Hepatocellular carcinoma Atypical scarring of skin Onycholysis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Hyperpigmentation in sun-exposed areas Generalized hyperpigmentation Cataract Fatigue Arthralgia Limitation of joint mobility Osteoarthritis Joint dislocation Glucose intolerance Impotence Adrenal calcification



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