Hepatomegaly, and Motor delay

Diseases related with Hepatomegaly and Motor delay

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

Top matches:

Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB ), gamma (PHKG2 ), and delta (CALM1 ). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (OMIM ), and GSD9C (OMIM ), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive.GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007).See also X-linked muscle PHK deficiency (GSD9D ), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1 ).

GLYCOGEN STORAGE DISEASE IXA1; GSD9A1 Is also known as glycogen storage disease viii, formerly|gsd8, formerly|gsd viii, formerly|liver glycogenosis, x-linked, type i|xlg1

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXA1; GSD9A1

Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY Is also known as gsd type ixc|gsd due to liver phosphorylase kinase deficiency|xlg|glycogen storage disease type 9c|glycogen storage disease type 9a|gsd ixc|gsd type 9c|glycogen storage disease type ixc|glycogenosis due to liver phosphorylase kinase deficiency|glycogenosi

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY

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

Other less relevant matches:

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

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

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Motor delay

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Motor delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Elevated hepatic transaminase Lactic acidosis Muscular hypotonia Hepatic fibrosis Muscle weakness Abnormality of the liver Hypoglycemia Vomiting Cardiomegaly Feeding difficulties Short stature Hepatic failure Cirrhosis Hypertriglyceridemia Acidosis Splenomegaly Hepatic steatosis Decreased liver function Hyperlipidemia Seizures

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Hepatosplenomegaly Delayed gross motor development Optic atrophy Arrhythmia Hypertrophic cardiomyopathy Microcephaly Intellectual disability, mild Full cheeks Cardiomyopathy Left ventricular hypertrophy Cognitive impairment Acute hepatic failure Ataxia Spasticity Elevated serum creatine phosphokinase Aminoaciduria Ketosis Hypercholesterolemia Fatigue Anemia Respiratory insufficiency Epigastric pain Exercise intolerance Hepatoblastoma Chronic hepatitis Chronic infection Ventricular hypertrophy Elevated alpha-fetoprotein Giant cell hepatitis Embryonal neoplasm Broad nasal tip Myopathy Portal vein thrombosis Distal amyotrophy Hepatic necrosis Thin vermilion border Peripheral axonal neuropathy Deeply set eye Thin upper lip vermilion Neurodevelopmental delay Viral hepatitis Subacute progressive viral hepatitis Depressed nasal bridge Midface retrusion Immunodeficiency Micronodular cirrhosis Bowel incontinence Abnormality of lipid metabolism Infantile muscular hypotonia Poor speech Tachycardia Metabolic acidosis Ascites Increased serum lactate Bradycardia Pleural effusion Encephalopathy Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Sinus bradycardia Severe lactic acidosis Hyperalaninemia Small for gestational age Dystonia Increased muscle fatiguability Macroglossia Sinus tachycardia Increased hepatic glycogen content Dysphagia Dilatation Gastroesophageal reflux Limb muscle weakness Urinary incontinence Congestive heart failure Progressive muscle weakness Neoplasm of the liver Abnormality of refraction Diaphragmatic weakness Increased muscle glycogen content Abnormality of lysosomal metabolism Hypertyrosinemia Sensory impairment Thrombocytosis Alveolar proteinosis Long fingers Abnormality of the coagulation cascade Frontal bossing Impairment of galactose metabolism Galactosuria Hypergalactosemia Aciduria Nausea and vomiting Jaundice Weight loss Intellectual disability, severe Delayed speech and language development Cataract Hearing impairment Severe failure to thrive Macrocytic anemia Hypoglycemic seizures Hyperuricemia Abdominal distention Recurrent hypoglycemia Fasting hypoglycemia Bile duct proliferation Portal fibrosis Respiratory distress Interstitial pulmonary abnormality Hypothyroidism Dyspnea Cough Cholestasis Abnormal lung morphology Clubbing Microcytic anemia Long toe Hepatocellular carcinoma Foot dorsiflexor weakness Type II diabetes mellitus Hepatitis Carcinoma Abdominal pain Obesity Cryptorchidism Neoplasm Stuttering Generalized limb muscle atrophy Dysmetric saccades Saccadic smooth pursuit Distal lower limb muscle weakness Progressive gait ataxia Cerebellar vermis atrophy Sensorimotor neuropathy Peripheral neuropathy Hyporeflexia Hyperreflexia Fever Skeletal muscle atrophy Tremor Talipes equinovarus Cerebellar atrophy Gait ataxia Frequent falls Reduced visual acuity Distal muscle weakness Paresthesia Distal sensory impairment Progressive cerebellar ataxia Intention tremor Decreased activity of mitochondrial respiratory chain


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