Hepatomegaly, and Spinal muscular atrophy

Diseases related with Hepatomegaly and Spinal muscular atrophy

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

Top matches:

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS; see this term), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD) (see this term).

INFANTILE REFSUM DISEASE Is also known as adrenoleukodystrophy, autosomal neonatal|infantile phytanic acid storage disease|peroxisome biogenesis disorder (nald/ird)|ird|refsum disease, infantile|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE REFSUM DISEASE

GLYCOGEN STORAGE DISEASE IXB; GSD9B Is also known as gsd ixb|glycogenosis of liver and muscle, autosomal recessive|phosphorylase kinase deficiency of liver and muscle, autosomal recessive

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IXB; GSD9B

Other less relevant matches:

Medium match CCDC115-CDG

Congenital disorder of glycosylation type IIo (CDG2O) is an autosomal recessive metabolic disorder characterized by infantile onset of progressive liver failure, hypotonia, and delayed psychomotor development. Laboratory abnormalities include elevated liver enzymes, coagulation factor deficiencies, hypercholesterolemia, and low ceruloplasmin. Serum isoelectric focusing of proteins shows a combined defect of N- and O-glycosylation, suggestive of a Golgi defect (summary by Jansen et al., 2016).For a general discussion of CDGs, see CDG1A (OMIM ).

CCDC115-CDG Is also known as cdgiio|carbohydrate deficient glycoprotein syndrome type iio|congenital disorder of glycosylation type 2o|cdg-iio|cdg syndrome type iio|cdg iio|cdg2o|congenital disorder of glycosylation type iio

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ptosis
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CCDC115-CDG

Familial partial lipodystrophy-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as fpld6|lipe-related fpld|lipodystrophy, familial partial, associated with lipe mutations

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM ORPHANET MENDELIAN

More info about LIPE-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency|hepatic carnitine palmitoyl transferase i deficiency|carnitine palmitoyl transferase ia deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|l-cpt1 deficiency|cpt1a deficiency

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

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

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

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

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Generalized hypotonia Global developmental delay Fatigue Elevated serum creatine phosphokinase Short stature Hypertriglyceridemia Hypoglycemia Intellectual disability Myopathy Cirrhosis Hepatic fibrosis Coma Jaundice Exercise intolerance Renal tubular acidosis Hypertrophic cardiomyopathy Acidosis Hepatic steatosis Splenomegaly Arrhythmia Hepatosplenomegaly Behavioral abnormality Cardiomyopathy Progressive muscle weakness Spasticity Hyperlipidemia Optic atrophy Ataxia Growth delay Motor delay Failure to thrive Abnormality of the liver

Rare Symptoms - Less than 30% cases

Cardiomegaly Hyperammonemia Intellectual disability, mild Midface retrusion Hyperbilirubinemia Transient hyperlipidemia Fever Muscular dystrophy Loss of consciousness Hemiplegia/hemiparesis Reduced tendon reflexes Sudden cardiac death Hypercholesterolemia Increased hepatic glycogen content Lethargy Neurological speech impairment Abnormality of lipid metabolism Decreased liver function Diarrhea Vomiting Respiratory failure Lactic acidosis Sensorineural hearing impairment Abnormal facial shape Ptosis Anemia Irritability Hyperreflexia Feeding difficulties Insulin-resistant diabetes mellitus Reticulocytosis Hemolytic anemia Ascites Dehydration Hepatitis Strabismus Cholelithiasis Limb-girdle muscular dystrophy Hyperkalemia Pericardial effusion Thromboembolism Increased serum ferritin Pallor Esophageal varix Generalized edema Spherocytosis Elliptocytosis Gastritis Intermittent jaundice Stomatocytosis Hemoglobinuria Antiphospholipid antibody positivity Insulin resistance Acanthosis nigricans Edema Oligomenorrhea Marked muscular hypertrophy Respiratory insufficiency Menstrual irregularities Proximal muscle weakness in lower limbs Abdominal obesity Loss of subcutaneous adipose tissue in limbs Proximal muscle weakness in upper limbs Decreased serum leptin Increased adipose tissue around the neck Loss of gluteal subcutaneous adipose tissue Increased intraabdominal fat Decreased adiponectin level Respiratory distress Abnormality of the labia majora Abnormality of metabolism/homeostasis Ventriculomegaly Dysarthria Reduced subcutaneous adipose tissue Hypertension Portal vein thrombosis Difficulty climbing stairs Lipodystrophy Polycystic ovaries Chronic hemolytic anemia Hemiparesis Proximal muscle weakness Neurodevelopmental delay Depressed nasal bridge Immunodeficiency Thin upper lip vermilion Deeply set eye Peripheral axonal neuropathy Thin vermilion border Distal amyotrophy Broad nasal tip Full cheeks Microcephaly Ventricular hypertrophy Left ventricular hypertrophy Increased muscle fatiguability Generalized limb muscle atrophy Sinus tachycardia Feeding difficulties in infancy Sepsis Elevated serum creatinine Conjugated hyperbilirubinemia Hypoketotic hypoglycemia Nonketotic hypoglycemia Prenatal maternal abnormality Hepatocellular necrosis Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Stuttering Dysmetric saccades Schistocytosis Gait ataxia Pyropoikilocytosis Recurrent thromboembolism Increased mean corpuscular hemoglobin concentration Increased intracellular sodium Exercise-induced hemolysis Increased red cell hemolysis by shear stress Peripheral neuropathy Tremor Talipes equinovarus Cerebellar atrophy Scoliosis Hyporeflexia Reduced visual acuity Saccadic smooth pursuit Distal muscle weakness Paresthesia Distal sensory impairment Progressive cerebellar ataxia Sensory impairment Intention tremor Frequent falls Sensorimotor neuropathy Foot dorsiflexor weakness Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Distal lower limb muscle weakness Compensated hemolytic anemia Copper accumulation in liver Diabetes mellitus Cataract Thoracolumbar kyphosis Respiratory arrest Microvesicular hepatic steatosis Hepatic encephalopathy Renal Fanconi syndrome Cytochrome C oxidase-negative muscle fibers Proximal renal tubular acidosis Increased intramyocellular lipid droplets Spastic hemiparesis Increased hepatocellular lipid droplets Hearing impairment Nystagmus Low-set ears Hyperphosphaturia High palate Delayed speech and language development Visual impairment Epicanthus Wide nasal bridge Anteverted nares Generalized muscle weakness Tetraplegia Absent speech Metabolic acidosis Rod-cone dystrophy Osteoporosis Periventricular leukomalacia Increased CSF lactate Neonatal hypotonia Hypercalciuria Status epilepticus Pulmonary arterial hypertension Congenital hip dislocation Aminoaciduria Spastic tetraplegia Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Leukoencephalopathy Tachypnea Pigmentary retinopathy Poor head control Poor suck Hemiplegia Renal tubular dysfunction Polydipsia Apathy Aciduria Myotonia Polyuria Exertional dyspnea Glycosuria Weak cry Increased serum lactate Progressive encephalopathy Mitochondrial myopathy Thoracolumbar scoliosis High forehead Facial palsy Progressive neurologic deterioration Exercise-induced myalgia Myalgia Scarring Nausea and vomiting Nausea Muscle cramps Abdominal distention Muscular hypotonia of the trunk Muscle stiffness Proteinuria Myoglobinuria Ketosis Recurrent hypoglycemia Kyphoscoliosis Headache Increased muscle glycogen content Downslanted palpebral fissures Encephalopathy Dilatation Kyphosis Long face Prolonged neonatal jaundice Cholestatic liver disease Increased LDL cholesterol concentration Abnormal glycosylation Elevated alkaline phosphatase of bone origin Decreased serum ceruloplasmin Apnea Hip dislocation Postnatal growth retardation Nephrolithiasis Respiratory tract infection Retinopathy Nyctalopia Dolichocephaly Congenital cataract Ichthyosis Limb muscle weakness Renal cyst Esotropia Convex nasal ridge Abnormality of the face Large fontanelles Abnormality of epiphysis morphology Pain Rhizomelia Generalized tonic-clonic seizures Leukodystrophy Impulsivity Constriction of peripheral visual field Severe hearing impairment Epiphyseal stippling Hypocholesterolemia Hyperoxaluria Progressive spinal muscular atrophy Very long chain fatty acid accumulation Elevated levels of phytanic acid Hyperemesis gravidarum


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Situs inversus totalis, related diseases and genetic alterations