Generalized hypotonia, and Cirrhosis

Diseases related with Generalized hypotonia and Cirrhosis

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

Top matches:

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

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

Medium match MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

Medium 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

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26 Is also known as coxpd26

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 26

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

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Cirrhosis

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hepatic failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Cirrhosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hepatic fibrosis Intellectual disability Diarrhea Skeletal muscle atrophy Vomiting Anemia Hypercholesterolemia Decreased liver function Exercise intolerance Lactic acidosis Growth delay Acidosis Muscular hypotonia Elevated hepatic transaminase Motor delay Short stature Hepatosplenomegaly Malabsorption Hepatic steatosis Abnormality of the liver Dyspnea Myopathy Abdominal distention Hypertriglyceridemia Cardiomyopathy Hypoglycemia Ketosis Splenomegaly

Rare Symptoms - Less than 30% cases

Ascites Abnormal intestine morphology Increased serum lactate Jaundice Decreased serum ceruloplasmin Peripheral neuropathy Esophageal varix Edema Hypertension Exertional dyspnea Abnormality of the coagulation cascade Hyporeflexia Progressive muscle weakness Feeding difficulties Generalized edema Portal hypertension Seizures Ptosis Scarring Cholestasis Fatigue Hyperlipidemia Recurrent hypoglycemia Respiratory insufficiency Ragged-red muscle fibers Tubulointerstitial fibrosis Pulmonary arterial hypertension Hypoplasia of the corpus callosum Acute hepatic failure Abnormality of lipid metabolism Respiratory insufficiency due to muscle weakness Protuberant abdomen Steatorrhea Shock Tachypnea Malnutrition Limb joint contracture Cachexia Atherosclerosis Increased body weight Leukodystrophy Hyperammonemia Hyperlipoproteinemia Dysphagia Glucose intolerance Nystagmus Mitochondrial myopathy Gastrointestinal dysmotility Abnormal activity of mitochondrial respiratory chain Scoliosis Proximal tubulopathy Developmental regression Skeletal myopathy Fever Generalized amyotrophy Hernia Weight loss Umbilical hernia Foam cells Vacuolated lymphocytes Fetal akinesia sequence Arthrogryposis multiplex congenita Difficulty climbing stairs Myopathic facies Areflexia Akinesia Limb-girdle muscular dystrophy Respiratory failure Hypertrophic cardiomyopathy Reduced tendon reflexes Hydrops fetalis Decreased fetal movement Waddling gait Sudden cardiac death Limb muscle weakness Muscular hypotonia of the trunk Dilated cardiomyopathy Left ventricular hypertrophy Metabolic acidosis Low-grade fever Strabismus Periportal fibrosis Bone-marrow foam cells Adrenal calcification Flexion contracture Talipes equinovarus Muscular dystrophy Congestive heart failure Polyhydramnios Difficulty walking Proximal muscle weakness Lethargy Hyperlordosis Ventricular hypertrophy Villous atrophy Blue sclerae Elevated serum creatine phosphokinase Muscle stiffness Myoglobinuria Exercise-induced myalgia Increased hepatic glycogen content Increased muscle glycogen content Downslanted palpebral fissures Long face Nausea Prolonged neonatal jaundice Cholestatic liver disease Increased LDL cholesterol concentration Abnormal glycosylation Elevated alkaline phosphatase of bone origin Copper accumulation in liver Hearing impairment Muscle cramps Nausea and vomiting Cataract Abnormal lung morphology Fasting hypoglycemia Bile duct proliferation Portal fibrosis Hypoglycemic seizures Respiratory distress Hypothyroidism Cough Aminoaciduria Irritability Clubbing Interstitial pulmonary abnormality Severe failure to thrive Alveolar proteinosis Pain Headache Myalgia Sensorineural hearing impairment Upslanted palpebral fissure Delayed myelination Lymphangiectasis Type I transferrin isoform profile Microvesicular hepatic steatosis Intestinal lymphangiectasia Secretory diarrhea Reduced antithrombin III activity Reduced factor XI activity Spasticity Abnormal thrombosis Hyperreflexia Babinski sign Narrow mouth Poor speech Paresthesia Triangular face Brain atrophy Enterocolitis Protein-losing enteropathy Hyperkeratosis Apnea High forehead Erythema Ichthyosis Erythroderma Congenital sensorineural hearing impairment Intrahepatic cholestasis Hypocupremia Coma Congenital hepatic fibrosis Abnormal bleeding Gastrointestinal hemorrhage Chronic diarrhea Lymphedema Hypoalbuminemia Hyperinsulinemic hypoglycemia Hypoproteinemia Sideroblastic anemia


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