Muscular hypotonia, and Ascites

Diseases related with Muscular hypotonia and Ascites

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

Top matches:

Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia.

ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS Is also known as acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Generalized hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Myopathy
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE DUE TO SYNTHESIS DEFECT OF MTDNA-ENCODED PROTEINS

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Medium match USP18 DEFICIENCY

Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hepatomegaly
  • Ventriculomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about USP18 DEFICIENCY

Other less relevant matches:

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

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

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

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

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

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.

MUCOPOLYSACCHARIDOSIS TYPE 7 Is also known as mpsvii|beta-glucuronidase deficiency|sly disease|mucopolysaccharidosis type vii|mps7

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Short neck
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 7

Mitochondrial DNA depletion syndrome-3 is a severe autosomal recessive disorder characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. Affected tissues show both decreased activity of the mtDNA-encoded respiratory chain complexes (I, III, IV, and V) and mtDNA depletion (Mandel et al., 2001).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM DUE TO DGUOK DEFICIENCY

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Ascites

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Lactic acidosis Metabolic acidosis Hepatosplenomegaly Cardiomyopathy Splenomegaly Hepatic failure Myopathy Hepatic steatosis Vomiting Intellectual disability Hypertrophic cardiomyopathy Feeding difficulties Bradycardia Edema Jaundice Elevated hepatic transaminase Microcephaly Growth delay Hypoglycemia Congestive heart failure Cirrhosis Portal hypertension Increased serum lactate

Rare Symptoms - Less than 30% cases

Hydrops fetalis Thrombocytopenia Esophageal varix Ataxia Respiratory failure Abnormality of the liver Global developmental delay Periportal fibrosis Decreased liver function Hypertension Bone-marrow foam cells Hepatic fibrosis Sinus bradycardia Exercise intolerance Spasticity Umbilical hernia Cardiomegaly Respiratory insufficiency Muscle weakness Severe lactic acidosis Dilated cardiomyopathy Decreased activity of mitochondrial respiratory chain Feeding difficulties in infancy Acute hepatic failure Mitochondrial myopathy Abnormality of the coagulation cascade Hyperbilirubinemia Hypoalbuminemia Encephalopathy Abdominal distention Dystonia Generalized edema Progressive neurologic deterioration Proximal muscle weakness Hyperlordosis Skeletal muscle atrophy Difficulty walking Polyhydramnios Dyspnea Hyporeflexia Abnormal lung morphology Psychosis Stereotypy Talipes equinovarus Cataplexy Peripheral neuropathy Prolonged neonatal jaundice Perseveration Visceromegaly Supranuclear gaze palsy Loss of speech Fetal ascites Sea-blue histiocytosis Neurofibrillary tangles Interstitial pulmonary abnormality Flexion contracture Aphasia Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Athetosis Oral-pharyngeal dysphagia Vertical supranuclear gaze palsy Muscular dystrophy Fetal akinesia sequence Arthrogryposis multiplex congenita Cholestasis Diaphyseal thickening Mucopolysacchariduria Anterior beaking of lumbar vertebrae Anterior beaking of lower thoracic vertebrae Nystagmus Hyperreflexia Cerebral atrophy Abnormality of the nervous system Ophthalmoplegia Polyneuropathy Aminoaciduria Abnormality of the pleura External ophthalmoplegia Ragged-red muscle fibers Hyponatremia Progressive external ophthalmoplegia Severe failure to thrive Hypothermia Episodic vomiting Generalized aminoaciduria Micronodular cirrhosis Hepatocellular necrosis Abnormal conjugate eye movement Enlarged thorax Arteriovenous malformation Limb muscle weakness Scoliosis Sudden cardiac death Waddling gait Decreased fetal movement Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Exertional dyspnea Tubulointerstitial fibrosis Limb joint contracture Short neck Epiphyseal stippling Neurodegeneration Inguinal hernia Recurrent respiratory infections Coarse facial features Joint stiffness Corneal opacity Flat face Hepatitis Lymphedema Metatarsus adductus Abnormality of the hip bone Bradykinesia Pulmonary edema Dyskinesia Petechiae Lethargy Polymicrogyria Cerebral calcification Heterotopia Pachygyria Aspiration Intracranial hemorrhage Cerebral hemorrhage Dilation of lateral ventricles Patent ductus arteriosus Short stature Anemia Fever Diarrhea Hernia Weight loss Developmental regression Scarring Malabsorption Cerebellar hypoplasia Ventriculomegaly Hypertriglyceridemia Hypoplasia of the corpus callosum Irritability Aciduria Conjugated hyperbilirubinemia Microvesicular hepatic steatosis Hypersplenism Macrovesicular hepatic steatosis Mitochondrial respiratory chain defects Low-set ears Posteriorly rotated ears Chronic metabolic acidosis Retrognathia Muscular hypotonia of the trunk Tetraplegia Delayed myelination Spastic tetraplegia Leukoencephalopathy Redundant neck skin Abnormality of the renal tubule Abnormality of the amniotic fluid Pulmonary arterial hypertension Leukodystrophy Paralysis Tachycardia Biventricular hypertrophy Shortened PR interval Cognitive impairment Motor delay Optic atrophy Arrhythmia Small for gestational age Poor speech Infantile muscular hypotonia Enlarged kidney Pleural effusion Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Hyperalaninemia Dysarthria Dysphagia Dementia Mental deterioration Myoglobinuria Neonatal hypoglycemia Increased body weight Hyperlipoproteinemia Atherosclerosis Hyperlipidemia Hypercholesterolemia Cachexia Malnutrition Steatorrhea Protuberant abdomen Abnormality of lipid metabolism Foam cells Vacuolated lymphocytes Heart murmur Low-grade fever Adrenal calcification Micrognathia Abnormal facial shape Respiratory distress Myalgia Macroglossia Hypotension Cyanosis Depletion of mitochondrial DNA in liver


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