Generalized hypotonia, and Jaundice

Diseases related with Generalized hypotonia and Jaundice

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER); PBD8A

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

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

Other less relevant matches:

Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism (see this term) characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth.

RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME Is also known as trh resistance syndrome|central hypothyroidism due to trh receptor deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about RESISTANCE TO THYROTROPIN-RELEASING HORMONE SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

High 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

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Vomiting
  • Jaundice
  • Hypoglycemia


SOURCES: OMIM MESH MENDELIAN

More info about PREMATURE OVARIAN FAILURE 7; POF7

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 8; JBTS8

Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Cerebellar atrophy
  • Hypertonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOYL TRANSFERASE 1 DEFICIENCY

CRIGLER-NAJJAR SYNDROME, TYPE I Is also known as crigler-najjar syndrome|hyperbilirubinemia, crigler-najjar type i|hblrcn1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE I

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Prolonged neonatal jaundice Cataract Intellectual disability Elevated hepatic transaminase Feeding difficulties

Rare Symptoms - Less than 30% cases

Hyperbilirubinemia Delayed speech and language development Hearing impairment Growth delay Increased serum lactate Muscular hypotonia of the trunk Hypertonia Aciduria Splenomegaly Metabolic acidosis Acidosis Hepatic failure Lactic acidosis Feeding difficulties in infancy Occipital encephalocele Encephalocele Oculomotor apraxia Molar tooth sign on MRI Unconjugated hyperbilirubinemia Undetectable electroretinogram Hyperventilation Pigmentary retinopathy Hypertension Cerebellar atrophy Dystonia Neonatal hyperbilirubinemia Cerebral cortical atrophy Optic disc pallor Gait ataxia Abnormality of eye movement Abnormality of the eye Abnormality of the liver Obesity Absent speech Kernicterus Ataxia Absent pubic hair Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Renal salt wasting Primary adrenal insufficiency Secondary amenorrhea Hypoplasia of the uterus Developmental regression Coma Abnormality of the cerebral white matter Biliary tract abnormality Infantile muscular hypotonia Athetosis Leukodystrophy Clumsiness Memory impairment Lethargy EEG abnormality Encephalopathy Tremor Fever Cognitive impairment Opisthotonus Homocystinuria Spasticity Hyperkinesis Increased total bilirubin Oculomotor nerve palsy Severe lactic acidosis Clitoral hypertrophy Cardiorespiratory arrest Weak cry Mutism Spastic tetraparesis Bradycardia Decreased liver function Tetraparesis Pulmonary arterial hypertension Abnormality of extrapyramidal motor function Delayed myelination Adrenal insufficiency Hepatosplenomegaly Premature ovarian insufficiency Microvesicular hepatic steatosis Impairment of galactose metabolism Galactosuria Hypergalactosemia Delayed gross motor development Aminoaciduria Nausea and vomiting Weight loss Intellectual disability, severe Sensorineural hearing impairment Failure to thrive Mitochondrial respiratory chain defects Macrovesicular hepatic steatosis Hypersplenism Conjugated hyperbilirubinemia Hypothyroidism Acute hepatic failure Mitochondrial myopathy Abnormality of the coagulation cascade Hypoalbuminemia Abdominal distention Ascites Hepatic steatosis Irritability Myopathy Generalized neonatal hypotonia Glossoptosis Epiphyseal stippling Severe global developmental delay Ventricular septal defect Constipation Coarse facial features Primary amenorrhea Neurogenic bladder Hypoglycemia Copper accumulation in liver Decreased serum ceruloplasmin Elevated alkaline phosphatase of bone origin Abnormal glycosylation Increased LDL cholesterol concentration Cholestatic liver disease Hypercholesterolemia Long face Cirrhosis Elevated serum creatine phosphokinase Downslanted palpebral fissures Skeletal muscle atrophy Ptosis Inverted nipples Umbilical hernia Spastic paraparesis Nephrocalcinosis Paraparesis Spastic paraplegia High forehead Posteriorly rotated ears Hyperreflexia Low-set ears Nystagmus Large posterior fontanelle Large fontanelles Abnormality of the face Macroglossia Sleep disturbance High-pitched cry


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