Global developmental delay, and Hyperlipidemia

Diseases related with Global developmental delay and Hyperlipidemia

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

Top matches:

GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

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

Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

Other less relevant 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

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.

GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY Is also known as gsd 0a|gsd type 0a|glycogen storage disease type 0a|glycogen storage disease due to liver glycogen synthase deficiency|glycogenosis type 0a|hypoglycemia with deficiency of glycogen synthetase in the liver|gsd due to hepatic glycogen synthase deficiency|li

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Fatigue


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO HEPATIC GLYCOGEN SYNTHASE DEFICIENCY

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

FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Griscelli syndrome type 1 (GS1) represents hypomelanosis with a primary neurologic deficit and without immunologic impairment or manifestations of hemophagocytic syndrome (Menasche et al., 2002). Griscelli syndrome with immune impairment, or Griscelli syndrome type 2 (OMIM ), is caused by mutation in the RAB27A gene (OMIM ). Griscelli syndrome type 3 (OMIM ), characterized by hypomelanosis with no immunologic or neurologic manifestations, can be caused by mutation in the melanophilin (MLPH ) or MYO5A genes.Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. While most patients also develop hemophagocytic syndrome, leading to death in the absence of bone marrow transplantation (Menasche et al., 2000), some show severe neurologic impairment early in life without apparent immune abnormalities. Bahadoran et al. (2003) characterized GS1 as comprising hypomelanosis and severe central nervous system dysfunction, corresponding to the 'dilute' phenotype in the mouse, and GS2 as comprising hypomelanosis and lymphohistiocytotic hemophagocytosis, corresponding to the 'ashen' phenotype in mouse.Anikster et al. (2002), Menasche et al. (2002), Huizing et al. (2002), and {3,2:Bahadoran et al. (2003, 2003)} suggested that Elejalde syndrome (OMIM ) in some patients and GS1 represent the same entity.

GRISCELLI SYNDROME TYPE 1 Is also known as partial albinism and primary neurologic disease without hemophagocytic syndrome|griscelli syndrome, cutaneous and neurologic type|griscelli-pruni√Čras syndrome type 1|hypopigmentation-neurologic impairment syndrome|griscelli syndrome with neurologic impair

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about GRISCELLI SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to Global developmental delay and Hyperlipidemia

Symptoms // Phenotype % cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Hypoglycemia Common - Between 50% and 80% cases
Hypercholesterolemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Global developmental delay and Hyperlipidemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Seizures Ketosis Short stature Growth delay Generalized hypotonia Fatigue Decreased liver function Splenomegaly Cirrhosis Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases

Abdominal distention Hepatic fibrosis Irritability Recurrent hypoglycemia Fasting hypoglycemia Abnormality of the nervous system Muscle weakness Lethargy Muscular hypotonia Pain Hepatosplenomegaly Hemophagocytosis Anemia Increased hepatic glycogen content Motor delay Muscle stiffness Pancreatitis Abdominal pain Encephalopathy Cerebral atrophy Macrocephaly Increased muscle glycogen content Exercise-induced myalgia Myoglobinuria Exercise intolerance Freckling Progressive muscle weakness Episodic abdominal pain Nausea Accumulation of melanosomes in melanocytes Nausea and vomiting Scarring Myalgia Headache Diarrhea Vomiting Skeletal muscle atrophy Muscle cramps Chronic pancreatitis Hyperlipoproteinemia Generalized bronze hyperpigmentation Iris hypopigmentation Premature graying of hair Severe muscular hypotonia White hair Partial albinism Silver-gray hair Diplopia Exotropia Cerebral calcification Elevated plasma branched chain amino acids Abnormality of movement Epigastric pain Retinopathy Recurrent infections Hypertonia Spasticity Nystagmus Ataxia Scoliosis Increased circulating chylomicron concentration Lipemia retinalis Eruptive xanthomas Hypopigmentation of the skin Febrile seizures Ketotic hypoglycemia Hypoglycemic seizures Abnormality of lipid metabolism Prolonged neonatal jaundice Hyperbilirubinemia Cholestasis Hepatitis Hepatic steatosis Hemolytic anemia Small for gestational age Abnormality of the liver Jaundice Portal fibrosis Hypoproteinemia Bile duct proliferation Lactic acidosis Acidosis Hypofibrinogenemia Increased serum ferritin Neutropenia Thrombocytopenia Fever Hyperuricemia Postnatal growth retardation Intrahepatic cholestasis Decreased HDL cholesterol concentration Postprandial hyperglycemia Incoordination Abnormality of the gastrointestinal tract Ketonuria Neonatal hypoglycemia Drowsiness Glycosuria Hyperglycemia Increased serum lactate Confusion Pallor Dysplastic corpus callosum Finger clinodactyly Hypergalactosemia Generalized myoclonic seizures Hirsutism Aggressive behavior Autism Clinodactyly of the 5th finger Clinodactyly High palate Microcephaly Elevated plasma citrulline Hypermethioninemia Giant cell hepatitis Melanin pigment aggregation in hair shafts


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