Growth delay, and Hypercholesterolemia

Diseases related with Growth delay and Hypercholesterolemia

In the following list you will find some of the most common rare diseases related to Growth delay and Hypercholesterolemia 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

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

Other less relevant matches:

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

Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis, and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS ), which is associated with heterozygous mutation in the CAV1 gene.

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3 Is also known as berardinelli-seip congenital lipodystrophy, type 3|bscl3|lipodystrophy, berardinelli-seip congenital, type 3

Related symptoms:

  • Short stature
  • Cataract
  • Diabetes mellitus
  • Hepatosplenomegaly
  • Congenital cataract


SOURCES: OMIM MESH MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3; CGL3

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

Medium match SITOSTEROLEMIA

Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.

SITOSTEROLEMIA Is also known as stsl|phytosterolemia

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Splenomegaly
  • Abdominal pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SITOSTEROLEMIA

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE Is also known as cnf|finnish congenital nephrosis|nephrotic syndrome, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Renal insufficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NEPHROTIC SYNDROME, FINNISH TYPE

Medium match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

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

Top 5 symptoms//phenotypes associated to Growth delay and Hypercholesterolemia

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

Other less frequent symptoms

Patients with Growth delay and Hypercholesterolemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Global developmental delay Hyperlipidemia Abdominal distention Cirrhosis Decreased liver function Ketosis Fatigue Scarring Anemia Generalized hypotonia Hepatic steatosis Splenomegaly Motor delay Hepatic fibrosis

Rare Symptoms - Less than 30% cases

Vomiting Small for gestational age Hemolytic anemia Abnormality of lipid metabolism Diarrhea Hyperbilirubinemia Hypoproteinemia Atherosclerosis Hepatosplenomegaly Pain Jaundice Abnormality of the liver Increased hepatic glycogen content Recurrent hypoglycemia Muscle weakness Elevated hepatic transaminase Focal segmental glomerulosclerosis Delayed puberty Brachydactyly Delayed skeletal maturation Severe short stature High forehead Hypoplasia of penis Delayed eruption of teeth Microdontia Micrognathia Blue sclerae Abnormality of the kidney Depressed nasal ridge Osteoarthritis Abnormal facial shape Heavy proteinuria Respiratory tract infection Delayed eruption of permanent teeth Neonatal respiratory distress Glomerulosclerosis Pyloric stenosis Abnormality of the renal tubule Diffuse mesangial sclerosis Hypoalbuminemia Nephrotic syndrome Tubular atrophy Steroid-resistant nephrotic syndrome Stage 5 chronic kidney disease Congenital nephrotic syndrome Mesangial hypercellularity Elevated amniotic fluid alpha-fetoprotein Podocyte foot process effacement Confusion Hypohidrosis Hernia Short toe Protuberant abdomen Leukodystrophy Increased body weight Cachexia Portal hypertension Malnutrition Steatorrhea Acute hepatic failure Ascites Esophageal varix Foam cells Hyperlipoproteinemia Vacuolated lymphocytes Low-grade fever Periportal fibrosis Bone-marrow foam cells Pulmonary arterial hypertension Hepatic failure Reduced number of teeth Abnormality of the endocrine system High pitched voice Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Abnormality of the elbow Abnormality of the skull Aplasia/Hypoplasia involving the nose Malabsorption Hypoplastic nasal bridge Hypertension Fever Gastroesophageal reflux Weight loss Umbilical hernia Developmental regression Proteinuria Xanthomatosis Hypothyroidism Insulin resistance Elevated plasma citrulline Cataract Diabetes mellitus Congenital cataract Hirsutism Neurodegeneration Hypocalcemia Giant cell hepatitis Acanthosis nigricans Lipodystrophy Reduced subcutaneous adipose tissue Generalized lipodystrophy Congenital generalized lipodystrophy Skeletal muscle atrophy Hypermethioninemia Hypergalactosemia Myalgia Fasting hypoglycemia Postnatal growth retardation Hyperuricemia Seizures Muscular hypotonia Acidosis Lactic acidosis Bile duct proliferation Decreased HDL cholesterol concentration Portal fibrosis Hypoglycemic seizures Abnormality of the nervous system Hepatitis Cholestasis Prolonged neonatal jaundice Intrahepatic cholestasis Headache Irritability Recurrent infections Chronic hemolytic anemia Hypersplenism Increased mean platelet volume Macrothrombocytopenia Xanthelasma Giant platelets Premature coronary artery atherosclerosis Accelerated atherosclerosis Impaired platelet aggregation Abnormality of the integument Episodic hemolytic anemia Tuberous xanthoma Hyperapobetalipoproteinemia Edema Renal insufficiency Stomatocytosis Spinal cord compression Nausea and vomiting Exercise-induced myalgia Nausea Muscle cramps Progressive muscle weakness Muscle stiffness Exercise intolerance Myoglobinuria Increased muscle glycogen content Reticulocytosis Abdominal pain Arthralgia Arthritis Paraplegia Abnormal bleeding Abnormality of the cardiovascular system Coronary artery atherosclerosis Adrenal calcification


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Mendelian tool does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider This service is using Human Phenotype Ontology (Build #1700 - Oct 2017). Find out more at www.human-phenotype-ontology.org.

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