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Showing 31 - 40 of 20248 pathways
SMPDB ID Pathway Chemical Compounds Proteins

SMP0000717

Pw000694 View Pathway
Disease

Apparent Mineralocorticoid Excess Syndrome

Apparent mineralocorticoid excess (AME), also known as cortisol 11-beta-ketoreductase deficiency, is an extremely rare inborn error of metabolism (IEM) and autosomal recessive disorder of the steroidogenesis pathway. It is caused by a mutation in the HSD11B2 gene which encodes for corticosteroid 11-beta-dehydrogenase isozyme 2, and enzyme that converts cortisol to cortisone in the cell. Without this enzyme being functional, an accumulation of tetrahydrocortisol builds up, while tetrahydrocortisone levels dissipate. AME is characterized excessive thirst and urination, and along with this, symptoms include low levels of aldosterone, failure to thrive and hypertension. Treatment with corticoids that suppress the secretion of cortisol within the body can affect blood pressure and aldosterone levels. Antihypertensive agents are also effective. It is estimated that AME affects less than 1 in 1,000,000 individuals, with less than 100 reported cases as of 2019.

SMP0000362

Pw000084 View Pathway
Disease

Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency)

Arginine: Glycine Amidinotransferase Deficiency (AGAT Deficiency, Creatine Deficiency Syndrome, Creatine Deficiency due to AGAT Deficiency, GATM Deficiency) is caused by mutation in the GATM gene, which codes for L-arginine:glycine amidinotransferase, which catalyzes the reaction between L-arginine and glycine, transferring an amidino group from L-arginine to glycine, producing L-ornithine and guanidinoacetate, a precursor of creatine. A defect in this enzyme causes a decrease in concentration of creatine and guanidinoacetate in plasma and urine. Symptoms include mental and motor retardation, seizures, and delayed or abnormal speech development.

SMP0000357

Pw000183 View Pathway
Disease

Argininemia

Argininemia is caused by a mutation in the gene ARG, encoding liver arginase, which hydrolyses arginine to urea and ornithine in the last step of the urea cycle. A defect in liver arginase causes accumulation of ammonia in blood; arginine, creatine, guanidinoacetate, and homoarginine in plasma; urea nitrogen in serum; arginine and homoarginine in spinal fluid; and arginiosuccinate orotic acid, and uracil in urine. Symptoms include ataxia, cerebral atrophy, chorea, jaundice, and seizures.

SMP0000003

Pw000184 View Pathway
Disease

Argininosuccinic Aciduria

Argininosuccinic Aciduria, (Argininosuccinase Deficiency, Argininosuccinate Lyase Deficiency, ASL Deficiency) is an autosomal recessive disorder caused by a mutation in the ASL gene which codes for argininosuccinate lyase. It results in accumulation of citrulline, arginosuccinic acid, L-arginine, and L-glutamic acid in plasma as well as ammonia in blood. Infants are lethargic and unwilling to eat. They may develop seizures, coma, and failure to thrive as toxic ammonia accumulates.

SMP0000565

Pw000541 View Pathway
Disease

Aromatase Deficiency

Aromatase deficiency is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of mutations in the CYP19A1 gene. The CYP19A1 gene encodes for the enzyme aromatase. Aromatase converts androgens to estrogens which is vital for bone growth and regulation of blood sugar levels. Symptoms of decrease in estrogen and increase androgens such as testosterone can cause impaired female sexual development, unusual bone growth, insulin resistance, and a variety of other symptoms. It presents with virilization of pregnant mothers during the antenatal period, and virilization of female fetuses at birth. Treatments include lifelong hormone therapy. There have been about 20 reported cases of Aromatase Deficiency worldwide.

SMP0000170

Pw000090 View Pathway
Disease

Aromatic L-Aminoacid Decarboxylase Deficiency

Aromatic L-Aminoacid Decarboxylase Deficiency (DOPA decarboxylase; DDC) is an autosomal recessive disease caused by a mutation in the DDC gene which codes for aromatic-L-aminoacid decarboxylase. A deficiency in this enzyme results in accumulation of 3-methoxytyrosine, 5-hydroxy-L-tryptophan, and L-Dopa in plasma, spinal fluid, and urine; 3-methoxytyramine and dopamine in urine. It also results in decreased concentrations of homovanillic acid, S-adenosylmethionine, and 5-hydroxytryptophol in spinal fluid; and epinephrine, norepinephrine in plasma. Symptoms include temperature instability, hypotonia, mental and motor retardation, and cerebral atrophy.

SMP0031692

Pw032590 View Pathway
Disease

BCR-ABL Action in CML Pathogenesis

The BCR-ABL fusion protein is a cytoplasm-targeted constitutively active tyrosine kinase that causes uninhibited cell proliferation via signalling cascades. This fusion protein is the result of a genetic abnormality known as the Philadelphia chromosome in which Abelson Murine Leukemia viral oncogene homolog 1 (ABL1) translocates within the Breakpoint Cluster Region (BCR) gene on chromosome 22. The action of BCR-ABL produces chronic myelogenous leukemia (CML), a cancer characterized by increased and unregulated growth of white blood cells in the bone marrow and the accumulation of these cells in the blood. Physiologically, ABL is a tyrosine kinase involved with cell growth that moves between the nucleus and the cytoplasm. Upon fusion with BCR, the oncoprotein is constitutively activated due to a preference for dimerization or tetramerization promoting subsequent autophosphorylation, and it is retained in the cytoplasm. BCR-ABL activates several oncogenic pathways which promote increased cell proliferation and survival including the MAPK/ERK Pathway, the JAK-STAT Pathway, and the PI3K/Akt pathway. BCR-ABL forms a complex with GRB2, GAB2, and SOS that activates Ras (converted from its inactive GDP-bound state to the active GTP-bound state). Ras signalling triggers the MAPK/ERK pathway which stimulates abnormal cell proliferation through regulation of transcription and translation. The BCR-ABL/GRB2/GAB2/SOS complex also activates STAT5 either through direct phosphorylation or indirectly through JAK2 kinase to promote survival. Additionally, JAK2 kinase activates the MYC transcription factor for growth-related genes. The PI3K/Akt pathway can be activated either via the BCR-ABL/GRB2/GAB2/SOS complex or the BCR-ABL/CRK/CRKL/CBL/PI3K complex. Akt functions in: (1) increasing cell proliferation by promoting the degradation of p27 (CDKN1B) through the upregulation of SKP2; (2) enhancing protein translation (and subsequently increasing cell proliferation) by activating mTOR kinase; (3) and preventing apoptosis to ensure survival by inhibiting both FOXO transcription factors and the protein Bcl2-associated agonist of cell death (BAD) as well as activating MDM2 which inhibits the tumour suppressor p53.

SMP0000173

Pw000060 View Pathway
Disease

beta-Ketothiolase Deficiency

beta-Ketothiolase Deficiency (2-Methyl-3-Hydroxybutyric Acidemia; Mitochondrial Acetoacetyl-CoA Thiolase Deficiency; MAT Deficiency; T2 Deficiency; 3-KTD Deficiency; 3-Ketothiolase Deficiency) is an autosomal recessive disease caused by a mutation in the HADHB gene which codes for beta-ketathiolase. A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; and 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, 3-hydroxybutyric acid, tiglylglycine, and ketone bodies in urine. Symptoms include ketosis, seizures, organic acids in urine, and hyperammonemia. Treatment includes a low protein diet and L-carnitine.h3. h2.

SMP0000499

Pw000475 View Pathway
Disease

beta-Mercaptolactate-Cysteine Disulfiduria

Metcaptolactate-cysteine disulfiduria (MCDU) is an autosomal disorder that leads to the loss of function of the enzyme mercaptopyruvate sulfurtransferase. The condition is characterized by the urinary excretion of large amounts of a sulfur-containing amino acid, which is beta-mercaptolactate-cysteine disulfide. Patients exhibit a low IQ, grand mal seizures, flattened nasal bridge, and an excessively arched palate.

SMP0000172

Pw000187 View Pathway
Disease

beta-Ureidopropionase Deficiency

Beta-ureidopropionase deficiency (Beta Alanine-Synthase Deficiency, UPB1, BUP1) is an autosomal recessive disease caused by mutations in the UPB1 gene which codes for beta-ureidopropionase. A deficiency in this enzyme results in accumulation of N-carbamyl-beta-amino acids. Symptoms include hypotonia, dystonic movements, scoliosis, microcephaly, and severe developmental delay.
Showing 31 - 40 of 20248 pathways