PedAM
Pediatric Disease Annotations & Medicines
| congenital adrenal hyperplasia | ||||
| Disease ID | 206 |
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| Disease | congenital adrenal hyperplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:39) C2712335 | dehydration C2712323 | hypoglycaemia C2712322 | tachycardia C2700478 | meningioma C2219717 | amenorrhea C2062513 | renal hemangioma C2048468 | male infertility C1963138 | hypertension C1955743 | mineralocorticoid deficiency C1801950 | g syndrome C1609519 | adrenal myelolipoma C1563743 | adiposity C1522133 | hypercholesterolemia C1321542 | azoospermia C0877018 | pituitary enlargement C0852654 | 21-hydroxylase deficiency C0836924 | thrombocytosis C0334412 | ovarian steroid cell tumor C0302280 | adrenogenital syndrome C0271738 | adrenal suppression C0268287 | steroid 21-hydroxylase deficiency C0242339 | dyslipidemia C0238394 | female pseudohermaphroditism C0235394 | wasting C0206667 | adrenocortical adenoma C0206660 | germinoma C0175694 | smith-lemli-opitz syndrome C0042755 | virilization C0042755 | virilism C0039590 | testicular tumors C0039590 | testicular tumor C0034013 | precocious puberty C0033845 | pseudotumor cerebri C0032460 | polycystic ovaries C0025362 | mental retardation C0024588 | malignant hypertension C0003125 | anorexia nervosa C0001630 | adrenal rest tumors C0001618 | adrenocortical tumor |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:15) C0852654 | 21-hydroxylase deficiency | 14 C0001630 | adrenal rest tumors | 8 C0235394 | wasting | 4 C1609519 | adrenal myelolipoma | 4 C0042755 | virilization | 3 C0020538 | hypertension | 2 C0002453 | amenorrhea | 2 C0268287 | steroid 21-hydroxylase deficiency | 1 C0003125 | anorexia nervosa | 1 C0004509 | azoospermia | 1 C0175696 | g syndrome | 1 C0039590 | testicular tumor | 1 C0206667 | adrenocortical adenoma | 1 C0034013 | precocious puberty | 1 C0302280 | adrenogenital syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:26) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042854 | 10215405 | 6770 | STAR | umls:C0001627 | BeFree | A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online. | 0.007600372 | 1998 | STAR | 8 | 38146005 | G | T |
| rs1042854 | 10215405 | 6770 | STAR | umls:C1621895 | BeFree | A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online. | 0.007600372 | 1998 | STAR | 8 | 38146005 | G | T |
| rs104894070 | 16670167 | 1584 | CYP11B1 | umls:C0001627 | BeFree | Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. | 0.020864805 | 2006 | CYP11B1;GML | 8 | 142879146 | G | A |
| rs104894071 | 16670167 | 1584 | CYP11B1 | umls:C0001627 | BeFree | Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. | 0.020864805 | 2006 | CYP11B1;GML | 8 | 142875730 | G | T |
| rs104894085 | 21846663 | 6770 | STAR | umls:C1621895 | BeFree | High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. | 0.007600372 | 2011 | STAR | 8 | 38144359 | G | A |
| rs104894085 | 21846663 | 6770 | STAR | umls:C0001627 | BeFree | High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. | 0.007600372 | 2011 | STAR | 8 | 38144359 | G | A |
| rs121912976 | 23878291 | 5447 | POR | umls:C0001627 | BeFree | Congenital adrenal hyperplasia was ruled out and molecular analysis of POR gene showed the missense mutation p.Gly539Arg in compound heterozygosity located at splice acceptor site of intron 2 and the coding variant p.Gly80Arg. | 0.12617715 | 2014 | POR | 7 | 75985795 | G | A,C |
| rs12530380 | 21117955 | 1589 | CYP21A2 | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.293756693 | 2011 | CYP21A2 | 6 | 32039810 | T | A |
| rs12530380 | 21117955 | 3371 | TNC | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.000542884 | 2011 | CYP21A2 | 6 | 32039810 | T | A |
| rs200005406 | 9497336 | 1589 | CYP21A2 | umls:C0001627 | BeFree | Three mutants (deletion of E196, G291S, and R483P) of steroid 21-hydroxylase (P450c21) from patients with inherited congenital adrenal hyperplasia had reduced activity toward progesterone and 17-hydroxyprogesterone after transient expression in cultured mammalian cells. | 0.293756693 | 1998 | CYP21A2;TNXB | 6 | 32041097 | G | A,C |
| rs200737258 | 12050225 | 367 | AR | umls:C0001627 | BeFree | An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. | 0.00617715 | 2002 | AR | X | 67711476 | G | A |
| rs200737258 | 12050225 | 1589 | CYP21A2 | umls:C0001627 | BeFree | An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. | 0.293756693 | 2002 | AR | X | 67711476 | G | A |
| rs201552310 | 9497336 | 1589 | CYP21A2 | umls:C0001627 | BeFree | Three mutants (deletion of E196, G291S, and R483P) of steroid 21-hydroxylase (P450c21) from patients with inherited congenital adrenal hyperplasia had reduced activity toward progesterone and 17-hydroxyprogesterone after transient expression in cultured mammalian cells. | 0.293756693 | 1998 | CYP21A2 | 6 | 32040140 | G | A,C |
| rs6471 | 18028896 | 1589 | CYP21A2 | umls:C0001627 | BeFree | First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy. | 0.293756693 | 2007 | CYP21A2 | 6 | 32040110 | G | A,C,T |
| rs6471 | 21117955 | 3371 | TNC | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.000542884 | 2011 | CYP21A2 | 6 | 32040110 | G | A,C,T |
| rs6471 | 21117955 | 1589 | CYP21A2 | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.293756693 | 2011 | CYP21A2 | 6 | 32040110 | G | A,C,T |
| rs6475 | 21117955 | 3371 | TNC | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.000542884 | 2011 | CYP21A2 | 6 | 32039426 | T | A |
| rs6475 | 21117955 | 1589 | CYP21A2 | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.293756693 | 2011 | CYP21A2 | 6 | 32039426 | T | A |
| rs6475 | 1937474 | 1589 | CYP21A2 | umls:C0001627 | BeFree | Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia. | 0.293756693 | 1991 | CYP21A2 | 6 | 32039426 | T | A |
| rs6475 | 14664429 | 1589 | CYP21A2 | umls:C0001627 | BeFree | We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal hyperplasia due to a rare combination of P30L/I172N mutations in the CYP21 (21-hydroxylase) gene. | 0.293756693 | 2003 | CYP21A2 | 6 | 32039426 | T | A |
| rs7755898 | 19773403 | 1589 | CYP21A2 | umls:C0001627 | BeFree | Discrimination between a normal (Q318X mutation on one of the duplicated CYP21A2 genes) and a congenital adrenal hyperplasia (CAH, Q318X mutation without duplicated functional gene) allele is of importance, particularly for prenatal diagnosis and the respective genetic counseling. | 0.293756693 | 2009 | CYP21A2 | 6 | 32040421 | C | T |
| rs7755898 | 21117955 | 1589 | CYP21A2 | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.293756693 | 2011 | CYP21A2 | 6 | 32040421 | C | T |
| rs7755898 | 21117955 | 3371 | TNC | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.000542884 | 2011 | CYP21A2 | 6 | 32040421 | C | T |
| rs7769409 | 21117955 | 1589 | CYP21A2 | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.293756693 | 2011 | CYP21A2 | 6 | 32040535 | C | T |
| rs7769409 | 21117955 | 3371 | TNC | umls:C0001627 | BeFree | To determine RCCX alterations, we used the polymerase chain reaction (PCR) product containing the tenascin B (TNXB) and CYP21A2 genes with TaqI digestion and Southern blot analysis with AseI and NdeI endonuclease digestion of genomic DNA from congenital adrenal hyperplasia patients with common mutations resulting from an intergenic conversion of CYP21A1P, such as an I2 splice, I172N, V281L, F306-L307insT, Q318X, and R356W, and dual mutations of I236N/V237E in the CYP21A2 gene. | 0.000542884 | 2011 | CYP21A2 | 6 | 32040535 | C | T |
| rs9378251 | 14664429 | 1589 | CYP21A2 | umls:C0001627 | BeFree | We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal hyperplasia due to a rare combination of P30L/I172N mutations in the CYP21 (21-hydroxylase) gene. | 0.293756693 | 2003 | CYP21A2 | 6 | 32038514 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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