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	congenital adrenal hyperplasia

Disease ID	250
Disease	congenital adrenal hyperplasia
Definition	A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
Synonym	adrenal congenital hyperplasia adrenal hyperplasia adrenal hyperplasia congen adrenal hyperplasia, congenital adrenal hyperplasia, congenital [disease/finding] adrenal hyperplasias, congenital adrenogenital disorder adrenogenital syndrome cah - congenital adrenal hyperplasia congen adrenal hyperplasia congenital adrenal gland hyperplasia congenital adrenal hyperplasia (disorder) congenital adrenal hyperplasia, nos congenital adrenal hyperplasias congenital adrenogenital syndrome hyperplasia adrenal congenital hyperplasia congen adrenal hyperplasia congenital adrenal hyperplasia, congenital adrenal hyperplasias, congenital adrenal
Orphanet	ORPHANET:181412 ORPHANET:418
DOID	DOID:12255 DOID:4967
UMLS	C0001627
MeSH	D000312 D047808
SNOMED-CT	SNOMEDCT_US_2016_09_01:237751000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:59) C0010481 \| cushing's syndrome \| 8 C0020538 \| hypertension \| 6 C0020428 \| aldosteronism \| 4 C0235461 \| androgen excess \| 3 C0010481 \| cushing syndrome \| 3 C0001623 \| adrenal insufficiency \| 3 C0020428 \| hyperaldosteronism \| 3 C1384514 \| primary aldosteronism \| 3 C1565489 \| renal insufficiency \| 3 C1384514 \| primary hyperaldosteronism \| 2 C0221002 \| primary hyperparathyroidism \| 2 C0014130 \| endocrine disease \| 2 C0001430 \| adenoma \| 2 C0014130 \| endocrine diseases \| 2 C0001622 \| hypercortisolism \| 2 C0002453 \| amenorrhea \| 2 C0020502 \| hyperparathyroidism \| 2 C0023601 \| leydig cell tumor \| 2 C0206667 \| adrenal adenoma \| 1 C0520679 \| obstructive sleep apnea \| 1 C0025267 \| multiple endocrine neoplasia type 1 \| 1 C0020595 \| aldosterone deficiency \| 1 C0004509 \| azoospermia \| 1 C0206667 \| adrenocortical adenoma \| 1 C0028754 \| obesity \| 1 C0007134 \| renal carcinoma \| 1 C0021359 \| infertile \| 1 C0021359 \| infertility \| 1 C0020514 \| hyperprolactinaemia \| 1 C0155616 \| secondary hypertension \| 1 C0020538 \| high blood pressure \| 1 C0334684 \| renal adenoma \| 1 C0022658 \| renal disease \| 1 C0008370 \| cholestasis \| 1 C0162566 \| porphyria cutanea tarda \| 1 C0013720 \| ehlers danlos syndrome \| 1 C0032708 \| porphyria \| 1 C0007222 \| cardiovascular disease \| 1 C0041408 \| turner's syndrome \| 1 C0159069 \| impaired glucose tolerance \| 1 C0034013 \| precocious puberty \| 1 C0022658 \| renal diseases \| 1 C1370740 \| adrenal carcinoma \| 1 C0027662 \| multiple endocrine neoplasia \| 1 C0029927 \| ovarian cyst \| 1 C0037315 \| sleep apnea \| 1 C0206686 \| adrenocortical carcinoma \| 1 C0035078 \| renal failure \| 1 C0003125 \| anorexia nervosa \| 1 C0042373 \| vascular disease \| 1 C0039730 \| thalassemia \| 1 C0001623 \| hypoadrenalism \| 1 C0033805 \| pseudohypoaldosteronism \| 1 C0242292 \| mccune-albright syndrome \| 1 C0004153 \| atherosclerosis \| 1 C0022354 \| cholestatic jaundice \| 1 C0001621 \| adrenal disease \| 1 C0041408 \| turner syndrome \| 1 C0242292 \| albright syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:11) 5573 \| PRKAR1A \| CTD_human 1586 \| CYP17A1 \| CTD_human;UNIPROT 5447 \| POR \| CTD_human 8622 \| PDE8B \| CTD_human 1584 \| CYP11B1 \| UNIPROT 1589 \| CYP21A2 \| CTD_human;UNIPROT 3284 \| HSD3B2 \| CTD_human;UNIPROT 554 \| AVPR2 \| CTD_human 3360 \| HTR4 \| CTD_human 1583 \| CYP11A1 \| UNIPROT 552 \| AVPR1A \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 1590 \| CYP21A1P \| CIPHER 1584 \| CYP11B1 \| CIPHER 1589 \| CYP21A2 \| CIPHER;CTD_human 3106 \| HLA-B \| CIPHER 3117 \| HLA-DQA1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 2908 \| NR3C1 \| CIPHER 5447 \| POR \| CIPHER;CTD_human 1586 \| CYP17A1 \| CTD_human 8622 \| PDE8B \| CTD_human 554 \| AVPR2 \| CTD_human 3360 \| HTR4 \| CTD_human 5573 \| PRKAR1A \| CTD_human 552 \| AVPR1A \| CTD_human 3284 \| HSD3B2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:65) 1646 \| AKR1C2 \| 1.334 \| DISEASES 280 \| AMY2B \| 1.419 \| DISEASES 164 \| AP1G1 \| 1.729 \| DISEASES 367 \| AR \| 1.718 \| DISEASES 632 \| BGLAP \| 2.12 \| DISEASES 720 \| C4A \| 4.202 \| DISEASES 721 \| C4B \| 4.73 \| DISEASES 1028 \| CDKN1C \| 1.373 \| DISEASES 1107 \| CHD3 \| 1.604 \| DISEASES 1528 \| CYB5A \| 2.457 \| DISEASES 1585 \| CYP11B2 \| 4.566 \| DISEASES 1586 \| CYP17A1 \| 5.683 \| DISEASES 1589 \| CYP21A2 \| 8.572 \| DISEASES 1555 \| CYP2B6 \| 3.331 \| DISEASES 1622 \| DBI \| 2.364 \| DISEASES 2152 \| F3 \| 1.178 \| DISEASES 2232 \| FDXR \| 3.377 \| DISEASES 2263 \| FGFR2 \| 1.838 \| DISEASES 2289 \| FKBP5 \| 1.342 \| DISEASES 668 \| FOXL2 \| 1.061 \| DISEASES 122786 \| FRMD6 \| 1.12 \| DISEASES 2739 \| GLO1 \| 2.392 \| DISEASES 2886 \| GRB7 \| 2.949 \| DISEASES 9569 \| GTF2IRD1 \| 1.405 \| DISEASES 3105 \| HLA-A \| 2.816 \| DISEASES 3106 \| HLA-B \| 4.561 \| DISEASES 3293 \| HSD17B3 \| 2.649 \| DISEASES 3283 \| HSD3B1 \| 5.382 \| DISEASES 3284 \| HSD3B2 \| 5.326 \| DISEASES 7866 \| IFRD2 \| 2.4 \| DISEASES 387755 \| INSC \| 1.02 \| DISEASES 3638 \| INSIG1 \| 1.688 \| DISEASES 3640 \| INSL3 \| 2.124 \| DISEASES 3652 \| IPP \| 1.6 \| DISEASES 9851 \| KIAA0753 \| 1.009 \| DISEASES 987 \| LRBA \| 2.097 \| DISEASES 4158 \| MC2R \| 4.089 \| DISEASES 4191 \| MDH2 \| 1.485 \| DISEASES 4439 \| MSH5 \| 1.217 \| DISEASES 4700 \| NDUFA6 \| 4.28 \| DISEASES 190 \| NR0B1 \| 3.3 \| DISEASES 4306 \| NR3C2 \| 1.838 \| DISEASES 3164 \| NR4A1 \| 1.548 \| DISEASES 2516 \| NR5A1 \| 3.399 \| DISEASES 170685 \| NUDT10 \| 1.034 \| DISEASES 5447 \| POR \| 1.92 \| DISEASES 5514 \| PPP1R10 \| 1.48 \| DISEASES 151987 \| PPP4R2 \| 2.842 \| DISEASES 284654 \| RSPO1 \| 1.829 \| DISEASES 54809 \| SAMD9 \| 1.613 \| DISEASES 692148 \| SCARNA10 \| 3.234 \| DISEASES 677767 \| SCARNA7 \| 2.176 \| DISEASES 6337 \| SCNN1A \| 1.075 \| DISEASES 6342 \| SCP2 \| 1.955 \| DISEASES 8879 \| SGPL1 \| 1.25 \| DISEASES 6462 \| SHBG \| 3.078 \| DISEASES 692233 \| SNORD117 \| 2.223 \| DISEASES 6668 \| SP2 \| 1.006 \| DISEASES 6736 \| SRY \| 3.158 \| DISEASES 10948 \| STARD3 \| 1.431 \| DISEASES 6789 \| STK4 \| 1.386 \| DISEASES 79718 \| TBL1XR1 \| 1.931 \| DISEASES 7148 \| TNXB \| 5.012 \| DISEASES 7258 \| TSPY1 \| 1.723 \| DISEASES 100289087 \| TSPY10 \| 1.759 \| DISEASES
Locus	(Waiting for update.)

Disease ID	250
Disease	congenital adrenal hyperplasia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0000028 \| Cryptorchidism HP:0000047 \| Hypospadias HP:0010458 \| Female pseudohermaphroditism HP:0005616 \| Accelerated skeletal maturation HP:0001531 \| Failure to thrive in infancy HP:0000822 \| Hypertension HP:0001578 \| Hypercortisolism HP:0001939 \| Abnormality of metabolism/homeostasis HP:0008872 \| Feeding difficulties in infancy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:51) HP:0000822 \| Hypertension \| 6 HP:0001578 \| Hypercortisolism \| 5 HP:0000062 \| Ambiguous external genitalia \| 5 HP:0000083 \| Renal insufficiency \| 5 HP:0002664 \| Neoplasia \| 5 HP:0000846 \| Hypoadrenalism \| 5 HP:0001007 \| Hirsutism \| 4 HP:0000859 \| Mineralocorticoid excess \| 4 HP:0011736 \| Primary hyperaldosteronism \| 3 HP:0000843 \| Hyperparathyroidism \| 2 HP:0010788 \| Testicular neoplasm \| 2 HP:0000127 \| Salt wasting \| 2 HP:0008665 \| Clitoromegaly \| 2 HP:0008200 \| Primary hyperparathyroidism \| 2 HP:0000141 \| Abnormal absence of menstruation \| 2 HP:0000789 \| Infertility \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0012412 \| Premature adrenarche \| 1 HP:0004349 \| Reduced bone mineral density \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0000121 \| Nephrocalcinosis \| 1 HP:0008207 \| Addison's disease \| 1 HP:0000870 \| Hyperprolactinemia \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0000047 \| Hypospadias \| 1 HP:0100568 \| Endocrine neoplasia \| 1 HP:0000858 \| Menstrual irregularity \| 1 HP:0030731 \| Carcinoma \| 1 HP:0012408 \| Medullary nephrocalcinosis \| 1 HP:0012215 \| Testicular microlithiasis \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0008242 \| Pseudohypoaldosteronism \| 1 HP:0000138 \| Ovarian cyst \| 1 HP:0100033 \| Tic disorder \| 1 HP:0100754 \| Mania \| 1 HP:0000027 \| Azoospermia \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0001396 \| Cholestasis \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0012853 \| Scrotal hypospadias \| 1 HP:0006744 \| Adrenal carcinoma \| 1 HP:0000840 \| Adrenogenital syndrome \| 1 HP:0002039 \| Anorexia \| 1 HP:0000826 \| Precocious puberty \| 1 HP:0001513 \| Obesity \| 1 HP:0000786 \| Primary amenorrhea \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0000833 \| Glucose intolerance \| 1 HP:0000808 \| Penoscrotal hypospadias \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0008256 \| Adrenocortical adenomas \| 1

Disease ID	250
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:20) C0852654 \| 21-hydroxylase deficiency \| 13 C0001630 \| adrenal rest tumors \| 8 C0010481 \| cushing's syndrome \| 8 C0020538 \| hypertension \| 6 C1609519 \| adrenal myelolipoma \| 5 C1384514 \| primary aldosteronism \| 4 C0235394 \| wasting \| 4 C0020428 \| hyperaldosteronism \| 4 C0042755 \| virilization \| 3 C0001622 \| hypercortisolism \| 2 C0002453 \| amenorrhea \| 2 C0268287 \| steroid 21-hydroxylase deficiency \| 1 C0039590 \| testicular tumors \| 1 C0003125 \| anorexia nervosa \| 1 C0034013 \| precocious puberty \| 1 C0175696 \| g syndrome \| 1 C0004509 \| azoospermia \| 1 C0206667 \| adrenocortical adenoma \| 1 C0302280 \| adrenogenital syndrome \| 1 C0039590 \| testicular tumor \| 1

Manually Genotype(Total Manually Genotypes:7)
Gene	Mutation	DOI	Article Title
CYP21A2	p.V281L11	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	p.P30L	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	IVS2−13C>G (IVS−2)	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	p.I172N	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	p.Q318X	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	p.R356W	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CYP21A2	8−bp−deletion in exon 3	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:26)
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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0008872	Feeding difficulties in infancy	MP:0011075	abnormal macrophage activation involved in immune response	anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0001531	Failure to thrive in infancy	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0005616	Accelerated skeletal maturation	MP:0003378	early sexual maturation	pubertal changes occur at an earlier than normal age

Mapped by homologous gene(Total Items:9)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001578	Hypercortisolism	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0000047	Hypospadias	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0010458	Female pseudohermaphroditism	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001531	Failure to thrive in infancy	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000028	Cryptorchidism	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0005616	Accelerated skeletal maturation	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0008872	Feeding difficulties in infancy	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000822	Hypertension	MP:0020216	decreased circulating complement protein level	less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes

Disease ID	250
Disease	congenital adrenal hyperplasia
Case	(Waiting for update.)