Description:
ADRENAL HYPOPLASIA, CONGENITAL; AHC
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Blood
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Not Reported
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NR0B1 |
| Chromosomal Location |
Xp21.2 |
| Allelic Variant 1 |
; |
| Identified Mutation |
1273(6248)A>G; R425G |
| Remarks |
Clinically affected with infantile type; missense mutation in the DAX1 gene: A>G at 1273(6248) R425G; positive family history: affected brother is GM24520 and carrier sister is GM24521. |
| Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER., DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet.62(4):855-64 1998 |
| PubMed ID: 9529340 |
| Gene Cards |
DAX1 |
| NCBI GTR |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| OMIM |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| Omim Description |
ADDISON DISEASE, X-LINKED; AHX |
| |
ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM |
| |
ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| |
AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED |
| |
AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED |
| |
DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED |
| |
DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED |
|