Description:
ADRENAL HYPOPLASIA, CONGENITAL; AHC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17170 [ADRENAL HYPOPLASIA, CONGENITAL; AHC] |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Short stature, poor tooth enamel, and many teeth removed; no other ectodermal signs; heterozygote manifesting adrenal insufficiency with no muscle weakness; 2 affected brothers; see GM09964 Fibro |
| dbSNP |
dbSNP ID: 11384 |
| Gene Cards |
DAX1 |
| NCBI GTR |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| OMIM |
300200 ADRENAL HYPOPLASIA, CONGENITAL; AHC |
| Omim Description |
ADDISON DISEASE, X-LINKED; AHX |
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ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM |
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ADRENAL HYPOPLASIA, CONGENITAL; AHC |
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AHC WITH HHGCYTOMEGALIC ADRENOCORTICAL HYPOPLASIA, INCLUDED |
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AHC WITH ISOLATED GONADOTROPIN DEFICIENCY, INCLUDED |
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DOSAGE SENSITIVE SEX REVERSAL/ADRENAL HYPOPLASIA CONGENITA, X-LINKED1, INCLUDED |
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DSS-AHC CRITICAL REGION ON THE X CHROMOSOME, GENE 1, INCLUDED; DAX1,INCLUDED |
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