| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (4.0%) |
29176027 |
Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment. Yang J, Lv Y, Zhou Y, Xiao X. J Pediatr Endocrinol Metab. 2017;30(12):1299-1304. |
| Cryptorchidism | ||
| NR0B1 | ||
| c|INS|383_384|A | ||
| Child China DAX-1 Orphan Nuclear Receptor DNA Mutational Analysis Homo sapiens Hypogonadism Male | ||
| 1 (4.0%) |
23272655 (3537693) |
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report. Metwalley KA, Farghaly HS. J Med Case Rep. 2012;6:428. |
| Chordee | ||
| MAMLD1 NR0B1 | ||
| 1 (4.0%) |
21227944 (3037794) |
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. Frapsauce C, Ravel C, Legendre M, Sibony M, Mandelbaum J, Donadille B, Achermann JC, Siffroi JP, Christin-Maitre S. Hum Reprod. 2011;26(3):724-8. |
| Azoospermia | ||
| NR0B1 | ||
| c|SUB|C|1210|T p|SUB|Q|404|X | ||
| Adult DAX-1 Orphan Nuclear Receptor Genetic Diseases, X-Linked Homo sapiens Hypogonadism Male Reproductive Techniques, Assisted Spermatogenesis | ||
| 1 (4.0%) |
20718192 |
Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia. Engiz O, Ozon A, Riepe F, Alikasifoglu A, Gonc N, Kandemir N. Turk J Pediatr. 2010;52(3):312-6. |
| Hypogonadism | ||
| GH1 IGF1 NR0B1 | ||
| Adrenal Gland Diseases Adrenal Glands Brain Injuries Comorbidity Genetic Diseases, X-Linked Homo sapiens Human Growth Hormone Male | ||
| 1 (4.0%) |
16061826 |
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. De Menis E, Roncaroli F, Calvari V, Chiarini V, Pauletto P, Camerino G, Cremonini N. Eur J Endocrinol. 2005;153(2):211-5. |
| Hypogonadism | ||
| NR0B1 POMC | ||
| Adenoma Adult Chromosomes, Human, X DAX-1 Orphan Nuclear Receptor DNA-Binding Proteins Females Homo sapiens Magnetic Resonance Imaging Male Pituitary Neoplasms Repressor Proteins Retinoic Acid Receptor | ||
| 1 (4.0%) |
15800903 |
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. Franzese A, Brunetti-Pierri N, Spagnuolo MI, Spadaro R, Giugliano M, Mukai T, Valerio G. Am J Med Genet A. 2005;135(1):72-4. |
| Tall stature | ||
| NR0B1 | ||
| p|SUB|V|287|G | ||
| Adrenal Gland Diseases Adult DAX-1 Orphan Nuclear Receptor DNA DNA Mutational Analysis DNA-Binding Proteins Genetic Diseases, X-Linked Growth Disorders Homo sapiens Kidney Male Missense Mutation Repressor Proteins Retinoic Acid Receptor | ||
| 1 (4.0%) |
11014466 |
Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy. Loke KY, Larry KS, Lee YS, Peter M, Drop SL. Eur J Pediatr. 2000;159(9):671-5. |
| Hypogonadism | ||
| NR0B1 | ||
| p|SUB|W|171|X;RS#:104894891|104894893 | ||
| Age Factors Child Child, Preschool Homo sapiens Male X Chromosome | ||
| 1 (4.0%) |
8684342 |
[Congenital adrenal hypoplasia and hearing loss. A case report]. Liotta A, Maggio C, Casimiro L, Giuffre M, La Grutta S. Minerva Pediatr. 1995;47(11):471-6. |
| Congenital adrenal hypoplasia | ||
| Adrenal Gland Diseases Follow-Up Studies Homo sapiens Infant, Newborn Male Mineralocorticoids Time Factors | ||
| 1 (4.0%) |
8636263 |
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H. J Clin Endocrinol Metab. 1996;81(2):530-5. |
| Hypogonadism | ||
| NR0B1 | ||
| rs104894891 rs104894893 | ||
| Base Sequence DAX-1 Orphan Nuclear Receptor DNA-Binding Proteins Exons Homo sapiens Hypogonadism Japan Male Molecular Sequence Data Mutation Polymerase Chain Reaction Repressor Proteins Retinoic Acid Receptor Sequence Analysis, DNA X Chromosome | ||
| 1 (4.0%) |
7955386 |
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S. Clin Chem. 1994;40(11 Pt 1):2099-103. |
| Adrenal insufficiency | ||
| Chromosome Mapping Gene Deletion Glycerol Kinase Homo sapiens Infant, Newborn Male Muscular Dystrophy Polymerase Chain Reaction X Chromosome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000135 | Hypogonadism | 3 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000098 | Tall stature | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000835 | Adrenal hypoplasia | 1 |
| HP:0000846 | Adrenal insufficiency | 1 |
| HP:0012245 | Sex reversal | 1 |