| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 3 (4.0%) |
23332201 |
Genotype and phenotype heterogeneity in perrault syndrome. Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y. J Pediatr Adolesc Gynecol. 2013;26(1):e25-7. |
| Gonadal dysgenesis | ||
| HARS2 HSD17B4 PSMC3IP | ||
| c|SUB|A|1675|G;RS#:11205 c|SUB|G|317|A;RS#:25640 p|SUB|I|559|V;RS#:11205 p|SUB|R|106|H;RS#:25640 | ||
| 17-Hydroxysteroid Dehydrogenases Amino Acyl-tRNA Synthetases Females Genetic Heterogeneity Genotype Gonadal Dysgenesis Gonadal Dysgenesis, 46,XX Homo sapiens Hydro-Lyases Mutation Nuclear Proteins Peroxisomal Multifunctional Protein-2 Phenotype Trans-Activators | ||
| 3 (4.0%) |
23162364 (3493840) |
A rare cause for primary amenorrhoea. Ameen KH, Pinninti R. J Hum Reprod Sci. 2012;5(2):218-20. |
| Gonadal dysgenesis | ||
| 3 (4.0%) |
23087880 (3475920) |
A rare cause for primary amenorrhea: Sporadic perrault syndrome. Ameen KH, Pinninti R. Indian J Endocrinol Metab. 2012;16(5):843-5. |
| Gonadal dysgenesis | ||
| 3 (4.0%) |
19033811 |
Perrault Syndrome with progressive nervous system involvement. Kobe C, Kracht LW, Timmermann L, Bachmann J, Schmidt MC. Clin Nucl Med. 2008;33(12):922-4. |
| Gonadal dysgenesis | ||
| Adult Females Homo sapiens Magnetic Resonance Imaging Positron-Emission Tomography Syndrome | ||
| 3 (4.0%) |
18241061 |
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Marlin S, Lacombe D, Jonard L, Leboulanger N, Bonneau D, Goizet C, de Villemeur TB, Cabrol S, Houang M, Moatti L, Feldmann D, Denoyelle F. Am J Med Genet A. 2008;146A(5):661-4. |
| Sensorineural hearing impairment | ||
| FOXL2 GJB2 POLG | ||
| Adult Connexins Females Genetic Predisposition to Disease Gonadal Dysgenesis Homo sapiens Ovary Syndrome | ||
| 3 (4.0%) |
15216544 |
Perrault syndrome: evidence for progressive nervous system involvement. Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Am J Med Genet A. 2004;128A(3):246-9. |
| Gonadal dysgenesis | ||
| rs387906825 | ||
| Adult Deafness Females Gonadal Dysgenesis Hereditary Motor and Sensory Neuropathies Homo sapiens Peripheral Nervous System Syndrome | ||
| 3 (4.0%) |
11170090 |
New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness. Amor DJ, Delatycki MB, Gardner RJ, Storey E. Am J Med Genet. 2001;99(1):29-33. |
| Hypogonadism | ||
| LHCGR | ||
| Adult Cerebellar Ataxia Cerebellum Females Gonadotropins Homo sapiens Hypogonadism Male Middle Aged | ||
| 3 (4.0%) |
8923934 |
Neurologic anomalies of Perrault syndrome. Gottschalk ME, Coker SB, Fox LA. Am J Med Genet. 1996;65(4):274-6. |
| Ataxia | ||
| Females Homo sapiens Male Neurologic Examination Syndrome | ||
| 3 (4.0%) |
3067578 |
The Perrault syndrome: clinical report and review. Nishi Y, Hamamoto K, Kajiyama M, Kawamura I. Am J Med Genet. 1988;31(3):623-9. |
| Nystagmus | ||
| Adult Child, Preschool Deafness Females Genes, Recessive Gonadal Dysgenesis Homo sapiens Male Ovary Syndrome | ||
| 3 (4.0%) |
517579 |
The Perrault syndrome: autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Pallister PD, Opitz JM. Am J Med Genet. 1979;4(3):239-46. |
| Right bundle branch block | ||
| rs397515410 | ||
| Adult Amenorrhea Child Deafness Females Genes, Recessive Gonadal Dysgenesis Homo sapiens Homozygote Male Ovary Syndrome |
Total: 0
| HPO ID | Term | Frequency |
|---|
Total: 11
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001251 | Ataxia | 6 |
| HP:0000133 | Gonadal dysgenesis | 4 |
| HP:0000786 | Primary amenorrhea | 3 |
| HP:0000407 | Sensorineural hearing impairment | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000815 | Hypergonadotropic hypogonadism | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0002300 | Mutism | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0009830 | Peripheral neuropathy | 1 |
Total: 6
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|---|---|
| ERAL1 | Era like 12S mitochondrial rRNA chaperone 1 | 26284 |
| HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | 3295 |
| TWNK | twinkle mtDNA helicase | 56652 |
| HARS2 | histidyl-tRNA synthetase 2, mitochondrial | 23438 |
| CLPP | caseinolytic mitochondrial matrix peptidase proteolytic subunit | 8192 |
| LARS2 | leucyl-tRNA synthetase 2, mitochondrial | 23395 |