| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (35.4%) |
17868898 |
Perrault syndrome with Marfanoid habitus in two siblings. Jacob JJ, Paul TV, Mathews SS, Thomas N. J Pediatr Adolesc Gynecol. 2007;20(5):305-8. |
| Gonadal dysgenesis Slender finger | ||
| Adult Arachnodactyly Females Genes, Recessive Gonadal Dysgenesis, 46,XX Homo sapiens Marfan Syndrome Sibling Syndrome | ||
| 2 (27.3%) |
27087618 (5198008) |
A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family. Dursun F, Mohamoud HS, Karim N, Naeem M, Jelani M, Krmzbekmez H. J Clin Res Pediatr Endocrinol. 2016;8(4):472-477. |
| Gonadal dysgenesis Limb muscle weakness | ||
| CLPP | ||
| c|SUB|C|624|G p|SUB|I|208|M rs1555719766 | ||
| Chromosome Mapping Chromosomes, Human, Pair 19 Females Genetic Predisposition to Disease Genome, Human Genotype Gonadal Dysgenesis, 46,XX Homo sapiens Male Missense Mutation Sequence Analysis, DNA Single Nucleotide Polymorphism Young Adult | ||
| 3 (4.0%) |
31275682 |
Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea. Roberts LM, Carnivale B. Case Rep Obstet Gynecol. 2019;2019:9865281. |
| Gonadal dysgenesis | ||
| 3 (4.0%) |
29205794 |
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Kosaki R, Horikawa R, Fujii E, Kosaki K. Am J Med Genet A. 2018;176(2):404-408. |
| Irritability | ||
| CHMP1B CLPP HARS2 HSD17B4 LARS2 | ||
| p|SUB|E|294|K;RS#:749627411 p|SUB|T|519|M;RS#:141097216 | ||
| Alleles Amenorrhea Amino Acyl-tRNA Synthetases Child Exome Females Gonadal Dysgenesis, 46,XX Homo sapiens Mutation Sibling Uterus | ||
| 3 (4.0%) |
28832386 |
Marfanoid habitus is a nonspecific feature of Perrault syndrome. Zerkaoui M, Demain LAM, Cherkaoui Jaouad I, Ratbi I, Amjoud K, Urquhart JE, O'Sullivan J, Newman WG, Sefiani A. Clin Dysmorphol. 2017;26(4):200-204. |
| Primary amenorrhea | ||
| c|SUB|C|1565|A;RS#:199589947 p|SUB|T|522|N;RS#:199589947 | ||
| Amino Acid Sequence Amino Acyl-tRNA Synthetases Base Sequence Females Genotype Gonadal Dysgenesis, 46,XX Homo sapiens Male Marfan Syndrome Phenotype Reproducibility of Results Whole Exome Sequencing Young Adult | ||
| 3 (4.0%) |
28830375 (5568266) |
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome. Chen K, Yang K, Luo SS, Chen C, Wang Y, Wang YX, Li DK, Yang YJ, Tang YL, Liu FT, Wang J, Wu JJ, Sun YM. BMC Med Genet. 2017;18(1):91. |
| Ataxia | ||
| c|SUB|G|298|T p|SUB|A|100|S rs1554062352 | ||
| Adult Asians Females Gene Expression Regulation Gonadal Dysgenesis, 46,XX Heterozygote Homo sapiens Homozygote Magnetic Resonance Imaging Missense Mutation Peroxisomal Multifunctional Protein-2 Sequence Analysis, DNA | ||
| 3 (4.0%) |
25954653 |
Perrault syndrome - a rare case report. Sampathkumar G, Veerasigamani N. J Clin Diagn Res. 2015;9(3):OD01-2. |
| Gonadal dysgenesis | ||
| 3 (4.0%) |
25741941 |
Perrault syndrome with growth hormone deficiency: a rare autosomal recessive disorder. Agrawala RK, Choudhury AK, Mohanty BK, Baliarsinha AK. J Pediatr Endocrinol Metab. 2015;28(9-10):1005-7. |
| Gonadal dysgenesis | ||
| GH1 | ||
| Females Gonadal Dysgenesis, 46,XX Homo sapiens Human Growth Hormone | ||
| 3 (4.0%) |
24602372 (4015298) |
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency. Lieber DS, Hershman SG, Slate NG, Calvo SE, Sims KB, Schmahmann JD, Mootha VK. BMC Med Genet. 2014;15:30. |
| Azoospermia | ||
| HSD17B4 | ||
| p|SUB|A|196|V;RS#:550705310 | ||
| Adult Ataxia Azoospermia Base Sequence DNA Copy Number Variations Gene Dosage Heterozygote High-Throughput Nucleotide Sequencing Homo sapiens Male Mitochondrial Diseases Molecular Diagnostic Techniques Molecular Sequence Data Peroxisomal Multifunctional Protein-2 Phenotype Sequence Analysis, DNA Sequence Deletion | ||
| 3 (4.0%) |
23748049 |
Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome. Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczynski MR. Mitochondrion. 2013;13(6):831-4. |
| Optic neuropathy | ||
| HARS2 HSD17B4 | ||
| g|SUB|G|11778|A | ||
| Adult DNA, Mitochondrial Females Gonadal Dysgenesis, 46,XX Homo sapiens Male Mutation Optic Atrophy, Hereditary, Leber Young Adult |
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 |