| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (23.3%) |
25920937 (6108425) |
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. Am J Med Genet A. 2015;167A(9):2176-81. |
| Cryptorchidism Pectus excavatum | ||
| PIGN | ||
| p|SUB|S|859|T p|SUB|W|136|G rs1167158496 rs1555682938 rs558341655 rs746882521 | ||
| Child, Preschool Exome Homo sapiens Male Missense Mutation Phenotype Phosphotransferases Seizures Syndrome | ||
| 2 (17.5%) |
28273706 |
[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature]. Xu YF, Li N, Li GQ, Wang XM, Zhou YF, Yin L, Wang J. Zhonghua Er Ke Za Zhi. 2017;55(3):215-219. |
| Muscle weakness | ||
| PIGN | ||
| c|SUB|A|2773|T c|SUB|G|963|A;RS#:587777187 p|SUB|K|925|* | ||
| Child, Preschool China Developmental Disabilities Epilepsy High-Throughput Nucleotide Sequencing Homo sapiens Homozygote Intellectual Disability Male Mutation Phosphotransferases Seizures Syndrome | ||
| 3 (4.0%) |
29868109 (5951959) |
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. Yang L, Peng J, Yin XM, Pang N, Chen C, Wu TH, Zou XM, Yin F. Front Genet. 2018;9:153. |
| Seizure | ||
| c|SUB|G|550|A;RS#:774753616 p|SUB|E|184|K;RS#:774753616 | ||
| 3 (4.0%) |
29330547 |
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Reunion Island, in patients with Fryns syndrome. Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gerard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschke P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Eur J Hum Genet. 2018;26(3):340-349. |
| Pulmonary hypoplasia | ||
| PIGN | ||
| rs1555696769 | ||
| Diaphragmatic Hernia Facies Females Founder Effect Gene Deletion Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Loss of Function Mutation Male Phosphotransferases | ||
| 3 (4.0%) |
29096607 (5668960) |
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. BMC Med Genet. 2017;18(1):124. |
| Intellectual disability | ||
| CD59 PIGN TRIO | ||
| c|SUB|G|181|T;RS#:200199765 c|SUB|G|284|A;RS#:374704368 p|SUB|E|61|*;RS#:200199765 p|SUB|R|95|Q;RS#:374704368 rs200199765 rs558341655 | ||
| Child, Preschool DNA Mutational Analysis Developmental Disabilities Epilepsies, Partial Exome Genetic Predisposition to Disease Homo sapiens Male Mutation Phosphotransferases | ||
| 3 (4.0%) |
27916860 (5192484) |
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Skauli N, Wallace S, Chiang SC, Baroy T, Holmgren A, Stray-Pedersen A, Bryceson YT, Stromme P, Frengen E, Misceo D. Genes (Basel). 2016;7(12):. |
| Intellectual disability | ||
| c|SUB|G|1079|T p|SUB|G|360|V rs1277383877 | ||
| 3 (4.0%) |
25943031 |
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Mol Genet Metab. 2015;115(2-3):128-140. |
| Seizure | ||
| rs200790673 rs751861982 | ||
| Acyltransferase Child Developmental Disabilities Fibroblasts Glycosylphosphatidylinositols Heterozygote Homo sapiens Missense Mutation Skin | ||
| 3 (4.0%) |
24906948 |
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N. Neurogenetics. 2014;15(3):193-200. |
| Intellectual disability | ||
| CD59 PIGT | ||
| c|SUB|C|1342|T;RS#:527236031 c|SUB|G|250|T;RS#:756632799 p|SUB|R|488|W;RS#:527236031 rs200790673 rs527236031 rs756632799 | ||
| Acyltransferase Females Glycosylphosphatidylinositols Heterozygote Homo sapiens Mutation Seizures Syndrome | ||
| 3 (4.0%) |
21493957 |
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L. J Med Genet. 2011;48(6):383-9. |
| Seizure | ||
| CD59 PIGN | ||
| c|SUB|G|2126|A;RS#:397514475 p|SUB|R|709|Q;RS#:397514475 rs1167158496 rs1555682938 rs397514475 rs558341655 rs746882521 | ||
| Base Sequence CD59 Antigen Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 18 Exons Females Flow Cytometry Glycosylphosphatidylinositols Homo sapiens Homozygote Infant Israel Loss of Heterozygosity Male Molecular Sequence Data Mutation Oligonucleotide Array Sequence Analysis Phosphotransferases Sequence Alignment Syndrome Transferase |
Total: 86
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0001250 | Seizures | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0006829 | Severe muscular hypotonia | Very frequent (99-80%) |
| HP:0011344 | Severe global developmental delay | Very frequent (99-80%) |
| HP:0000218 | High palate | Frequent (79-30%) |
| HP:0000280 | Coarse facial features | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0001156 | Brachydactyly | Frequent (79-30%) |
| HP:0001182 | Tapered finger | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0001615 | Hoarse cry | Frequent (79-30%) |
| HP:0001655 | Patent foramen ovale | Frequent (79-30%) |
| HP:0001773 | Short foot | Frequent (79-30%) |
| HP:0002020 | Gastroesophageal reflux | Frequent (79-30%) |
| HP:0004488 | Macrocephaly at birth | Frequent (79-30%) |
| HP:0008872 | Feeding difficulties in infancy | Frequent (79-30%) |
| HP:0010291 | Prominent palatine ridges | Frequent (79-30%) |
| HP:0011247 | Prominent superior crus of antihelix | Frequent (79-30%) |
| HP:0012448 | Delayed myelination | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
| HP:0000034 | Hydrocele testis | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000154 | Wide mouth | Occasional (29-5%) |
| HP:0000160 | Narrow mouth | Occasional (29-5%) |
| HP:0000212 | Gingival overgrowth | Occasional (29-5%) |
| HP:0000219 | Thin upper lip vermilion | Occasional (29-5%) |
| HP:0000269 | Prominent occiput | Occasional (29-5%) |
| HP:0000286 | Epicanthus | Occasional (29-5%) |
| HP:0000293 | Full cheeks | Occasional (29-5%) |
| HP:0000308 | Microretrognathia | Occasional (29-5%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000319 | Smooth philtrum | Occasional (29-5%) |
| HP:0000350 | Small forehead | Occasional (29-5%) |
| HP:0000396 | Overfolded helix | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000470 | Short neck | Occasional (29-5%) |
| HP:0000498 | Blepharitis | Occasional (29-5%) |
| HP:0000565 | Esotropia | Occasional (29-5%) |
| HP:0000582 | Upslanted palpebral fissure | Occasional (29-5%) |
| HP:0000646 | Amblyopia | Occasional (29-5%) |
| HP:0000664 | Synophrys | Occasional (29-5%) |
| HP:0000774 | Narrow chest | Occasional (29-5%) |
| HP:0000932 | Abnormality of the posterior cranial fossa | Occasional (29-5%) |
| HP:0001272 | Cerebellar atrophy | Occasional (29-5%) |
| HP:0001347 | Hyperreflexia | Occasional (29-5%) |
| HP:0001631 | Atrial septal defect | Occasional (29-5%) |
| HP:0001643 | Patent ductus arteriosus | Occasional (29-5%) |
| HP:0001667 | Right ventricular hypertrophy | Occasional (29-5%) |
| HP:0001761 | Pes cavus | Occasional (29-5%) |
| HP:0001804 | Hypoplastic fingernail | Occasional (29-5%) |
| HP:0002015 | Dysphagia | Occasional (29-5%) |
| HP:0002023 | Anal atresia | Occasional (29-5%) |
| HP:0002025 | Anal stenosis | Occasional (29-5%) |
| HP:0002079 | Hypoplasia of the corpus callosum | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002100 | Recurrent aspiration pneumonia | Occasional (29-5%) |
| HP:0002119 | Ventriculomegaly | Occasional (29-5%) |
| HP:0002265 | Large fleshy ears | Occasional (29-5%) |
| HP:0002286 | Fair hair | Occasional (29-5%) |
| HP:0002305 | Athetosis | Occasional (29-5%) |
| HP:0002616 | Aortic root aneurysm | Occasional (29-5%) |
| HP:0002951 | Partial absence of cerebellar vermis | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003324 | Generalized muscle weakness | Occasional (29-5%) |
| HP:0004681 | Deep longitudinal plantar crease | Occasional (29-5%) |
| HP:0004742 | Abnormal renal collecting system morphology | Occasional (29-5%) |
| HP:0004969 | Peripheral pulmonary artery stenosis | Occasional (29-5%) |
| HP:0005830 | Flexion contracture of toe | Occasional (29-5%) |
| HP:0006165 | Proportionate shortening of all digits | Occasional (29-5%) |
| HP:0006254 | Elevated alpha-fetoprotein | Occasional (29-5%) |
| HP:0007441 | Hyperpigmented/hypopigmented macules | Occasional (29-5%) |
| HP:0008551 | Microtia | Occasional (29-5%) |
| HP:0008635 | Hypertrophy of the urinary bladder | Occasional (29-5%) |
| HP:0008676 | Congenital megaureter | Occasional (29-5%) |
| HP:0008718 | Unilateral renal dysplasia | Occasional (29-5%) |
| HP:0008994 | Proximal muscle weakness in lower limbs | Occasional (29-5%) |
| HP:0010282 | Thin lower lip vermilion | Occasional (29-5%) |
| HP:0010544 | Vertical nystagmus | Occasional (29-5%) |
| HP:0010804 | Tented upper lip vermilion | Occasional (29-5%) |
| HP:0010880 | Increased nuchal translucency | Occasional (29-5%) |
| HP:0011271 | Prominent tragus | Occasional (29-5%) |
| HP:0011333 | Asymmetric crying face | Occasional (29-5%) |
| HP:0025025 | Rectovestibular fistula | Occasional (29-5%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 1 |
| HP:0001263 | Global developmental delay | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0200134 | Epileptic encephalopathy | 1 |