| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (61.8%) |
28932688 (5596360) |
ALG9-CDG: New clinical case and review of the literature. Davis K, Webster D, Smith C, Jackson S, Sinasac D, Seargeant L, Wei XC, Ferreira P, Midgley J, Foster Y, Li X, He M, Al-Hertani W. Mol Genet Metab Rep. 2017;13:55-63. |
| Micrognathia Shallow orbits | ||
| ALG9 TF | ||
| c|SUB|A|860|G;RS#:121908023 p|SUB|Y|287|C;RS#:121908023 | ||
| 2 (46.3%) |
28619360 |
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing. Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK. Clin Chim Acta. 2017;471:191-195. |
| Microcephaly Talipes equinovarus | ||
| COG8 TF | ||
| c|DUP|1656|C| p|FS|A|553|R|15 p|FS|L|58|A|29;RS#:774368102 | ||
| Adaptor Proteins, Vesicular Transport Child Congenital Disorders of Glycosylation Exome Heterozygote Homo sapiens Male Mutation Whole Exome Sequencing | ||
| 3 (39.8%) |
19648040 |
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Stolting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T. Mol Genet Metab. 2009;98(3):305-9. |
| Epicanthus Hypotonia | ||
| c|DEL|1434|C c|SUB|C|845|T p|SUB|A|282|V | ||
| Carbohydrate Metabolism, Inborn Errors Glucosyltransferases Homo sapiens Mutation Phenotype Sibling | ||
| 4 (39.0%) |
30690882 |
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype. Arora V, Puri RD, Bhai P, Sharma N, Bijarnia-Mahay S, Dimri N, Baijal A, Saxena R, Verma I. Am J Med Genet A. 2019;179(3):480-485. |
| Dandy-Walker malformation | ||
| COG8 | ||
| Adaptor Proteins, Vesicular Transport Base Sequence Congenital Disorders of Glycosylation Exons Genetic Association Studies Genetic Predisposition to Disease Homo sapiens Infant, Newborn Introns Male Mutation Phenotype RNA Splice Sites Sequence Analysis, DNA Ultrasonography, Prenatal | ||
| 4 (39.0%) |
29709711 |
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J. Eur J Med Genet. 2019;62(1):44-46. |
| Microcephaly | ||
| COG6 | ||
| c|SUB|A|1|G;RS#:752232501 c|SUB|C|388|T | ||
| Adaptor Proteins, Vesicular Transport Congenital Disorders of Glycosylation Heterozygote Homo sapiens Infant Male Mutation Phenotype | ||
| 4 (39.0%) |
28777499 |
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing. Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. Am J Med Genet A. 2017;173(10):2772-2775. |
| Microcephaly | ||
| ALG13 ICAM1 TF | ||
| p|SUB|E|463|G;RS#:184599884 | ||
| Child, Preschool Cognition Congenital Disorders of Glycosylation Homo sapiens Isoelectric Focusing Male Mutation N-Acetylglucosaminyltransferases Seizures Transferrin | ||
| 4 (39.0%) |
24218363 |
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, , Freeze HH. Hum Mol Genet. 2014;23(6):1602-5. |
| Microcephaly | ||
| SSR4 | ||
| c|DEL|316|T;RS#:797045179 p|FS|F|106|S|53;RS#:797045179|606231298 rs1057518734 rs606231298 rs794729223 rs797045179 | ||
| Calcium-Binding Proteins Chromosomes, Human, X Congenital Disorders of Glycosylation Cultured Cells Homo sapiens Male Membrane Glycoproteins Peptide Receptor Point Mutation Receptors, Cytoplasmic and Nuclear | ||
| 4 (39.0%) |
23856421 (3800268) |
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Mol Genet Metab. 2013;110(3):345-351. |
| Microcephaly | ||
| DPM1 DPM3 TF | ||
| c|SUB|G|455|T;RS#:587777116 p|SUB|G|152|V;RS#:587777116 rs587777116 | ||
| Biopsy Congenital Disorders of Glycosylation Differential Diagnosis Disease Progression Enzyme Activation Exons Females Gene Order Homo sapiens Infant Male Mannosyltransferases Muscular Dystrophy Mutation | ||
| 4 (39.0%) |
23249953 |
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S. Eur J Hum Genet. 2013;21(8):844-9. |
| Microcephaly | ||
| DPAGT1 TF | ||
| c|SUB|A|85|T;RS#:397515328 c|SUB|T|503|C;RS#:397515329 p|SUB|I|29|F;RS#:397515328 p|SUB|L|168|P;RS#:397515329 rs1185483085 rs397515328 rs397515329 rs772988029 | ||
| Adult Congenital Disorders of Glycosylation DNA Mutational Analysis Exome Females Heterozygote Homo sapiens Male Missense Mutation N-Acetylglucosaminyltransferases Phenotype Transferrin | ||
| 4 (39.0%) |
22304930 |
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Wurde AE, Reunert J, Rust S, Hertzberg C, Haverkamper S, Nurnberg G, Nurnberg P, Lehle L, Rossi R, Marquardt T. Mol Genet Metab. 2012;105(4):634-41. |
| Microcephaly | ||
| c|SUB|A|114|G;RS#:397515327 c|SUB|A|660|G c|SUB|C|341|G;RS#:397515327 c|SUB|G|162-8|A p|SUB|I|297|F;RS#:149849246 p|SUB|Y|170|C;RS#:28934876 rs1185483085 rs397515327 rs772988029 | ||
| Adult Amino Acid Sequence Congenital Disorders of Glycosylation Cultured Cells Females Fibroblasts Homo sapiens Homozygote Immunoprecipitation Infant, Newborn Lipopolysaccharides Molecular Sequence Data Mutation Polyacrylamide Gel Electrophoresis Rare Diseases Sequence Homology, Amino Acid Skin Transferases (Other Substituted Phosphate Groups) |
Total: 19
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0012469 | Infantile spasms | Obligate (100%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0001290 | Generalized hypotonia | Frequent (79-30%) |
| HP:0002521 | Hypsarrhythmia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Occasional (29-5%) |
| HP:0000331 | Short chin | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000639 | Nystagmus | Occasional (29-5%) |
| HP:0000717 | Autism | Occasional (29-5%) |
| HP:0000750 | Delayed speech and language development | Occasional (29-5%) |
| HP:0000817 | Poor eye contact | Occasional (29-5%) |
| HP:0001181 | Adducted thumb | Occasional (29-5%) |
| HP:0002283 | Global brain atrophy | Occasional (29-5%) |
| HP:0002312 | Clumsiness | Occasional (29-5%) |
| HP:0002421 | Poor head control | Occasional (29-5%) |
| HP:0004325 | Decreased body weight | Occasional (29-5%) |
| HP:0012443 | Abnormality of brain morphology | Occasional (29-5%) |
| HP:0030047 | Abnormality of lateral ventricle | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 12
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0012345 | Abnormal glycosylation | 4 |
| HP:0000252 | Microcephaly | 3 |
| HP:0001250 | Seizures | 3 |
| HP:0000966 | Hypohidrosis | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0002240 | Hepatomegaly | 1 |
| HP:0002243 | Protein-losing enteropathy | 1 |
| HP:0002719 | Recurrent infections | 1 |
| HP:0010880 | Increased nuchal translucency | 1 |
| HP:0025356 | Psychomotor retardation | 1 |