| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (4.0%) |
30071302 |
A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation. Abiramalatha T, Arunachal G, Muthusamy K, Thomas N. Eur J Med Genet. 2019;62(4):248-253. |
| Hearing impairment | ||
| PMM2 RFT1 TF | ||
| c|SUB|G|1018|A;RS#:568474177 p|SUB|G|340|S;RS#:568474177 | ||
| Adult Congenital Disorders of Glycosylation Differential Diagnosis Fatal Outcome Females Homo sapiens Infant, Newborn Male Membrane Glycoproteins Missense Mutation Phenotype Respiratory Distress Syndrome, Newborn | ||
| 11 (4.0%) |
29623892 |
Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome. Lefrere B, Stepanian A, Itzhar-Baikian N, Charles P, Hadj-Ali A, Joly B, Alhenc-Gelas M, Drouet L, Veyradier A, Siguret V. Ann Biol Clin (Paris). 2018;76(2):217-223. |
| Deep venous thrombosis | ||
| F8 SERPINC1 | ||
| Adult Congenital Disorders of Glycosylation Females Homo sapiens Rare Diseases Venous Thrombosis | ||
| 11 (4.0%) |
29361989 (5781283) |
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report. Wu RH, Li DF, Tang WT, Qiu KY, Li Y, Liao XY, Tang DX, Qin LJ, Deng BQ, Luo XY. J Med Case Rep. 2018;12(1):17. |
| Nystagmus | ||
| PMM2 | ||
| p|SUB|I|132|T;RS#:80338702 p|SUB|I|153|X | ||
| Atrial Septal Defects Cerebellum Congenital Disorders of Glycosylation Echocardiography, Doppler Homo sapiens Infant Lung Magnetic Resonance Imaging Male Missense Mutation | ||
| 11 (4.0%) |
28954837 |
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. Schiff M, Roda C, Monin ML, Arion A, Barth M, Bednarek N, Bidet M, Bloch C, Boddaert N, Borgel D, Brassier A, Brice A, Bruneel A, Buissonniere R, Chabrol B, Chevalier MC, Cormier-Daire V, De Barace C, De Maistre E, De Saint-Martin A, Dorison N, Drouin-Garraud V, Dupre T, Echenne B, Edery P, Feillet F, Fontan I, Francannet C, Labarthe F, Gitiaux C, Heron D, Hully M, Lamoureux S, Martin-Coignard D, Mignot C, Morin G, Pascreau T, Pincemaille O, Polak M, Roubertie A, Thauvin-Robinet C, Toutain A, Viot G, Vuillaumier-Barrot S, Seta N, De Lonlay P. J Med Genet. 2017;54(12):843-851. |
| Nephrotic syndrome | ||
| p|SUB|R|141|H;RS#:28936415 | ||
| Alleles Amino Acid Substitution Child Child, Preschool Congenital Disorders of Glycosylation Females Follow-Up Studies Genetic Association Studies Homo sapiens Infant Male Mutation Phenotype | ||
| 11 (4.0%) |
26331032 (4552392) |
Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum. Noreau A, Beauchemin P, Dionne-Laporte A, , Dion PA, Rouleau GA, Dupre N. Cerebellum Ataxias. 2014;1:8. |
| Ataxia | ||
| PMM2 | ||
| 11 (4.0%) |
25681648 |
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease. Choi R, Woo HI, Choe BH, Park S, Yoon Y, Ki CS, Lee SY, Kim JW, Song J, Kim DS, Kwon S, Park HD. Clin Chim Acta. 2015;444:50-3. |
| Seizure | ||
| G6PC GAA PMM2 | ||
| c|SUB|C|580|T;RS#:199562225 c|SUB|G|713|C p|SUB|R|194|*;RS#:199562225 p|SUB|R|238|P rs151319324 | ||
| Congenital Disorders of Glycosylation Exome Females Gastrointestinal Diseases Glycogen Storage Disease Homo sapiens Infant Mutation Nucleic Acid Amplification Techniques | ||
| 11 (4.0%) |
25192236 |
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. Stefanits H, Konstantopoulou V, Kuess M, Milenkovic I, Matula C. J Neurosurg Pediatr. 2014;14(5):546-9. |
| Intracranial hemorrhage | ||
| PMM2 | ||
| Cerebral Hemorrhage Child, Preschool Congenital Disorders of Glycosylation DNA Mutational Analysis Females Homo sapiens Magnetic Resonance Imaging Neurosurgical Procedures | ||
| 11 (4.0%) |
24555185 |
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Pediatr Dermatol. 2014;31(1):e1-5. |
| Failure to thrive | ||
| ALG8 ATP6V0A2 COG7 PMM2 | ||
| Fatal Outcome Glucosyltransferases Homo sapiens Infant Male Skin Aging | ||
| 11 (4.0%) |
24493206 (3990245) |
Ophthalmic findings in an infant with phosphomannomutase deficiency. Messenger WB, Yang P, Pennesi ME. Doc Ophthalmol. 2014;128(2):149-53. |
| Esotropia | ||
| PMM2 | ||
| Cerebellum Congenital Disorders of Glycosylation Developmental Disabilities Electroretinography Esotropia Females Homo sapiens Infant Retina Retinal Diseases Tomography, Optical Coherence | ||
| 11 (4.0%) |
24037084 |
Subcutaneous fat pads on body MRI--an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). Al-Maawali AA, Miller E, Schulze A, Yoon G, Blaser SI. Pediatr Radiol. 2014;44(2):222-5. |
| Failure to thrive | ||
| PMM2 | ||
| rs398123309 | ||
| Congenital Disorders of Glycosylation Early Diagnosis Females Homo sapiens Magnetic Resonance Imaging Male Subcutaneous Fat |
Total: 86
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000218 | High palate | Very frequent (99-80%) |
| HP:0000486 | Strabismus | Very frequent (99-80%) |
| HP:0000582 | Upslanted palpebral fissure | Very frequent (99-80%) |
| HP:0000154 | Wide mouth | Frequent (79-30%) |
| HP:0000219 | Thin upper lip vermilion | Frequent (79-30%) |
| HP:0000276 | Long face | Frequent (79-30%) |
| HP:0000278 | Retrognathia | Frequent (79-30%) |
| HP:0000286 | Epicanthus | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000316 | Hypertelorism | Frequent (79-30%) |
| HP:0000343 | Long philtrum | Frequent (79-30%) |
| HP:0000448 | Prominent nose | Frequent (79-30%) |
| HP:0000463 | Anteverted nares | Frequent (79-30%) |
| HP:0000565 | Esotropia | Frequent (79-30%) |
| HP:0000750 | Delayed speech and language development | Frequent (79-30%) |
| HP:0000938 | Osteopenia | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001263 | Global developmental delay | Frequent (79-30%) |
| HP:0001265 | Hyporeflexia | Frequent (79-30%) |
| HP:0001321 | Cerebellar hypoplasia | Frequent (79-30%) |
| HP:0001388 | Joint laxity | Frequent (79-30%) |
| HP:0001763 | Pes planus | Frequent (79-30%) |
| HP:0001999 | Abnormal facial shape | Frequent (79-30%) |
| HP:0002013 | Vomiting | Frequent (79-30%) |
| HP:0002751 | Kyphoscoliosis | Frequent (79-30%) |
| HP:0003186 | Inverted nipples | Frequent (79-30%) |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | Frequent (79-30%) |
| HP:0008936 | Muscular hypotonia of the trunk | Frequent (79-30%) |
| HP:0009125 | Lipodystrophy | Frequent (79-30%) |
| HP:0011220 | Prominent forehead | Frequent (79-30%) |
| HP:0011968 | Feeding difficulties | Frequent (79-30%) |
| HP:0012448 | Delayed myelination | Frequent (79-30%) |
| HP:0100807 | Long fingers | Frequent (79-30%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Occasional (29-5%) |
| HP:0000091 | Abnormal renal tubule morphology | Occasional (29-5%) |
| HP:0000093 | Proteinuria | Occasional (29-5%) |
| HP:0000100 | Nephrotic syndrome | Occasional (29-5%) |
| HP:0000377 | Abnormality of the pinna | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000426 | Prominent nasal bridge | Occasional (29-5%) |
| HP:0000510 | Rod-cone dystrophy | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000842 | Hyperinsulinemia | Occasional (29-5%) |
| HP:0000845 | Growth hormone excess | Occasional (29-5%) |
| HP:0000855 | Insulin resistance | Occasional (29-5%) |
| HP:0000870 | Prolactin excess | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001320 | Cerebellar vermis hypoplasia | Occasional (29-5%) |
| HP:0001395 | Hepatic fibrosis | Occasional (29-5%) |
| HP:0001508 | Failure to thrive | Occasional (29-5%) |
| HP:0001698 | Pericardial effusion | Occasional (29-5%) |
| HP:0001929 | Reduced factor XI activity | Occasional (29-5%) |
| HP:0001945 | Fever | Occasional (29-5%) |
| HP:0001976 | Reduced antithrombin III activity | Occasional (29-5%) |
| HP:0002098 | Respiratory distress | Occasional (29-5%) |
| HP:0002280 | Enlarged cisterna magna | Occasional (29-5%) |
| HP:0002828 | Multiple joint contractures | Occasional (29-5%) |
| HP:0002910 | Elevated hepatic transaminase | Occasional (29-5%) |
| HP:0002925 | Increased thyroid-stimulating hormone level | Occasional (29-5%) |
| HP:0003073 | Hypoalbuminemia | Occasional (29-5%) |
| HP:0005562 | Multiple renal cysts | Occasional (29-5%) |
| HP:0008734 | Decreased testicular size | Occasional (29-5%) |
| HP:0009830 | Peripheral neuropathy | Occasional (29-5%) |
| HP:0010463 | Aplasia of the ovary | Occasional (29-5%) |
| HP:0011443 | Abnormality of coordination | Occasional (29-5%) |
| HP:0011842 | Abnormality of skeletal morphology | Occasional (29-5%) |
| HP:0011858 | Reduced factor IX activity | Occasional (29-5%) |
| HP:0011951 | Aspiration pneumonia | Occasional (29-5%) |
| HP:0012509 | Reduced thyroxin-binding globulin | Occasional (29-5%) |
| HP:0012882 | Hyperplastic labia majora | Occasional (29-5%) |
| HP:0030146 | Abnormal liver parenchyma morphology | Occasional (29-5%) |
| HP:0030609 | Photoreceptor layer loss on macular OCT | Occasional (29-5%) |
| HP:0000926 | Platyspondyly | Very rare (4-1%) |
| HP:0001004 | Lymphedema | Very rare (4-1%) |
| HP:0001305 | Dandy-Walker malformation | Very rare (4-1%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Very rare (4-1%) |
| HP:0001681 | Angina pectoris | Very rare (4-1%) |
| HP:0001701 | Pericarditis | Very rare (4-1%) |
| HP:0002170 | Intracranial hemorrhage | Very rare (4-1%) |
| HP:0002625 | Deep venous thrombosis | Very rare (4-1%) |
| HP:0012050 | Anasarca | Very rare (4-1%) |
| HP:0031404 | Impaired antigen-specific response | Very rare (4-1%) |
| HP:0040238 | Impaired neutrophil chemotaxis | Very rare (4-1%) |
Total: 25
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001272 | Cerebellar atrophy | 2 |
| HP:0002401 | Stroke-like episode | 2 |
| HP:0000486 | Strabismus | 1 |
| HP:0000546 | Retinal degeneration | 1 |
| HP:0000639 | Nystagmus | 1 |
| HP:0001104 | Macular hypoplasia | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001271 | Polyneuropathy | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001321 | Cerebellar hypoplasia | 1 |
| HP:0001337 | Tremor | 1 |
| HP:0001508 | Failure to thrive | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002186 | Apraxia | 1 |
| HP:0002625 | Deep venous thrombosis | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0003186 | Inverted nipples | 1 |
| HP:0012758 | Neurodevelopmental delay | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0025402 | Square-wave jerks | 1 |
| HP:0025533 | Peau d'orange | 1 |
| HP:0031931 | Ocular flutter | 1 |