| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (4.0%) |
18485644 |
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia. Ishikawa N, Tajima G, Ono H, Kobayashi M. Brain Dev. 2009;31(3):240-3. |
| Edema | ||
| Brain Child Child, Preschool Congenital Disorders of Glycosylation Edema Homo sapiens Magnetic Resonance Angiography Magnetic Resonance Imaging Male Necrosis X-Ray Computed Tomography | ||
| 11 (4.0%) |
18093857 |
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia. Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P. Mol Genet Metab. 2008;93(4):444-9. |
| Stroke | ||
| COX8A SERPINC1 | ||
| rs768021123 rs786204436 rs80338702 | ||
| Child Child, Preschool Congenital Disorders of Glycosylation Females Health Risk Assessment Homo sapiens Infant Infant, Newborn Male Thrombosis | ||
| 11 (4.0%) |
18034167 |
Congenital disorders of glycosylation type Ia as a cause of mirror syndrome. Wurm D, Loffler G, Lindinger A, Gortner L. J Perinatol. 2007;27(12):802-4. |
| Edema | ||
| Carbohydrate Metabolism, Inborn Errors Females Homo sapiens Hydrops Fetalis Infant, Newborn Male Pregnancy | ||
| 11 (4.0%) |
17308246 |
Radiologic and neurophysiologic aspects of stroke-like episodes in children with congenital disorder of glycosylation type Ia. Dinopoulos A, Mohamed I, Jones B, Rao S, Franz D, deGrauw T. Pediatrics. 2007;119(3):e768-72. |
| Seizure | ||
| rs368582085 | ||
| Anticonvulsants Brain Child Child, Preschool Congenital Disorders of Glycosylation Electroencephalography Females Homo sapiens | ||
| 11 (4.0%) |
17186415 |
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). Barone R, Sturiale L, Fiumara A, Uziel G, Garozzo D, Jaeken J. J Inherit Metab Dis. 2007;30(1):107. |
| Failure to thrive | ||
| p|SUB|C|241|S rs80338709 |SUB|T|237|R,C | ||
| Carbohydrate Metabolism, Inborn Errors Congenital Disorders of Glycosylation Genotype Homo sapiens Male Mutation Phenotype | ||
| 11 (4.0%) |
17158594 |
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. van de Kamp JM, Lefeber DJ, Ruijter GJ, Steggerda SJ, den Hollander NS, Willems SM, Matthijs G, Poorthuis BJ, Wevers RA. J Med Genet. 2007;44(4):277-80. |
| Congenital thrombocytopenia | ||
| PMM2 | ||
| rs190521996 | ||
| Codon, Nonsense Congenital Heart Defects Fatal Outcome Females Ferritin Glycoproteins Homo sapiens Hydrops Fetalis Hypoalbuminemia Infant, Newborn Isoelectric Focusing Male Missense Mutation Mutagenesis, Insertional Post-Translational Protein Processing Thrombocytopenia Transferrin Ultrasonography, Prenatal | ||
| 11 (4.0%) |
16915591 |
Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Edwards M, McKenzie F, O'callaghan S, Somerset D, Woodford P, Spilsbury J, Fietz M, Fletcher J. Prenat Diagn. 2006;26(10):985-8. |
| Anemia | ||
| TF | ||
| Adult Carbohydrate Metabolism, Inborn Errors Females Fetal Death Homo sapiens Hydrops Fetalis Isoelectric Focusing Transferrin | ||
| 11 (4.0%) |
16826448 |
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia). Blank C, Smith LA, Hammer DA, Fehrenbach M, Delisser HM, Perez E, Sullivan KE. J Inherit Metab Dis. 2006;29(4):592. |
| Cerebellar atrophy | ||
| PMM2 | ||
| B-Lymphocytes Carbohydrate Metabolism, Inborn Errors Cell Adhesion Molecules Chemotaxis, Leukocyte Child, Preschool Homo sapiens Immunoglobulins Infant Infection Male T-Lymphocyte Vaccines | ||
| 11 (4.0%) |
16482534 |
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. Schoffer KL, O'Sullivan JD, McGill J. Mov Disord. 2006;21(6):869-72. |
| Hypogonadism | ||
| Adult Brain Cerebellar Ataxia Congenital Disorders of Glycosylation Differential Diagnosis Homo sapiens Magnetic Resonance Imaging Male Normal Range Transferrin | ||
| 11 (4.0%) |
15664773 |
Underdiagnosis of mild congenital disorders of glycosylation type Ia. Giurgea I, Michel A, Le Merrer M, Seta N, de Lonlay P. Pediatr Neurol. 2005;32(2):121-3. |
| Hyperactivity | ||
| Child, Preschool Females Homo sapiens Inborn Errors of Metabolism Male |
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 |