| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.0%) |
22966035 |
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Pediatrics. 2012;130(4):e1034-9. |
| Microcephaly | ||
| ALG1 PMM2 | ||
| Child Child, Preschool Congenital Disorders of Glycosylation Fatal Outcome Females Genetic Markers Homo sapiens Infant Male Mannosyltransferases Mutation Phenotype Young Adult | ||
| 1 (39.0%) |
12920791 |
[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]. Honzik T, Malonova E, Hansikova H, Rosipal R, Poupetova H, Martasek P, Zeman J. Cas Lek Cesk. 2003;142(5):276-9. |
| Microcephaly | ||
| ARSA GUSB PMM2 SERPINC1 TF | ||
| c|SUB|C|357|A;RS#:80338701 c|SUB|C|IVS5+19|T c|SUB|G|422|A;RS#:563605311|28936415 c|SUB|T|IVS5+22|A | ||
| Cerebellum Child Congenital Disorders of Glycosylation Females Homo sapiens Infant Male Mutation | ||
| 3 (35.4%) |
24739649 |
Congenital disorders of glycosylation with neonatal presentation. Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proenca E. BMJ Case Rep. 2014;2014:. |
| Arachnodactyly | ||
| PMM2 | ||
| c|SUB|G|193|T;RS#:104894527 c|SUB|T|470|C;RS#:190521996 p|SUB|D|65|Y;RS#:104894527 p|SUB|F|157|S;RS#:190521996 rs190521996 | ||
| Cerebellum Congenital Disorders of Glycosylation Developmental Disabilities Echocardiography Homo sapiens Hypertrophic Cardiomyopathy Infant, Newborn Magnetic Resonance Spectroscopy Male Mutation | ||
| 4 (23.3%) |
17639595 |
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Krasnewich D, O'Brien K, Sparks S. Am J Med Genet C Semin Med Genet. 2007;145C(3):302-6. |
| Hypogonadism Osteopenia Kyphoscoliosis | ||
| Adult Child Child, Preschool Congenital Disorders of Glycosylation Females Homo sapiens Male | ||
| 5 (21.2%) |
19176971 |
Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Malhotra A, Pateman A, Chalmers R, Coman D, Menahem S. Fetal Diagn Ther. 2009;25(1):54-7. |
| Pericardial effusion Multiple skeletal anomalies | ||
| Congenital Abnormality Congenital Heart Defects Fetus Homo sapiens Inborn Errors of Metabolism Infant, Newborn Male Ultrasonography, Prenatal | ||
| 5 (21.2%) |
16423609 |
Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA. Schade van Westrum SM, Nederkoorn PJ, Schuurman PR, Vulsma T, Duran M, Poll-The BT. J Pediatr. 2006;148(1):115-7. |
| Spinal cord compression Skeletal dysplasia | ||
| Congenital Disorders of Glycosylation Decompression, Surgical Developmental Disabilities Homo sapiens Infant Male Paresis Spinal Cord Diseases | ||
| 7 (17.5%) |
28807751 |
A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect. Vicario M, Cali T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E. Biochim Biophys Acta Mol Basis Dis. 2017;1863(12):3303-3312. |
| Nystagmus Hypotonia | ||
| ATP2B3 PMM2 | ||
| p|SUB|G|214|S p|SUB|G|733|R p|SUB|R|123|Q;RS#:141498002 rs1555453238 | ||
| Ataxia Brain Child, Preschool Congenital Disorders of Glycosylation HeLa Cells Homo sapiens Male Missense Mutation Plasma Membrane Calcium-Transporting ATPases | ||
| 7 (17.5%) |
27343064 (4919849) |
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE. Orphanet J Rare Dis. 2016;11(1):84. |
| Cryptorchidism Hypertonia | ||
| DHDDS PMM2 | ||
| p|SUB|F|304|S rs147394623 rs1553121545 rs764831063 | ||
| Alkyl and Aryl Transferases Congenital Disorders of Glycosylation Dolichols Exons Glycoproteins Hep G2 Cells Homo sapiens Infant, Newborn Male Mutation Oligosaccharides Polysaccharides RNA, Small Interfering Skin Thin Layer Chromatography | ||
| 7 (17.5%) |
22012410 |
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). Casado M, O'Callaghan MM, Montero R, Perez-Cerda C, Perez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R. Cerebellum. 2012;11(2):557-63. |
| Strabismus Lipodystrophy | ||
| PMM2 TF | ||
| c|SUB|G|368|A;RS#:141498002 c|SUB|G|722|C;RS#:80338709 c|SUB|T|470|C;RS#:190521996 p|SUB|C|241|S;RS#:80338709 p|SUB|F|157|S;RS#:190521996 p|SUB|R|123|Q;RS#:141498002 rs190521996 rs80338709 | ||
| Brain Cerebellum Congenital Disorders of Glycosylation DNA DNA Mutational Analysis Developmental Disabilities Females Fibroblasts Gait Disorders, Neurologic Homo sapiens Image Processing, Computer-Assisted Infant Isoelectric Focusing Lipodystrophy Magnetic Resonance Imaging Neurologic Examination Phenotype Transferrin | ||
| 7 (17.5%) |
15714316 |
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM. Acta Neuropathol. 2005;109(4):433-42. |
| Hypotonia | ||
| PMM2 | ||
| p|SUB|T|237|R;RS#:80338708 p|SUB|V|231|M;RS#:80338707 rs80338707 rs80338708 | ||
| Calbindins Cerebellum Congenital Disorders of Glycosylation DNA Mutational Analysis Homo sapiens Immunohistochemistry Infant, Newborn Male Mutation Neuroglia Neurons Transmission Electron Microscopy Vimentin |
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 |