| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (4.0%) |
23890587 |
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Helander A, Stodberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G. Mol Genet Metab. 2013;110(3):342-4. |
| Autism | ||
| DOLK PMM2 | ||
| c|SUB|T|2|C;RS#:587777137 rs587777137 | ||
| Child Congenital Disorders of Glycosylation Females Genotype Homo sapiens Infant Male Mutation Phosphotransferases (Alcohol Group Acceptor) Sibling Transferrin | ||
| 11 (4.0%) |
22649348 (3362223) |
Macular hypoplasia in congenital disorder of glycosylation type ia. Wang BZ, Siriwardana P, Taranath D. Case Rep Ophthalmol. 2012;3(1):142-4. |
| Macular hypoplasia | ||
| rs398123309 | ||
| 11 (4.0%) |
22374380 |
Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia. Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP. Pediatr Cardiol. 2012;33(5):827-30. |
| Cardiomyopathy | ||
| Autopsy Cardiac Tamponade Congenital Disorders of Glycosylation Echocardiography Fatal Outcome Females Homo sapiens Hypertrophic Cardiomyopathy Missense Mutation Sibling | ||
| 11 (4.0%) |
20638314 |
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Leticee N, Bessieres-Grattagliano B, Dupre T, Vuillaumier-Barrot S, de Lonlay P, Razavi F, El Khartoufi N, Ville Y, Vekemans M, Bouvier R, Seta N, Attie-Bitach T. Mol Genet Metab. 2010;101(2-3):253-7. |
| Anemia | ||
| PMM2 | ||
| rs80338701 | ||
| Congenital Disorders of Glycosylation Females Homo sapiens Hydrops Fetalis Lysosomal Storage Diseases Pregnancy | ||
| 11 (4.0%) |
20398363 (2861021) |
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J. Orphanet J Rare Dis. 2010;5:7. |
| Strabismus | ||
| ALG6 TF | ||
| c|SUB|A|482|G;RS#:201354339 p|SUB|Y|161|C;RS#:201354339 | ||
| Cardiomyopathy, Dilated Child Congenital Disorders of Glycosylation Glucosyltransferases Homo sapiens Male Membrane Proteins Mutation | ||
| 11 (4.0%) |
19757145 |
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. Footitt EJ, Karimova A, Burch M, Yayeh T, Dupre T, Vuillaumier-Barrot S, Chantret I, Moore SE, Seta N, Grunewald S. J Inherit Metab Dis. 2009;32 Suppl 1:S313-9. |
| Cardiomyopathy | ||
| Blood Coagulation Disorders Cardiomyopathies Child Congenital Disorders of Glycosylation Fatal Outcome Females Heart-Assist Devices Homo sapiens | ||
| 11 (4.0%) |
19396570 |
Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. J Inherit Metab Dis. 2009;32 Suppl 1:S241-51. |
| Hypothyroidism | ||
| rs190521996 rs398123309 rs532870929 rs80338702 | ||
| Brain Child, Preschool Congenital Disorders of Glycosylation Congenital Hyperinsulinism Differential Diagnosis Females Homo sapiens Infant Infant, Newborn Male Multiple Organ Failure Mutation Nesidioblastosis Olivopontocerebellar Atrophies | ||
| 11 (4.0%) |
19168813 |
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions. Jamroz E, Adamek D, Paprocka J, Adamowicz M, Marszal E, Wevers RA. J Child Neurol. 2009;24(1):13-8. |
| Ataxia | ||
| PMM2 | ||
| rs768021123 rs786204436 | ||
| Congenital Disorders of Glycosylation Cytomegalovirus Infections Females Homo sapiens Infant | ||
| 11 (4.0%) |
19165618 |
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. Thong MK, Fietz M, Nicholls C, Lee MH, Asma O. J Inherit Metab Dis. 2009;32 Suppl 1:S41-4. |
| Hypothyroidism | ||
| PMM2 | ||
| c|SUB|C|618|A c|SUB|T|422|A;RS#:28936415 p|SUB|F|206|L;RS#:750490877 p|SUB|F|206|S p|SUB|L|206|F;RS#:750490877 p|SUB|R|141|H;RS#:28936415 rs1460691341 | ||
| Amino Acid Sequence Asians Congenital Disorders of Glycosylation Exons Fatal Outcome Females Genetic Counseling Heterozygote Homo sapiens Infant Infant, Newborn Malaysia Male Missense Mutation Molecular Sequence Data Mutation Pregnancy Sequence Homology, Amino Acid | ||
| 11 (4.0%) |
18571450 |
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RC, Wevers RA, Morava E. Mol Genet Metab. 2008;94(4):481-4. |
| Ascites | ||
| PMM2 TF | ||
| rs1258107584 rs1555448899 rs80338704 | ||
| Ascitic Fluid Fatal Outcome Females Homo sapiens Inborn Errors of Metabolism Infant Male Transferrin |
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 |