| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (66.9%) |
10063711 |
Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. Chen CC, Chiu PC, Shieh KS. Zhonghua Yi Xue Za Zhi (Taipei). 1999;62(1):40-5. |
| Frontal bossing Short finger | ||
| GLB1 | ||
| Basal Ganglia Diseases Calcinosis Gangliosidosis GM1 Homo sapiens Infant Male | ||
| 2 (39.0%) |
3926630 |
GM1 gangliosidosis: clinical and laboratory findings in eight families. Giugliani R, Dutra JC, Pereira ML, Rotta N, Drachler Mde L, Ohlweiller L, Pina Neto JM, Pinheiro CE, Breda DJ. Hum Genet. 1985;70(4):347-54. |
| Macrocephaly | ||
| GLB1 | ||
| Females Genetic Carrier Screening Homo sapiens Infant Infant, Newborn Leukocytes Male Oligosaccharides Tay-Sachs Disease beta-Galactosidase | ||
| 3 (38.6%) |
2123760 |
[Three siblings with type 3 GM1-gangliosidosis--pathophysiology of dystonia and MRI findings]. Uyama E, Terasaki T, Owada M, Naito M, Araki S. Rinsho Shinkeigaku. 1990;30(8):819-27. |
| Facial grimacing Scoliosis | ||
| Adult Corneal Opacity Dystonia Gangliosidoses Homo sapiens Magnetic Resonance Imaging Male | ||
| 4 (30.2%) |
3929160 |
Type 3 (adult) GM1 gangliosidosis: case report. Ohta K, Tsuji S, Mizuno Y, Atsumi T, Yahagi T, Miyatake T. Neurology. 1985;35(10):1490-4. |
| Dementia Flattened femoral head | ||
| GLB1 | ||
| Ganglioside GM1 Gangliosidoses Homo sapiens Male Middle Aged beta-Galactosidase | ||
| 5 (26.3%) |
21186560 |
[GM1 gangliosidosis--case report]. Obradovic S, Laban O, Igrutinovic Z, Vuletic B, Vujic A, Dindic J. Med Pregl. 2010;63(5-6):427-30. |
| Wide nose | ||
| Females Gangliosidosis GM1 Homo sapiens Infant | ||
| 5 (26.3%) |
17712606 |
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis. Brunetti-Pierri N, Mian A, Luetchke R, Graham BH. J Inherit Metab Dis. 2007;30(5):823. |
| Coarse facial features | ||
| GLB1 NEU1 | ||
| c|INS|IVS1+2|T | ||
| Females Fetal Growth Retardation Gangliosidosis GM1 Gestational Age Homo sapiens Homozygote Infant, Newborn Male Mutation Oligohydramnios Placenta Pregnancy Vacuole beta-Galactosidase | ||
| 5 (26.3%) |
15389993 |
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Muthane U, Chickabasaviah Y, Kaneski C, Shankar SK, Narayanappa G, Christopher R, Govindappa SS. Mov Disord. 2004;19(11):1334-41. |
| Facial grimacing | ||
| GLB1 | ||
| Adult Bone Marrow Differential Diagnosis Dominance, Cerebral Dystonia Females Gangliosidosis GM1 Homo sapiens India Intellectual Disability Magnetic Resonance Imaging Male Neurologic Examination Neuropsychological Tests Parkinsonian Disorders Speech Disorders | ||
| 5 (26.3%) |
8016916 |
I-cell disease. A case report and review of the literature. Gungor N, Coskun T, Akcoren Z, Caglar M. Turk J Pediatr. 1994;36(2):145-52. |
| Coarse facial features | ||
| Fatal Outcome Females Homo sapiens Infant Mucolipidoses | ||
| 5 (26.3%) |
1336295 |
Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Uyama E, Terasaki T, Watanabe S, Naito M, Owada M, Araki S, Ando M. Acta Neurol Scand. 1992;86(6):609-15. |
| Facial grimacing | ||
| Adult Brain Dystonia Electron Microscopy Ganglioside GM1 Gangliosidosis GM1 Homo sapiens Inclusion Bodies Magnetic Resonance Imaging Male Neurologic Examination beta-Galactosidase | ||
| 10 (23.3%) |
22371915 |
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. Sohn YB, Park HD, Park SW, Kim SH, Cho SY, Ko AR, Ki CS, Yeau S, Jin DK. Ann Clin Lab Sci. 2012;42(1):89-93. |
| Scoliosis | ||
| c|INS|13_14|A c|SUB|G|367|A;RS#:768082024|28934274 p|FS|L|5|H|29 p|SUB|G|123|R;RS#:28934274 | ||
| Asians Base Sequence Child DNA Mutational Analysis Homo sapiens Male Molecular Sequence Data Mucopolysaccharidosis IV Mutation Polymerase Chain Reaction South Korea beta-Galactosidase |
Total: 48
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000280 | Coarse facial features | Very frequent (99-80%) |
| HP:0000343 | Long philtrum | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000455 | Broad nasal tip | Very frequent (99-80%) |
| HP:0000457 | Depressed nasal ridge | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0000940 | Abnormal diaphysis morphology | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001257 | Spasticity | Very frequent (99-80%) |
| HP:0001347 | Hyperreflexia | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0001824 | Weight loss | Very frequent (99-80%) |
| HP:0002007 | Frontal bossing | Very frequent (99-80%) |
| HP:0002383 | Encephalitis | Very frequent (99-80%) |
| HP:0002650 | Scoliosis | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002829 | Arthralgia | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004345 | Ganglioside accumulation | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent (99-80%) |
| HP:0100670 | Rough bone trabeculation | Very frequent (99-80%) |
| HP:0000023 | Inguinal hernia | Frequent (79-30%) |
| HP:0000158 | Macroglossia | Frequent (79-30%) |
| HP:0000212 | Gingival overgrowth | Frequent (79-30%) |
| HP:0000303 | Mandibular prognathia | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000951 | Abnormality of the skin | Frequent (79-30%) |
| HP:0001250 | Seizures | Frequent (79-30%) |
| HP:0001251 | Ataxia | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0002230 | Generalized hirsutism | Frequent (79-30%) |
| HP:0003307 | Hyperlordosis | Frequent (79-30%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Frequent (79-30%) |
| HP:0007325 | Generalized dystonia | Frequent (79-30%) |
| HP:0007957 | Corneal opacity | Frequent (79-30%) |
| HP:0100022 | Abnormality of movement | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000045 | Abnormality of the scrotum | Occasional (29-5%) |
| HP:0000618 | Blindness | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0001635 | Congestive heart failure | Occasional (29-5%) |
| HP:0002205 | Recurrent respiratory infections | Occasional (29-5%) |
| HP:0008046 | Abnormal retinal vascular morphology | Occasional (29-5%) |
| HP:0010729 | Cherry red spot of the macula | Occasional (29-5%) |
Total: 26
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001332 | Dystonia | 11 |
| HP:0007325 | Generalized dystonia | 3 |
| HP:0000726 | Dementia | 2 |
| HP:0001260 | Dysarthria | 2 |
| HP:0001268 | Mental deterioration | 2 |
| HP:0001288 | Gait disturbance | 2 |
| HP:0001433 | Hepatosplenomegaly | 2 |
| HP:0001541 | Ascites | 2 |
| HP:0002063 | Rigidity | 2 |
| HP:0003271 | Visceromegaly | 2 |
| HP:0004345 | Ganglioside accumulation | 2 |
| HP:0000280 | Coarse facial features | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0001014 | Angiokeratoma | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0002024 | Malabsorption | 1 |
| HP:0002093 | Respiratory insufficiency | 1 |
| HP:0002135 | Basal ganglia calcification | 1 |
| HP:0002180 | Neurodegeneration | 1 |
| HP:0002312 | Clumsiness | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0003552 | Muscle stiffness | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0007272 | Progressive psychomotor deterioration | 1 |
| HP:0012733 | Macule | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|