Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (39.3%) |
26028276 |
X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene. Jdrzejowska M, Jakubowska-Pietkiewicz E, Kostera-Pruszczyk A. Neuromuscul Disord. 2015;25(8):661-6. |
Open mouth Bone fracture | ||
UBA1 | ||
c|SUB|C|1731|T;RS#:80356547 | ||
Arthrogryposis Genetic Diseases, X-Linked Homo sapiens Infant, Newborn Male Mutation Ubiquitin-Activating Enzymes | ||
2 (4.0%) |
23518311 |
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. Dlamini N, Josifova DJ, Paine SM, Wraige E, Pitt M, Murphy AJ, King A, Buk S, Smith F, Abbs S, Sewry C, Jacques TS, Jungbluth H. Neuromuscul Disord. 2013;23(5):391-8. |
Areflexia | ||
UBA1 | ||
c|SUB|A|1670|T p|SUB|E|557|V | ||
Arthrogryposis Fatal Outcome Genes, X-Linked Genetic Diseases, X-Linked Homo sapiens Infant, Newborn Male Mutation SMN Complex Proteins Spinal Muscular Atrophies of Childhood Ubiquitin-Activating Enzymes | ||
2 (4.0%) |
21336783 |
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation. Berciano J, Baets J, Gallardo E, Zimon M, Garcia A, Lopez-Laso E, Combarros O, Infante J, Timmerman V, Jordanova A, De Jonghe P. J Neurol. 2011;258(8):1413-21. |
Laryngomalacia | ||
p|SUB|R|269|C rs267607144 rs267607146 | ||
Adult Child Electromyography Females Hereditary Motor and Sensory Neuropathies Homo sapiens Magnetic Resonance Imaging Male Mutation Penetrance Phenotype TRPV Cation Channels |
Total: 29
HPO ID | Term | Frequency |
---|---|---|
HP:0001288 | Gait disturbance | Very frequent (99-80%) |
HP:0001387 | Joint stiffness | Very frequent (99-80%) |
HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
HP:0000028 | Cryptorchidism | Frequent (79-30%) |
HP:0000268 | Dolichocephaly | Frequent (79-30%) |
HP:0000343 | Long philtrum | Frequent (79-30%) |
HP:0000347 | Micrognathia | Frequent (79-30%) |
HP:0000431 | Wide nasal bridge | Frequent (79-30%) |
HP:0000470 | Short neck | Frequent (79-30%) |
HP:0000774 | Narrow chest | Frequent (79-30%) |
HP:0001181 | Adducted thumb | Frequent (79-30%) |
HP:0001252 | Muscular hypotonia | Frequent (79-30%) |
HP:0001531 | Failure to thrive in infancy | Frequent (79-30%) |
HP:0002650 | Scoliosis | Frequent (79-30%) |
HP:0002808 | Kyphosis | Frequent (79-30%) |
HP:0003196 | Short nose | Frequent (79-30%) |
HP:0007598 | Bilateral single transverse palmar creases | Frequent (79-30%) |
HP:0009623 | Proximal placement of thumb | Frequent (79-30%) |
HP:0100543 | Cognitive impairment | Frequent (79-30%) |
HP:0000194 | Open mouth | Occasional (29-5%) |
HP:0000400 | Macrotia | Occasional (29-5%) |
HP:0000474 | Thickened nuchal skin fold | Occasional (29-5%) |
HP:0000486 | Strabismus | Occasional (29-5%) |
HP:0000508 | Ptosis | Occasional (29-5%) |
HP:0001231 | Abnormal fingernail morphology | Occasional (29-5%) |
HP:0001250 | Seizures | Occasional (29-5%) |
HP:0006610 | Wide intermamillary distance | Occasional (29-5%) |
HP:0008736 | Hypoplasia of penis | Occasional (29-5%) |
HP:0010781 | Skin dimple | Occasional (29-5%) |
Total: 6
HPO ID | Term | # of case reports |
---|---|---|
HP:0000028 | Cryptorchidism | 1 |
HP:0001284 | Areflexia | 1 |
HP:0001601 | Laryngomalacia | 1 |
HP:0001604 | Vocal cord paresis | 1 |
HP:0007269 | Spinal muscular atrophy | 1 |
HP:0020110 | Bone fracture | 1 |