Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2
| Disorder | |
|---|---|
| OMIM #: | #619418 (Click to access OMIM database) |
| Disorder: | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2 |
| Also known as: | IMNEPD2 YARSopathy |
| Clinical | |
| Phenotype: | growth deficiency, developmental delay, motor delay, hypotonia, abnormal brain white matter, hearing loss, involuntary eye movements, facial dysmorphism, progressive cholestatic liver disease, steatosis, hepatic fibrosis, pancreatic insufficiency, amenorrhea, hypothyroidism, renal failure, hypoglycemia, anemia, proteinuria, recurrent bloodstream infections, chronic pulmonary disease |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Amish | |
| Gene: | YARS |
| Base Change: | C>A, at nucleotide 499 |
| Amino Acid Change: | pro 167 --> thr |
| Last updated: | 2022-11-05 |
| References |
|---|
| Williams KB, Brigatti KW, Puffenberger EG, Gonzaga-Jauregui C, Griffin LB, Martinez ED, Wenger OK, Yoder M, Kandula VVR, Fox MD, Demczko MM, Poskitt L, Furuya KN, Reid JG, Overton JD, Baras A, Miles L, Radhakrishnan K, Carson VJ, Antonellis A, Jinks RN, Strauss KA. (2018) Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease. Hum Mol Genet Feb 15;28(4):525-538. PubMed ID: 30304524 |
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