Rank (Similarity) |
PMID (PMCID) |
|
---|---|---|
1 (4.0%) |
9029640 |
A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency. Willi SM, Zhang Y, Hill JB, Phelan MC, Michaelis RC, Holden KR. Pediatr Res. 1997;41(2):210-3. |
Seizure | ||
CNDP1 | ||
Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 18 Developmental Disabilities Dipeptidases Females Homo sapiens Logistic Models Tremor | ||
1 (4.0%) |
7375183 |
Carnosinase deficiency: a new variant with high residual activity. Fleisher LD, Rassin DK, Wisniewski K, Salwen HR. Pediatr Res. 1980;14(4 Pt 1):269-71. |
Optic atrophy | ||
Amino Acid Metabolism, Inborn Errors Anserine Child Dipeptidases Dipeptides Homo sapiens Intellectual Disability Male Seizures | ||
1 (4.0%) |
7266778 |
Neurological disease in a child with carnosinase deficiency. Wisniewski K, Fleisher L, Rassin D, Lassmann H. Neuropediatrics. 1981;12(2):143-51. |
Polyneuropathy | ||
Child Dipeptidases Electron Microscopy Homo sapiens Intellectual Disability Male Neuromuscular Diseases Skin | ||
1 (4.0%) |
3736769 |
Homocarnosinosis: influence of dietary restriction of histidine. Lunde HA, Gjessing LR, Sjaastad O. Neurochem Res. 1986;11(6):825-38. |
Carnosinuria | ||
Adult Amino Acids Diet Dipeptides Homo sapiens Inborn Errors of Metabolism Male |
Total: 5
HPO ID | Term | Frequency |
---|---|---|
HP:0001249 | Intellectual disability | Very frequent (99-80%) |
HP:0002123 | Generalized myoclonic seizures | Very frequent (99-80%) |
HP:0002353 | EEG abnormality | Very frequent (99-80%) |
HP:0002376 | Developmental regression | Very frequent (99-80%) |
HP:0003167 | Carnosinuria | Very frequent (99-80%) |
Total: 6
HPO ID | Term | # of case reports |
---|---|---|
HP:0003167 | Carnosinuria | 2 |
HP:0000648 | Optic atrophy | 1 |
HP:0001250 | Seizures | 1 |
HP:0001271 | Polyneuropathy | 1 |
HP:0009830 | Peripheral neuropathy | 1 |
HP:0025356 | Psychomotor retardation | 1 |
Total: 0
Gene Symbol | Gene Name | Entrez Gene ID |
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