| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 43 (4.0%) |
3019920 |
Peripheral neuropathy in Cockayne syndrome. Schenone A, Rolando S, Ferrari M, Romagnoli P, Tabaton M, Mancardi GL. Ital J Neurol Sci. 1986;7(4):447-52. |
| Demyelinating peripheral neuropathy | ||
| Child Cockayne Syndrome Dwarfism Females Homo sapiens Male Peripheral Nervous System Diseases | ||
| 43 (4.0%) |
2736126 |
[Cockayne syndrome: siblings with different ultraviolet sensitivity and early onset of manifestations]. Okamoto N, Otani K, Abe J, Futagi Y, Nishida M. No To Hattatsu. 1989;21(3):265-70. |
| Nystagmus | ||
| Child Child, Preschool Cockayne Syndrome Colony-Forming Units Assay Dwarfism Females Homo sapiens Male Radiation Tolerance Skin Ultraviolet Rays X-Ray Computed Tomography | ||
| 43 (4.0%) |
1928608 |
Comparison of cellular sensitivity to UV killing with neuropsychological impairment in Cockayne syndrome patients. Sugita K, Takanashi J, Suzuki N, Niimi H. Brain Dev. 1991;13(3):163-6. |
| Neurodegeneration | ||
| Cell Death Child Child, Preschool Cockayne Syndrome Cultured Cells Females Homo sapiens Intellectual Disability Neurons Psychomotor Performance Roentgen Rays Ultraviolet Rays | ||
| 43 (4.0%) |
1686897 |
[Clinical and cellular biologic diagnosis of Cockayne syndrome: a case report]. Wu CH, Ko YM, Chien CH, Yang RC, Hung KL, Hsiao TJ, Lee CI. J Formos Med Assoc. 1991;90(12):1246-51. |
| Eosinophilia | ||
| Cell Survival Child Cockayne Syndrome Fibroblasts Homo sapiens Male Ultraviolet Rays | ||
| 43 (4.0%) |
1590530 |
A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47XXX. Hayashi M, Hayakawa K, Suzuki F, Sugita K, Satoh J, Morimatsu Y. Brain Dev. 1992;14(1):63-7. |
| Cataract | ||
| Brain Cockayne Syndrome Females Homo sapiens Infant, Newborn Kidney Glomerulus Trisomy X Chromosome | ||
| 43 (4.0%) |
1372469 |
Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA. Am J Hum Genet. 1992;50(4):677-89. |
| Cutaneous photosensitivity | ||
| rs1554794342 rs185142838 rs202080674 rs376526037 | ||
| Child Cockayne Syndrome DNA DNA Repair DNA Replication Differential Diagnosis Females Homo sapiens Male Phenotype Photosensitivity Disorders RNA Xeroderma Pigmentosum | ||
| 43 (4.0%) |
1320347 |
Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study. Sasaki K, Tachi N, Shinoda M, Satoh N, Minami R, Ohnishi A. Brain Dev. 1992;14(2):114-7. |
| Demyelinating peripheral neuropathy | ||
| Child, Preschool Cockayne Syndrome Demyelinating Diseases Electron Microscopy Females Histocytochemistry Homo sapiens Nerve Fibers Peripheral Nervous System Diseases | ||
| 43 (4.0%) |
1308368 |
Cockayne syndrome: review of 140 cases. Nance MA, Berry SA. Am J Med Genet. 1992;42(1):68-84. |
| Cataract | ||
| Adult Child Child, Preschool Cockayne Syndrome DNA Repair Endocrine System Diseases Females Growth Disorders Homo sapiens Kidney Diseases Male Phenotype | ||
| 43 (4.0%) |
553450 |
Cockayne syndrome: report of two siblings and review of literature in Japan. Jin K, Handa T, Ishihara T, Yoshii F. Brain Dev. 1979;1(4):305-12. |
| Peripheral neuropathy | ||
| Biopsy Child Cockayne Syndrome Dwarfism Females Homo sapiens Japan Male Muscle Tissue X-Ray Computed Tomography | ||
| 43 (4.0%) |
514720 |
The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology. Higginbottom MC, Griswold WR, Jones KL, Vasquez MD, Mendoza SA, Wilson CB. Pediatrics. 1979;64(6):929-34. |
| Hypertension | ||
| REN | ||
| Child, Preschool Dwarfism Females Homo sapiens Kidney Diseases Kidney Glomerulus Male Syndrome |
Total: 62
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000366 | Abnormality of the nose | Very frequent (99-80%) |
| HP:0000400 | Macrotia | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000488 | Retinopathy | Very frequent (99-80%) |
| HP:0000490 | Deeply set eye | Very frequent (99-80%) |
| HP:0000670 | Carious teeth | Very frequent (99-80%) |
| HP:0000992 | Cutaneous photosensitivity | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001251 | Ataxia | Very frequent (99-80%) |
| HP:0001257 | Spasticity | Very frequent (99-80%) |
| HP:0001268 | Mental deterioration | Very frequent (99-80%) |
| HP:0001347 | Hyperreflexia | Very frequent (99-80%) |
| HP:0001531 | Failure to thrive in infancy | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004408 | Abnormality of the sense of smell | Very frequent (99-80%) |
| HP:0007495 | Prematurely aged appearance | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0009830 | Peripheral neuropathy | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0000077 | Abnormality of the kidney | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000486 | Strabismus | Frequent (79-30%) |
| HP:0000532 | Abnormal chorioretinal morphology | Frequent (79-30%) |
| HP:0000762 | Decreased nerve conduction velocity | Frequent (79-30%) |
| HP:0000822 | Hypertension | Frequent (79-30%) |
| HP:0000987 | Atypical scarring of skin | Frequent (79-30%) |
| HP:0001015 | Prominent superficial veins | Frequent (79-30%) |
| HP:0001176 | Large hands | Frequent (79-30%) |
| HP:0001337 | Tremor | Frequent (79-30%) |
| HP:0001387 | Joint stiffness | Frequent (79-30%) |
| HP:0001760 | Abnormality of the foot | Frequent (79-30%) |
| HP:0002120 | Cerebral cortical atrophy | Frequent (79-30%) |
| HP:0002213 | Fine hair | Frequent (79-30%) |
| HP:0002353 | EEG abnormality | Frequent (79-30%) |
| HP:0002514 | Cerebral calcification | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0007440 | Generalized hyperpigmentation | Frequent (79-30%) |
| HP:0008065 | Aplasia/Hypoplasia of the skin | Frequent (79-30%) |
| HP:0008070 | Sparse hair | Frequent (79-30%) |
| HP:0010783 | Erythema | Frequent (79-30%) |
| HP:0010807 | Open bite | Frequent (79-30%) |
| HP:0100022 | Abnormality of movement | Frequent (79-30%) |
| HP:0000028 | Cryptorchidism | Occasional (29-5%) |
| HP:0000100 | Nephrotic syndrome | Occasional (29-5%) |
| HP:0000174 | Abnormal palate morphology | Occasional (29-5%) |
| HP:0000202 | Oral cleft | Occasional (29-5%) |
| HP:0000518 | Cataract | Occasional (29-5%) |
| HP:0000568 | Microphthalmia | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000926 | Platyspondyly | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001595 | Abnormal hair morphology | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Occasional (29-5%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Occasional (29-5%) |
| HP:0007703 | Abnormality of retinal pigmentation | Occasional (29-5%) |
| HP:0012378 | Fatigue | Occasional (29-5%) |
| HP:0100585 | Telangiectasia of the skin | Occasional (29-5%) |
| HP:0100783 | Breast aplasia | Occasional (29-5%) |
| HP:0100820 | Glomerulopathy | Occasional (29-5%) |
Total: 33
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000252 | Microcephaly | 9 |
| HP:0000518 | Cataract | 7 |
| HP:0000580 | Pigmentary retinopathy | 5 |
| HP:0000992 | Cutaneous photosensitivity | 4 |
| HP:0009830 | Peripheral neuropathy | 3 |
| HP:0000488 | Retinopathy | 2 |
| HP:0001249 | Intellectual disability | 2 |
| HP:0001508 | Failure to thrive | 2 |
| HP:0002180 | Neurodegeneration | 2 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000369 | Low-set ears | 1 |
| HP:0000726 | Dementia | 1 |
| HP:0000822 | Hypertension | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001257 | Spasticity | 1 |
| HP:0001272 | Cerebellar atrophy | 1 |
| HP:0001337 | Tremor | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001873 | Thrombocytopenia | 1 |
| HP:0001944 | Dehydration | 1 |
| HP:0002090 | Pneumonia | 1 |
| HP:0002299 | Brittle hair | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0003254 | Abnormality of DNA repair | 1 |
| HP:0003474 | Sensory impairment | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0004326 | Cachexia | 1 |
| HP:0007108 | Demyelinating peripheral neuropathy | 1 |
| HP:0008283 | Fasting hyperinsulinemia | 1 |
| HP:0011968 | Feeding difficulties | 1 |
| HP:0012804 | Corneal ulceration | 1 |
| HP:0045055 | Tiger tail banding | 1 |
| HP:0100021 | Cerebral palsy | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|