| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 7 (39.0%) |
8823375 |
DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells. Moriwaki S, Stefanini M, Lehmann AR, Hoeijmakers JH, Robbins JH, Rapin I, Botta E, Tanganelli B, Vermeulen W, Broughton BC, Kraemer KH. J Invest Dermatol. 1996;107(4):647-53. |
| Microcephaly | ||
| ERCC5 | ||
| c|SUB|C||A | ||
| Cell Survival Child Cockayne Syndrome DNA DNA Repair Fibroblasts Genetic Complementation Test Homo sapiens Male Plasmids RNA Ultraviolet Rays Xeroderma Pigmentosum | ||
| 7 (39.0%) |
8068222 (3053904) |
Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. Park SK, Chang SH, Cho SB, Baek HS, Lee DY. J Korean Med Sci. 1994;9(1):74-7. |
| Microcephaly | ||
| GH1 | ||
| C-Peptide Cockayne Syndrome Growth Disorders Growth Hormone Homo sapiens Hyperinsulinism Insulin Male Optic Atrophy Retinal Degeneration | ||
| 7 (39.0%) |
4031953 |
Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings. Leech RW, Brumback RA, Miller RH, Otsuka F, Tarone RE, Robbins JH. J Neuropathol Exp Neurol. 1985;44(5):507-19. |
| Microcephaly | ||
| Brain Cell Survival Child Cockayne Syndrome Culture Techniques Dwarfism Females Homo sapiens Lymphocyte Male Ultraviolet Rays | ||
| 7 (39.0%) |
3128691 |
Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y. J Inherit Metab Dis. 1988;11(1):88-102. |
| Microcephaly | ||
| Brain Child, Preschool Cockayne Syndrome Cultured Cells DNA Repair DNA Replication Dwarfism Fibroblasts Homo sapiens Magnetic Resonance Imaging Male Ultraviolet Rays | ||
| 7 (39.0%) |
2554729 |
CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome. Talwar D, Smith SA. Am J Med Genet. 1989;34(2):194-8. |
| Microcephaly | ||
| Cockayne Syndrome Demyelinating Diseases Dwarfism Homo sapiens Infant Male Peripheral Nervous System Diseases | ||
| 7 (39.0%) |
1659795 |
[Peripheral neuropathy as a presenting form of Cockayne syndrome]. Campistol Plana J, Riverola de Veciana A, Poo Arguelles P, Colomer Oferil J, Moreno Hernandez J. Arch Neurobiol (Madr). 1991;54(4):141-5. |
| Microcephaly | ||
| Brain Diseases, Metabolic Calcinosis Cerebrospinal Fluid Proteins Cockayne Syndrome Demyelinating Diseases Differential Diagnosis Homo sapiens Infant Male Peripheral Nervous System Diseases | ||
| 7 (39.0%) |
400082 |
Cockayne syndrome: unusual neuropathological findings and review of the literature. Soffer D, Grotsky HW, Rapin I, Suzuki K. Ann Neurol. 1979;6(4):340-8. |
| Microcephaly | ||
| Brain Diseases Calcinosis Child Cockayne Syndrome Deafness Dwarfism Females Homo sapiens Male Microcephaly Neuromuscular Diseases Retinal Diseases | ||
| 28 (32.2%) |
3703607 |
Distinctive skeletal dysplasia in Cockayne syndrome. Cirillo Silengo M, Franceschini P, Bianco R, Biagioli M, Pastorin L, Vista N, Baldassar A, Benso L. Pediatr Radiol. 1986;16(3):264-6. |
| Ivory epiphyses | ||
| Bone Diseases, Developmental Child, Preschool Cockayne Syndrome Dwarfism Females Homo sapiens | ||
| 29 (27.8%) |
15951889 |
Cockayne syndrome in 2 siblings. Hamamy HA, Daas HA, Shegem NS, Al-Hadidy AM, Ajlouni K. Saudi Med J. 2005;26(5):875-9. |
| Hearing impairment Carious teeth | ||
| GH1 IGF1 | ||
| Child Cockayne Syndrome Females Homo sapiens Intellectual Disability Jordan Male Sibling Syndrome | ||
| 30 (21.2%) |
8818951 |
Xeroderma pigmentosum--Cockayne syndrome complex: a further case. Hamel BC, Raams A, Schuitema-Dijkstra AR, Simons P, van der Burgt I, Jaspers NG, Kleijer WJ. J Med Genet. 1996;33(7):607-10. |
| Microphthalmia Flexion contracture | ||
| ERCC5 | ||
| Cell Survival Cockayne Syndrome DNA DNA Repair Genetic Complementation Test Homo sapiens Infant, Newborn Male Netherlands RNA Ultraviolet Rays Xeroderma Pigmentosum |
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 |
|---|