| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.8%) |
22980622 |
Cerebro-oculo-facio-skeletal syndrome. Rafique M, Zia S. J Coll Physicians Surg Pak. 2012;22(9):607-9. |
| Microcephaly Micrognathia | ||
| MSMB NEURL1 | ||
| Brain Cockayne Syndrome Differential Diagnosis Females Homo sapiens Infant Magnetic Resonance Imaging Microcephaly Micrognathism Microphthalmos Saudi Arabia | ||
| 1 (57.8%) |
15887300 |
Cockayne syndrome: the developing phenotype. Tan WH, Baris H, Robson CD, Kimonis VE. Am J Med Genet A. 2005;135(2):214-6. |
| Microcephaly Micrognathia | ||
| Adult Age of Onset Cockayne Syndrome Disease Progression Fatal Outcome Females Globus Pallidus Homo sapiens X-Ray Computed Tomography | ||
| 3 (50.5%) |
6890311 |
Identical male twins and brother with Cockayne syndrome. Houston CS, Zaleski WA, Rozdilsky B. Am J Med Genet. 1982;13(2):211-23. |
| Microcephaly Coxa valga Ivory epiphyses | ||
| Brain Child Cockayne Syndrome Differential Diagnosis Diseases in Twins Dwarfism Females Homo sapiens Male Pregnancy | ||
| 4 (40.9%) |
18637129 (2605190) |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Exp Dermatol. 2009;18(1):64-8. |
| Conjunctivitis Pterygium | ||
| ERCC2 | ||
| c|DEL|2009|G c|SUB|C|2047|T;RS#:41556519 p|FS|G|670|A|39 p|SUB|R|683|W;RS#:41556519 | ||
| DNA Mutational Analysis DNA Repair Fibroblasts Gene Deletion Homo sapiens Male Mutation Phenotype Skin Skin Neoplasms Sunlight Ultraviolet Rays Xeroderma Pigmentosum | ||
| 5 (40.2%) |
10631929 |
Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. Fryns JP, Dumoulin M, Hens G. Genet Couns. 1999;10(4):395-8. |
| Microcephaly Triangular face | ||
| EDA | ||
| Atrial Septal Defects Basal Ganglia Diseases Cataract Females Homo sapiens Infant, Newborn Progeria Syndrome | ||
| 6 (39.8%) |
23601806 (3702678) |
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Ophthalmology. 2013;120(7):1324-36. |
| Blepharitis Corneal scarring | ||
| Adult Child Child, Preschool Cockayne Syndrome DNA DNA Repair Females Follow-Up Studies Homo sapiens Infant Male Middle Aged Retrospective Studies Sunlight Trichothiodystrophy Syndromes Ultraviolet Rays Visual Acuity Xeroderma Pigmentosum Young Adult | ||
| 7 (39.0%) |
29944916 |
Two Cockayne Syndrome patients with a novel splice site mutation - clinical and metabolic analyses. Sanchez-Roman I, Lautrup S, Aamann MD, Neilan EG, Ostergaard JR, Stevnsner T. Mech Ageing Dev. 2018;175:7-16. |
| Microcephaly | ||
| ERCC6 | ||
| c|SUB|C|3259|T;RS#:144445150 c|SUB|T|2382+2|G p|SUB|R|1087|X;RS#:144445150 | ||
| Child, Preschool Cockayne Syndrome DNA Helicases DNA Mutational Analysis DNA Repair Enzymes Energy Metabolism Genetic Predisposition to Disease Homo sapiens Infant Magnetic Resonance Imaging Male Metabolomics Mutation Phenotype Poly-ADP-Ribose Binding Proteins RNA Splice Sites X-Ray Computed Tomography | ||
| 7 (39.0%) |
29422660 |
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. Schalk A, Greff G, Drouot N, Obringer C, Dollfus H, Laugel V, Chelly J, Calmels N. Eur J Hum Genet. 2018;26(4):527-536. |
| Microcephaly | ||
| ERCC6 ERCC8 | ||
| c|SUB|G|173+1119|C rs1043679457 | ||
| Child Cockayne Syndrome Cultured Cells DNA Repair Enzymes Homo sapiens Infant Introns Male Mutation RNA Splice Sites | ||
| 7 (39.0%) |
28848724 (5552663) |
A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome. Taghdiri M, Dastsooz H, Fardaei M, Mohammadi S, Farazi Fard MA, Faghihi MA. Front Pediatr. 2017;5:169. |
| Microcephaly | ||
| c|SUB|G|1122|C | ||
| 7 (39.0%) |
28255305 (5309409) |
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. Uribe-Bojanini E, Hernandez-Quiceno S, Cock-Rada AM. Case Rep Med. 2017;2017:7162737. |
| Microcephaly | ||
| c|SUB|A|547|T | ||
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 |
|---|