Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.



Input patient's signs and symptoms


Narrow down the case reports



Total: 110 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
7
(39.0%)		 27396511
 Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Kondo D, Noguchi A, Tamura H, Tsuchida S, Takahashi I, Kubota H, Yano T, Oyama C, Sawaishi Y, Moriwaki S, Takahashi T.
Tohoku J Exp Med. 2016;239(3):231-5.
Microcephaly
c|SUB|C|1846|G c|SUB|G|139|A p|SUB|G|47|R p|SUB|R|616|G
8-Hydroxy-2'-Deoxyguanosine Age of Onset Base Sequence Child Cockayne Syndrome DNA Mutational Analysis DNA Repair Deoxyguanosine Fatal Outcome Homo sapiens Infant Japan Kidney Male Nephrotic Syndrome Xeroderma Pigmentosum
7
(39.0%)		 26791926
 [Clinical and molecular analysis of two Chinese siblings with Cockayne syndrome].
Zhou Z, Liu L, Wu M, Liu H, Cai Y, Sheng H, Li X, Cheng J, Li D, Huang Y.
Zhonghua Er Ke Za Zhi. 2016;54(1):56-60.
Microcephaly
ERCC6
c|SUB|C|1357|T;RS#:121917902 c|SUB|T|1607|G;RS#:774175886 p|SUB|L|536|W;RS#:774175886 p|SUB|R|453|X;RS#:121917902
Asians Child Child, Preschool Cockayne Syndrome DNA Helicases DNA Mutational Analysis DNA Repair Enzymes Exons Heterozygote Homo sapiens Magnetic Resonance Imaging Male Mutation Poly-ADP-Ribose Binding Proteins Polymerase Chain Reaction Sibling
7
(39.0%)		 26749132
 Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
Wilson BT, Lochan A, Stark Z, Sutton RE.
Am J Med Genet A. 2016;170(3):773-6.
Microcephaly
ERCC6 ERCC8
rs1554794342 rs1554875536 rs185142838 rs202080674 rs376526037
Amino Acid Motifs Amino Acid Sequence Child, Preschool Cockayne Syndrome DNA Helicases DNA Repair Enzymes Facies Females Genetic Association Studies Homo sapiens Infant Male Missense Mutation Models, Molecular Molecular Sequence Data Phenotype Poly-ADP-Ribose Binding Proteins Protein Conformation Protein Interaction Domains and Motifs Sequence Alignment Sequence Analysis, DNA
7
(39.0%)		 19309286
 Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene.
Conte C, D'Apice MR, Botta A, Sangiuolo F, Novelli G.
Genet Test Mol Biomarkers. 2009;13(1):127-31.
Microcephaly
ERCC6 ERCC8
Base Sequence Child Cockayne Syndrome Codon, Nonsense DNA DNA Mutational Analysis DNA Primers DNA Repair Enzymes Exons Females Haplotypes Heterozygote Homo sapiens Infant, Newborn Male Mutation Polymerase Chain Reaction Pregnancy RNA Sequence Deletion
7
(39.0%)		 18628313
 Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, Dollfus H.
J Med Genet. 2008;45(9):564-71.
Microcephaly
ERCC6
rs121917904 rs121917905 rs1554794342 rs185142838 rs201392911 rs202080674 rs376526037 rs41556519
Amino Acid Sequence Arthrogryposis Cataract Cell Survival Cultured Cells DNA Helicases DNA Mutational Analysis DNA Repair DNA Repair Enzymes Facies Females Genetic Complementation Test Homo sapiens Infant, Newborn Male Microcephaly Molecular Sequence Data Poly-ADP-Ribose Binding Proteins Sequence Alignment Syndrome Western Blotting
7
(39.0%)		 18183039
 Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.
Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, Dollfus H.
Eur J Hum Genet. 2008;16(3):320-7.
Microcephaly
ERCC6
Brain Cockayne Syndrome DNA Helicases DNA Repair Enzymes Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Poly-ADP-Ribose Binding Proteins Polymerase Chain Reaction RNA, Messenger Sequence Deletion Short Tandem Repeat
7
(39.0%)		 17975563
 Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.
Goyal R, Thompson D, Timms C, Wilson LC, Russell-Eggitt I.
Eye (Lond). 2008;22(2):273-81.
Microcephaly
CSH2
Cataract Cataract Extraction Cockayne Syndrome Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Microcephaly Retrospective Studies Syndrome
7
(39.0%)		 17419442
 [A case of juvenile lung cancer with suspected progeroid syndrome and mental retardation].
Kawakami M, Kobayashi A, Bando M, Tsujita A, Yamasawa H, Ohno S, Sugiyama Y.
Nihon Kokyuki Gakkai Zasshi. 2007;45(3):272-6.
Microcephaly
Adenocarcinoma Adult Cockayne Syndrome Females Homo sapiens Intellectual Disability Lung Neoplasms Microcephaly X-Ray Computed Tomography
7
(39.0%)		 11890228
 Cockayne syndrome in a family.
Chien YH, Chou HC, Hwu WL.
Acta Paediatr Taiwan. 2002;43(1):46-9.
Microcephaly
Child Cockayne Syndrome Females Genetic Counseling Homo sapiens
7
(39.0%)		 9198297
 Cockayne syndrome with tetralogy of Fallot: a case report.
Choong CS, Liew KL, Huang YF, Chiu PC, Hsieh KS.
Zhonghua Yi Xue Za Zhi (Taipei). 1997;59(3):199-203.
Microcephaly
Child, Preschool Cockayne Syndrome Hepatomegaly Homo sapiens Male Pneumonia Splenomegaly Tetralogy of Fallot
        

Phenotype(s) retrieved from Orphanet

    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%)


Phenotype(s) retrieved from case reports

    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


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID