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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: DNA Repair-Deficiency Disorders (D049914)
Parent Node: Dwarfism (D004392)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
..Starting node ..Cockayne Syndrome (D003057)
Child Nodes:
........Cerebrooculofacioskeletal Syndrome 1 (C562434)
........Cerebrooculofacioskeletal Syndrome 3 (C565035)
........FORSYTHE-WAKELING SYNDROME (OMIM:613606)
........Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
........Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
........XFE Progeroid Syndrome (C567043)
Sister Nodes:
..Alexander Disease (D038261) 1
..Amyloid Neuropathies, Familial (D028227) 1
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Canavan Disease (D017825)
..Cerebrocortical Degeneration of Infancy (C565863)
..Cockayne Syndrome (D003057) 6
..Dystonia Musculorum Deformans (D004422) 7
..Familial encephalopathy with neuroserpin inclusion bodies (C536841)
..Fatty Acid Hydroxylase-Associated Neurodegeneration (C580102)
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Hepatolenticular Degeneration (D006527) 2
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Huntington Disease (D006816) 3
..Huntington Disease-Like 2 (C564708)
..Huntington Disease-Like Syndrome (C580174)
..Lafora Disease (D020192)
..Lesch-Nyhan Syndrome (D007926) 1
..Lipodystrophy with Congenital Cataracts and Neurodegeneration (C564669)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation, X-Linked (D038901) 134
..Microphthalmia, Syndromic 10 (C566985)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Myotonia Congenita (D009224) 5
..Myotonic Dystrophy (D009223) 1
..Navajo neurohepatopathy (C538344) 1
..Neuroacanthocytosis (D054546) 1
..Neurofibromatoses (D017253) 13
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic Atrophies, Hereditary (D015418) 30
..Opticocochleodentate Degeneration (C563002)
..Pantothenate Kinase-Associated Neurodegeneration (D006211) 1
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain (C564894)
..Rett Syndrome (D015518) 5
..Scapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..Spinal Muscular Atrophies of Childhood (D014897) 7
..Spinocerebellar Degenerations (D013132) 85
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Tourette Syndrome (D005879) 2
..Tuberous Sclerosis (D014402) 4
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2455

Name:

Cockayne Syndrome

Definition:

A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

Alternative IDs:

OMIM:133540|OMIM:216400

ParentIDs:

MESH:D000015|MESH:D004392|MESH:D020271|MESH:D049914

TreeNumbers:

C05.116.099.343.250 |C10.574.500.362 |C16.131.077.250 |C16.320.240.562 |C16.320.400.200 |C18.452.284.250

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: D003057
MeSH: D003057
OMIM: 133540;

Genes: ERCC6; ERCC8;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006958	Abnormal auditory evoked potentials
3	HP:0001595	Abnormal hair morphology
4	HP:0003130	Abnormal peripheral myelination
5	HP:0001000	Abnormality of skin pigmentation
6	HP:0000377	Abnormality of the pinna
7	HP:0000649	Abnormality of visual evoked potentials
8	HP:0000970	Anhidrosis
9	HP:0011675	Arrhythmia
10	HP:0001251	Ataxia
11	HP:0000987	Atypical scarring of skin
12	HP:0002135	Basal ganglia calcification
13	HP:0000670	Carious teeth
14	HP:0000518	Cataract
15	HP:0007352	Cerebellar calcifications
16	HP:0002059	Cerebral atrophy
17	HP:0000028	Cryptorchidism
18	HP:0000992	Cutaneous photosensitivity
19	HP:0000633	Decreased lacrimation
20	HP:0000762	Decreased nerve conduction velocity
21	HP:0000680	Delayed eruption of primary teeth
22	HP:0000689	Dental malocclusion
23	HP:0004334	Dermal atrophy
24	HP:0011359	Dry hair
25	HP:0000958	Dry skin
26	HP:0002240	Hepatomegaly
27	HP:0000540	Hypermetropia
28	HP:0000822	Hypertension
29	HP:0000685	Hypoplasia of teeth
30	HP:0007676	Hypoplasia of the iris
31	HP:0002866	Hypoplastic iliac wing
32	HP:0008839	Hypoplastic pelvis
33	HP:0003224	Increased cellular sensitivity to UV light
34	HP:0001249	Intellectual disability
35	HP:0001511	Intrauterine growth retardation
36	HP:0010234	Ivory epiphyses of the phalanges of the hand
37	HP:0002808	Kyphosis
38	HP:0001376	Limitation of joint mobility
39	HP:0000292	Loss of facial adipose tissue
40	HP:0000303	Mandibular prognathia
41	HP:0000252	Microcephaly
42	HP:0000482	Microcornea
43	HP:0000054	Micropenis
44	HP:0000568	Microphthalmia
45	HP:0001324	Muscle weakness
46	HP:0002343	Normal pressure hydrocephalus
47	HP:0000639	Nystagmus
48	HP:0007759	Opacification of the corneal stroma
49	HP:0000648	Optic atrophy
50	HP:0000939	Osteoporosis
51	HP:0002545	Patchy demyelination of subcortical white matter
52	HP:0003469	Peripheral dysmyelination
53	HP:0000580	Pigmentary retinopathy
54	HP:0001271	Polyneuropathy
55	HP:0008897	Postnatal growth retardation
56	HP:0005328	Progeroid facial appearance
57	HP:0000093	Proteinuria
58	HP:0003758	Reduced subcutaneous adipose tissue
59	HP:0000083	Renal insufficiency
60	HP:0001250	Seizure
61	HP:0000407	Sensorineural hearing impairment
62	HP:0001525	Severe failure to thrive
63	HP:0003510	Severe short stature
64	HP:0000417	Slender nose
65	HP:0001518	Small for gestational age
66	HP:0008070	Sparse hair
67	HP:0001744	Splenomegaly
68	HP:0003278	Square pelvis bone
69	HP:0000486	Strabismus
70	HP:0007346	Subcortical white matter calcifications
71	HP:0002684	Thickened calvaria
72	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000124.3(ERCC6):c.1357C>T (p.Arg453Ter)	-1	-	Pathogenic	121917902	RCV000001772;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50732119	50732119	NM_000124.3:c.1357C>T	NP_000115.1:p.Arg453Ter	NC_000010.10:g.50732119G>A	OMIM Allelic Variant:609413.0004	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1280dupT (p.Ser429Lysfs)	-1	-	Pathogenic	786205166	RCV000170364;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50732196	50732196	NM_000124.3:c.1280dupT	NP_000115.1:p.Ser429Lysfs	NC_000010.10:g.50732196dupA	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.972dupA (p.Glu325Argfs)	-1	-	Pathogenic	387906262	RCV000001773;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50732504	50732504	NM_000124.3:c.972dupA	NP_000115.1:p.Glu325Argfs	NC_000010.10:g.50732504dupT	OMIM Allelic Variant:609413.0005	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.850_851insT (p.Glu284Valfs)	-1	-	Pathogenic	797045562	RCV000194098;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50732625	50732626	NM_000124.3:c.850_851insT	NP_000115.1:p.Glu284Valfs	NC_000010.10:g.50732625_50732626insA	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.543+4delA	-1	-	Pathogenic	527236039	RCV000132720;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50738762	50738762	NM_000124.3:c.543+4delA		NC_000010.10:g.50738762delT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter)	-1	-	Likely pathogenic	751838040	RCV000193828;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50738843	50738843	NM_000124.3:c.466C>T	NP_000115.1:p.Gln156Ter	NC_000010.10:g.50738843G>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.4007delA (p.Asn1336Ilefs)	2074	ERCC6	Pathogenic	786205175	RCV000170391;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50668474	50668474	NM_000124.3:c.4007delA	NP_000115.1:p.Asn1336Ilefs	NC_000010.10:g.50668474delT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3952_3953delAG (p.Arg1318Glyfs)	2074	ERCC6	Likely pathogenic	765825423	RCV000170390;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50669428	50669429	NM_000124.3:c.3952_3953delAG	NP_000115.1:p.Arg1318Glyfs	NC_000010.10:g.50669428_50669429delCT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3904C>T (p.Gln1302Ter)	2074	ERCC6	Pathogenic	786205174	RCV000170389;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50669477	50669477	NM_000124.3:c.3904C>T	NP_000115.1:p.Gln1302Ter	NC_000010.10:g.50669477G>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3612_3613insT (p.Lys1205Terfs)	2074	ERCC6	Likely pathogenic	786205173	RCV000170388;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50678393	50678394	NM_000124.3:c.3612_3613insT	NP_000115.1:p.Lys1205Terfs	NC_000010.10:g.50678393_50678394insA	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203Argfs)	2074	ERCC6	Pathogenic	786205172	RCV000170387;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50678398	50678399	NM_000124.3:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA	NP_000115.1:p.Lys1203Argfs	NC_000010.10:g.50678398_50678399insTAAGGTGGACCTTAAGCAGCCAGCCC	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs)	2074	ERCC6	Pathogenic	786205171	RCV000170386;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50678470	50678470	NM_000124.3:c.3536delA	NP_000115.1:p.Tyr1179Leufs	NC_000010.10:g.50678470delT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3412dupA (p.Thr1138Asnfs)	2074	ERCC6	Pathogenic	786205170	RCV000170385;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50678594	50678594	NM_000124.3:c.3412dupA	NP_000115.1:p.Thr1138Asnfs	NC_000010.10:g.50678594dupT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg)	2074	ERCC6	Pathogenic;Uncertain significance	4253208	RCV000001776; RCV000170384;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322; MedGen:CN169374	10	50678722	50678722	NM_000124.3:c.3284C>G	NP_000115.1:p.Pro1095Arg	NC_000010.10:g.50678722G>C	OMIM Allelic Variant:609413.0008	C0751038 133540 Cockayne syndrome B; CN169374 not specified
NM_000124.3(ERCC6):c.2830-2A>G	2074	ERCC6	Pathogenic	373227647	RCV000170381;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50680518	50680518	NM_000124.3:c.2830-2A>G		NC_000010.10:g.50680518T>C	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.2599-26A>G	2074	ERCC6	Pathogenic	4253196	RCV000170380;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50681659	50681659	NM_000124.3:c.2599-26A>G		NC_000010.10:g.50681659T>C	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg)	2074	ERCC6	Pathogenic	368728467	RCV000195010;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50682120	50682120	NM_000124.3:c.2551T>C	NP_000115.1:p.Trp851Arg	NC_000010.10:g.50682120A>G	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.2203C>T (p.Arg735Ter)	2074	ERCC6	Pathogenic	121917901	RCV000001769; RCV000001770;	N	MedGen:C0265201,OMIM:278800,SNOMED CT:414673004; MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50686483	50686483	NM_000124.3:c.2203C>T	NP_000115.1:p.Arg735Ter	NC_000010.10:g.50686483G>A	OMIM Allelic Variant:609413.0002	C0751038 133540 Cockayne syndrome B; C0265201 278800 DE SANCTIS-CACCHIONE SYNDROME
NM_000124.3(ERCC6):c.2167C>T (p.Gln723Ter)	2074	ERCC6	Pathogenic	151242354	RCV000170378;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50690735	50690735	NM_000124.3:c.2167C>T	NP_000115.1:p.Gln723Ter	NC_000010.10:g.50690735G>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.2096dupC (p.Leu700Valfs)	2074	ERCC6	Likely pathogenic	774791374	RCV000170377;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50690806	50690806	NM_000124.3:c.2096dupC	NP_000115.1:p.Leu700Valfs	NC_000010.10:g.50690806dupG	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.2008C>T (p.Arg670Trp)	2074	ERCC6	Pathogenic	202080674	RCV000170376;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50690894	50690894	NM_000124.3:c.2008C>T	NP_000115.1:p.Arg670Trp	NC_000010.10:g.50690894G>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1999delA (p.Thr667Profs)	2074	ERCC6	Pathogenic	786205169	RCV000170375;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50690903	50690903	NM_000124.3:c.1999delA	NP_000115.1:p.Thr667Profs	NC_000010.10:g.50690903delT	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1954C>T (p.Arg652Ter)	2074	ERCC6	Likely pathogenic	767247987	RCV000170373;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50691430	50691430	NM_000124.3:c.1954C>T	NP_000115.1:p.Arg652Ter	NC_000010.10:g.50691430G>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1850dupG (p.Cys617Trpfs)	2074	ERCC6	Pathogenic	786205167	RCV000170366;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50691534	50691534	NM_000124.3:c.1850dupG	NP_000115.1:p.Cys617Trpfs	NC_000010.10:g.50691534dupC	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1550G>A (p.Trp517Ter)	2074	ERCC6	Pathogenic	121917900	RCV000001768;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50708719	50708719	NM_000124.3:c.1550G>A	NP_000115.1:p.Trp517Ter	NC_000010.10:g.50708719C>T	OMIM Allelic Variant:609413.0001	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1526+1G>T	2074	ERCC6	Pathogenic	371739894	RCV000170365;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50713929	50713929	NM_000124.3:c.1526+1G>T		NC_000010.10:g.50713929C>A	-	C0751038 133540 Cockayne syndrome B
NM_000124.3(ERCC6):c.1518delG (p.Lys506Asnfs)	2074	ERCC6	Likely pathogenic	786205168	RCV000170368;	N	MedGen:C0751038,OMIM:133540,ORPHA:90322	10	50713938	50713938	NM_000124.3:c.1518delG	NP_000115.1:p.Lys506Asnfs	NC_000010.10:g.50713938delC	-	C0751038 133540 Cockayne syndrome B