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Hello! Guest! Please Login or Register! Clinician Mode

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: Cockayne Syndrome (D003057)
..Starting node ..Cerebrooculofacioskeletal Syndrome 1 (C562434)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1963

Name:

Cerebrooculofacioskeletal Syndrome 1

Definition:

Alternative IDs:

OMIM:214150

ParentIDs:

MESH:D003057

TreeNumbers:

C05.116.099.343.250/C562434 |C10.574.500.362/C562434 |C16.131.077.250/C562434 |C16.320.240.562/C562434 |C16.320.400.200/C562434 |C18.452.284.250/C562434

Synonyms:

COFS |COFS1 |Cofs Syndrome |Pena-Shokeir Syndrome, Type II

Slim Mappings:

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

Reference:

MedGen: C562434
MeSH: C562434
OMIM: 214150;

Genes: ERCC6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000598	Abnormality of the ear
3	HP:0001274	Agenesis of corpus callosum
4	HP:0002804	Arthrogryposis multiplex congenita
5	HP:0000581	Blepharophimosis
6	HP:0012385	Camptodactyly
7	HP:0000518	Cataract
8	HP:0001321	Cerebellar hypoplasia
9	HP:0002673	Coxa valga
10	HP:0003819	Death in childhood
11	HP:0004681	Deep longitudinal plantar crease
12	HP:0000490	Deeply set eye
13	HP:0012448	Delayed myelination
14	HP:0002987	Elbow flexion contracture
15	HP:0001508	Failure to thrive
16	HP:0001290	Generalized hypotonia
17	HP:0002171	Gliosis
18	HP:0001007	Hirsutism
19	HP:0001252	Hypotonia
20	HP:0001249	Intellectual disability
21	HP:0002187	Intellectual disability, profound
22	HP:0009473	Joint contracture of the hand
23	HP:0006380	Knee flexion contracture
24	HP:0002751	Kyphoscoliosis
25	HP:0000343	Long philtrum
26	HP:0000252	Microcephaly
27	HP:0000347	Micrognathia
28	HP:0000568	Microphthalmia
29	HP:0000639	Nystagmus
30	HP:0000939	Osteoporosis
31	HP:0000426	Prominent nasal bridge
32	HP:0001838	Rocker bottom foot
33	HP:0008125	Second metatarsal posteriorly placed
34	HP:0001250	Seizure
35	HP:0000407	Sensorineural hearing impairment
36	HP:0000340	Sloping forehead
37	HP:0000233	Thin vermilion border
38	HP:0006610	Wide intermamillary distance

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_000400.3(ERCC2):c.1846C>T (p.Arg616Trp)	2068	ERCC2	Pathogenic	121913024	RCV000018278; RCV000018279; RCV000171547;	N	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003; MedGen:C0268138,OMIM:278730,SNOMED CT:68637004; MedGen:C1853102,OMIM:610756	19	45856060	45856060	NM_000400.3:c.1846C>T	NP_000391.1:p.Arg616Trp	NC_000019.9:g.45856060G>A	OMIM Allelic Variant:126340.0010	C0220722 214150 Cerebro-oculo-facio-skeletal syndrome; C1853102 610756 Cerebrooculofacioskeletal syndrome 2; C0268138 278730 Xeroderma pigmentosum, group D
NM_000124.3(ERCC6):c.3862C>T (p.Arg1288Ter)	2074	ERCC6	Pathogenic	185142838	RCV000024284;	N	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003	10	50669519	50669519	NM_000124.3:c.3862C>T	NP_000115.1:p.Arg1288Ter	NC_000010.10:g.50669519G>A	OMIM Allelic Variant:609413.0015	C0220722 214150 Cerebro-oculo-facio-skeletal syndrome
NM_000124.3(ERCC6):c.2960T>C (p.Leu987Pro)	2074	ERCC6	Pathogenic	121917905	RCV000001782;	N	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003	10	50679131	50679131	NM_000124.3:c.2960T>C	NP_000115.1:p.Leu987Pro	NC_000010.10:g.50679131A>G	OMIM Allelic Variant:609413.0013	C0220722 214150 Cerebro-oculo-facio-skeletal syndrome
NM_000124.3(ERCC6):c.2047C>T (p.Arg683Ter)	2074	ERCC6	Pathogenic	121917904	RCV000001781;	N	MedGen:C0220722,OMIM:214150,SNOMED CT:41283003	10	50690855	50690855	NM_000124.3:c.2047C>T	NP_000115.1:p.Arg683Ter	NC_000010.10:g.50690855G>A	OMIM Allelic Variant:609413.0012	C0220722 214150 Cerebro-oculo-facio-skeletal syndrome