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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: Cockayne Syndrome (D003057)
Parent Node: Xeroderma Pigmentosum (D014983)
..Starting node ..XFE Progeroid Syndrome (C567043)
Child Nodes:
Sister Nodes:
..De Sanctis-Cacchione syndrome (C535992)
..Trichothiodystrophy, Type 1 (C564734)
..UV-SENSITIVE SYNDROME 1 (OMIM:600630)
..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
..Xeroderma Pigmentosum IX (C564731)
..Xeroderma Pigmentosum, Autosomal Dominant, Mild (C565989)
..Xeroderma Pigmentosum, Complementation Group B (C562590)
..Xeroderma Pigmentosum, Complementation Group C (C567886)
..Xeroderma Pigmentosum, Complementation Group D (C562591)
..Xeroderma Pigmentosum, Complementation Group E (C564732)
..Xeroderma Pigmentosum, Complementation Group F (C562592)
..Xeroderma Pigmentosum, Complementation Group G (C562593)
..Xeroderma pigmentosum, type 9 (C536765)
..Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
..Xeroderma pigmentosum, variant type (C536766)
..XFE Progeroid Syndrome (C567043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11833

Name:

XFE Progeroid Syndrome

Definition:

Alternative IDs:

OMIM:610965

ParentIDs:

MESH:D003057|MESH:D014983

TreeNumbers:

C04.834.867/C567043 |C05.116.099.343.250/C567043 |C10.574.500.362/C567043 |C16.131.077.250/C567043 |C16.131.831.936/C567043 |C16.320.240.562/C567043 |C16.320.400.200/C567043 |C16.320.850.970/C567043 |C17.800.600.925/C567043 |C17.800.621.936/C567043 |C17.800.804.93

Synonyms:

XPF-ERCC1 Progeroid Syndrome

Slim Mappings:

Reference:

MedGen: C567043
MeSH: C567043
OMIM: 610965;

Genes: ERCC4;

Phenotypes

1	HP:0001541	Ascites
2	HP:0004326	Cachexia
3	HP:0000490	Deeply set eye
4	HP:0000958	Dry skin
5	HP:0002910	Elevated hepatic transaminase
6	HP:0006297	Enamel hypoplasia
7	HP:0000365	Hearing impairment
8	HP:0001620	High pitched voice
9	HP:0000822	Hypertension
10	HP:0001256	Intellectual disability, mild
11	HP:0000252	Microcephaly
12	HP:0007519	obsolete Lack of subcutaneous fatty tissue
13	HP:0000648	Optic atrophy
14	HP:0002370	Poor coordination
15	HP:0007495	Prematurely aged appearance
16	HP:0003510	Severe short stature
17	HP:0000505	Visual impairment

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	Disease_hgmd
NM_005236.2(ERCC4):c.458G>C (p.Arg153Pro)	2072	ERCC4	Pathogenic	121913050	RCV000018049;	N	MedGen:C1970416,OMIM:610965	16	14020487	14020487	NM_005236.2:c.458G>C	NP_005227.1:p.Arg153Pro	NC_000016.9:g.14020487G>C	OMIM Allelic Variant:133520.0003	C1970416 610965 XFE progeroid syndrome