MCID: XFP001
MIFTS: 36

Xfe Progeroid Syndrome

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Xfe Progeroid Syndrome

MalaCards integrated aliases for Xfe Progeroid Syndrome:

Name: Xfe Progeroid Syndrome 57 12 53 75 29 13 6 44 15 73
Xpf-Ercc1 Progeroid Syndrome 57 12 53 75
Xfeps 57 12 75
Progeroid Syndrome, Xfe 40

Classifications:



Summaries for Xfe Progeroid Syndrome

Disease Ontology : 12 A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.

MalaCards based summary : Xfe Progeroid Syndrome, also known as xpf-ercc1 progeroid syndrome, is related to cerebro-oculo-facio-skeletal syndrome and xeroderma pigmentosum, complementation group g. An important gene associated with Xfe Progeroid Syndrome is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are DNA Double-Strand Break Repair and DNA Damage. Affiliated tissues include skin and eye, and related phenotypes are microcephaly and hearing impairment

UniProtKB/Swiss-Prot : 75 XFE progeroid syndrome: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.

Description from OMIM: 610965

Related Diseases for Xfe Progeroid Syndrome

Graphical network of the top 20 diseases related to Xfe Progeroid Syndrome:



Diseases related to Xfe Progeroid Syndrome

Symptoms & Phenotypes for Xfe Progeroid Syndrome

Clinical features from OMIM:

610965

Human phenotypes related to Xfe Progeroid Syndrome:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 hearing impairment 32 HP:0000365
3 deeply set eye 32 HP:0000490
4 visual impairment 32 HP:0000505
5 optic atrophy 32 HP:0000648
6 hypertension 32 HP:0000822
7 dry skin 32 HP:0000958
8 intellectual disability, mild 32 HP:0001256
9 ascites 32 HP:0001541
10 high pitched voice 32 HP:0001620
11 poor coordination 32 HP:0002370
12 elevated hepatic transaminases 32 HP:0002910
13 severe short stature 32 HP:0003510
14 cachexia 32 HP:0004326
15 hypoplasia of dental enamel 32 HP:0006297
16 prematurely aged appearance 32 HP:0007495
17 lack of subcutaneous fatty tissue 32 HP:0007519

GenomeRNAi Phenotypes related to Xfe Progeroid Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 ERCC1 ERCC4 WRN

MGI Mouse Phenotypes related to Xfe Progeroid Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.26 DICER1 ERCC1 ERCC4 WRN
2 neoplasm MP:0002006 8.8 DICER1 ERCC1 WRN

Drugs & Therapeutics for Xfe Progeroid Syndrome

Search Clinical Trials , NIH Clinical Center for Xfe Progeroid Syndrome

Cochrane evidence based reviews: xfe progeroid syndrome

Genetic Tests for Xfe Progeroid Syndrome

Genetic tests related to Xfe Progeroid Syndrome:

# Genetic test Affiliating Genes
1 Xfe Progeroid Syndrome 29 ERCC4

Anatomical Context for Xfe Progeroid Syndrome

MalaCards organs/tissues related to Xfe Progeroid Syndrome:

41
Skin, Eye

Publications for Xfe Progeroid Syndrome

Variations for Xfe Progeroid Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Xfe Progeroid Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 ERCC4 p.Arg153Pro VAR_034802 rs121913050

ClinVar genetic disease variations for Xfe Progeroid Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC4 NM_005236.2(ERCC4): c.458G> C (p.Arg153Pro) single nucleotide variant Pathogenic rs121913050 GRCh37 Chromosome 16, 14020487: 14020487
2 ERCC4 NM_005236.2(ERCC4): c.458G> C (p.Arg153Pro) single nucleotide variant Pathogenic rs121913050 GRCh38 Chromosome 16, 13926630: 13926630

Expression for Xfe Progeroid Syndrome

Search GEO for disease gene expression data for Xfe Progeroid Syndrome.

Pathways for Xfe Progeroid Syndrome

GO Terms for Xfe Progeroid Syndrome

Cellular components related to Xfe Progeroid Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.37 ERCC1 ERCC4
2 chromosome, telomeric region GO:0000781 9.32 ERCC4 WRN
3 transcription factor TFIID complex GO:0005669 9.26 ERCC1 ERCC4
4 nucleotide-excision repair complex GO:0000109 9.16 ERCC1 ERCC4
5 ERCC4-ERCC1 complex GO:0070522 8.96 ERCC1 ERCC4
6 nucleotide-excision repair factor 1 complex GO:0000110 8.62 ERCC1 ERCC4

Biological processes related to Xfe Progeroid Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.75 ERCC1 ERCC4 WRN
2 DNA repair GO:0006281 9.7 ERCC1 ERCC4 WRN
3 response to oxidative stress GO:0006979 9.62 ERCC1 WRN
4 DNA recombination GO:0006310 9.61 ERCC1 WRN
5 double-strand break repair via homologous recombination GO:0000724 9.61 ERCC4 WRN
6 transcription-coupled nucleotide-excision repair GO:0006283 9.6 ERCC1 ERCC4
7 double-strand break repair via nonhomologous end joining GO:0006303 9.59 ERCC1 ERCC4
8 double-strand break repair GO:0006302 9.58 ERCC1 WRN
9 interstrand cross-link repair GO:0036297 9.57 ERCC1 ERCC4
10 nucleotide-excision repair GO:0006289 9.56 ERCC1 ERCC4
11 telomere maintenance GO:0000723 9.55 ERCC4 WRN
12 nucleotide-excision repair, DNA incision GO:0033683 9.54 ERCC1 ERCC4
13 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.51 ERCC1 ERCC4
14 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.5 ERCC1 ERCC4 WRN
15 global genome nucleotide-excision repair GO:0070911 9.49 ERCC1 ERCC4
16 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.48 ERCC1 ERCC4
17 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.46 ERCC1 ERCC4
18 multicellular organism aging GO:0010259 9.43 ERCC1 WRN
19 UV protection GO:0009650 9.4 ERCC1 ERCC4
20 t-circle formation GO:0090656 9.37 ERCC1 WRN
21 replicative cell aging GO:0001302 9.26 ERCC1 WRN
22 negative regulation of telomere maintenance GO:0032205 9.16 ERCC1 ERCC4
23 telomeric DNA-containing double minutes formation GO:0061819 8.96 ERCC1 ERCC4
24 negative regulation of protection from non-homologous end joining at telomere GO:1905765 8.62 ERCC1 ERCC4

Molecular functions related to Xfe Progeroid Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 DICER1 ERCC1 ERCC4 WRN
2 hydrolase activity GO:0016787 9.67 DICER1 ERCC1 ERCC4 WRN
3 protein C-terminus binding GO:0008022 9.49 ERCC1 ERCC4
4 helicase activity GO:0004386 9.48 DICER1 WRN
5 single-stranded DNA binding GO:0003697 9.46 ERCC1 ERCC4
6 damaged DNA binding GO:0003684 9.4 ERCC1 ERCC4
7 endonuclease activity GO:0004519 9.33 DICER1 ERCC1 ERCC4
8 TFIID-class transcription factor binding GO:0001094 9.32 ERCC1 ERCC4
9 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.26 ERCC1 ERCC4
10 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 8.96 ERCC1 ERCC4
11 nuclease activity GO:0004518 8.92 DICER1 ERCC1 ERCC4 WRN

Sources for Xfe Progeroid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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