XFEPS
MCID: XFP001
MIFTS: 39

Xfe Progeroid Syndrome (XFEPS)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Xfe Progeroid Syndrome

MalaCards integrated aliases for Xfe Progeroid Syndrome:

Name: Xfe Progeroid Syndrome 58 12 54 76 30 13 6 45 15 74
Xpf-Ercc1 Progeroid Syndrome 58 12 54 76
Xfeps 58 12 76
Progeroid Syndrome, Xfe 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of a 15-year-old boy of consanguineous afghan parents (last curated february 2019)
death at age 16


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 hypertension and prominent supraorbital ridges

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Xfe Progeroid Syndrome:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 prominent supraorbital ridges 33 HP:0000336
3 hearing impairment 33 HP:0000365
4 microcephaly 33 HP:0000252
5 visual impairment 33 HP:0000505
6 optic atrophy 33 HP:0000648
7 renal insufficiency 33 HP:0000083
8 proteinuria 33 HP:0000093
9 intellectual disability, mild 33 HP:0001256
10 ascites 33 HP:0001541
11 dry skin 33 HP:0000958
12 elevated hepatic transaminase 33 HP:0002910
13 ventriculomegaly 33 HP:0002119
14 cachexia 33 HP:0004326
15 deeply set eye 33 HP:0000490
16 narrow face 33 HP:0000275
17 prematurely aged appearance 33 HP:0007495
18 severe short stature 33 HP:0003510
19 high pitched voice 33 HP:0001620
20 poor coordination 33 HP:0002370
21 hypoplasia of dental enamel 33 HP:0006297
22 dermal atrophy 33 HP:0004334
23 lack of subcutaneous fatty tissue 33 HP:0007519

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
hypertension

Head And Neck Ears:
hearing impairment

Genitourinary Kidneys:
proteinuria
renal insufficiency, severe

Skin Nails Hair Skin:
dry skin
atrophic skin
no evidence of skin cancer

Neurologic Central Nervous System:
enlarged ventricles
hypotonic
learning disability, mild

Head And Neck Nose:
beaked nose

Growth Height:
short stature (-7 sd at age 15)

Head And Neck Teeth:
enamel dysplasia without caries

Neoplasia:
no evidence of skin cancer

Laboratory Abnormalities:
fibroblasts showed reduced levels of uv_induced dna damage repair (~5% normal)

Skeletal Spine:
scoliosis

Head And Neck Eyes:
optic atrophy
no cataracts
sunken orbits

Abdomen External Features:
ascites

Head And Neck Face:
narrow face
prominent brow
wizened appearance

Growth Weight:
normal birth weight
weight loss starting at age 12

Voice:
high-pitched voice

Head And Neck Head:
microcephaly (-5 sd)

Abdomen Liver:
abnormal serum liver enzymes, mild

Muscle Soft Tissue:
loss of subcutaneous fat

Clinical features from OMIM:

610965

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

27
# 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:

47
# 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 30 ERCC4

Anatomical Context for Xfe Progeroid Syndrome

MalaCards organs/tissues related to Xfe Progeroid Syndrome:

42
Skin, Eye

Publications for Xfe Progeroid Syndrome

Articles related to Xfe Progeroid Syndrome:

# Title Authors Year
1
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. ( 29105242 )
2018
2
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. ( 17183314 )
2006

Variations for Xfe Progeroid Syndrome

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

76
# 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.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh37 Chromosome 16, 14041848: 14041848
2 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Uncertain significance rs121913049 GRCh38 Chromosome 16, 13947991: 13947991
3 ERCC4 NM_005236.2(ERCC4): c.458G> C (p.Arg153Pro) single nucleotide variant Pathogenic rs121913050 GRCh37 Chromosome 16, 14020487: 14020487
4 ERCC4 NM_005236.2(ERCC4): c.458G> C (p.Arg153Pro) single nucleotide variant Pathogenic rs121913050 GRCh38 Chromosome 16, 13926630: 13926630
5 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic/Likely pathogenic rs147105770 GRCh37 Chromosome 16, 14029554: 14029554
6 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic/Likely pathogenic rs147105770 GRCh38 Chromosome 16, 13935697: 13935697
7 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh37 Chromosome 16, 14029352: 14029352
8 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 GRCh38 Chromosome 16, 13935495: 13935495
9 ERCC4 NM_005236.2(ERCC4): c.388+1164_792+795del deletion Pathogenic

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 9.69 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 GO:0006302 9.59 ERCC1 WRN
8 double-strand break repair via nonhomologous end joining GO:0006303 9.58 ERCC1 ERCC4
9 interstrand cross-link repair GO:0036297 9.57 ERCC1 ERCC4
10 telomere maintenance GO:0000723 9.56 ERCC4 WRN
11 nucleotide-excision repair GO:0006289 9.55 ERCC1 ERCC4
12 nucleotide-excision repair, DNA incision GO:0033683 9.54 ERCC1 ERCC4
13 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.54 ERCC1 ERCC4 WRN
14 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.52 ERCC1 ERCC4
15 global genome nucleotide-excision repair GO:0070911 9.49 ERCC1 ERCC4
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.48 ERCC1 ERCC4
17 multicellular organism aging GO:0010259 9.46 ERCC1 WRN
18 UV protection GO:0009650 9.43 ERCC1 ERCC4
19 t-circle formation GO:0090656 9.4 ERCC1 WRN
20 replicative cell aging GO:0001302 9.32 ERCC1 WRN
21 negative regulation of telomere maintenance GO:0032205 9.26 ERCC1 ERCC4
22 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.16 ERCC1 ERCC4
23 negative regulation of protection from non-homologous end joining at telomere GO:1905765 8.96 ERCC1 ERCC4
24 telomeric DNA-containing double minutes formation GO:0061819 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 complex 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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