XFEPS
MCID: XFP001
MIFTS: 38

Xfe Progeroid Syndrome (XFEPS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Xfe Progeroid Syndrome

MalaCards integrated aliases for Xfe Progeroid Syndrome:

Name: Xfe Progeroid Syndrome 57 12 53 74 29 13 6 44 15 72
Xpf-Ercc1 Progeroid Syndrome 57 12 53 74
Xfeps 57 12 74
Progeroid Syndrome, Xfe 40

Characteristics:

OMIM:

57
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


HPO:

32
xfe progeroid syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060590
OMIM 57 610965
MedGen 42 C1970416
UMLS 72 C1970416

Summaries for Xfe Progeroid Syndrome

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Xfe Progeroid Syndrome, also known as xpf-ercc1 progeroid syndrome, is related to cerebro-oculo-facio-skeletal syndrome and fanconi anemia, complementation group q. An important gene associated with Xfe Progeroid Syndrome is ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit), and among its related pathways/superpathways are MicroRNAs in cancer and DNA Damage. Affiliated tissues include skin, liver and eye, and related phenotypes are hypertension and scoliosis

Disease Ontology : 12 A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.

More information 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:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 scoliosis 32 HP:0002650
3 prominent supraorbital ridges 32 HP:0000336
4 hearing impairment 32 HP:0000365
5 microcephaly 32 HP:0000252
6 visual impairment 32 HP:0000505
7 optic atrophy 32 HP:0000648
8 renal insufficiency 32 HP:0000083
9 proteinuria 32 HP:0000093
10 intellectual disability, mild 32 HP:0001256
11 ascites 32 HP:0001541
12 dry skin 32 HP:0000958
13 cachexia 32 HP:0004326
14 elevated hepatic transaminase 32 HP:0002910
15 ventriculomegaly 32 HP:0002119
16 deeply set eye 32 HP:0000490
17 narrow face 32 HP:0000275
18 prematurely aged appearance 32 HP:0007495
19 severe short stature 32 HP:0003510
20 convex nasal ridge 32 HP:0000444
21 high pitched voice 32 HP:0001620
22 poor coordination 32 HP:0002370
23 hypoplasia of dental enamel 32 HP:0006297
24 dermal atrophy 32 HP:0004334
25 lack of subcutaneous fatty tissue 32 HP:0007519

Symptoms via clinical synopsis from OMIM:

57
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

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, Liver, Eye

Publications for Xfe Progeroid Syndrome

Articles related to Xfe Progeroid Syndrome:

# Title Authors PMID Year
1
ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. 38 8 71
29105242 2018
2
A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis. 8 71
17183314 2006
3
Identification of microRNAs dysregulated in cellular senescence driven by endogenous genotoxic stress. 38
23852002 2013
4
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. 38
23623386 2013
5
NF-κB inhibition delays DNA damage-induced senescence and aging in mice. 38
22706308 2012
6
Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders. 38
22127259 2011
7
Premature aging-related peripheral neuropathy in a mouse model of progeria. 38
21596054 2011
8
Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 38
21612988 2011
9
Hyper telomere recombination accelerates replicative senescence and may promote premature aging. 38
20798040 2010
10
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 38
20221251 2010

Variations for Xfe Progeroid Syndrome

ClinVar genetic disease variations for Xfe Progeroid Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ERCC4 NM_005236.2(ERCC4): c.458G> C (p.Arg153Pro) single nucleotide variant Pathogenic rs121913050 16:14020487-14020487 16:13926630-13926630
2 ERCC4 NM_005236.2(ERCC4): c.388+1164_792+795del deletion Pathogenic
3 ERCC4 NM_005236.2(ERCC4): c.1765C> T (p.Arg589Trp) single nucleotide variant Pathogenic/Likely pathogenic rs147105770 16:14029554-14029554 16:13935697-13935697
4 ERCC4 NM_005236.2(ERCC4): c.2395C> T (p.Arg799Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs121913049 16:14041848-14041848 16:13947991-13947991
5 ERCC4 NM_005236.2(ERCC4): c.1563C> G (p.Ser521Arg) single nucleotide variant Uncertain significance rs41552412 16:14029352-14029352 16:13935495-13935495

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

74
# Symbol AA change Variation ID SNP ID
1 ERCC4 p.Arg153Pro VAR_034802 rs121913050

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 chromosome, telomeric region GO:0000781 9.37 WRN ERCC4
2 transcription factor TFIID complex GO:0005669 9.32 ERCC4 ERCC1
3 nucleotide-excision repair complex GO:0000109 9.16 ERCC4 ERCC1
4 micro-ribonucleoprotein complex GO:0035068 8.96 DICER1
5 ERCC4-ERCC1 complex GO:0070522 8.96 ERCC4 ERCC1
6 nucleotide-excision repair factor 1 complex GO:0000110 8.62 ERCC4 ERCC1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 gene silencing by miRNA GO:0035195 9.79 MIR497 MIR128-1 MIR10B
2 cellular response to DNA damage stimulus GO:0006974 9.78 WRN ERCC4 ERCC1
3 DNA repair GO:0006281 9.74 WRN ERCC4 ERCC1
4 DNA recombination GO:0006310 9.62 WRN ERCC1
5 double-strand break repair via homologous recombination GO:0000724 9.6 WRN ERCC4
6 transcription-coupled nucleotide-excision repair GO:0006283 9.59 ERCC4 ERCC1
7 double-strand break repair via nonhomologous end joining GO:0006303 9.58 ERCC4 ERCC1
8 double-strand break repair GO:0006302 9.58 WRN ERCC1
9 interstrand cross-link repair GO:0036297 9.56 ERCC4 ERCC1
10 telomere maintenance GO:0000723 9.55 WRN ERCC4
11 nucleotide-excision repair GO:0006289 9.54 ERCC4 ERCC1
12 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.54 WRN ERCC4 ERCC1
13 nucleotide-excision repair, DNA incision GO:0033683 9.52 ERCC4 ERCC1
14 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.51 ERCC4 ERCC1
15 global genome nucleotide-excision repair GO:0070911 9.49 ERCC4 ERCC1
16 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.48 ERCC4 ERCC1
17 multicellular organism aging GO:0010259 9.46 WRN ERCC1
18 UV protection GO:0009650 9.43 ERCC4 ERCC1
19 t-circle formation GO:0090656 9.4 WRN ERCC1
20 replicative cell aging GO:0001302 9.32 WRN ERCC1
21 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.26 ERCC4 ERCC1
22 negative regulation of telomere maintenance GO:0032205 9.16 ERCC4 ERCC1
23 telomeric DNA-containing double minutes formation GO:0061819 8.96 ERCC4 ERCC1
24 negative regulation of protection from non-homologous end joining at telomere GO:1905765 8.62 ERCC4 ERCC1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.54 MIR497 MIR128-1 MIR10B
2 single-stranded DNA binding GO:0003697 9.43 ERCC4 ERCC1
3 damaged DNA binding GO:0003684 9.4 ERCC4 ERCC1
4 endonuclease activity GO:0004519 9.33 ERCC4 ERCC1 DICER1
5 TFIID-class transcription factor complex binding GO:0001094 9.32 ERCC4 ERCC1
6 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.26 ERCC4 ERCC1
7 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 8.96 ERCC4 ERCC1
8 nuclease activity GO:0004518 8.92 WRN ERCC4 ERCC1 DICER1

Sources for Xfe Progeroid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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