Details of Disease

General Information of Disease (ID: DISVZ5JW)

Disease Name XFE progeroid syndrome
Synonyms XPF-ERCC1 progeroid syndrome; XFEPS; XFE progeroid syndrome
Definition
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.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISVZ5JW: XFE progeroid syndrome
Disease Identifiers
MONDO ID
MONDO_0012590
MESH ID
C567043
UMLS CUI
C1970416
OMIM ID
610965
MedGen ID
410064

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERCC1 OTNPYQHI Strong Biomarker [1]
ERCC4 OTFIOPG1 Strong Autosomal recessive [2]
HFM1 OTHV3EFE Definitive Biomarker [3]
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References

1 A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.Nature. 2006 Dec 21;444(7122):1038-43. doi: 10.1038/nature05456.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Computational image analysis of nuclear morphology associated with various nuclear-specific aging disorders.Nucleus. 2011 Nov-Dec;2(6):570-9. doi: 10.4161/nucl.2.6.17798. Epub 2011 Nov 1.