XFE PROGEROID SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: XPF-ERCC1 PROGEROID SYNDROME
Number of Symptoms 17
OrphanetNr:
OMIM Id: 610965
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000490) Deeply set eye 131 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0000648) Optic atrophy 238 / 7739
6
(HPO:0000365) Hearing impairment 539 / 7739
7
(HPO:0001256) Intellectual disability, mild 141 / 7739
8
(HPO:0002370) Poor coordination 15 / 7739
9
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
10
(HPO:0001541) Ascites 94 / 7739
11
(HPO:0003510) Severe short stature 90 / 7739
12
(HPO:0004326) Cachexia 71 / 7739
13
(HPO:0007519) Lack of subcutaneous fatty tissue 2 / 7739
14
(HPO:0000958) Dry skin 152 / 7739
15
(HPO:0007495) Prematurely aged appearance 44 / 7739
16
(HPO:0000822) Hypertension 224 / 7739
17
(HPO:0001620) High pitched voice 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Niedernhofer et al. (2006) reported a 15-year-old Afghan male who presented with dwarfism, cachexia, and microcephaly. The parents were consanguineous. The child was born at normal weight and achieved early developmental milestones. He was markedly sun-sensitive from birth. ...
Molecular genetics OMIM In the patient with a progeroid syndrome described by Niedernhofer et al. (2006), cDNA from XPF-ERCC1 (XFE) fibroblasts showed a G-to-C transversion at position 458 in the ERCC4 gene, resulting in a nonconservative substitution of proline for a ...