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FILS
MCID: FCL084
MIFTS: 34
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Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (FILS)
Categories:
Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
MalaCards integrated aliases for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:
Characteristics:Orphanet epidemiological data:58
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth one french family has been reported (last curated march 2013) HPO:31
facial dysmorphism, immunodeficiency, livedo, and short stature:
Inheritance autosomal recessive inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Blood diseases Skin diseases Immune diseases
ICD10:
33
Orphanet: 58
Developmental anomalies during embryogenesis
Rare immunological diseases |
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UniProtKB/Swiss-Prot :
73
Facial dysmorphism, immunodeficiency, livedo, and short stature: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood.
MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculitis, and has symptoms including pruritus, flushing and icterus. An important gene associated with Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature is POLE (DNA Polymerase Epsilon, Catalytic Subunit), and among its related pathways/superpathways are DNA replication and Base excision repair. Affiliated tissues include skin, bone and t cells, and related phenotypes are bone pain and recurrent respiratory infections OMIM : 56 FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012). (615139) KEGG : 36 FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon. Wikipedia : 74 Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that... more... |
Human phenotypes related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:31 (show all 9)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:615139UMLS symptoms related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:pruritus, flushing, icterus, skin manifestations |
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Cochrane evidence based reviews: livedo reticularis |
MalaCards organs/tissues related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:40
Skin,
Bone,
T Cells,
B Cells
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Articles related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:
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Genes related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:6 (show top 50) (show all 54)
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Search
GEO
for disease gene expression data for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature.
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