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FILS
MCID: FCL084
MIFTS: 41
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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:Inheritance:
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:
Autosomal recessive 57
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome:
Autosomal recessive 58
Prevelance:
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome:
Infancy,Neonatal 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
onset at birth one french family has been reported (last curated march 2013) Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Blood diseases Skin diseases Immune diseases
ICD10:
32
Orphanet: 58
Developmental anomalies during embryogenesis
Rare immunological diseases |
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Orphanet: 58 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. 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 flushing, icterus and pruritus. An important gene associated with Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include skin, b cells and t cells, and related phenotypes are short stature and immunodeficiency UniProtKB/Swiss-Prot: 73 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. OMIM®: 57 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) (Updated 24-Oct-2022) Wikipedia: 75 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:30 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:615139 (Updated 24-Oct-2022)UMLS symptoms related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:flushing; icterus; pruritus; skin manifestations |
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Organs/tissues related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:
MalaCards :
Skin,
B Cells,
T Cells,
Bone,
Brain,
Heart,
Breast
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Articles related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:(show top 50) (show all 1142)
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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:5 (show top 50) (show all 91)
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Search
GEO
for disease gene expression data for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature.
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