MCID: FCL084
MIFTS: 29

Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Categories: Genetic diseases, Fetal diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

MalaCards integrated aliases for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

Name: Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 57 75 29 6 73
Fils Syndrome 57 59 75 13
Livedo Reticularis 44 73
Fils 57 75
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome 59
Cutis Marmorata 73

Characteristics:

Orphanet epidemiological data:

59
facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
one french family has been reported (last curated march 2013)


HPO:

32
facial dysmorphism, immunodeficiency, livedo, and short stature:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

UniProtKB/Swiss-Prot : 75 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 vasculopathy, 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, bone and t cells, and related phenotypes are malar flattening and recurrent respiratory infections

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)

Wikipedia : 76 Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that... more...

Related Diseases for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Diseases related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 12.4
2 livedoid vasculopathy 11.9
3 cholesterol embolism 11.5
4 antiphospholipid syndrome 11.5
5 aortic aneurysm, familial thoracic 6 11.4
6 cutis marmorata telangiectatica congenita 11.1
7 coenzyme q10 deficiency, primary, 2 11.1
8 adenosine deaminase 2 deficiency 11.1
9 primary hyperoxaluria 10.3
10 cerebritis 10.2
11 lymphoma 10.2
12 essential thrombocythemia 10.1
13 cryoglobulinemia 10.1
14 ischemia 10.1
15 erythromelalgia 10.1
16 follicular lymphoma 10.1
17 thalassemia 10.0
18 multiple sclerosis 9.9
19 systemic lupus erythematosus 9.9
20 pheochromocytoma 9.9
21 thrombophilia due to thrombin defect 9.9
22 anemia, autoimmune hemolytic 9.9
23 cardiac valvular defect, developmental 9.9
24 myeloma, multiple 9.9
25 stroke, ischemic 9.9
26 autoimmune lymphoproliferative syndrome 9.9
27 reflex sympathetic dystrophy 9.9
28 heart valve disease 9.9
29 hemolytic anemia 9.9
30 primary cutaneous amyloidosis 9.9
31 crest syndrome 9.9
32 lymphoproliferative syndrome 9.9
33 thrombosis 9.9
34 dermatomyositis 9.9
35 von willebrand's disease 9.9
36 hemolytic-uremic syndrome 9.9
37 transient global amnesia 9.9
38 dementia 9.9
39 branch retinal artery occlusion 9.9
40 algoneurodystrophy 9.9
41 congenital hypogammaglobulinemia 9.9
42 adult dermatomyositis 9.9
43 melanoma 9.9
44 purpura 9.9
45 palmoplantar keratosis 9.9
46 retinitis 9.9
47 protein c deficiency 9.9
48 calciphylaxis 9.9
49 peripheral nervous system disease 9.9
50 pellagra 9.9

Graphical network of the top 20 diseases related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:



Diseases related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Symptoms & Phenotypes for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections

Immunology:
immunodeficiency
decreased igm and igg2
lack of acquired antibodies
low memory b cells
low naive t cells
more
Head And Neck Head:
relative macrocephaly

Skin Nails Hair Skin:
livedo
telangiectasia on the cheeks

Growth Height:
short stature

Head And Neck Face:
broad forehead
malar hypoplasia

Skeletal Limbs:
bone dysplasia (in some patients)
bone pain (in some patients)
lacunar bone lesions (in some patients)
cortical thickening (in some patients)
modeling defects at the long bone diaphyses (in some patients)


Clinical features from OMIM:

615139

Human phenotypes related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 recurrent respiratory infections 32 HP:0002205
3 abnormal facial shape 32 HP:0001999
4 short stature 32 HP:0004322
5 immunodeficiency 32 HP:0002721
6 broad forehead 32 HP:0000337
7 bone pain 32 occasional (7.5%) HP:0002653
8 relative macrocephaly 32 HP:0004482
9 telangiectases of the cheeks 32 HP:0007421

UMLS symptoms related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:


flushing, icterus, pruritus, skin manifestations

Drugs & Therapeutics for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Search Clinical Trials , NIH Clinical Center for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Cochrane evidence based reviews: livedo reticularis

Genetic Tests for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Genetic tests related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

# Genetic test Affiliating Genes
1 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 29 POLE

Anatomical Context for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

MalaCards organs/tissues related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

41
Skin, Bone, T Cells, B Cells

Publications for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Articles related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

# Title Authors Year
1
Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome). ( 23230001 )
2012

Variations for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

ClinVar genetic disease variations for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLE NM_006231.3(POLE): c.4444+3A> G single nucleotide variant Pathogenic rs398122515 GRCh37 Chromosome 12, 133219990: 133219990
2 POLE NM_006231.3(POLE): c.4444+3A> G single nucleotide variant Pathogenic rs398122515 GRCh38 Chromosome 12, 132643404: 132643404

Expression for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Search GEO for disease gene expression data for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature.

Pathways for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

GO Terms for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

Sources for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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