FILS
MCID: FCL084
MIFTS: 41

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:

Name: Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 57 73 71
Fils Syndrome 57 58 73 38
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome 58 28 5
Livedo Reticularis 71 75
Fils 57 73
Cutis Marmorata 71

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:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM® 57 615139
ICD10 via Orphanet 32 Q87.1
Orphanet 58 ORPHA352712
UMLS 71 C0085642 C0263401 C3554576

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

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...

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 223)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 12.0
2 livedoid vasculitis 11.6
3 antiphospholipid syndrome 11.4
4 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.4
5 aortic aneurysm, familial thoracic 6 11.4
6 coenzyme q10 deficiency, primary, 2 11.4
7 cholesterol embolism 11.3
8 neonatal antiphospholipid syndrome 11.2
9 aortic aneurysm, familial thoracic 4 11.2
10 cutis marmorata telangiectatica congenita 11.2
11 aortic aneurysm, familial thoracic 1 11.2
12 moyamoya disease 6 with or without achalasia 11.2
13 sting-associated vasculopathy with onset in infancy 11.2
14 exanthem 10.6
15 primary hyperoxaluria 10.5
16 thrombophilia due to thrombin defect 10.5
17 vasculitis 10.5
18 purpura 10.5
19 kidney disease 10.4
20 cerebrovascular disease 10.4
21 disorder of glyoxylate metabolism 10.4
22 raynaud disease 10.4
23 vascular disease 10.4
24 systemic lupus erythematosus 10.4
25 thrombosis 10.4
26 telangiectasis 10.4
27 lupus erythematosus 10.4
28 immune deficiency disease 10.3
29 colorectal cancer 12 10.3
30 systemic lupus erythematosus 1 10.3
31 hypothyroidism 10.3
32 thrombocytopenia 10.3
33 polyarteritis nodosa 10.3
34 autoimmune disease 10.3
35 migraine with or without aura 1 10.3
36 nephrolithiasis, calcium oxalate 10.3
37 pheochromocytoma 10.3
38 thrombocythemia 1 10.3
39 buerger disease 10.3
40 deficiency anemia 10.3
41 dermatomyositis 10.3
42 essential thrombocythemia 10.3
43 cryoglobulinemia 10.3
44 calciphylaxis 10.3
45 hemolytic anemia 10.3
46 connective tissue disease 10.3
47 chronic kidney disease 10.3
48 parkinson disease, late-onset 10.2
49 anemia, autoimmune hemolytic 10.2
50 moyamoya disease 1 10.2

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

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

30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 30 Very rare (1%) HP:0004322
2 immunodeficiency 30 Very rare (1%) HP:0002721
3 recurrent upper respiratory tract infections 30 Very rare (1%) HP:0002788
4 malar flattening 30 Very rare (1%) HP:0000272
5 broad forehead 30 Very rare (1%) HP:0000337
6 bone pain 30 Very rare (1%) HP:0002653
7 bronchiectasis 30 Very rare (1%) HP:0002110
8 decreased circulating total igm 30 Very rare (1%) HP:0002850
9 recurrent lower respiratory tract infections 30 Very rare (1%) HP:0002783
10 telangiectases of the cheeks 30 Very rare (1%) HP:0007421
11 metaphyseal striations 30 Very rare (1%) HP:0031367
12 livedo 30 Very rare (1%) HP:0033832
13 relative macrocephaly 30 HP:0004482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Respiratory:
recurrent respiratory infections

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

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

Growth Height:
short stature

Head And Neck Face:
broad forehead
malar hypoplasia

Skin Nails Hair Skin:
livedo
telangiectasia on the cheeks

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

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

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

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-Short Stature Syndrome 28 POLE

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

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

MalaCards : Skin, B Cells, T Cells, Bone, Brain, Heart, Breast

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

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

(show top 50) (show all 1142)
# Title Authors PMID Year
1
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). 62 57 5
23230001 2012
2
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. 57
25948378 2015
3
The characteristics of dysphagia and the incidence of pneumonia in Myotonic dystrophy type 1 patients especially concerning swallowing function evaluated by endoscopy. 62
35428520 2022
4
Analysis of Serbian Primary Antiphospholipid Syndrome Patients Confirmed a Strong Association Between Livedo Reticularis and Arterial Thrombosis: A National Cross-Sectional Cohort Study. 62
35697016 2022
5
Phenotypic continuum between POLE-related recessive disorders: A case report and literature review. 62
35860951 2022
6
Livedo reticularis after COVID-19 vaccination. 62
36182117 2022
7
The Applicability of the ESPEN and EASO-Defined Diagnostic Criteria for Sarcopenic Obesity in Japanese Patients after Stroke: Prevalence and Association with Outcomes. 62
36235857 2022
8
Association of Existence of Sarcopenia and Poor Recovery of Swallowing Function in Post-Stroke Patients with Severe Deglutition Disorder: A Multicenter Cohort Study. 62
36235767 2022
9
A phase variety of fluorinated ionic liquids: Molecular conformational and crystal polymorph. 62
36252301 2022
10
A comprehensive narrative review of the cutaneous manifestations associated with COVID-19. 62
36237171 2022
11
Calf circumference and stroke are independent predictors for an improvement in the food intake level scale in the Japanese sarcopenic dysphagia database. 62
35612760 2022
12
Mammalian Target of Rapamycin Pathway Assessment in Antiphospholipid Antibody-Positive Patients with Livedo. 62
35649551 2022
13
Unsupervised feature selection based on incremental forward iterative Laplacian score. 62
36160366 2022
14
Rash morphology as a predictor of COVID-19 severity: A systematic review of the cutaneous manifestations of COVID-19. 62
35941938 2022
15
Transient breast livedo reticularis-like exanthem in an adolescent with COVID-19. 62
35487234 2022
16
Livedo Reticularis-A Presenting Sign of Neuromyelitis Optica Spectrum Disorder. 62
35759273 2022
17
Livedo reticularis: a rare manifestation of anti-MDA5 positive dermatoyositis. 62
35150244 2022
18
Livedo Racemosa in Lymphocytic Vasculitis. 62
35984296 2022
19
Clinicopathological characteristics of cutaneous lupus erythematosus patients in Bangladesh. 62
36090729 2022
20
Impact of dysphagia and its severity on long-term survival and swallowing function outcomes in patients with idiopathic inflammatory myopathies other than inclusion body myositis. 62
35678075 2022
21
Skin manifestations of pancreatic diseases. 62
35938387 2022
22
New Insights into Macular Type of Primary Cutaneous B-Cell Lymphoma: Extension of the Clinical and Histopathological Patterns. 62
35817021 2022
23
Unveiling Deficiency of Adenosine Deaminase 2: An Adult Patient With Recurrent Strokes, Vasculitic Ulcers, and Bowel Perforation. 62
35777819 2022
24
Umbilical spider's web. 62
36198302 2022
25
Effect of acupuncture on long-term outcomes in patients with post-stroke dysphagia. 62
35871375 2022
26
Development of the Sakiika transport test: A practical screening method for patients with oral-phase dysphagia. 62
34789609 2022
27
Susac Syndrome With Livedo Reticularis: Pathogenesis and Literature Review. 62
36046280 2022
28
« C’est mon fils que vous avez devant vos yeux ». 62
35678354 2022
29
Livedo reticularis on bilateral knees after the third dose of messenger RNA-1273 SARS-CoV-2 vaccine. 62
35169755 2022
30
Acute onset of severe livedo reticularis in a patient with myocardial infarction. 62
35950136 2022
31
Nutritional and swallowing statuses but not intramuscular adipose tissue and muscle mass are related to activities of daily living in older inpatients who are judged as severely low body mass index in the Global Leadership Initiative on Malnutrition criteria. 62
35623846 2022
32
Myasthenia gravis, atypical polyneuropathy and multiple autoimmune phenomena in the same patient, with HLA-immunogenetic profile expectable for Greek chronic inflammatory demyelinating polyneuropathy: a case report. 62
32988257 2022
33
Disease characteristics in patients with juvenile- and adult-onset systemic lupus erythematosus: A multi-center comparative study. 62
36017206 2022
34
Cutaneous Manifestations of Coronavirus Disease 2019: Skin Narratives and Dialogues. 62
35642227 2022
35
Disclosing the Potential of Fluorinated Ionic Liquids as Interferon-Alpha 2b Delivery Systems. 62
35683707 2022
36
Catastrophic Antiphospholipid Syndrome: Skin, Eye and Brain Involvement. 62
33186069 2022
37
Description of damage in different clusters of patients with antiphospholipid syndrome. 62
35166607 2022
38
Eosinophilic granulomatosis with polyangiitis complicated with rapidly progressive glomerulonephritis in a young man who is a healthy cyclist. 62
35471001 2022
39
Cardiac myxoma presenting as relapsing livedo reticularis. 62
33880772 2022
40
Livedo reticularis and flagellate erythema in adult dermatomyositis: a rare cutaneous presentation. 62
34626103 2022
41
PARACENTRAL ACUTE MIDDLE MACULOPATHY AFTER AORTIC ANEURYSM REPAIR. 62
31517743 2022
42
Cutaneous manifestations of COVID-19 among healthcare workers: A Case report and literature review. 62
35317059 2022
43
Association between postextubation dysphagia and physical function in survivors of critical illness: A retrospective study. 62
35063194 2022
44
Livedo Reticularis Associated with COVID-19. 62
34776480 2022
45
Doppler Ultrasound in the Management of Vascular Complications Associated with Hyaluronic Acid Dermal Fillers. 62
35309877 2022
46
Pediatric antiphospholipid syndrome: clinical features and therapeutic interventions in a single center retrospective case series. 62
35197077 2022
47
Primary antiphospholipid syndrome in pediatrics: beyond thrombosis. Report of 32 cases and review of the evidence. 62
35164787 2022
48
Clinical, Serological, and Genetic Characteristics of a Hungarian Myositis-Scleroderma Overlap Cohort. 62
35547355 2022
49
A Case of Budd-Chiari Syndrome Associated With Antiphospholipid Syndrome Treated Successfully by Transjugular Intrahepatic Portosystemic Shunt. 62
35601267 2022
50
Relationship Between Pneumonia and Dysphagia in Patients With Multiple System Atrophy. 62
35860494 2022

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

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

5 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.4(POLE):c.4444+3A>G SNV Pathogenic
41417 rs398122515 GRCh37: 12:133219990-133219990
GRCh38: 12:132643404-132643404
2 POLE NM_006231.4(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic
40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664
3 POLE NM_006231.4(POLE):c.5867A>T (p.Glu1956Val) SNV Likely Pathogenic
547165 rs780843358 GRCh37: 12:133210909-133210909
GRCh38: 12:132634323-132634323
4 POLE NM_006231.4(POLE):c.5912A>G (p.Asn1971Ser) SNV Likely Pathogenic
439278 rs772127913 GRCh37: 12:133210864-133210864
GRCh38: 12:132634278-132634278
5 POLE NM_006231.4(POLE):c.2865-1G>T SNV Likely Pathogenic
1687263 GRCh37: 12:133237751-133237751
GRCh38: 12:132661165-132661165
6 POLE NM_006231.4(POLE):c.6674G>A (p.Arg2225His) SNV Uncertain Significance
240612 rs538875477 GRCh37: 12:133201564-133201564
GRCh38: 12:132624978-132624978
7 POLE NM_006231.4(POLE):c.431A>G (p.His144Arg) SNV Uncertain Significance
405687 rs755709875 GRCh37: 12:133256230-133256230
GRCh38: 12:132679644-132679644
8 POLE NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) SNV Uncertain Significance
405803 rs531705054 GRCh37: 12:133234521-133234521
GRCh38: 12:132657935-132657935
9 POLE NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) SNV Uncertain Significance
423238 rs576578672 GRCh37: 12:133252102-133252102
GRCh38: 12:132675516-132675516
10 POLE NM_006231.4(POLE):c.68A>G (p.Asp23Gly) SNV Uncertain Significance
473820 rs765898876 GRCh37: 12:133257860-133257860
GRCh38: 12:132681274-132681274
11 POLE NM_006231.4(POLE):c.3230G>A (p.Arg1077His) SNV Uncertain Significance
246318 rs768950975 GRCh37: 12:133235926-133235926
GRCh38: 12:132659340-132659340
12 POLE NM_006231.4(POLE):c.446A>G (p.Lys149Arg) SNV Uncertain Significance
246430 rs374428362 GRCh37: 12:133256215-133256215
GRCh38: 12:132679629-132679629
13 POLE NM_006231.4(POLE):c.6050G>A (p.Arg2017His) SNV Uncertain Significance
240582 rs144178150 GRCh37: 12:133209336-133209336
GRCh38: 12:132632750-132632750
14 POLE NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) SNV Uncertain Significance
540694 rs1462887616 GRCh37: 12:133209250-133209250
GRCh38: 12:132632664-132632664
15 POLE NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) SNV Uncertain Significance
473670 rs766511597 GRCh37: 12:133219839-133219839
GRCh38: 12:132643253-132643253
16 POLE NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) SNV Uncertain Significance
240616 rs375741031 GRCh37: 12:133201508-133201508
GRCh38: 12:132624922-132624922
17 POLE NM_006231.4(POLE):c.154C>T (p.Arg52Trp) SNV Uncertain Significance
240396 rs115452881 GRCh37: 12:133257774-133257774
GRCh38: 12:132681188-132681188
18 POLE NM_006231.4(POLE):c.274A>C (p.Ser92Arg) SNV Uncertain Significance
240443 rs758382516 GRCh37: 12:133257204-133257204
GRCh38: 12:132680618-132680618
19 POLE NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) SNV Uncertain Significance
240530 rs138564205 GRCh37: 12:133219531-133219531
GRCh38: 12:132642945-132642945
20 POLE NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) SNV Uncertain Significance
405795 rs768244569 GRCh37: 12:133218901-133218901
GRCh38: 12:132642315-132642315
21 POLE NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) SNV Uncertain Significance
240444 rs141552148 GRCh37: 12:133238204-133238204
GRCh38: 12:132661618-132661618
22 POLE NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) SNV Uncertain Significance
540644 rs867677414 GRCh37: 12:133241972-133241972
GRCh38: 12:132665386-132665386
23 POLE NM_006231.4(POLE):c.2359G>A (p.Asp787Asn) SNV Uncertain Significance
240433 rs878854851 GRCh37: 12:133241997-133241997
GRCh38: 12:132665411-132665411
24 POLE NM_006231.4(POLE):c.2276G>A (p.Arg759His) SNV Uncertain Significance
240431 rs746774432 GRCh37: 12:133244132-133244132
GRCh38: 12:132667546-132667546
25 POLE NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) SNV Uncertain Significance
405853 rs374800058 GRCh37: 12:133244984-133244984
GRCh38: 12:132668398-132668398
26 POLE NM_006231.4(POLE):c.2113C>T (p.Arg705Trp) SNV Uncertain Significance
540760 rs200621883 GRCh37: 12:133245002-133245002
GRCh38: 12:132668416-132668416
27 POLE NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) SNV Uncertain Significance
405654 rs36120395 GRCh37: 12:133245025-133245025
GRCh38: 12:132668439-132668439
28 POLE NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) SNV Uncertain Significance
240374 rs141396559 GRCh37: 12:133252363-133252363
GRCh38: 12:132675777-132675777
29 POLE NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) SNV Uncertain Significance
484505 rs1048183984 GRCh37: 12:133252386-133252386
GRCh38: 12:132675800-132675800
30 POLE NM_006231.4(POLE):c.266A>C (p.Asp89Ala) SNV Uncertain Significance
405904 rs756843283 GRCh37: 12:133257212-133257212
GRCh38: 12:132680626-132680626
31 POLE NM_006231.4(POLE):c.198G>A (p.Met66Ile) SNV Uncertain Significance
540773 rs764962999 GRCh37: 12:133257730-133257730
GRCh38: 12:132681144-132681144
32 POLE NM_006231.4(POLE):c.73G>T (p.Ala25Ser) SNV Uncertain Significance
473825 rs773204331 GRCh37: 12:133257855-133257855
GRCh38: 12:132681269-132681269
33 POLE NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) SNV Uncertain Significance
405854 rs771980261 GRCh37: 12:133212528-133212528
GRCh38: 12:132635942-132635942
34 POLE NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) SNV Uncertain Significance
473692 rs372388555 GRCh37: 12:133219285-133219285
GRCh38: 12:132642699-132642699
35 POLE NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) SNV Uncertain Significance
240524 rs878854873 GRCh37: 12:133219848-133219848
GRCh38: 12:132643262-132643262
36 POLE NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) SNV Uncertain Significance
403334 rs748522633 GRCh37: 12:133219884-133219884
GRCh38: 12:132643298-132643298
37 POLE NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) SNV Uncertain Significance
405827 rs759497382 GRCh37: 12:133220428-133220428
GRCh38: 12:132643842-132643842
38 POLE NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) SNV Uncertain Significance
405695 rs575419120 GRCh37: 12:133220443-133220443
GRCh38: 12:132643857-132643857
39 POLE NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) SNV Uncertain Significance
246358 rs149145495 GRCh37: 12:133220541-133220541
GRCh38: 12:132643955-132643955
40 POLE NM_006231.4(POLE):c.4145G>A (p.Arg1382His) SNV Uncertain Significance
405766 rs143229302 GRCh37: 12:133225519-133225519
GRCh38: 12:132648933-132648933
41 POLE NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) SNV Uncertain Significance
484447 rs756246229 GRCh37: 12:133226406-133226406
GRCh38: 12:132649820-132649820
42 POLE NM_006231.4(POLE):c.6068C>A (p.Thr2023Asn) SNV Uncertain Significance
619906 rs771628123 GRCh37: 12:133209318-133209318
GRCh38: 12:132632732-132632732
43 POLE NM_006231.4(POLE):c.2054G>A (p.Arg685Gln) SNV Uncertain Significance
405623 rs770597683 GRCh37: 12:133245061-133245061
GRCh38: 12:132668475-132668475
44 POLE NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) SNV Uncertain Significance
405621 rs770024304 GRCh37: 12:133225574-133225574
GRCh38: 12:132648988-132648988
45 POLE NM_006231.4(POLE):c.6476G>A (p.Arg2159His) SNV Uncertain Significance
240596 rs373092830 GRCh37: 12:133202758-133202758
GRCh38: 12:132626172-132626172
46 POLE NM_006231.4(POLE):c.1784A>G (p.Asn595Ser) SNV Uncertain Significance
540799 rs969500436 GRCh37: 12:133248811-133248811
GRCh38: 12:132672225-132672225
47 POLE NM_006231.4(POLE):c.575C>T (p.Ser192Phe) SNV Uncertain Significance
405901 rs1060500891 GRCh37: 12:133256086-133256086
GRCh38: 12:132679500-132679500
48 POLE NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) SNV Uncertain Significance
405704 rs771490182 GRCh37: 12:133202789-133202789
GRCh38: 12:132626203-132626203
49 POLE NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) SNV Uncertain Significance
240556 rs368364666 GRCh37: 12:133215881-133215881
GRCh38: 12:132639295-132639295
50 POLE NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) SNV Uncertain Significance
240515 rs772734618 GRCh37: 12:133219911-133219911
GRCh38: 12:132643325-132643325

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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57 OMIM® (Updated 24-Oct-2022)
61 PubChem
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69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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