FILS
MCID: FCL084
MIFTS: 39

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 08-Dec-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 pruritus, flushing and icterus. 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 08-Dec-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 220)
# 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 lupus erythematosus 10.4
24 systemic lupus erythematosus 10.4
25 thrombosis 10.4
26 telangiectasis 10.4
27 vascular disease 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 bronchiectasis 30 Very rare (1%) HP:0002110
5 malar flattening 30 Very rare (1%) HP:0000272
6 broad forehead 30 Very rare (1%) HP:0000337
7 bone pain 30 Very rare (1%) HP:0002653
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 08-Dec-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 08-Dec-2022)

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


pruritus; flushing; icterus; 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, Skeletal Muscle, Lung, Heart

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

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

(show top 50) (show all 104)
# 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
A phase variety of fluorinated ionic liquids: Molecular conformational and crystal polymorph. 62
36252301 2023
4
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
5
Phenotypic continuum between POLE-related recessive disorders: A case report and literature review. 62
35860951 2022
6
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
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
Polypharmacy and Its Association with Dysphagia and Malnutrition among Stroke Patients with Sarcopenia. 62
36296943 2022
9
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
10
Unsupervised feature selection based on incremental forward iterative Laplacian score. 62
36160366 2022
11
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
12
Development of the Sakiika transport test: A practical screening method for patients with oral-phase dysphagia. 62
34789609 2022
13
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
14
Disclosing the Potential of Fluorinated Ionic Liquids as Interferon-Alpha 2b Delivery Systems. 62
35683707 2022
15
Association between postextubation dysphagia and physical function in survivors of critical illness: A retrospective study. 62
35063194 2022
16
Effect of acupuncture on long-term outcomes in patients with post-stroke dysphagia. 62
35871375 2022
17
Association between Inflammation and Functional Outcome in Patients with Sarcopenic Dysphagia. 62
35450997 2022
18
Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome. 62
36071887 2022
19
The degree of recovery in swallowing ability in older inpatients with aspiration pneumonia is related to intramuscular adipose tissue of the quadriceps than to muscle mass. 62
36215269 2022
20
Life Cycle Assessment of the Separation and Recycling of Fluorinated Gases Using Ionic Liquids in a Circular Economy Framework. 62
35036177 2022
21
Relationship Between Pneumonia and Dysphagia in Patients With Multiple System Atrophy. 62
35860494 2022
22
Association between Malnutrition Severity and Swallowing Function in Convalescent Rehabilitation Wards: A Multi-Center Cohort Study in Malnourished Patients with Sarcopenic Dysphagia. 62
35587759 2022
23
Prevalence of Hoarseness and Its Association with Severity of Dysphagia in Patients with Sarcopenic Dysphagia. 62
35297470 2022
24
Association between BIA-derived Phase Angle and Sarcopenia and Improvement in Activities of Daily Living and Dysphagia in Patients undergoing Post-Stroke Rehabilitation. 62
35718868 2022
25
Greater Quadriceps Muscle Mass at Post-Acute Care Admission is Associated with Better Swallowing Ability at Discharge among Adults with Stroke. 62
34023301 2021
26
« Tu es l’un de mes fils, cher Fabrice, et je t’aime comme tel »…. 62
34895460 2021
27
Ultra-high b value DWI in distinguishing fresh gray matter ischemic lesions from white matter ones: a comparative study with routine and high b value DWI. 62
34737925 2021
28
Intramuscular adipose tissue of the quadriceps is more strongly related to recovery of swallowing ability than is muscle mass in older inpatients: A prospective study. 62
34246889 2021
29
Factors Affecting the Swallowing Dysfunction Following Oral Cancer Surgery. 62
34743480 2021
30
Association of preoperative sarcopenia with postoperative dysphagia in patients with thoracic esophageal cancer. 62
33306782 2021
31
Improvement in Oral Health Enhances the Recovery of Activities of Daily Living and Dysphagia after Stroke. 62
34247054 2021
32
Nutritional intervention after an early assessment by a flexible endoscopic evaluation of swallowing is associated with a shorter hospital stay for patients with acute cerebral infarction: A retrospective study. 62
34191421 2021
33
Tracheoesophageal Diversion and Puncture for Preserving Phonation in Intractable Aspiration: A Case Series. 62
33369756 2021
34
A Review on Ionic Liquids-Based Membranes for Middle and High Temperature Polymer Electrolyte Membrane Fuel Cells (PEM FCs). 62
34063925 2021
35
Implementation of synthetic fast-ion loss detector and imaging heavy ion beam probe diagnostics in the 3D hybrid kinetic-MHD code MEGA. 62
34243424 2021
36
De père en fils. 62
33926629 2021
37
Increased intramuscular adipose tissue of the quadriceps is more strongly related to declines in ADL than is loss of muscle mass in older inpatients. 62
32917418 2021
38
COVID-19 Infection-Related Weight Loss Decreases Eating/Swallowing Function in Schizophrenic Patients. 62
33805263 2021
39
Elevated Creatinine-Based Estimated Glomerular Filtration Rate is Associated with Increased Risk of Sarcopenia, Dysphagia, and Reduced Functional Recovery after Stroke. 62
33253988 2021
40
Nutritional Management Enhances the Recovery of Swallowing Ability in Older Patients with Sarcopenic Dysphagia. 62
33670314 2021
41
Construction and Quality Evaluation of the Japanese Sarcopenic Dysphagia Database. 62
34409973 2021
42
Low Hemoglobin Levels are Associated with Sarcopenia, Dysphagia, and Adverse Rehabilitation Outcomes After Stroke. 62
33254381 2020
43
Chair-stand exercise improves post-stroke dysphagia. 62
32772455 2020
44
Shorter Interval between Onset and Admission to Convalescent Rehabilitation Wards Is Associated with Improved Outcomes in Ischemic Stroke Patients. 62
32848123 2020
45
Filling in the gaps on FILS syndrome: A case report and literature review. 62
32705701 2020
46
Impact of Multiple Texture-Modified Diets on Oral Intake and Nutritional Status in Older Patients with Pneumonia: A Retrospective Cohort Study. 62
31535216 2020
47
Tailor-Made Fluorinated Ionic Liquids for Protein Delivery. 62
32823882 2020
48
Functionalized ionic liquids based on vegetable oils for rare earth elements recovery. 62
35515789 2020
49
Dysphagia is associated with poor physical function in patients with acute heart failure: a prospective cohort study. 62
31368089 2020
50
Nutritional status change and activities of daily living in elderly pneumonia patients admitted to acute care hospital: A retrospective cohort study from the Japan Rehabilitation Nutrition Database. 62
31837639 2020

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.5912A>G (p.Asn1971Ser) SNV Likely Pathogenic
439278 rs772127913 GRCh37: 12:133210864-133210864
GRCh38: 12:132634278-132634278
4 POLE NM_006231.4(POLE):c.2865-1G>T SNV Likely Pathogenic
1687263 GRCh37: 12:133237751-133237751
GRCh38: 12:132661165-132661165
5 POLE NM_006231.4(POLE):c.5867A>T (p.Glu1956Val) SNV Likely Pathogenic
547165 rs780843358 GRCh37: 12:133210909-133210909
GRCh38: 12:132634323-132634323
6 POLE NM_006231.4(POLE):c.706C>G (p.Leu236Val) SNV Uncertain Significance
661594 rs553397628 GRCh37: 12:133254178-133254178
GRCh38: 12:132677592-132677592
7 POLE NM_006231.4(POLE):c.6610G>A (p.Val2204Met) SNV Uncertain Significance
569695 rs1060500871 GRCh37: 12:133202278-133202278
GRCh38: 12:132625692-132625692
8 POLE NM_006231.4(POLE):c.4523G>A (p.Arg1508His) SNV Uncertain Significance
240525 rs142508245 GRCh37: 12:133219838-133219838
GRCh38: 12:132643252-132643252
9 POLE NM_006231.4(POLE):c.5659G>A (p.Val1887Met) SNV Uncertain Significance
240570 rs114119067 GRCh37: 12:133214619-133214619
GRCh38: 12:132638033-132638033
10 POLE NM_006231.4(POLE):c.6575C>T (p.Ala2192Val) SNV Uncertain Significance
405847 rs756301031 GRCh37: 12:133202313-133202313
GRCh38: 12:132625727-132625727
11 POLE NM_006231.4(POLE):c.1630G>A (p.Val544Met) SNV Uncertain Significance
1010167 rs1279012935 GRCh37: 12:133249269-133249269
GRCh38: 12:132672683-132672683
12 POLE NM_006231.4(POLE):c.1108C>A (p.Pro370Thr) SNV Uncertain Significance
423238 rs576578672 GRCh37: 12:133252102-133252102
GRCh38: 12:132675516-132675516
13 POLE NM_006231.4(POLE):c.1064A>G (p.Lys355Arg) SNV Uncertain Significance
240374 rs141396559 GRCh37: 12:133252363-133252363
GRCh38: 12:132675777-132675777
14 POLE NM_006231.4(POLE):c.1041G>T (p.Trp347Cys) SNV Uncertain Significance
484505 rs1048183984 GRCh37: 12:133252386-133252386
GRCh38: 12:132675800-132675800
15 POLE NM_006231.4(POLE):c.431A>G (p.His144Arg) SNV Uncertain Significance
405687 rs755709875 GRCh37: 12:133256230-133256230
GRCh38: 12:132679644-132679644
16 POLE NM_006231.4(POLE):c.274A>C (p.Ser92Arg) SNV Uncertain Significance
240443 rs758382516 GRCh37: 12:133257204-133257204
GRCh38: 12:132680618-132680618
17 POLE NM_006231.4(POLE):c.266A>C (p.Asp89Ala) SNV Uncertain Significance
405904 rs756843283 GRCh37: 12:133257212-133257212
GRCh38: 12:132680626-132680626
18 POLE NM_006231.4(POLE):c.68A>G (p.Asp23Gly) SNV Uncertain Significance
473820 rs765898876 GRCh37: 12:133257860-133257860
GRCh38: 12:132681274-132681274
19 POLE NM_006231.4(POLE):c.5035C>T (p.Arg1679Cys) SNV Uncertain Significance
405795 rs768244569 GRCh37: 12:133218901-133218901
GRCh38: 12:132642315-132642315
20 POLE NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) SNV Uncertain Significance
240530 rs138564205 GRCh37: 12:133219531-133219531
GRCh38: 12:132642945-132642945
21 POLE NM_006231.4(POLE):c.4513C>G (p.Pro1505Ala) SNV Uncertain Significance
240524 rs878854873 GRCh37: 12:133219848-133219848
GRCh38: 12:132643262-132643262
22 POLE NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) SNV Uncertain Significance
403334 rs748522633 GRCh37: 12:133219884-133219884
GRCh38: 12:132643298-132643298
23 POLE NM_006231.4(POLE):c.4270G>A (p.Glu1424Lys) SNV Uncertain Significance
405695 rs575419120 GRCh37: 12:133220443-133220443
GRCh38: 12:132643857-132643857
24 POLE NM_006231.4(POLE):c.4172C>G (p.Ser1391Cys) SNV Uncertain Significance
246358 rs149145495 GRCh37: 12:133220541-133220541
GRCh38: 12:132643955-132643955
25 POLE NM_006231.4(POLE):c.3857G>A (p.Arg1286His) SNV Uncertain Significance
405702 rs771823596 GRCh37: 12:133226040-133226040
GRCh38: 12:132649454-132649454
26 POLE NM_006231.4(POLE):c.3652G>A (p.Val1218Ile) SNV Uncertain Significance
484447 rs756246229 GRCh37: 12:133226406-133226406
GRCh38: 12:132649820-132649820
27 POLE NM_006231.4(POLE):c.3230G>A (p.Arg1077His) SNV Uncertain Significance
246318 rs768950975 GRCh37: 12:133235926-133235926
GRCh38: 12:132659340-132659340
28 POLE NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) SNV Uncertain Significance
265355 rs201115064 GRCh37: 12:133240613-133240613
GRCh38: 12:132664027-132664027
29 POLE NM_006231.4(POLE):c.2384A>G (p.Lys795Arg) SNV Uncertain Significance
540644 rs867677414 GRCh37: 12:133241972-133241972
GRCh38: 12:132665386-132665386
30 POLE NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) SNV Uncertain Significance
240508 rs146711942 GRCh37: 12:133220467-133220467
GRCh38: 12:132643881-132643881
31 POLE NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) SNV Uncertain Significance
405691 rs113998091 GRCh37: 12:133249365-133249365
GRCh38: 12:132672779-132672779
32 POLE NM_006231.4(POLE):c.446A>G (p.Lys149Arg) SNV Uncertain Significance
246430 rs374428362 GRCh37: 12:133256215-133256215
GRCh38: 12:132679629-132679629
33 POLE NM_006231.4(POLE):c.6136G>A (p.Gly2046Arg) SNV Uncertain Significance
540694 rs1462887616 GRCh37: 12:133209250-133209250
GRCh38: 12:132632664-132632664
34 POLE NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) SNV Uncertain Significance
473670 rs766511597 GRCh37: 12:133219839-133219839
GRCh38: 12:132643253-132643253
35 POLE NM_006231.4(POLE):c.2773T>C (p.Ser925Pro) SNV Uncertain Significance
240444 rs141552148 GRCh37: 12:133238204-133238204
GRCh38: 12:132661618-132661618
36 POLE NM_006231.4(POLE):c.6476G>A (p.Arg2159His) SNV Uncertain Significance
240596 rs373092830 GRCh37: 12:133202758-133202758
GRCh38: 12:132626172-132626172
37 POLE NM_006231.4(POLE):c.575C>T (p.Ser192Phe) SNV Uncertain Significance
405901 rs1060500891 GRCh37: 12:133256086-133256086
GRCh38: 12:132679500-132679500
38 POLE NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) SNV Uncertain Significance
240556 rs368364666 GRCh37: 12:133215881-133215881
GRCh38: 12:132639295-132639295
39 POLE NM_006231.4(POLE):c.4450A>C (p.Ile1484Leu) SNV Uncertain Significance
240515 rs772734618 GRCh37: 12:133219911-133219911
GRCh38: 12:132643325-132643325
40 POLE NM_006231.4(POLE):c.2510T>C (p.Phe837Ser) SNV Uncertain Significance
405863 rs139182500 GRCh37: 12:133241007-133241007
GRCh38: 12:132664421-132664421
41 POLE NM_006231.4(POLE):c.5914G>C (p.Val1972Leu) SNV Uncertain Significance
937359 rs774726229 GRCh37: 12:133210862-133210862
GRCh38: 12:132634276-132634276
42 POLE NM_006231.4(POLE):c.2276G>A (p.Arg759His) SNV Uncertain Significance
240431 rs746774432 GRCh37: 12:133244132-133244132
GRCh38: 12:132667546-132667546
43 POLE NM_006231.4(POLE):c.2131T>C (p.Ser711Pro) SNV Uncertain Significance
405853 rs374800058 GRCh37: 12:133244984-133244984
GRCh38: 12:132668398-132668398
44 POLE NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) SNV Uncertain Significance
405654 rs36120395 GRCh37: 12:133245025-133245025
GRCh38: 12:132668439-132668439
45 POLE NM_006231.4(POLE):c.198G>A (p.Met66Ile) SNV Uncertain Significance
540773 rs764962999 GRCh37: 12:133257730-133257730
GRCh38: 12:132681144-132681144
46 POLE NM_006231.4(POLE):c.73G>T (p.Ala25Ser) SNV Uncertain Significance
473825 rs773204331 GRCh37: 12:133257855-133257855
GRCh38: 12:132681269-132681269
47 POLE NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) SNV Uncertain Significance
405854 rs771980261 GRCh37: 12:133212528-133212528
GRCh38: 12:132635942-132635942
48 POLE NM_006231.4(POLE):c.4759G>A (p.Val1587Ile) SNV Uncertain Significance
473692 rs372388555 GRCh37: 12:133219285-133219285
GRCh38: 12:132642699-132642699
49 POLE NM_006231.4(POLE):c.4285A>T (p.Thr1429Ser) SNV Uncertain Significance
405827 rs759497382 GRCh37: 12:133220428-133220428
GRCh38: 12:132643842-132643842
50 POLE NM_006231.4(POLE):c.4145G>A (p.Arg1382His) SNV Uncertain Significance
405766 rs143229302 GRCh37: 12:133225519-133225519
GRCh38: 12:132648933-132648933

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

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