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

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 72 29 6 39 70
Fils Syndrome 57 58 72 36 13
Livedo Reticularis 44 17 70
Fils 57 72
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome 58
Cutis Marmorata 70

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®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM® 57 615139
KEGG 36 H02370
ICD10 via Orphanet 33 Q87.1
Orphanet 58 ORPHA352712
UMLS 70 C0085642 C0263401 C3554576

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

UniProtKB/Swiss-Prot : 72 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. The drugs Dacarbazine and Vinblastine have been mentioned in the context of this disorder. Affiliated tissues include bone, b cells and t cells, and related phenotypes are bone pain 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) (Updated 05-Apr-2021)

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 : 73 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 187)
# Related Disease Score Top Affiliating Genes
1 sneddon syndrome 11.9
2 livedoid vasculitis 11.5
3 antiphospholipid syndrome 11.4
4 aortic aneurysm, familial thoracic 6 11.4
5 cholesterol embolism 11.2
6 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 11.2
7 cutis marmorata telangiectatica congenita 11.2
8 coenzyme q10 deficiency, primary, 2 11.2
9 sting-associated vasculopathy with onset in infancy 11.2
10 familial thoracic aortic aneurysm and aortic dissection 11.2
11 vasculitis 10.6
12 exanthem 10.5
13 purpura 10.4
14 primary hyperoxaluria 10.4
15 cerebrovascular disease 10.4
16 kidney disease 10.4
17 raynaud phenomenon 10.4
18 telangiectasis 10.3
19 immune deficiency disease 10.3
20 colorectal cancer 12 10.3
21 attenuated familial adenomatous polyposis 10.3
22 systemic lupus erythematosus 10.3
23 thrombosis 10.3
24 hypothyroidism 10.2
25 essential thrombocythemia 10.2
26 cryoglobulinemia 10.2
27 calciphylaxis 10.2
28 hemolytic anemia 10.2
29 polyarteritis nodosa 10.2
30 autoimmune disease 10.1
31 migraine with or without aura 1 10.1
32 parkinson disease, late-onset 10.1
33 pheochromocytoma 10.1
34 thrombophilia due to thrombin defect 10.1
35 anemia, autoimmune hemolytic 10.1
36 moyamoya disease 1 10.1
37 hepatitis c virus 10.1
38 adrenal gland pheochromocytoma 10.1
39 infective endocarditis 10.1
40 dermatomyositis 10.1
41 endocarditis 10.1
42 hyperparathyroidism 10.1
43 urticaria 10.1
44 thrombocytopenia 10.1
45 vascular disease 10.1
46 thrombocytosis 10.1
47 acute kidney failure 10.1
48 central nervous system disease 10.1
49 uremia 10.1
50 pancreatitis 10.1

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 bone pain 31 occasional (7.5%) HP:0002653
2 recurrent respiratory infections 31 HP:0002205
3 abnormal facial shape 31 HP:0001999
4 short stature 31 HP:0004322
5 immunodeficiency 31 HP:0002721
6 malar flattening 31 HP:0000272
7 broad forehead 31 HP:0000337
8 relative macrocephaly 31 HP:0004482
9 telangiectases of the cheeks 31 HP:0007421

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 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)

Clinical features from OMIM®:

615139 (Updated 05-Apr-2021)

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

Drugs for Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166 2942
2
Vinblastine Approved Phase 2 865-21-4 241903 13342
3
Bleomycin Approved, Investigational Phase 2 11056-06-7 5360373
4
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
6
Lenalidomide Approved Phase 2 191732-72-6 216326
7
rituximab Approved Phase 2 174722-31-7 10201696
8
Obinutuzumab Approved, Investigational Phase 2 949142-50-1
9
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
10
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
11
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
12
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
13 Bendamustine Hydrochloride Phase 2
14 Antibiotics, Antitubercular Phase 2
15 Tubulin Modulators Phase 2
16 Antimitotic Agents Phase 2
17 Alkylating Agents Phase 2
18 Anti-Bacterial Agents Phase 2
19 Gastrointestinal Agents Phase 2
20 Angiogenesis Inhibitors Phase 2
21 Antiemetics Phase 2
22 Hormone Antagonists Phase 2
23 glucocorticoids Phase 2
24 Antirheumatic Agents Phase 2
25 Hormones Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 Immunologic Factors Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Antineoplastic Agents, Immunological Phase 2
30
Liposomal doxorubicin Phase 2 31703
31
Dopamine Approved 62-31-7, 51-61-6 681
32
Methamphetamine Approved, Illicit 537-46-2 10836
33
Silicon Approved, Investigational 7440-21-3 4082203
34 Central Nervous System Stimulants
35 Dopamine Agents
36 Fluorides
37 Sympathomimetics
38 Neurotransmitter Agents
39 Dopamine Uptake Inhibitors
40 Adrenergic Agents
41 Carbopol 940
42 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Rituximab Plus Bendamustine as Front Line Treatment in Frail Elderly (>70 Years) Patients With Diffuse Large B-cell Non-Hodgkin's Lymphoma: a Phase II Multicenter Study of the Fondazione Italiana Linfomi (FIL) Unknown status NCT01990144 Phase 2 Bendamustine+Rituximab
2 Brentuximab Vedotin Associated With Chemotherapy in Untreated Patients With Stage I/II Unfavourable Hodgkin Lymphoma. A Randomized Phase II LYSA-FIL-EORTC Intergroup Study Active, not recruiting NCT02292979 Phase 2 Doxorubicin;Bleomycin;Vinblastine;Dacarbazine;Brentuximab Vedotin
3 A Combination of Lenalidomide and Rituximab as Front Line Therapy for the Treatment of Elderly Frail Patients Evaluated in CGA With Diffuse Large B-cells Non-Hodgkin Lymphoma. A Phase II Study of the Fondazione Italiana Linfomi (FIL) Active, not recruiting NCT02955823 Phase 2 Rituximab-Dexamethasone-Lenalidomide
4 GA101-miniCHOP Regimen for the Treatment of Elderly Unfit Patients With Diffuse Large B-cell Non-Hodgkin's Lymphoma A Phase II Study of the Fondazione Italiana Linfomi (FIL) Terminated NCT02495454 Phase 2 Ga101
5 Efficacy Assessment of CT-guided Hook Wire Localization of Lung Nodes With Medical Device " Fil d'Ariane " Laurane médical Before Thoracoscopy- HARNO Trial Withdrawn NCT02648594 Phase 2
6 Clinical Performance of Bioactive Restorative Material Versus Glass Hybrid Restorative in Posterior Restorations of High Caries Risk Patients: Randomized Clinical Trial Unknown status NCT03608306
7 Randomized, Controlled Clinical Evaluation of Glass Ionomer System vs Composite Posterior Restorations Completed NCT03822403
8 Randomized, Controlled Trial of Glass Ionomer System vs Composite Posterior Restorations Completed NCT02888912
9 Longitudinal Follow-up of High Viscosity Glassionomer IonoStar Plus Versus a Composite Bulk X-tra-Fil Combined With Futurabond U (Splith Mouth Study): Reunion Island, Circus of Mafate Recruiting NCT03568253
10 Postoperative Rehabilitation After Knee Arthroplasty, With or Without Anti-Gravity Treadmill Recruiting NCT03904030
11 Reproducibility of External Anal Sphincter Elastic Properties Assessment Using Elastography During Pregnancy Recruiting NCT04350632
12 The Role of 18F-FDG-PET for Staging and Prognostication in Patients Enrolled in the Fondazione Italiana Linfomi (FIL) MCL0208 Trial Not yet recruiting NCT04600804

Search 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:

40
Bone, B Cells, T Cells

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

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

# Title Authors PMID Year
1
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). 6 57 61
23230001 2012
2
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. 57
25948378 2015
3
Filling in the gaps on FILS syndrome: A case report and literature review. 61
32705701 2020

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

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

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLE NM_006231.3(POLE):c.1270C>G (p.Leu424Val) SNV Pathogenic 40046 rs483352909 GRCh37: 12:133250250-133250250
GRCh38: 12:132673664-132673664
2 POLE NM_006231.3(POLE):c.4444+3A>G SNV Pathogenic 41417 rs398122515 GRCh37: 12:133219990-133219990
GRCh38: 12:132643404-132643404
3 POLE NM_006231.3(POLE):c.5867A>T (p.Glu1956Val) SNV Likely pathogenic 547165 rs780843358 GRCh37: 12:133210909-133210909
GRCh38: 12:132634323-132634323
4 POLE NM_006231.3(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.6730C>T (p.Leu2244Phe) SNV Uncertain significance 240616 rs375741031 GRCh37: 12:133201508-133201508
GRCh38: 12:132624922-132624922
6 POLE NM_006231.3(POLE):c.6476G>A (p.Arg2159His) SNV Uncertain significance 240596 rs373092830 GRCh37: 12:133202758-133202758
GRCh38: 12:132626172-132626172
7 POLE NM_006231.3(POLE):c.2359G>A (p.Asp787Asn) SNV Uncertain significance 240433 rs878854851 GRCh37: 12:133241997-133241997
GRCh38: 12:132665411-132665411
8 POLE NM_006231.3(POLE):c.2131T>C (p.Ser711Pro) SNV Uncertain significance 405853 rs374800058 GRCh37: 12:133244984-133244984
GRCh38: 12:132668398-132668398
9 POLE NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) SNV Uncertain significance 240374 rs141396559 GRCh37: 12:133252363-133252363
GRCh38: 12:132675777-132675777
10 POLE NM_006231.3(POLE):c.431A>G (p.His144Arg) SNV Uncertain significance 405687 rs755709875 GRCh37: 12:133256230-133256230
GRCh38: 12:132679644-132679644
11 POLE NM_006231.4(POLE):c.154C>T (p.Arg52Trp) SNV Uncertain significance 240396 rs115452881 GRCh37: 12:133257774-133257774
GRCh38: 12:132681188-132681188
12 POLE NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) SNV Uncertain significance 403334 rs748522633 GRCh37: 12:133219884-133219884
GRCh38: 12:132643298-132643298
13 POLE NM_006231.3(POLE):c.4285A>T (p.Thr1429Ser) SNV Uncertain significance 405827 rs759497382 GRCh37: 12:133220428-133220428
GRCh38: 12:132643842-132643842
14 POLE NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) SNV Uncertain significance 246358 rs149145495 GRCh37: 12:133220541-133220541
GRCh38: 12:132643955-132643955
15 POLE NM_006231.3(POLE):c.4145G>A (p.Arg1382His) SNV Uncertain significance 405766 rs143229302 GRCh37: 12:133225519-133225519
GRCh38: 12:132648933-132648933
16 POLE NM_006231.3(POLE):c.3857G>A (p.Arg1286His) SNV Uncertain significance 405702 rs771823596 GRCh37: 12:133226040-133226040
GRCh38: 12:132649454-132649454
17 POLE NM_006231.3(POLE):c.3230G>A (p.Arg1077His) SNV Uncertain significance 246318 rs768950975 GRCh37: 12:133235926-133235926
GRCh38: 12:132659340-132659340
18 POLE NM_006231.3(POLE):c.6136G>A (p.Gly2046Arg) SNV Uncertain significance 540694 rs1462887616 GRCh37: 12:133209250-133209250
GRCh38: 12:132632664-132632664
19 POLE NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) SNV Uncertain significance 405621 rs770024304 GRCh37: 12:133225574-133225574
GRCh38: 12:132648988-132648988
20 POLE NM_006231.3(POLE):c.198G>A (p.Met66Ile) SNV Uncertain significance 540773 rs764962999 GRCh37: 12:133257730-133257730
GRCh38: 12:132681144-132681144
21 POLE NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) SNV Uncertain significance 265355 rs201115064 GRCh37: 12:133240613-133240613
GRCh38: 12:132664027-132664027
22 POLE NM_006231.3(POLE):c.2510T>C (p.Phe837Ser) SNV Uncertain significance 405863 rs139182500 GRCh37: 12:133241007-133241007
GRCh38: 12:132664421-132664421
23 POLE NM_006231.4(POLE):c.5914G>C (p.Val1972Leu) SNV Uncertain significance 937359 GRCh37: 12:133210862-133210862
GRCh38: 12:132634276-132634276
24 POLE NM_006231.3(POLE):c.2276G>A (p.Arg759His) SNV Uncertain significance 240431 rs746774432 GRCh37: 12:133244132-133244132
GRCh38: 12:132667546-132667546
25 POLE NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) SNV Uncertain significance 423238 rs576578672 GRCh37: 12:133252102-133252102
GRCh38: 12:132675516-132675516
26 POLE NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) SNV Uncertain significance 240556 rs368364666 GRCh37: 12:133215881-133215881
GRCh38: 12:132639295-132639295
27 POLE NM_006231.3(POLE):c.4901G>A (p.Arg1634His) SNV Uncertain significance 240545 rs760149463 GRCh37: 12:133219143-133219143
GRCh38: 12:132642557-132642557
28 POLE NM_006231.3(POLE):c.4246G>A (p.Ala1416Thr) SNV Uncertain significance 240508 rs146711942 GRCh37: 12:133220467-133220467
GRCh38: 12:132643881-132643881
29 POLE NM_006231.4(POLE):c.6674G>A (p.Arg2225His) SNV Uncertain significance 240612 rs538875477 GRCh37: 12:133201564-133201564
GRCh38: 12:132624978-132624978
30 POLE NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) SNV Uncertain significance 405654 rs36120395 GRCh37: 12:133245025-133245025
GRCh38: 12:132668439-132668439
31 POLE NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) SNV Uncertain significance 221157 rs150564856 GRCh37: 12:133245452-133245452
GRCh38: 12:132668866-132668866
32 POLE NM_006231.3(POLE):c.1041G>T (p.Trp347Cys) SNV Uncertain significance 484505 rs1048183984 GRCh37: 12:133252386-133252386
GRCh38: 12:132675800-132675800
33 POLE NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys) SNV Uncertain significance 405680 rs749992643 GRCh37: 12:133210910-133210910
GRCh38: 12:132634324-132634324
34 POLE NM_006231.3(POLE):c.5035C>T (p.Arg1679Cys) SNV Uncertain significance 405795 rs768244569 GRCh37: 12:133218901-133218901
GRCh38: 12:132642315-132642315
35 POLE NM_006231.3(POLE):c.6068C>A (p.Thr2023Asn) SNV Uncertain significance 619906 rs771628123 GRCh37: 12:133209318-133209318
GRCh38: 12:132632732-132632732
36 POLE NM_006231.3(POLE):c.2054G>A (p.Arg685Gln) SNV Uncertain significance 405623 rs770597683 GRCh37: 12:133245061-133245061
GRCh38: 12:132668475-132668475
37 POLE NM_006231.4(POLE):c.1534G>A (p.Ala512Thr) SNV Uncertain significance 405691 rs113998091 GRCh37: 12:133249365-133249365
GRCh38: 12:132672779-132672779
38 POLE NM_006231.3(POLE):c.2362G>A (p.Ala788Thr) SNV Uncertain significance 473524 rs896350761 GRCh37: 12:133241994-133241994
GRCh38: 12:132665408-132665408
39 POLE NM_006231.3(POLE):c.3311C>T (p.Thr1104Met) SNV Uncertain significance 405803 rs531705054 GRCh37: 12:133234521-133234521
GRCh38: 12:132657935-132657935
40 POLE NM_006231.3(POLE):c.4730A>C (p.Glu1577Ala) SNV Uncertain significance 240537 rs5744948 GRCh37: 12:133219314-133219314
GRCh38: 12:132642728-132642728
41 POLE NM_006231.3(POLE):c.2113C>T (p.Arg705Trp) SNV Uncertain significance 540760 rs200621883 GRCh37: 12:133245002-133245002
GRCh38: 12:132668416-132668416
42 POLE NM_006231.3(POLE):c.274A>C (p.Ser92Arg) SNV Uncertain significance 240443 rs758382516 GRCh37: 12:133257204-133257204
GRCh38: 12:132680618-132680618
43 POLE NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys) SNV Uncertain significance 405704 rs771490182 GRCh37: 12:133202789-133202789
GRCh38: 12:132626203-132626203
44 POLE NM_006231.3(POLE):c.6050G>A (p.Arg2017His) SNV Uncertain significance 240582 rs144178150 GRCh37: 12:133209336-133209336
GRCh38: 12:132632750-132632750
45 POLE NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) SNV Uncertain significance 405854 rs771980261 GRCh37: 12:133212528-133212528
GRCh38: 12:132635942-132635942
46 POLE NM_006231.3(POLE):c.4759G>A (p.Val1587Ile) SNV Uncertain significance 473692 rs372388555 GRCh37: 12:133219285-133219285
GRCh38: 12:132642699-132642699
47 POLE NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) SNV Uncertain significance 240530 rs138564205 GRCh37: 12:133219531-133219531
GRCh38: 12:132642945-132642945
48 POLE NM_006231.3(POLE):c.2384A>G (p.Lys795Arg) SNV Uncertain significance 540644 rs867677414 GRCh37: 12:133241972-133241972
GRCh38: 12:132665386-132665386
49 POLE NM_006231.3(POLE):c.1784A>G (p.Asn595Ser) SNV Uncertain significance 540799 rs969500436 GRCh37: 12:133248811-133248811
GRCh38: 12:132672225-132672225
50 POLE NM_006231.3(POLE):c.575C>T (p.Ser192Phe) SNV Uncertain significance 405901 rs1060500891 GRCh37: 12:133256086-133256086
GRCh38: 12:132679500-132679500

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

Pathways related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature according to KEGG:

36
# Name Kegg Source Accession
1 DNA replication hsa03030
2 Base excision repair hsa03410
3 Nucleotide excision repair hsa03420

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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