Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Blood diseases Skin diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

Rare immunological diseases

External Ids:

OMIM® ⁵⁷ 615139

MeSH ⁴³ D006130 D007153 D019066 more

ICD10 via Orphanet ³² Q87.1

Orphanet ⁵⁸ ORPHA352712

MedGen ⁴⁰ C3554576 CN168278

SNOMED-CT via HPO ⁶⁹ 12295008 12584003 195708003 more

UMLS ⁷¹ C0085642 C0263401 C3554576

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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...

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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
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:

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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	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

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

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

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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

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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

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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	Pachlopnik Schmid J...de Saint Basile G	23230001	2012
2	A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. ⁵⁷	Thiffault I...Safina NP	25948378	2015
3	A phase variety of fluorinated ionic liquids: Molecular conformational and crystal polymorph. ⁶²	Abe H...Uruichi M	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	Kambayashi T...Katori Y	35428520	2022
5	Phenotypic continuum between POLE-related recessive disorders: A case report and literature review. ⁶²	Roberts ME...Juusola J	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	Kimura M...Wakabayashi H	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	Yoshimura Y...Bise T	36235857	2022
8	Polypharmacy and Its Association with Dysphagia and Malnutrition among Stroke Patients with Sarcopenia. ⁶²	Matsumoto A...Shiraishi A	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	Nishioka S...Onizuka S	36235767	2022
10	Unsupervised feature selection based on incremental forward iterative Laplacian score. ⁶²	Jiang J...Yang J	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	Ohmura SI...Naniwa T	35678075	2022
12	Development of the Sakiika transport test: A practical screening method for patients with oral-phase dysphagia. ⁶²	Nagashima K...Tamura F	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	Akazawa N...Moriyama H	35623846	2022
14	Disclosing the Potential of Fluorinated Ionic Liquids as Interferon-Alpha 2b Delivery Systems. ⁶²	Ferreira ML...Pereiro AB	35683707	2022
15	Association between postextubation dysphagia and physical function in survivors of critical illness: A retrospective study. ⁶²	Tanaka K...Kashiwagi H	35063194	2022
16	Effect of acupuncture on long-term outcomes in patients with post-stroke dysphagia. ⁶²	Yao L...Huang X	35871375	2022
17	Association between Inflammation and Functional Outcome in Patients with Sarcopenic Dysphagia. ⁶²	Mori T...Ogawa S	35450997	2022
18	Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome. ⁶²	Jiang L...Liu G	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	Akazawa N...Moriyama H	36215269	2022
20	Life Cycle Assessment of the Separation and Recycling of Fluorinated Gases Using Ionic Liquids in a Circular Economy Framework. ⁶²	Jovell D...Gonzalez-Olmos R	35036177	2022
21	Relationship Between Pneumonia and Dysphagia in Patients With Multiple System Atrophy. ⁶²	Wada A...Tsuji T	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	Taguchi K...Momosaki R	35587759	2022
23	Prevalence of Hoarseness and Its Association with Severity of Dysphagia in Patients with Sarcopenic Dysphagia. ⁶²	Wakabayashi H...Ogawa S	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	Bise T...Matsumoto A	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	Akazawa N...Moriyama H	34023301	2021
26	« Tu es l’un de mes fils, cher Fabrice, et je t’aime comme tel »…. ⁶²	Papillon F	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	Huang X...Xue Y	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	Akazawa N...Moriyama H	34246889	2021
29	Factors Affecting the Swallowing Dysfunction Following Oral Cancer Surgery. ⁶²	Kodama N...Orita Y	34743480	2021
30	Association of preoperative sarcopenia with postoperative dysphagia in patients with thoracic esophageal cancer. ⁶²	Mayanagi S...Kitagawa Y	33306782	2021
31	Improvement in Oral Health Enhances the Recovery of Activities of Daily Living and Dysphagia after Stroke. ⁶²	Shiraisi A...Shimazu S	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	Ogawa Y...Naganuma A	34191421	2021
33	Tracheoesophageal Diversion and Puncture for Preserving Phonation in Intractable Aspiration: A Case Series. ⁶²	Adachi K...Lee Y	33369756	2021
34	A Review on Ionic Liquids-Based Membranes for Middle and High Temperature Polymer Electrolyte Membrane Fuel Cells (PEM FCs). ⁶²	Ebrahimi M...Kujawa J	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	Oyola P...ASDEX Upgrade Team	34243424	2021
36	De père en fils. ⁶²	Hagbarth-Legree I	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	Akazawa N...Moriyama H	32917418	2021
38	COVID-19 Infection-Related Weight Loss Decreases Eating/Swallowing Function in Schizophrenic Patients. ⁶²	Kikutani T...Makino E	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	Yoshimura Y...Shiraishi A	33253988	2021
40	Nutritional Management Enhances the Recovery of Swallowing Ability in Older Patients with Sarcopenic Dysphagia. ⁶²	Shimizu A...The Japanese Working Group On Sarcopenic Dysphagia	33670314	2021
41	Construction and Quality Evaluation of the Japanese Sarcopenic Dysphagia Database. ⁶²	Mizuno S...Momosaki R	34409973	2021
42	Low Hemoglobin Levels are Associated with Sarcopenia, Dysphagia, and Adverse Rehabilitation Outcomes After Stroke. ⁶²	Yoshimura Y...Shiraishi A	33254381	2020
43	Chair-stand exercise improves post-stroke dysphagia. ⁶²	Yoshimura Y...Shiraishi A	32772455	2020
44	Shorter Interval between Onset and Admission to Convalescent Rehabilitation Wards Is Associated with Improved Outcomes in Ischemic Stroke Patients. ⁶²	Yoshimura Y...Shiraishi A	32848123	2020
45	Filling in the gaps on FILS syndrome: A case report and literature review. ⁶²	Eason C...Wine Lee L	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	Shimizu A...Fujishima I	31535216	2020
47	Tailor-Made Fluorinated Ionic Liquids for Protein Delivery. ⁶²	Vieira NSM...Pereiro AB	32823882	2020
48	Functionalized ionic liquids based on vegetable oils for rare earth elements recovery. ⁶²	Li F...Sun X	35515789	2020
49	Dysphagia is associated with poor physical function in patients with acute heart failure: a prospective cohort study. ⁶²	Matsuo H...Maeno Y	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	Uno C...Momosaki R	31837639	2020

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

Genes related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	1404.27	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	23230001

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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

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

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

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

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

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

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (FILS)

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

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

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:

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

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

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

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

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

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

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Genes related to Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (1 elite genes):

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

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

Expression 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