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 ⁷⁵ ²⁹ ⁶ ⁷³

Fils Syndrome ⁵⁷ ⁵⁹ ⁷⁵ ¹³

Livedo Reticularis ⁴⁴ ⁷³

Fils ⁵⁷ ⁷⁵

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome ⁵⁹

Cutis Marmorata ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Developmental anomalies during embryogenesis

Rare immunological diseases

External Ids:

OMIM ⁵⁷ 615139

Orphanet ⁵⁹ ORPHA352712

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C3554576 CN168278

MeSH ⁴⁴ D006130 D007153 D019066 more

SNOMED-CT via HPO ⁶⁹ 258211005 248200007 32003007 more

UMLS ⁷³ C3554576 C0085642 C0263401

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

UniProtKB/Swiss-Prot : ⁷⁵ Facial dysmorphism, immunodeficiency, livedo, and short stature: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood.

MalaCards based summary : Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to sneddon syndrome and livedoid vasculopathy, and has symptoms including flushing, icterus and pruritus. An important gene associated with Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include skin, bone and t cells, and related phenotypes are malar flattening and recurrent respiratory infections

OMIM : ⁵⁷ FILS syndrome is characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, immunodeficiency resulting in recurrent infections, and short stature (summary by Pachlopnik Schmid et al., 2012). (615139)

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

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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 62)

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

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

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
recurrent respiratory infections

Immunology:
immunodeficiency
decreased igm and igg2
lack of acquired antibodies
low memory b cells
low naive t cells
more

Head And Neck Head:
relative macrocephaly

Skin Nails Hair Skin:
livedo
telangiectasia on the cheeks

Growth Height:
short stature

Head And Neck Face:
broad forehead
malar hypoplasia

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

Clinical features from OMIM:

615139

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

³² (show all 9)

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

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

flushing, icterus, pruritus, skin manifestations

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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

Cochrane evidence based reviews: livedo reticularis

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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, and Short Stature ²⁹	POLE

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

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

⁴¹

Skin, Bone, T Cells, B Cells

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

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

#	Title	Authors	Year
1	Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome). ( 23230001 )	Pachlopnik Schmid J....de Saint Basile G.	2012

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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	PubmedIds
1	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	1399.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Summaries Variants (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:

⁶

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

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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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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia