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CIL-F
MCID: FCL087
MIFTS: 17

Facial Infiltrating Lipomatosis (CIL-F)

Categories: Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications
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Aliases & Classifications for Facial Infiltrating Lipomatosis

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MalaCards integrated aliases for Facial Infiltrating Lipomatosis:

Name: Facial Infiltrating Lipomatosis 20
Congenital Infiltrating Lipomatosis of the Face 20 58
Fibroadipose Infiltrating Lipomatosis 58
Facial Infused Lipomatosis 58
Cil-F 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA583097
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Summaries for Facial Infiltrating Lipomatosis

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MalaCards based summary : Facial Infiltrating Lipomatosis, also known as congenital infiltrating lipomatosis of the face, is related to pik3ca-related overgrowth spectrum and hemifacial hyperplasia. An important gene associated with Facial Infiltrating Lipomatosis is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include cerebellum and pituitary.

Wikipedia : 73 Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the... more...

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Related Diseases for Facial Infiltrating Lipomatosis

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Diseases related to Facial Infiltrating Lipomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 pik3ca-related overgrowth spectrum 11.2
2 hemifacial hyperplasia 10.5
3 ankylosis 10.4
4 lipomatosis 10.4
5 overgrowth syndrome 10.4
6 lipomatosis, multiple 10.3
7 hemihyperplasia, isolated 10.3
8 pleomorphic lipoma 10.3
9 macrocephaly/megalencephaly syndrome, autosomal recessive 10.2
10 band heterotopia 10.2
11 alacrima, achalasia, and mental retardation syndrome 10.2
12 human cytomegalovirus infection 10.2
13 hemiplegia 10.2
14 liposarcoma 10.2
15 infiltrating angiolipoma 10.2
16 angiolipoma 10.2
17 well-differentiated liposarcoma 10.2
18 infiltrating lipoma 10.2
19 cleft lip 10.2
20 congenital cytomegalovirus 10.2
21 temporomandibular ankylosis 10.2
22 angiomatosis 10.2
23 megalencephaly 10.2
24 cleft lip/palate 10.2
25 pik3ca-related overgrowth syndrome 10.2
26 klippel-trenaunay-weber syndrome 10.0
27 macroglossia 10.0
28 macrodactyly 10.0
29 multiple endocrine neoplasia, type iib 10.0
30 proteus syndrome 10.0
31 neuroma 10.0
32 multiple endocrine neoplasia 10.0
33 cowden syndrome 10.0
34 hemimegalencephaly 10.0

Graphical network of the top 20 diseases related to Facial Infiltrating Lipomatosis:



Diseases related to Facial Infiltrating Lipomatosis
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Symptoms & Phenotypes for Facial Infiltrating Lipomatosis

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Drugs & Therapeutics for Facial Infiltrating Lipomatosis

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Search Clinical Trials , NIH Clinical Center for Facial Infiltrating Lipomatosis

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Genetic Tests for Facial Infiltrating Lipomatosis

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Anatomical Context for Facial Infiltrating Lipomatosis

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MalaCards organs/tissues related to Facial Infiltrating Lipomatosis:

40
Cerebellum, Pituitary
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Publications for Facial Infiltrating Lipomatosis

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Articles related to Facial Infiltrating Lipomatosis:

(show all 48)
# Title Authors PMID Year
1
Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome. 61
33639990 2021
2
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation. 61
32770747 2020
3
Mask Induction for an Intellectually Disabled Patient With Congenital Infiltrating Lipomatosis of the Face. 61
32633775 2020
4
Congenital infiltrating lipomatosis of the face with temporomandibular joint ankylosis. 61
33041589 2020
5
Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia. 61
31280031 2019
6
[Congenital infiltrating lipomatosis of face with seizures: a case report]. 61
30854831 2019
7
Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach. 61
29128477 2018
8
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review. 61
28846548 2018
9
Congenital infiltrating lipomatosis of the face with hyperplastic mandibular, maxillary and pterygoid bones: case report and a review of literature. 61
30271223 2018
10
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. 61
28665924 2017
11
Could congenital infiltrating lipomatosis of the face have an anatomic explanation: Lipomatosis of the trigeminal nerve and nerve-territory overgrowth? 61
28112823 2017
12
Lipomatous tumours of the face in infants: diagnosis and treatment. 61
25857338 2015
13
Syndromic lipomatosis of the head and neck: a review of the literature. 61
25860506 2015
14
Congenital infiltrating lipomatosis of face: case report and review of literature. 61
25872637 2015
15
Hemimegalencephaly with Facial Congenital Infiltrating Lipomatosis in a Child. 61
26171364 2014
16
Congenital infiltrating lipomatosis of the face: A case report with review of literature. 61
25165649 2014
17
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1. 61
24311370 2014
18
PIK3CA activating mutations in facial infiltrating lipomatosis. 61
24374682 2014
19
[Congenital hemifacially infiltrating lipomatosis]. 61
24629156 2013
20
Tooth abnormalities in congenital infiltrating lipomatosis of the face. 61
23021924 2013
21
Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature. 61
22241871 2013
22
Genetics of neural crest and neurocutaneous syndromes. 61
23622181 2013
23
Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature. 61
22425497 2012
24
Hemimegalencephaly associated with congenital infiltrating lipomatosis of the face: a case report. 61
22991064 2012
25
Congenital infiltrating lipomatosis of the face: recognition and pathogenesis. 61
23129437 2012
26
Congenital infiltrating lipomatosis of the face: a case report. 61
22606525 2012
27
Facial infiltrating lipomatosis: expression of angiogenic and vasculogenic factors. 61
22134293 2011
28
Facial infiltrating lipomatosis: A case report and review of literature. 61
22096727 2011
29
Congenital infiltrating lipomatosis of the face: report of three cases and review of the literature. 61
20338773 2010
30
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. 61
20859836 2010
31
Facial infiltrating lipomatosis: physical, radiological, and histopathological findings. 61
20231652 2010
32
Congenital infiltrating lipomatosis. 61
19124289 2009
33
Congenital infiltrating lipomatosis of the face with hemimegalencephaly. 61
20020401 2009
34
Case Report: Congenital infiltrating lipomatosis of face. 61
19774187 2008
35
Congenital infiltrating lipomatosis of the face and neck. 61
15515519 2004
36
Congenital infiltrating lipomatosis of the face: case report and literature review. 61
12022741 2002
37
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly. 61
11819077 2002
38
Facial infiltrating lipomatosis. 61
11711926 2001
39
Congenital infiltrating lipomatosis of the face: case report. 61
10883699 2000
40
Congenital infiltrating lipomatosis of the face with cerebral abnormalities. 61
11044934 2000
41
Congenital infiltrating lipomatosis of the face. 61
10686886 1999
42
[Congenital infiltrating lipomatosis of the face. Presentation of a new clinical case]. 61
9697242 1998
43
Congenital infiltrating lipomatosis of the face. 61
2018908 1991
44
Regional macrodontia and regional bony enlargement associated with congenital infiltrating lipomatosis of the face presenting as unilateral facial hyperplasia. Brief review and case report. 61
2124599 1990
45
Congenital infiltrating lipomatosis of the face related to cytomegalovirus infection. 61
2155681 1990
46
Liposuction for congenital infiltrating lipomatosis of the face. 61
3375369 1988
47
Congenital infiltrating lipomatosis of the face: report of cases and review of the literature. 61
3309227 1987
48
Congenital infiltrating lipomatosis of the face: clinicopathologic evaluation and treatment. 61
6192455 1983
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Variations for Facial Infiltrating Lipomatosis

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Expression for Facial Infiltrating Lipomatosis

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Search GEO for disease gene expression data for Facial Infiltrating Lipomatosis.
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Pathways for Facial Infiltrating Lipomatosis

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GO Terms for Facial Infiltrating Lipomatosis

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Sources for Facial Infiltrating Lipomatosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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