MCID: FCL087
MIFTS: 14

Facial Infiltrating Lipomatosis

Categories: Rare diseases

Aliases & Classifications for Facial Infiltrating Lipomatosis

MalaCards integrated aliases for Facial Infiltrating Lipomatosis:

Name: Facial Infiltrating Lipomatosis 53
Congenital Infiltrating Lipomatosis of the Face 53

Classifications:



Summaries for Facial Infiltrating Lipomatosis

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

Related Diseases for Facial Infiltrating Lipomatosis

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

# Related Disease Score Top Affiliating Genes
1 pik3ca-related overgrowth spectrum 11.3
2 lipomatosis 10.4
3 hemimegalencephaly 10.3
4 band heterotopia 10.0
5 ankylosis 10.0
6 cytomegalovirus infection 10.0

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



Diseases related to Facial Infiltrating Lipomatosis

Symptoms & Phenotypes for Facial Infiltrating Lipomatosis

Drugs & Therapeutics for Facial Infiltrating Lipomatosis

Search Clinical Trials , NIH Clinical Center for Facial Infiltrating Lipomatosis

Genetic Tests for Facial Infiltrating Lipomatosis

Anatomical Context for Facial Infiltrating Lipomatosis

MalaCards organs/tissues related to Facial Infiltrating Lipomatosis:

41
Bone, Pituitary, Cerebellum

Publications for Facial Infiltrating Lipomatosis

Articles related to Facial Infiltrating Lipomatosis:

(show all 34)
# Title Authors Year
1
Congenital infiltrating lipomatosis of the face with hyperplastic mandibular, maxillary and pterygoid bones: case report and a review of literature. ( 30271223 )
2018
2
Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis. ( 28665924 )
2017
3
Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach. ( 29128477 )
2017
4
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review. ( 28846548 )
2017
5
Could congenital infiltrating lipomatosis of the face have an anatomic explanation: Lipomatosis of the trigeminal nerve and nerve-territory overgrowth? ( 28112823 )
2017
6
Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues. ( 26397580 )
2015
7
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1. ( 24311370 )
2014
8
PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis. ( 24374682 )
2014
9
Congenital infiltrating lipomatosis of the face: A case report with review of literature. ( 25165649 )
2014
10
Congenital infiltrating lipomatosis of the face with exophytic temporomandibular joint ankylosis: a case report and review of the literature. ( 22241871 )
2013
11
Tooth abnormalities in congenital infiltrating lipomatosis of the face. ( 23021924 )
2013
12
Congenital infiltrating lipomatosis of the face: a case report. ( 22606525 )
2012
13
Hemimegalencephaly associated with congenital infiltrating lipomatosis of the face: a case report. ( 22991064 )
2012
14
Congenital infiltrating lipomatosis of the face: recognition and pathogenesis. ( 23129437 )
2012
15
Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature. ( 22425497 )
2012
16
Facial infiltrating lipomatosis: A case report and review of literature. ( 22096727 )
2011
17
Facial infiltrating lipomatosis: expression of angiogenic and vasculogenic factors. ( 22134293 )
2011
18
Congenital infiltrating lipomatosis of the face: report of three cases and review of the literature. ( 20338773 )
2010
19
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum. ( 20859836 )
2010
20
Facial infiltrating lipomatosis: physical, radiological, and histopathological findings. ( 20231652 )
2010
21
Congenital infiltrating lipomatosis of the face with hemimegalencephaly. ( 20020401 )
2009
22
Congenital infiltrating lipomatosis of the face and neck. ( 15515519 )
2004
23
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly. ( 11819077 )
2002
24
Congenital infiltrating lipomatosis of the face: case report and literature review. ( 12022741 )
2002
25
Facial infiltrating lipomatosis. ( 11711926 )
2001
26
Congenital infiltrating lipomatosis of the face: case report. ( 10883699 )
2000
27
Congenital infiltrating lipomatosis of the face with cerebral abnormalities. ( 11044934 )
2000
28
Congenital infiltrating lipomatosis of the face. ( 10686886 )
1999
29
Congenital infiltrating lipomatosis of the face. ( 2018908 )
1991
30
Regional macrodontia and regional bony enlargement associated with congenital infiltrating lipomatosis of the face presenting as unilateral facial hyperplasia. Brief review and case report. ( 2124599 )
1990
31
Congenital infiltrating lipomatosis of the face related to cytomegalovirus infection. ( 2155681 )
1990
32
Liposuction for congenital infiltrating lipomatosis of the face. ( 3375369 )
1988
33
Congenital infiltrating lipomatosis of the face: report of cases and review of the literature. ( 3309227 )
1987
34
Congenital infiltrating lipomatosis of the face: clinicopathologic evaluation and treatment. ( 6192455 )
1983

Variations for Facial Infiltrating Lipomatosis

Expression for Facial Infiltrating Lipomatosis

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

Pathways for Facial Infiltrating Lipomatosis

GO Terms for Facial Infiltrating Lipomatosis

Sources for Facial Infiltrating Lipomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....