MCID: ANG063
MIFTS: 16

Angiolipomatosis, Familial

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Angiolipomatosis, Familial

MalaCards integrated aliases for Angiolipomatosis, Familial:

Name: Angiolipomatosis, Familial 58 74
Angiolipoma Microthromboticum 58
Familial Angiolipomatosis 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
angiolipomatosis, familial:
Onset and clinical course young adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 206550
ICD10 via Orphanet 35 D17.9
UMLS via Orphanet 75 C1859784
Orphanet 60 ORPHA199279
MedGen 43 C1859784
SNOMED-CT via HPO 70 258211005
UMLS 74 C1859784

Summaries for Angiolipomatosis, Familial

MalaCards based summary : Angiolipomatosis, Familial, is also known as angiolipoma microthromboticum. Affiliated tissues include skin and bone, and related phenotype is cutaneous angiolipomas.

Description from OMIM: 206550

Related Diseases for Angiolipomatosis, Familial

Symptoms & Phenotypes for Angiolipomatosis, Familial

Human phenotypes related to Angiolipomatosis, Familial:

33
# Description HPO Frequency HPO Source Accession
1 cutaneous angiolipomas 33 HP:0006773

Symptoms via clinical synopsis from OMIM:

58
Limbs:
subcutaneous tumors at wrists, knees and ankles
bone deformity near affected joints

Misc:
early adult onset

Clinical features from OMIM:

206550

Drugs & Therapeutics for Angiolipomatosis, Familial

Search Clinical Trials , NIH Clinical Center for Angiolipomatosis, Familial

Genetic Tests for Angiolipomatosis, Familial

Anatomical Context for Angiolipomatosis, Familial

MalaCards organs/tissues related to Angiolipomatosis, Familial:

42
Skin, Bone

Publications for Angiolipomatosis, Familial

Articles related to Angiolipomatosis, Familial:

# Title Authors Year
1
Autosomal-dominant familial angiolipomatosis. ( 25671454 )
2015
2
A case of familial angiolipomatosis with Lisch nodules. ( 10506451 )
1999
3
Autosomal dominant familial angiolipomatosis clinically mimicking neurofibromatosis. ( 2518515 )
1989
4
Autosomal dominant inheritance in familial angiolipomatosis. ( 2706802 )
1989
5
Multiple familial angiolipomatosis: treatment of liposuction. ( 3358622 )
1988
6
Familial angiolipomatosis. ( 7363507 )
1980

Variations for Angiolipomatosis, Familial

Expression for Angiolipomatosis, Familial

Search GEO for disease gene expression data for Angiolipomatosis, Familial.

Pathways for Angiolipomatosis, Familial

GO Terms for Angiolipomatosis, Familial

Sources for Angiolipomatosis, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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