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 57 73
Angiolipoma Microthromboticum 57
Familial Angiolipomatosis 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
angiolipomatosis, familial:
Onset and clinical course young adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 206550
Orphanet 59 ORPHA199279
UMLS via Orphanet 74 C1859784
ICD10 via Orphanet 34 D17.9
MedGen 42 C1859784
SNOMED-CT via HPO 69 258211005
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Limbs:
subcutaneous tumors at wrists, knees and ankles
bone deformity near affected joints

Misc:
early adult onset


Clinical features from OMIM:

206550

Human phenotypes related to Angiolipomatosis, Familial:

32
# Description HPO Frequency HPO Source Accession
1 cutaneous angiolipomas 32 HP:0006773

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:

41
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 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
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