MCID: INV014
MIFTS: 11

Inverse Klippel-Trenaunay Syndrome

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Inverse Klippel-Trenaunay Syndrome

MalaCards integrated aliases for Inverse Klippel-Trenaunay Syndrome:

Name: Inverse Klippel-Trenaunay Syndrome 58
Cutaneous Hemangioma with Muscle or Bone Atrophy 58

Characteristics:

Orphanet epidemiological data:

58
inverse klippel-trenaunay syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q87.2
Orphanet 58 ORPHA329324

Summaries for Inverse Klippel-Trenaunay Syndrome

MalaCards based summary : Inverse Klippel-Trenaunay Syndrome, also known as cutaneous hemangioma with muscle or bone atrophy, is related to klippel-trenaunay-weber syndrome and overgrowth syndrome. Affiliated tissues include bone.

Related Diseases for Inverse Klippel-Trenaunay Syndrome

Diseases related to Inverse Klippel-Trenaunay Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 klippel-trenaunay-weber syndrome 10.5
2 overgrowth syndrome 10.3
3 sturge-weber syndrome 10.2
4 phacomatosis pigmentovascularis 10.2
5 weber syndrome 10.2

Graphical network of the top 20 diseases related to Inverse Klippel-Trenaunay Syndrome:



Diseases related to Inverse Klippel-Trenaunay Syndrome

Symptoms & Phenotypes for Inverse Klippel-Trenaunay Syndrome

Drugs & Therapeutics for Inverse Klippel-Trenaunay Syndrome

Search Clinical Trials , NIH Clinical Center for Inverse Klippel-Trenaunay Syndrome

Genetic Tests for Inverse Klippel-Trenaunay Syndrome

Anatomical Context for Inverse Klippel-Trenaunay Syndrome

MalaCards organs/tissues related to Inverse Klippel-Trenaunay Syndrome:

40
Bone

Publications for Inverse Klippel-Trenaunay Syndrome

Articles related to Inverse Klippel-Trenaunay Syndrome:

# Title Authors PMID Year
1
A rare case of phakomatosis pigmentovascularis type IIb associated with inverse Klippel-Trenaunay syndrome and Sturge-Weber syndrome. 61
31571612 2019
2
A case of an inverse Klippel-Trenaunay Syndrome. 61
29050451 2017
3
Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth. 61
24478251 2014
4
Mild form of inverse Klippel-Trenaunay syndrome? 61
23595189 2013
5
Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome? 61
23000147 2012
6
Inverse Klippel-Trenaunay syndrome: review of cases showing deficient growth. 61
17341861 2007

Variations for Inverse Klippel-Trenaunay Syndrome

Expression for Inverse Klippel-Trenaunay Syndrome

Search GEO for disease gene expression data for Inverse Klippel-Trenaunay Syndrome.

Pathways for Inverse Klippel-Trenaunay Syndrome

GO Terms for Inverse Klippel-Trenaunay Syndrome

Sources for Inverse Klippel-Trenaunay Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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