MCID: GLP001
MIFTS: 37

Geleophysic Dysplasia malady

Summaries for Geleophysic Dysplasia

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21Genetics Home Reference, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.

MalaCards: Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to weill-marchesani syndrome and glaucoma. An important gene associated with Geleophysic Dysplasia is FBN1 (fibrillin 1), and among its related pathways are TGF-beta signaling pathway and TGF Beta Signaling Pathway. The compounds hyaluronic acid and chondroitin sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are limbs/digits/tail and muscle.

GeneReviews summary for geleophys-dysp

Aliases & Classifications for Geleophysic Dysplasia

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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS
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Aliases & Descriptions:

geleophysic dysplasia 19 20 22 21
geleophysic dwarfism 21
acromicric dysplasia 60


Related Diseases for Geleophysic Dysplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Geleophysic Dysplasia:



Diseases related to geleophysic dysplasia

Clinical Features for Geleophysic Dysplasia

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Drugs & Therapeutics for Geleophysic Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Geleophysic Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Geleophysic Dysplasia:

id Genetic test Affiliating Genes
1 Geleophysic Dysplasia20 22 FBN1

Anatomical Context for Geleophysic Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Geleophysic Dysplasia:

32
Bone, Heart, Skin, Eye, Liver, Trachea

Animal Models for Geleophysic Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9LTBP1, FBN2, FBN1
2MP:00053698.7TGFB1, FBN2, FBN1
3MP:00053758.5TGFB1, LTBP1, FBN1
4MP:00053857.8FBN1, FBN2, LTBP1, TGFB1

Publications for Geleophysic Dysplasia

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50PubMed
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Articles related to Geleophysic Dysplasia:

(show all 32)
idTitleAuthorsYear
1
Novel mutations in geleophysic dysplasia. (24251637)
2013
2
Geleophysic dysplasia associated with bilateral angle closure glaucoma. (23514648)
2013
3
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. (24192049)
2013
4
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. (23124041)
2013
5
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
6
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
7
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. (24014090)
2013
8
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
9
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (21683322)
2011
10
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (21415077)
2011
11
Clinical and morphological phenotype of geleophysic dysplasia. (18510828)
2008
12
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (18677313)
2008
13
Geleophysic dysplasia: a patient with a severe form of the disorder. (16368598)
2005
14
Natural history of cardiac involvement in geleophysic dysplasia. (15690380)
2005
15
Ocular findings in geleophysic dysplasia. (15088061)
2004
16
Perthes-like changes in geleophysic dysplasia. (11943981)
2002
17
Multiple trigger fingers associated with geleophysic dysplasia. (12136306)
2002
18
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. (10440835)
1999
19
Patients with geleophysic dysplasia are not always geleophysic. (9295082)
1997
20
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. (9399356)
1997
21
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
22
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. (8777926)
1996
23
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. (8723086)
1996
24
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. (8533820)
1995
25
Geleophysic Dysplasia (20301776)
1993
26
Geleophysic dysplasia: a further case. (2019943)
1991
27
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. (2380821)
1990
28
Geleophysic dysplasia. (2090119)
1990
29
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. (3130853)
1987
30
Geleophysic dysplasia. (6507495)
1984
31
Familial recurrence of geleophysic dysplasia. (6507494)
1984
32
Acrofacial dysplasia resembling geleophysic dysplasia. (6507496)
1984

Genetic Variations for Geleophysic Dysplasia

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Expression for genes affiliated with Geleophysic Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Geleophysic Dysplasia

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Pathways for genes affiliated with Geleophysic Dysplasia

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29KEGG, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Compounds for genes affiliated with Geleophysic Dysplasia

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hyaluronic acid44 2410.2TGFB1, FBN1
2chondroitin sulfate44 2410.1LTBP1, FBN1
3hydroxyproline44 11 2411.1FBN1, TGFB1
4proline448.9LTBP1, FBN2, FBN1
5tgf beta1448.6TGFB1, LTBP1, FBN1

GO Terms for genes affiliated with Geleophysic Dysplasia

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16Gene Ontology
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Cellular components related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.4LTBP1, FBN1
2microfibrilGO:0015279.4FBN1, FBN2
3extracellular regionGO:0055767.8TGFB1, LTBP1, FBN2, FBN1
4proteinaceous extracellular matrixGO:0055787.5TGFB1, ADAMTSL2, LTBP1, FBN2, FBN1

Biological processes related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.1TGFB1, ADAMTSL2
2sequestering of TGFbeta in extracellular matrixGO:0355838.9LTBP1, FBN2, FBN1
3positive regulation of bone mineralizationGO:0305018.8TGFB1, FBN2
4extracellular matrix organizationGO:0301988.0FBN1, FBN2, LTBP1, TGFB1

Molecular functions related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.2FBN2, FBN1
2calcium ion bindingGO:0055098.9LTBP1, FBN2, FBN1

Products for genes affiliated with Geleophysic Dysplasia

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Sources for Geleophysic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet