MCID: GLP001
MIFTS: 41

Geleophysic Dysplasia malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Geleophysic Dysplasia

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Sources:
21Genetics Home Reference, 19GeneReviews, 33MalaCards
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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 acromicric dysplasia, is related to geleophysic dysplasia 1 and geleophysic dysplasia 2. An important gene associated with Geleophysic Dysplasia is FBN1 (fibrillin 1), and among its related pathways are Integrated Pancreatic Cancer Pathway and NF-KappaB Family Pathway. The compounds chondroitin sulfate and hydroxyproline have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

GeneReviews summary for geleophys-dysp

Aliases & Classifications for Geleophysic Dysplasia

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19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

geleophysic dysplasia 19 20 22 21
acromicric dysplasia 62
geleophysic dwarfism 21


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

Symptoms for Geleophysic Dysplasia

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Drugs & Therapeutics for Geleophysic Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Geleophysic Dysplasia

Search NIH Clinical Center for Geleophysic Dysplasia

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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33MalaCards
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MalaCards organs/tissues related to Geleophysic Dysplasia:

33
Eye, Bone, Heart, Liver, Skin, Trachea

Animal Models for Geleophysic Dysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0FBN2, FBN1, LTBP1
2MP:00053758.9FBN1, TGFB1, LTBP1
3MP:00053828.7LTBP1, TGFB1, FBN1
4MP:00053678.6LTBP1, TGFB1, FBN1
5MP:00053888.3FBN2, FBN1, TGFB1
6MP:00053698.3LTBP1, TGFB1, FBN1, FBN2
7MP:00053858.2LTBP1, TGFB1, FBN1, FBN2
8MP:00053788.1LTBP1, TGFB1, FBN1, FBN2

Publications for Geleophysic Dysplasia

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52PubMed
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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

Variations for Geleophysic Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Geleophysic Dysplasia:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1FBN1NM_000138.4(FBN1): c.5096A> G (p.Tyr1699Cys)single nucleotide variantPathogenicrs387906622GRCh37Chr 15, 48755407: 48755407
2FBN1NM_000138.4(FBN1): c.5182G> A (p.Ala1728Thr)single nucleotide variantPathogenicrs387906624GRCh37Chr 15, 48755321: 48755321
3FBN1NM_000138.4(FBN1): c.5099A> G (p.Tyr1700Cys)single nucleotide variantPathogenicrs387906626GRCh37Chr 15, 48755404: 48755404
4FBN1NM_000138.4(FBN1): c.5202_5204dupACA (p.Gln1735_Cys1736insGln)duplicationPathogenicGRCh38Chr 15, 48463102: 48463104
5ADAMTSL2NM_001145320.1(ADAMTSL2): c.215G> A (p.Arg72Gln)single nucleotide variantPathogenicrs387907064GRCh37Chr 9, 136402651: 136402651
6ADAMTSL2NM_001145320.1(ADAMTSL2): c.661C> T (p.Arg221Cys)single nucleotide variantPathogenicrs387907065GRCh37Chr 9, 136406102: 136406102
7ADAMTSL2NM_001145320.1(ADAMTSL2): c.440C> T (p.Pro147Leu)single nucleotide variantPathogenicrs113994121GRCh37Chr 9, 136405747: 136405747
8ADAMTSL2NM_001145320.1(ADAMTSL2): c.338G> A (p.Arg113His)single nucleotide variantPathogenicrs113994122GRCh37Chr 9, 136404921: 136404921
9ADAMTSL2NM_001145320.1(ADAMTSL2): c.340G> A (p.Glu114Lys)single nucleotide variantPathogenicrs113994123GRCh37Chr 9, 136404923: 136404923
10ADAMTSL2NM_001145320.1(ADAMTSL2): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs113994124GRCh37Chr 9, 136435468: 136435468
11ADAMTSL2NM_001145320.1(ADAMTSL2): c.2586G> A (p.Trp862Ter)single nucleotide variantPathogenicrs113994125GRCh37Chr 9, 136435623: 136435623

Expression for genes affiliated with Geleophysic Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for genes affiliated with Geleophysic Dysplasia

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50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 57SinoBiological, 30KEGG, 55Reactome
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Compounds for genes affiliated with Geleophysic Dysplasia

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate45 2410.5FBN1, LTBP1
2hydroxyproline45 24 1111.3TGFB1, FBN1
3hyaluronic acid45 2410.1TGFB1, FBN1
4proline459.0LTBP1, FBN1, FBN2
5cysteine458.9LTBP1, FBN1, FBN2
6tgf beta1458.9LTBP1, TGFB1, FBN1
7estrogen458.4LTBP1, TGFB1, 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:0310129.5LTBP1, FBN1
2microfibrilGO:0015279.3FBN2, FBN1
3extracellular regionGO:0055767.8LTBP1, TGFB1, FBN1, FBN2
4proteinaceous extracellular matrixGO:0055787.6LTBP1, ADAMTSL2, TGFB1, FBN1, FBN2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:0226179.4FBN1, FBN2
2sequestering of TGFbeta in extracellular matrixGO:0355839.0LTBP1, FBN1, FBN2
3positive regulation of bone mineralizationGO:0305018.9TGFB1, FBN2
4negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305128.9ADAMTSL2, TGFB1
5extracellular matrix organizationGO:0301988.1FBN2, FBN1, TGFB1, LTBP1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.1FBN1, FBN2
2calcium ion bindingGO:0055098.9LTBP1, FBN1, FBN2

Products for genes affiliated with Geleophysic Dysplasia

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  • Antibodies
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Sources for Geleophysic Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet