MCID: GLP001
MIFTS: 42

Geleophysic Dysplasia malady

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

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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 based summary: Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to geleophysic dysplasia 1 and geleophysic dysplasia 2. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS-like 2), 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 bone, heart and skin, 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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Geleophysic Dysplasia, Aliases & Descriptions:

Name: Geleophysic Dysplasia 19 20 22 21
 
Geleophysic Dwarfism 21


Classifications:

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


Related Diseases for Geleophysic Dysplasia

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Graphical network of 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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Drug clinical trials:

Search ClinicalTrials for Geleophysic Dysplasia

Search NIH Clinical Center for Geleophysic Dysplasia

Genetic Tests for Geleophysic Dysplasia

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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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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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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9FBN2, FBN1, LTBP1
2MP:00053758.8FBN1, TGFB1, LTBP1
3MP:00053828.7LTBP1, TGFB1, FBN1
4MP:00053678.6LTBP1, TGFB1, FBN1
5MP:00053888.3FBN2, FBN1, TGFB1
6MP:00053698.2LTBP1, TGFB1, FBN1, FBN2
7MP:00053858.2LTBP1, TGFB1, FBN1, FBN2
8MP:00053788.1LTBP1, TGFB1, FBN1, FBN2

Publications for Geleophysic Dysplasia

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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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Clinvar genetic disease variations for Geleophysic Dysplasia:

6
id Gene Name Type Significance SNP ID Assembly Location
1ADAMTSL2NM_001145320.1(ADAMTSL2): c.215G> A (p.Arg72Gln)single nucleotide variantPathogenicrs387907064GRCh37Chr 9, 136402651: 136402651
2ADAMTSL2NM_001145320.1(ADAMTSL2): c.661C> T (p.Arg221Cys)single nucleotide variantPathogenicrs387907065GRCh37Chr 9, 136406102: 136406102
3ADAMTSL2NM_001145320.1(ADAMTSL2): c.440C> T (p.Pro147Leu)single nucleotide variantPathogenicrs113994121GRCh37Chr 9, 136405747: 136405747
4ADAMTSL2NM_001145320.1(ADAMTSL2): c.338G> A (p.Arg113His)single nucleotide variantPathogenicrs113994122GRCh37Chr 9, 136404921: 136404921
5ADAMTSL2NM_001145320.1(ADAMTSL2): c.340G> A (p.Glu114Lys)single nucleotide variantPathogenicrs113994123GRCh37Chr 9, 136404923: 136404923
6ADAMTSL2NM_001145320.1(ADAMTSL2): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs113994124GRCh37Chr 9, 136435468: 136435468
7ADAMTSL2NM_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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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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Compounds for genes affiliated with Geleophysic Dysplasia

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Geleophysic Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate44 2410.5FBN1, LTBP1
2hydroxyproline44 24 1111.3TGFB1, FBN1
3hyaluronic acid44 2410.1TGFB1, FBN1
4proline449.0LTBP1, FBN1, FBN2
5cysteine448.9LTBP1, FBN1, FBN2
6tgf beta1448.8LTBP1, TGFB1, FBN1
7estrogen448.4LTBP1, TGFB1, FBN1

GO Terms for genes affiliated with Geleophysic Dysplasia

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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
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305128.9ADAMTSL2, TGFB1
3sequestering of TGFbeta in extracellular matrixGO:0355838.9LTBP1, FBN1, FBN2
4positive regulation of bone mineralizationGO:0305018.9TGFB1, FBN2
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
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet