MCID: GLP001
MIFTS: 33

Geleophysic Dysplasia malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Geleophysic Dysplasia

Aliases & Descriptions for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 23 24 25 56 29 69
Geleophysic Dwarfism 25 56

Characteristics:

Orphanet epidemiological data:

56
geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 56 ORPHA2623
UMLS via Orphanet 70 C3489726
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 43 C537677

Summaries for Geleophysic Dysplasia

Genetics Home Reference : 25 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 2 and geleophysic dysplasia 1. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are p70S6K Signaling and Phospholipase-C Pathway. Affiliated tissues include bone, heart and skin, and related phenotypes are mortality/aging and craniofacial

GeneReviews: NBK11168

Related Diseases for Geleophysic Dysplasia

Graphical network of the top 20 diseases related to Geleophysic Dysplasia:



Diseases related to Geleophysic Dysplasia

Symptoms & Phenotypes for Geleophysic Dysplasia

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.65 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
2 craniofacial MP:0005382 9.62 FBN1 LTBP1 LTBP3 TGFB1
3 adipose tissue MP:0005375 9.54 FBN1 LTBP1 TGFB1
4 muscle MP:0005369 9.46 ADAMTSL2 FBN1 LTBP1 TGFB1
5 respiratory system MP:0005388 9.26 ADAMTSL2 FBN1 LTBP3 TGFB1
6 skeleton MP:0005390 8.92 TGFB1 FBN1 LTBP1 LTBP3

Drugs & Therapeutics for Geleophysic Dysplasia

Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia

Genetic Tests for Geleophysic Dysplasia

Genetic tests related to Geleophysic Dysplasia:

id Genetic test Affiliating Genes
1 Geleophysic Dysplasia 29 24 FBN1

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

39
Bone, Heart, Skin, Eye, Trachea, Liver

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show all 37)
id Title Authors Year
1
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
2017
2
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )
2016
3
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
4
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )
2015
5
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. ( 25762570 )
2015
6
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
7
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
8
Novel mutations in geleophysic dysplasia. ( 24251637 )
2013
9
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
10
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
11
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
12
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
2013
13
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
14
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
15
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ( 21683322 )
2011
16
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
17
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
18
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
19
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
20
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
21
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
22
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
23
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
25
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
26
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
29
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
30
Geleophysic Dysplasia ( 20301776 )
1993
31
Geleophysic dysplasia: a further case. ( 2019943 )
1991
32
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
33
Geleophysic dysplasia. ( 2090119 )
1990
34
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
35
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984
36
Geleophysic dysplasia. ( 6507495 )
1984
37
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984

Variations for Geleophysic Dysplasia

Expression for Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for Geleophysic Dysplasia

GO Terms for Geleophysic Dysplasia

Cellular components related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
2 proteinaceous extracellular matrix GO:0005578 9.26 ADAMTSL2 FBN1 LTBP1 TGFB1
3 microfibril GO:0001527 9.16 FBN1 LTBP1
4 extracellular matrix GO:0031012 9.02 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1

Biological processes related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.26 ADAMTSL2 TGFB1
2 cellular response to transforming growth factor beta stimulus GO:0071560 9.16 FBN1 TGFB1
3 cellular response to insulin-like growth factor stimulus GO:1990314 8.96 FBN1 TGFB1
4 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 FBN1 LTBP1

Molecular functions related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.43 FBN1 LTBP1 LTBP3
2 growth factor binding GO:0019838 9.16 LTBP1 LTBP3
3 transforming growth factor beta binding GO:0050431 8.96 LTBP1 LTBP3
4 microfibril binding GO:0050436 8.62 ADAMTSL2 LTBP1

Sources for Geleophysic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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