MCID: GLP001
MIFTS: 35

Geleophysic Dysplasia

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

Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 23 24 55 36 28 69
Geleophysic Dwarfism 24 55

Characteristics:

Orphanet epidemiological data:

55
geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 55 ORPHA2623
UMLS via Orphanet 70 C3489726
MESH via Orphanet 42 C537677
ICD10 via Orphanet 33 Q87.1
KEGG 36 H00900
UMLS 69 C3489726

Summaries for Geleophysic Dysplasia

Genetics Home Reference : 24 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 weill-marchesani syndrome and acromicric dysplasia. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are ERK Signaling and p70S6K Signaling. Affiliated tissues include bone, skin and heart, 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:

43
# 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 LTBP1 LTBP3 TGFB1 FBN1

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:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 28

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

38
Bone, Skin, Heart, Trachea, Eye, Liver

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show all 39)
# Title Authors Year
1
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
2017
2
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )
2017
3
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )
2017
4
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
5
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )
2016
6
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )
2015
7
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. ( 25762570 )
2015
8
Novel mutations in geleophysic dysplasia. ( 24251637 )
2013
9
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
10
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
11
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
12
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
13
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
2013
14
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
15
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. ( 23133647 )
2012
16
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. ( 21683322 )
2011
17
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
18
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
19
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
20
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
21
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
22
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
23
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
24
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
25
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
26
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
27
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
28
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
29
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
30
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
31
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
32
Geleophysic Dysplasia ( 20301776 )
1993
33
Geleophysic dysplasia: a further case. ( 2019943 )
1991
34
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
35
Geleophysic dysplasia. ( 2090119 )
1990
36
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
37
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
38
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984
39
Geleophysic dysplasia. ( 6507495 )
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:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
2 extracellular matrix GO:0031012 9.26 FBN1 LTBP1 LTBP3 TGFB1
3 microfibril GO:0001527 9.16 FBN1 LTBP1
4 proteinaceous extracellular matrix GO:0005578 8.92 ADAMTSL2 FBN1 LTBP1 TGFB1

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

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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