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MCID: GLP001
MIFTS: 34

Geleophysic Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Geleophysic Dysplasia

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MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 24 25 59 37 29 6 40 73
Geleophysic Dwarfism 25 59

Characteristics:

Orphanet epidemiological data:

59
geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA2623
UMLS via Orphanet 74 C3489726
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 45 C537677
KEGG 37 H00900
UMLS 73 C3489726
Sources

Summaries for Geleophysic Dysplasia

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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 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 p70S6K Signaling and Phospholipase-C Pathway. Affiliated tissues include bone, skin and heart, and related phenotypes are craniofacial and muscle

GeneReviews: NBK11168
Sources

Related Diseases for Geleophysic Dysplasia

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Diseases in the Geleophysic Dysplasia family:

Geleophysic Dysplasia 1 Geleophysic Dysplasia 2
Geleophysic Dysplasia 3

Diseases related to Geleophysic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 weill-marchesani syndrome 30.1 ADAMTSL2 FBN1
2 acromicric dysplasia 29.3 FBN1 LOC105370809 LTBP3
3 geleophysic dysplasia 1 12.5
4 geleophysic dysplasia 2 12.5
5 geleophysic dysplasia 3 12.3
6 geleophysic dwarfism 11.6
7 chromosome 8q22.1 duplication syndrome 11.0
8 tracheal stenosis 10.0 ADAMTSL2 FBN1
9 mass syndrome 10.0 FBN1 LOC105370809
10 myhre syndrome 9.9
11 type i 9.9
12 aortic valve disease 1 9.7 FBN1 TGFB1
13 systemic scleroderma 9.5 FBN1 TGFB1
14 stiff skin syndrome 9.4 FBN1 LOC105370809 TGFB1
15 bone fracture 9.4 LTBP1 TGFB1

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



Diseases related to Geleophysic Dysplasia
Sources

Symptoms & Phenotypes for Geleophysic Dysplasia

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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 FBN1 LTBP1 LTBP3 TGFB1
2 muscle MP:0005369 9.26 ADAMTSL2 FBN1 LTBP1 TGFB1
3 respiratory system MP:0005388 8.92 ADAMTSL2 FBN1 LTBP3 TGFB1
Sources

Drugs & Therapeutics for Geleophysic Dysplasia

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Search Clinical Trials , NIH Clinical Center for Geleophysic Dysplasia

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Genetic Tests for Geleophysic Dysplasia

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Genetic tests related to Geleophysic Dysplasia:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 29
Sources

Anatomical Context for Geleophysic Dysplasia

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MalaCards organs/tissues related to Geleophysic Dysplasia:

41
Bone, Skin, Heart, Trachea, Eye, Liver
Sources

Publications for Geleophysic Dysplasia

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Articles related to Geleophysic Dysplasia:

(show all 39)
# Title Authors Year
1
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )
2017
2
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )
2017
3
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
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
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
9
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
10
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
11
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
12
Novel mutations in geleophysic dysplasia. ( 24251637 )
2013
13
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
14
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
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
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
19
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
20
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
21
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
22
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
23
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
24
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
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
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
29
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
30
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
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. ( 2090119 )
1990
35
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
36
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
37
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
38
Geleophysic dysplasia. ( 6507495 )
1984
39
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984
Sources

Variations for Geleophysic Dysplasia

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ClinVar genetic disease variations for Geleophysic Dysplasia:

6
(show top 50) (show all 368)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh38 Chromosome 15, 48472574: 48472574
2 FBN1 NM_000138.4(FBN1): c.4313G> A (p.Ser1438Asn) single nucleotide variant Uncertain significance rs587782945 GRCh37 Chromosome 15, 48764771: 48764771
3 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh37 Chromosome 15, 48812976: 48812976
4 FBN1 NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146726731 GRCh38 Chromosome 15, 48520779: 48520779
5 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh38 Chromosome 15, 48463254: 48463254
6 FBN1 NM_000138.4(FBN1): c.5066-14dupT duplication Benign rs3833018 GRCh37 Chromosome 15, 48755451: 48755451
7 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh37 Chromosome 15, 48936888: 48936888
8 FBN1 NM_000138.4(FBN1): c.79G> A (p.Ala27Thr) single nucleotide variant Benign/Likely benign rs25397 GRCh38 Chromosome 15, 48644691: 48644691
9 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh38 Chromosome 15, 48412610: 48412610
10 FBN1 NM_000138.4(FBN1): c.8185A> C (p.Lys2729Gln) single nucleotide variant Likely benign rs370096856 GRCh37 Chromosome 15, 48704807: 48704807
11 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh38 Chromosome 15, 48427673: 48427673
12 FBN1 NM_000138.4(FBN1): c.7098C> T (p.Asp2366=) single nucleotide variant Benign/Likely benign rs1005074 GRCh37 Chromosome 15, 48719870: 48719870
13 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh37 Chromosome 15, 48737570: 48737570
14 FBN1 NM_000138.4(FBN1): c.5917+3A> G single nucleotide variant Benign/Likely benign rs202158568 GRCh38 Chromosome 15, 48445373: 48445373
15 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh37 Chromosome 15, 48773926: 48773926
16 FBN1 NM_000138.4(FBN1): c.3890A> G (p.Glu1297Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200342067 GRCh38 Chromosome 15, 48481729: 48481729
17 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh38 Chromosome 15, 48494266: 48494266
18 FBN1 NM_000138.4(FBN1): c.2678-12T> C single nucleotide variant Benign/Likely benign rs200368037 GRCh37 Chromosome 15, 48786463: 48786463
19 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh38 Chromosome 15, 48526216: 48526216
20 FBN1 NM_000138.4(FBN1): c.902G> T (p.Gly301Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142888621 GRCh37 Chromosome 15, 48818413: 48818413
21 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh37 Chromosome 15, 48729599: 48729599
22 FBN1 NM_000138.4(FBN1): c.6314-15G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200841830 GRCh38 Chromosome 15, 48437402: 48437402
23 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh37 Chromosome 15, 48704843: 48704843
24 FBN1 NM_000138.4(FBN1): c.8149G> A (p.Glu2717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs187553035 GRCh38 Chromosome 15, 48412646: 48412646
25 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh37 Chromosome 15, 48773880: 48773880
26 FBN1 NM_000138.4(FBN1): c.3936C> T (p.Ser1312=) single nucleotide variant Likely benign rs779913610 GRCh38 Chromosome 15, 48481683: 48481683
27 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh37 Chromosome 15, 48826356: 48826356
28 FBN1 NM_000138.4(FBN1): c.783T> C (p.Asn261=) single nucleotide variant Benign/Likely benign rs113721547 GRCh38 Chromosome 15, 48534159: 48534159
29 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh38 Chromosome 15, 48411243: 48411243
30 FBN1 NM_000138.4(FBN1): c.8363C> T (p.Thr2788Met) single nucleotide variant Benign/Likely benign rs143007898 GRCh37 Chromosome 15, 48703440: 48703440
31 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh38 Chromosome 15, 48427715: 48427715
32 FBN1 NM_000138.4(FBN1): c.7056C> T (p.Ser2352=) single nucleotide variant Conflicting interpretations of pathogenicity rs149697299 GRCh37 Chromosome 15, 48719912: 48719912
33 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh37 Chromosome 15, 48780684: 48780684
34 FBN1 NM_000138.4(FBN1): c.3089A> G (p.Asn1030Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs375996640 GRCh38 Chromosome 15, 48488487: 48488487
35 ADAMTSL2 NM_014694.3(ADAMTSL2): c.279G> A (p.Thr93=) single nucleotide variant Uncertain significance rs62637570 GRCh37 Chromosome 9, 136403516: 136403516
36 ADAMTSL2 NM_014694.3(ADAMTSL2): c.279G> A (p.Thr93=) single nucleotide variant Uncertain significance rs62637570 GRCh38 Chromosome 9, 133538394: 133538394
37 ADAMTSL2 NM_014694.3(ADAMTSL2): c.392A> G (p.Gln131Arg) single nucleotide variant Uncertain significance rs761328410 GRCh37 Chromosome 9, 136404975: 136404975
38 ADAMTSL2 NM_014694.3(ADAMTSL2): c.392A> G (p.Gln131Arg) single nucleotide variant Uncertain significance rs761328410 GRCh38 Chromosome 9, 133539853: 133539853
39 ADAMTSL2 NM_014694.3(ADAMTSL2): c.441G> A (p.Pro147=) single nucleotide variant Uncertain significance rs372783597 GRCh37 Chromosome 9, 136405748: 136405748
40 ADAMTSL2 NM_014694.3(ADAMTSL2): c.441G> A (p.Pro147=) single nucleotide variant Uncertain significance rs372783597 GRCh38 Chromosome 9, 133540626: 133540626
41 ADAMTSL2 NM_014694.3(ADAMTSL2): c.683-12T> G single nucleotide variant Benign rs9802778 GRCh38 Chromosome 9, 133544458: 133544458
42 ADAMTSL2 NM_014694.3(ADAMTSL2): c.683-12T> G single nucleotide variant Benign rs9802778 GRCh37 Chromosome 9, 136409580: 136409580
43 ADAMTSL2 NM_014694.3(ADAMTSL2): c.763+7A> G single nucleotide variant Uncertain significance rs776668079 GRCh38 Chromosome 9, 133544557: 133544557
44 ADAMTSL2 NM_014694.3(ADAMTSL2): c.763+7A> G single nucleotide variant Uncertain significance rs776668079 GRCh37 Chromosome 9, 136409679: 136409679
45 ADAMTSL2 NM_014694.3(ADAMTSL2): c.840A> T (p.Ala280=) single nucleotide variant Benign rs2073875 GRCh38 Chromosome 9, 133547114: 133547114
46 ADAMTSL2 NM_014694.3(ADAMTSL2): c.840A> T (p.Ala280=) single nucleotide variant Benign rs2073875 GRCh37 Chromosome 9, 136412236: 136412236
47 ADAMTSL2 NM_014694.3(ADAMTSL2): c.859A> C (p.Arg287=) single nucleotide variant Benign rs2073876 GRCh38 Chromosome 9, 133547133: 133547133
48 ADAMTSL2 NM_014694.3(ADAMTSL2): c.859A> C (p.Arg287=) single nucleotide variant Benign rs2073876 GRCh37 Chromosome 9, 136412255: 136412255
49 ADAMTSL2 NM_014694.3(ADAMTSL2): c.954C> T (p.Asn318=) single nucleotide variant Uncertain significance rs886063638 GRCh37 Chromosome 9, 136419493: 136419493
50 ADAMTSL2 NM_014694.3(ADAMTSL2): c.954C> T (p.Asn318=) single nucleotide variant Uncertain significance rs886063638 GRCh38 Chromosome 9, 133554371: 133554371
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Expression for Geleophysic Dysplasia

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Search GEO for disease gene expression data for Geleophysic Dysplasia.
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Pathways for Geleophysic Dysplasia

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Pathways related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
p70S6K Signaling 64
Show member pathways
 12.51 LTBP1 LTBP3 TGFB1
2
Phospholipase-C Pathway 64
Show member pathways
 12.35 FBN1 LTBP1 LTBP3 TGFB1
3
NF-KappaB Family Pathway 64
Show member pathways
 12.2 LTBP1 LTBP3 TGFB1
4
Degradation of the extracellular matrix 66
Show member pathways
 11.91 FBN1 LTBP1 LTBP3 TGFB1
5
Immune response IFN gamma signaling pathway 22
Show member pathways
 11.51 LTBP1 LTBP3 TGFB1
6
TGF-beta signaling pathway (KEGG) 37
11.36 LTBP1 TGFB1
7
TGF-beta Receptor Signaling (WikiPathways) 1
11.13 LTBP1 TGFB1
8
Elastic fibre formation 66
Show member pathways
 10.79 FBN1 LTBP1 LTBP3 TGFB1
9
Hypothesized Pathways in Pathogenesis of Cardiovascular Disease 1
10.65 FBN1 LTBP1
Sources

GO Terms for Geleophysic Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
2 microfibril GO:0001527 8.96 FBN1 LTBP1
3 extracellular matrix GO:0031012 8.92 FBN1 LTBP1 LTBP3 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

Sources for Geleophysic Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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