MCID: GLP001
MIFTS: 36

Geleophysic Dysplasia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Geleophysic Dysplasia

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:



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

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 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 skin, bone and heart, and related phenotypes are craniofacial and muscle

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:

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

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 29

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

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

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show all 40)
# Title Authors Year
1
Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia. ( 30415012 )
2018
2
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes. ( 30057829 )
2018
3
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. ( 30195254 )
2018
4
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. ( 29191498 )
2017
5
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. ( 28917829 )
2017
6
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. ( 27935852 )
2017
7
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. ( 27068007 )
2016
8
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. ( 27057656 )
2016
9
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. ( 25850559 )
2015
10
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. ( 25762570 )
2015
11
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. ( 24039088 )
2013
12
Geleophysic dysplasia associated with bilateral angle closure glaucoma. ( 23514648 )
2013
13
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. ( 24014090 )
2013
14
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. ( 23124041 )
2013
15
Novel mutations in geleophysic dysplasia. ( 24251637 )
2013
16
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. ( 24214363 )
2013
17
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. ( 24192049 )
2013
18
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. ( 21415077 )
2011
19
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. ( 18677313 )
2008
20
Clinical and morphological phenotype of geleophysic dysplasia. ( 18510828 )
2008
21
Geleophysic dysplasia: a patient with a severe form of the disorder. ( 16368598 )
2005
22
Natural history of cardiac involvement in geleophysic dysplasia. ( 15690380 )
2005
23
Ocular findings in geleophysic dysplasia. ( 15088061 )
2004
24
Perthes-like changes in geleophysic dysplasia. ( 11943981 )
2002
25
Multiple trigger fingers associated with geleophysic dysplasia. ( 12136306 )
2002
26
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. ( 10440835 )
1999
27
Patients with geleophysic dysplasia are not always geleophysic. ( 9295082 )
1997
28
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. ( 9399356 )
1997
29
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. ( 8777926 )
1996
30
Geleophysic dysplasia vs. Myhre syndrome. ( 8923952 )
1996
31
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. ( 8723086 )
1996
32
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. ( 8533820 )
1995
33
Geleophysic Dysplasia ( 20301776 )
1993
34
Geleophysic dysplasia: a further case. ( 2019943 )
1991
35
Geleophysic dysplasia. ( 2090119 )
1990
36
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. ( 2380821 )
1990
37
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. ( 3130853 )
1987
38
Familial recurrence of geleophysic dysplasia. ( 6507494 )
1984
39
Geleophysic dysplasia. ( 6507495 )
1984
40
Acrofacial dysplasia resembling geleophysic dysplasia. ( 6507496 )
1984

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

6 (show top 50) (show all 448)
# Gene Variation Type Significance SNP ID Assembly Location
1 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh37 Chromosome 15, 48704816: 48704816
2 FBN1 NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61746008 GRCh38 Chromosome 15, 48412619: 48412619
3 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh37 Chromosome 15, 48779352: 48779352
4 FBN1 NM_000138.4(FBN1): c.3509G> A (p.Arg1170His) single nucleotide variant Conflicting interpretations of pathogenicity rs137854475 GRCh38 Chromosome 15, 48487155: 48487155
5 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh37 Chromosome 15, 48800870: 48800870
6 FBN1 NM_000138.4(FBN1): c.1746C> T (p.Cys582=) single nucleotide variant Benign/Likely benign rs112366266 GRCh38 Chromosome 15, 48508673: 48508673
7 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh37 Chromosome 15, 48782174: 48782174
8 FBN1 NM_000138.4(FBN1): c.2956G> A (p.Ala986Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112287730 GRCh38 Chromosome 15, 48489977: 48489977
9 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh37 Chromosome 15, 48777608: 48777608
10 FBN1 NM_000138.4(FBN1): c.3675G> A (p.Pro1225=) single nucleotide variant Benign/Likely benign rs148147223 GRCh38 Chromosome 15, 48485411: 48485411
11 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh37 Chromosome 15, 48766855: 48766855
12 FBN1 NM_000138.4(FBN1): c.3965-8T> C single nucleotide variant Benign/Likely benign rs140637 GRCh38 Chromosome 15, 48474658: 48474658
13 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh37 Chromosome 15, 48757802: 48757802
14 FBN1 NM_000138.4(FBN1): c.4905C> G (p.Thr1635=) single nucleotide variant Benign/Likely benign rs113115949 GRCh38 Chromosome 15, 48465605: 48465605
15 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh37 Chromosome 15, 48888508: 48888508
16 FBN1 NM_000138.4(FBN1): c.510C> T (p.Tyr170=) single nucleotide variant Conflicting interpretations of pathogenicity rs111671429 GRCh38 Chromosome 15, 48596311: 48596311
17 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh37 Chromosome 15, 48726813: 48726813
18 FBN1 NM_000138.4(FBN1): c.6594C> T (p.Pro2198=) single nucleotide variant Benign/Likely benign rs111844882 GRCh38 Chromosome 15, 48434616: 48434616
19 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh37 Chromosome 15, 48725102: 48725102
20 FBN1 NM_000138.4(FBN1): c.6700G> A (p.Val2234Met) single nucleotide variant Conflicting interpretations of pathogenicity rs112084407 GRCh38 Chromosome 15, 48432905: 48432905
21 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh37 Chromosome 15, 48722907: 48722907
22 FBN1 NM_000138.4(FBN1): c.6832C> T (p.Pro2278Ser) single nucleotide variant Benign/Likely benign rs363835 GRCh38 Chromosome 15, 48430710: 48430710
23 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh37 Chromosome 15, 48703520: 48703520
24 FBN1 NM_000138.4(FBN1): c.8283A> T (p.Thr2761=) single nucleotide variant Benign/Likely benign rs146120912 GRCh38 Chromosome 15, 48411323: 48411323
25 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh37 Chromosome 15, 48703301: 48703301
26 FBN1 NM_000138.4(FBN1): c.8502T> C (p.Thr2834=) single nucleotide variant Benign/Likely benign rs363847 GRCh38 Chromosome 15, 48411104: 48411104
27 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh37 Chromosome 15, 48818329: 48818329
28 FBN1 NM_000138.4(FBN1): c.986T> C (p.Ile329Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs12324002 GRCh38 Chromosome 15, 48526132: 48526132
29 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh37 Chromosome 15, 48936811: 48936811
30 FBN1 NM_000138.4(FBN1): c.156G> T (p.Ala52=) single nucleotide variant Benign rs25398 GRCh38 Chromosome 15, 48644614: 48644614
31 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh37 Chromosome 15, 48797307: 48797307
32 FBN1 NM_000138.4(FBN1): c.1875T> C (p.Asn625=) single nucleotide variant Benign rs25458 GRCh38 Chromosome 15, 48505110: 48505110
33 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh37 Chromosome 15, 48789581: 48789581
34 FBN1 NM_000138.4(FBN1): c.2175T> C (p.Asn725=) single nucleotide variant Benign/Likely benign rs140606 GRCh38 Chromosome 15, 48497384: 48497384
35 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh37 Chromosome 15, 48782284: 48782284
36 FBN1 NM_000138.4(FBN1): c.2855-9C> T single nucleotide variant Benign/Likely benign rs140590 GRCh38 Chromosome 15, 48490087: 48490087
37 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh37 Chromosome 15, 48782235: 48782235
38 FBN1 NM_000138.4(FBN1): c.2895G> A (p.Glu965=) single nucleotide variant Benign/Likely benign rs140591 GRCh38 Chromosome 15, 48490038: 48490038
39 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh37 Chromosome 15, 48779550: 48779550
40 FBN1 NM_000138.4(FBN1): c.3422C> T (p.Pro1141Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2228241 GRCh38 Chromosome 15, 48487353: 48487353
41 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh37 Chromosome 15, 48779549: 48779549
42 FBN1 NM_000138.4(FBN1): c.3423G> A (p.Pro1141=) single nucleotide variant Likely benign rs140396599 GRCh38 Chromosome 15, 48487352: 48487352
43 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh37 Chromosome 15, 48779506: 48779506
44 FBN1 NM_000138.4(FBN1): c.3463+3A> G single nucleotide variant Benign/Likely benign rs80344206 GRCh38 Chromosome 15, 48487309: 48487309
45 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh37 Chromosome 15, 48760242: 48760242
46 FBN1 NM_000138.4(FBN1): c.4640C> T (p.Thr1547Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs183306990 GRCh38 Chromosome 15, 48468045: 48468045
47 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh37 Chromosome 15, 48744862: 48744862
48 FBN1 NM_000138.4(FBN1): c.5442C> T (p.Asn1814=) single nucleotide variant Benign/Likely benign rs397515822 GRCh38 Chromosome 15, 48452665: 48452665
49 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh37 Chromosome 15, 48738893: 48738893
50 FBN1 NM_000138.4(FBN1): c.5788+10C> A single nucleotide variant Benign/Likely benign rs371560107 GRCh38 Chromosome 15, 48446696: 48446696

Expression for Geleophysic Dysplasia

Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for Geleophysic Dysplasia

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 LTBP1 LTBP3 TGFB1
2
Show member pathways
12.45 FBN1 LTBP1 LTBP3 TGFB1
3
Show member pathways
12.27 LTBP1 LTBP3 TGFB1
4
Show member pathways
11.97 LTBP1 LTBP3 TGFB1
5
Show member pathways
11.91 FBN1 LTBP1 LTBP3 TGFB1
6
Show member pathways
11.79 LTBP1 LTBP3 TGFB1
7
Show member pathways
11.62 LTBP1 LTBP3 TGFB1
8 11.43 LTBP1 TGFB1
9 11.23 LTBP1 LTBP3 TGFB1
10 11.22 LTBP1 TGFB1
11
Show member pathways
10.79 FBN1 LTBP1 LTBP3 TGFB1
12 10.72 FBN1 LTBP1
13 10.36 FBN1 LTBP1 LTBP3 TGFB1

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 collagen-containing extracellular matrix GO:0062023 9.33 FBN1 LTBP1 TGFB1
3 extracellular matrix GO:0031012 9.02 ADAMTSL2 FBN1 LTBP1 LTBP3 TGFB1
4 microfibril GO:0001527 8.96 FBN1 LTBP1

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 9.5 FBN1 LTBP1 LTBP3
2 extracellular matrix structural constituent GO:0005201 9.26 FBN1 LTBP1
3 growth factor binding GO:0019838 9.16 LTBP1 LTBP3
4 transforming growth factor beta binding GO:0050431 8.96 LTBP1 LTBP3
5 microfibril binding GO:0050436 8.62 ADAMTSL2 LTBP1

Sources for Geleophysic Dysplasia

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
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