MCID: GLP001
MIFTS: 46

Geleophysic Dysplasia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 11 24 19 42 58 28 5 14 38 71
Geleophysic Dwarfism 11 19 42 58 75 5
Gphysd 11

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111724
SNOMED-CT 68 28557005
MESH via Orphanet 44 C537677
ICD10 via Orphanet 32 Q87.1
UMLS via Orphanet 72 C3489726
Orphanet 58 ORPHA2623
UMLS 71 C3489726

Summaries for Geleophysic Dysplasia

MedlinePlus Genetics: 42 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.People with geleophysic dysplasia have short stature with very short hands and feet. Most also develop thickened skin and joint deformities called contractures, both of which significantly limit mobility. Affected individuals usually have a limited range of motion in their fingers, toes, wrists, and elbows. Additionally, contractures in the legs and hips cause many affected people to walk on their toes.The name of this condition, which comes from the Greek words for happy ("gelios") and nature ("physis"), is derived from the good-natured facial appearance seen in most affected individuals. The distinctive facial features associated with this condition include a round face with full cheeks, a small nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned corners of the mouth, and a flat area between the upper lip and the nose (philtrum).Geleophysic dysplasia is also characterized by heart (cardiac) problems, particularly abnormalities of the cardiac valves. These valves normally control the flow of blood through the heart. In people with geleophysic dysplasia, the cardiac valves thicken, which impedes blood flow and increases blood pressure in the heart. Other heart problems have also been reported in people with geleophysic dysplasia; these include a narrowing of the artery from the heart to the lungs (pulmonary stenosis) and a hole between the two upper chambers of the heart (atrial septal defect).Other features of geleophysic dysplasia can include an enlarged liver (hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a narrowing of the windpipe (tracheal stenosis) can cause serious breathing problems. As a result of heart and respiratory abnormalities, geleophysic dysplasia is often life-threatening in childhood. However, some affected people have lived into adulthood.

MalaCards based summary: Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to geleophysic dysplasia 2 and geleophysic dysplasia 3. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS Like 2), and among its related pathways/superpathways are Metabolism of proteins and Disease. Affiliated tissues include bone, heart and skin, and related phenotypes are limbs/digits/tail and craniofacial

Disease Ontology: 11 A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

GARD: 19 A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Orphanet: 58 A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Wikipedia: 75 Acromicric dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and... more...

GeneReviews: NBK11168

Related Diseases for Geleophysic Dysplasia

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 top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 2 32.7 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2 ADAMTS17
2 geleophysic dysplasia 3 32.7 TSR3 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 geleophysic dysplasia 1 32.6 TSR3 TBRG1 POFUT2 LTBP3 LTBP2 FBN1
4 acromicric dysplasia 30.6 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
5 tracheal stenosis 30.5 TGFB1 TBRG1 LTBP3 FBN1 ADAMTSL2 ADAMTS17
6 brachydactyly 30.5 LTBP2 LTBP1 FBN1 B3GLCT ADAMTSL4 ADAMTSL2
7 osteochondrodysplasia 30.4 TBRG1 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL2
8 myopia 30.3 TGFB1 LTBP2 FBN1 ADAMTS17 ADAMTS10
9 marfan syndrome 30.3 THSD4 TGFB1 LTBP2 FBN2 FBN1
10 aortic valve insufficiency 29.9 FBN2 FBN1
11 lens subluxation 29.8 LTBP3 LTBP2 FBN2 FBN1 ADAMTSL4 ADAMTSL2
12 stiff skin syndrome 29.5 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN2
13 weill-marchesani syndrome 29.2 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
14 aortic aneurysm, familial thoracic 1 29.1 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
15 isolated ectopia lentis 29.1 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
16 peters-plus syndrome 28.6 TSR3 THSD4 POFUT2 PAPLN LTBP3 LTBP2
17 chromosome 8q22.1 duplication syndrome 11.1
18 acromelic dysplasia 10.4
19 lysosomal storage disease 10.3
20 aortic aneurysm 10.3 TGFB1 FBN2 FBN1
21 achard syndrome 10.3 FBN2 FBN1
22 morgagni cataract 10.3 FBN1 ADAMTSL4
23 aqueous misdirection 10.3 LTBP2 ADAMTSL4
24 weill-marchesani syndrome 1 10.3 LTBP2 FBN1 ADAMTS10
25 spastic paraplegia 76, autosomal recessive 10.3 LTBP3 LTBP2
26 dental anomalies and short stature 10.3 LTBP3 LTBP2 FBN1
27 tricuspid valve prolapse 10.2 FBN2 FBN1
28 iris disease 10.2 LTBP3 LTBP2 FBN1
29 primary congenital glaucoma 10.2 LTBP3 LTBP2 ADAMTS10
30 cutis laxa 10.2 TGFB1 LTBP3 LTBP1 FBN1
31 postural orthostatic tachycardia syndrome 10.2 FBN2 FBN1
32 tracheal disease 10.2 TBRG1 FBN1 ADAMTSL2 ADAMTS10
33 cutis laxa, autosomal recessive, type ic 10.2 LTBP3 LTBP2 LTBP1 FBN1
34 autosomal recessive cutis laxa type i 10.2 LTBP3 LTBP2 LTBP1 FBN1
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
36 loeys-dietz syndrome 1 10.2 FBN2 FBN1
37 phacogenic glaucoma 10.2 LTBP3 LTBP2 LTBP1 FBN1
38 phacolytic glaucoma 10.2 THSD4 FBN1 B3GLCT
39 brachyolmia 10.2 LTBP3 LTBP2
40 ectopia lentis 2, isolated, autosomal recessive 10.2 THSD4 FBN1 ADAMTSL4 ADAMTS10
41 ectopia lentis 1, isolated, autosomal dominant 10.2 THSD4 FBN1 ADAMTSL4 ADAMTS10
42 radial nerve lesion 10.2 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
43 radial neuropathy 10.2 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1
44 axenfeld-rieger syndrome 10.2 LTBP3 LTBP2 B3GLCT
45 aniridia 1 10.2 LTBP3 LTBP2 B3GLCT
46 hydrophthalmos 10.1 LTBP3 LTBP2 B3GLCT ADAMTS10
47 orthostatic intolerance 10.1 LTBP3 LTBP2 FBN2 FBN1
48 retinal detachment 10.1 TGFB1 FBN1 ADAMTSL4
49 megalocornea 10.1 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
50 stickler syndrome, type i 10.1 FBN2 FBN1

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



Diseases related to Geleophysic Dysplasia

Symptoms & Phenotypes for Geleophysic Dysplasia

GenomeRNAi Phenotypes related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.13 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL1 ADAMTSL2 ADAMTSL3
2 no effect GR00402-S-2 10.13 ADAMTS10 ADAMTS20 ADAMTSL1 ADAMTSL2 ADAMTSL3 ADAMTSL4

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.87 ADAMTS17 ADAMTS20 ADAMTSL2 B3GLCT FBN1 FBN2
2 craniofacial MP:0005382 9.86 ADAMTS17 ADAMTS20 B3GLCT FBN1 FBN2 LTBP1
3 skeleton MP:0005390 9.85 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL3 B3GLCT FBN1
4 mortality/aging MP:0010768 9.77 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL2 B3GLCT FBN1
5 integument MP:0010771 9.32 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL4 B3GLCT 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

Organs/tissues related to Geleophysic Dysplasia:

MalaCards : Bone, Heart, Skin, Liver, Trachea, Eye

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 62 24 5
24014090 2013
2
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 62 24 5
21415077 2011
3
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 62 24 5
18677313 2008
4
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 24 5
21683322 2011
5
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 62 5
30195254 2018
6
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. 62 5
27245183 2016
7
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 62 24
29191498 2018
8
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 62 24
28917829 2017
9
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 62 24
27068007 2016
10
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. 62 24
27057656 2016
11
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. 62 24
25850559 2015
12
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. 62 24
24192049 2015
13
Novel mutations in geleophysic dysplasia type 1. 62 24
24251637 2014
14
Geleophysic dysplasia associated with bilateral angle closure glaucoma. 62 24
23514648 2013
15
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. 62 24
23124041 2013
16
Genetic and molecular aspects of acromelic dysplasia. 62 24
19396027 2009
17
Clinical and morphological phenotype of geleophysic dysplasia. 62 24
18510828 2008
18
Geleophysic dysplasia: a patient with a severe form of the disorder. 62 24
16368598 2005
19
Natural history of cardiac involvement in geleophysic dysplasia. 62 24
15690380 2005
20
Ocular findings in geleophysic dysplasia. 62 24
15088061 2004
21
Multiple trigger fingers associated with geleophysic dysplasia. 62 24
12136306 2002
22
Perthes-like changes in geleophysic dysplasia. 62 24
11943981 2002
23
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 62 24
10440835 1999
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. 62 24
9399356 1997
25
Patients with geleophysic dysplasia are not always geleophysic. 62 24
9295082 1997
26
Geleophysic dysplasia vs. Myhre syndrome. 62 24
8923952 1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 62 24
8723086 1996
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 62 24
8777926 1996
29
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 62 24
8533820 1995
30
Geleophysic dysplasia: a further case. 62 24
2019943 1991
31
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 62 24
2380821 1990
32
Geleophysic dysplasia. 62 24
2090119 1990
33
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 62 24
3130853 1987
34
Narrow trachea in mucopolysaccharidoses. 62 24
3923421 1985
35
Familial recurrence of geleophysic dysplasia. 62 24
6507494 1984
36
Acrofacial dysplasia resembling geleophysic dysplasia. 62 24
6507496 1984
37
Geleophysic dysplasia. 62 24
6507495 1984
38
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 62 24
4104008 1971
39
Timing, rates and spectra of human germline mutation. 24
26656846 2016
40
Chondrodysplasias and TGFβ signaling. 24
25798233 2015
41
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. 24
22495824 2012
42
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 24
19344874 2009
43
Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. 24
18672106 2008
44
ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. 24
17509843 2007
45
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 24
15368195 2004
46
A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. 24
15094112 2004
47
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. 24
12429738 2003
48
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 24
12525539 2003
49
Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. 24
13841169 1960
50
The critical role of the TB5 domain of fibrillin-1 in endochondral ossification. 62
35660865 2022

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

5 (show top 50) (show all 345)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTSL2 NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) SNV Pathogenic
30944 rs387907064 GRCh37: 9:136402651-136402651
GRCh38: 9:133537529-133537529
2 ADAMTSL2 NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) SNV Pathogenic
30945 rs387907065 GRCh37: 9:136406102-136406102
GRCh38: 9:133540980-133540980
3 ADAMTSL2 NM_014694.4(ADAMTSL2):c.234-2A>G SNV Pathogenic
427943 rs775621284 GRCh37: 9:136403469-136403469
GRCh38: 9:133538347-133538347
4 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) SNV Pathogenic
697 rs113994125 GRCh37: 9:136435623-136435623
GRCh38: 9:133570501-133570501
5 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) SNV Pathogenic
696 rs113994124 GRCh37: 9:136435468-136435468
GRCh38: 9:133570346-133570346
6 ADAMTSL2 NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) SNV Pathogenic
695 rs113994123 GRCh37: 9:136404923-136404923
GRCh38: 9:133539801-133539801
7 ADAMTSL2 NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) SNV Pathogenic
693 rs113994121 GRCh37: 9:136405747-136405747
GRCh38: 9:133540625-133540625
8 ADAMTSL2 NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) SNV Pathogenic
624558 rs761886575 GRCh37: 9:136405806-136405806
GRCh38: 9:133540684-133540684
9 ADAMTSL2 NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) SNV Pathogenic
915302 rs953298656 GRCh37: 9:136405836-136405836
GRCh38: 9:133540714-133540714
10 ADAMTSL2 NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) SNV Pathogenic/Likely Pathogenic
694 rs113994122 GRCh37: 9:136404921-136404921
GRCh38: 9:133539799-133539799
11 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2737+1G>T SNV Likely Pathogenic
1162207 GRCh37: 9:136439110-136439110
GRCh38: 9:133573988-133573988
12 FBN1 NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) SNV Likely Pathogenic
430150 rs1131691804 GRCh37: 15:48755320-48755320
GRCh38: 15:48463123-48463123
13 ADAMTSL2 NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys) SNV Likely Pathogenic
1164089 GRCh37: 9:136404920-136404920
GRCh38: 9:133539798-133539798
14 FBN1 NM_000138.5(FBN1):c.723G>A (p.Thr241=) SNV Uncertain Significance
316389 rs757264206 GRCh37: 15:48829821-48829821
GRCh38: 15:48537624-48537624
15 FBN1 NM_000138.5(FBN1):c.589G>C (p.Gly197Arg) SNV Uncertain Significance
316390 rs886051251 GRCh37: 15:48829955-48829955
GRCh38: 15:48537758-48537758
16 FBN1 NM_000138.5(FBN1):c.*1398G>C SNV Uncertain Significance
316334 rs886051234 GRCh37: 15:48701789-48701789
GRCh38: 15:48409592-48409592
17 FBN1 NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) SNV Uncertain Significance
316363 rs886051244 GRCh37: 15:48707773-48707773
GRCh38: 15:48415576-48415576
18 FBN1 NM_000138.5(FBN1):c.*2221A>G SNV Uncertain Significance
316309 rs886051226 GRCh37: 15:48700966-48700966
GRCh38: 15:48408769-48408769
19 FBN1 NM_000138.5(FBN1):c.4336+11G>A SNV Uncertain Significance
316374 rs886051249 GRCh37: 15:48764737-48764737
GRCh38: 15:48472540-48472540
20 FBN1 NM_000138.5(FBN1):c.-70C>A SNV Uncertain Significance
316394 rs886051253 GRCh37: 15:48937036-48937036
GRCh38: 15:48644839-48644839
21 FBN1 NM_000138.4(FBN1):c.-389_-388TC[1] MICROSAT Uncertain Significance
316400 rs886051258 GRCh37: 15:48937974-48937977
GRCh38: 15:48645777-48645780
22 FBN1 NM_000138.4(FBN1):c.-371T>C SNV Uncertain Significance
316399 rs886051257 GRCh37: 15:48937961-48937961
GRCh38: 15:48645764-48645764
23 FBN1 NM_000138.5(FBN1):c.1602T>C (p.Cys534=) SNV Uncertain Significance
316384 rs377386372 GRCh37: 15:48802353-48802353
GRCh38: 15:48510156-48510156
24 FBN1 NM_000138.5(FBN1):c.*254C>T SNV Uncertain Significance
316357 rs886051243 GRCh37: 15:48702933-48702933
GRCh38: 15:48410736-48410736
25 FBN1 NM_000138.5(FBN1):c.*1706C>A SNV Uncertain Significance
316324 rs770825180 GRCh37: 15:48701481-48701481
GRCh38: 15:48409284-48409284
26 FBN1 NM_000138.4(FBN1):c.-319G>T SNV Uncertain Significance
316398 rs886051256 GRCh37: 15:48937909-48937909
GRCh38: 15:48645712-48645712
27 FBN1 NM_000138.5(FBN1):c.*2114T>A SNV Uncertain Significance
316312 rs886051227 GRCh37: 15:48701073-48701073
GRCh38: 15:48408876-48408876
28 FBN1 NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) SNV Uncertain Significance
316366 rs886051245 GRCh37: 15:48722938-48722938
GRCh38: 15:48430741-48430741
29 FBN1 NM_000138.5(FBN1):c.6095C>G (p.Thr2032Ser) SNV Uncertain Significance
316369 rs756506237 GRCh37: 15:48733986-48733986
GRCh38: 15:48441789-48441789
30 FBN1 NM_000138.5(FBN1):c.5405A>G (p.Lys1802Arg) SNV Uncertain Significance
316373 rs886051248 GRCh37: 15:48748851-48748851
GRCh38: 15:48456654-48456654
31 FBN1 NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn) SNV Uncertain Significance
155792 rs587782945 GRCh37: 15:48764771-48764771
GRCh38: 15:48472574-48472574
32 FBN1 NM_000138.5(FBN1):c.2903C>T (p.Thr968Ile) SNV Uncertain Significance
316382 rs781698952 GRCh37: 15:48782227-48782227
GRCh38: 15:48490030-48490030
33 FBN1 NM_000138.5(FBN1):c.*2556G>A SNV Uncertain Significance
316300 rs886051221 GRCh37: 15:48700631-48700631
GRCh38: 15:48408434-48408434
34 FBN1 NM_000138.5(FBN1):c.223C>T (p.Pro75Ser) SNV Uncertain Significance
316393 rs886051252 GRCh37: 15:48905231-48905231
GRCh38: 15:48613034-48613034
35 FBN1 NM_000138.5(FBN1):c.-136G>C SNV Uncertain Significance
316397 rs879283668 GRCh37: 15:48937102-48937102
GRCh38: 15:48644905-48644905
36 FBN1 NM_000138.5(FBN1):c.*268G>C SNV Uncertain Significance
316356 rs886051242 GRCh37: 15:48702919-48702919
GRCh38: 15:48410722-48410722
37 FBN1 NM_000138.5(FBN1):c.*2638T>C SNV Uncertain Significance
316297 rs886051219 GRCh37: 15:48700549-48700549
GRCh38: 15:48408352-48408352
38 FBN1 NM_000138.5(FBN1):c.*2091G>A SNV Uncertain Significance
316313 rs575922741 GRCh37: 15:48701096-48701096
GRCh38: 15:48408899-48408899
39 FBN1 NM_000138.5(FBN1):c.1193G>A (p.Arg398Lys) SNV Uncertain Significance
316387 rs886051250 GRCh37: 15:48808514-48808514
GRCh38: 15:48516317-48516317
40 ADAMTSL2 NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=) SNV Uncertain Significance
976603 rs191009072 GRCh37: 9:136404901-136404901
GRCh38: 9:133539779-133539779
41 FBN1 NM_000138.5(FBN1):c.*724A>C SNV Uncertain Significance
316352 rs886051239 GRCh37: 15:48702463-48702463
GRCh38: 15:48410266-48410266
42 FBN1 NM_000138.5(FBN1):c.*948G>T SNV Uncertain Significance
316347 rs749224599 GRCh37: 15:48702239-48702239
GRCh38: 15:48410042-48410042
43 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*4C>T SNV Uncertain Significance
1319779 GRCh37: 9:136439990-136439990
GRCh38: 9:133574868-133574868
44 ADAMTSL2 NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) SNV Uncertain Significance
365570 rs200378599 GRCh37: 9:136401845-136401845
GRCh38: 9:133536723-133536723
45 FBN1 NM_000138.5(FBN1):c.*1943G>T SNV Uncertain Significance
316321 rs886051229 GRCh37: 15:48701244-48701244
GRCh38: 15:48409047-48409047
46 FBN1 NM_000138.5(FBN1):c.-132A>C SNV Uncertain Significance
316396 rs886051255 GRCh37: 15:48937098-48937098
GRCh38: 15:48644901-48644901
47 FBN1 NM_000138.5(FBN1):c.*938G>T SNV Uncertain Significance
316348 rs886051238 GRCh37: 15:48702249-48702249
GRCh38: 15:48410052-48410052
48 FBN1 NM_000138.5(FBN1):c.5788+4C>A SNV Uncertain Significance
316370 rs577301285 GRCh37: 15:48738899-48738899
GRCh38: 15:48446702-48446702
49 FBN1 NM_000138.5(FBN1):c.*2260C>A SNV Uncertain Significance
316308 rs886051225 GRCh37: 15:48700927-48700927
GRCh38: 15:48408730-48408730
50 FBN1 NM_000138.5(FBN1):c.*1733A>G SNV Uncertain Significance
316322 rs886051230 GRCh37: 15:48701454-48701454
GRCh38: 15:48409257-48409257

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 THSD4 TGFB1 POFUT2 LTBP1 FBN1 B3GLCT
2
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13.65 THSD4 TGFB1 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
3
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12.95 FBN1 FBN2 LTBP1 LTBP2 LTBP3 TBRG1
4
Show member pathways
12.86 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
5
Show member pathways
12.62 TGFB1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
6
Show member pathways
12.57 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
7
Show member pathways
12.5 THSD4 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
8
Show member pathways
12.47 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
9
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12.32 TGFB1 LTBP3 LTBP2 LTBP1 FBN1
10
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12.24 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
11
Show member pathways
12.07 THSD4 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
12
Show member pathways
11.86 TGFB1 LTBP3 LTBP1 FBN1 ADAMTSL2 ADAMTS10
13
Show member pathways
11.83 FBN1 LTBP1 LTBP2 LTBP3 TGFB1
14
Show member pathways
11.64 FBN1 FBN2 LTBP1 LTBP2 LTBP3 TGFB1
15 11.62 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
16
Show member pathways
11.52 THSD4 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
17 11.1 LTBP2 LTBP1 FBN2 FBN1
18 10.9 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN2

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 10.43 THSD4 TGFB1 PAPLN LTBP3 LTBP2 LTBP1
2 collagen-containing extracellular matrix GO:0062023 10.16 ADAMTS10 ADAMTS20 ADAMTSL4 FBN1 FBN2 LTBP1
3 extracellular matrix GO:0031012 9.75 ADAMTS10 ADAMTS17 ADAMTS20 ADAMTSL2 ADAMTSL3 ADAMTSL4
4 microfibril GO:0001527 9.7 THSD4 LTBP1 FBN2 FBN1 ADAMTSL5 ADAMTS10

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

# Name GO ID Score Top Affiliating Genes
1 elastic fiber assembly GO:0048251 9.71 THSD4 LTBP3
2 embryonic eye morphogenesis GO:0048048 9.67 FBN2 FBN1
3 extracellular matrix organization GO:0030198 9.58 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS20
4 fucose metabolic process GO:0006004 9.56 POFUT2 B3GLCT
5 cellular response to insulin-like growth factor stimulus GO:1990314 9.5 TGFB1 FBN1
6 protein O-linked fucosylation GO:0036066 9.46 B3GLCT POFUT2
7 sequestering of TGFbeta in extracellular matrix GO:0035583 9.43 FBN1 FBN2 LTBP1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.85 THSD4 LTBP2 LTBP1 FBN2 FBN1
2 metalloendopeptidase activity GO:0004222 9.7 PAPLN ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS20 ADAMTS17
3 extracellular matrix constituent conferring elasticity GO:0030023 9.62 FBN2 FBN1
4 growth factor binding GO:0019838 9.56 LTBP1 LTBP2 LTBP3
5 microfibril binding GO:0050436 9.17 LTBP2 LTBP1 ADAMTSL5 ADAMTSL2

Sources for Geleophysic Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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