MCID: GLP001
MIFTS: 44

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 12 24 52 25 58 36 29 6 15 39 71
Geleophysic Dwarfism 12 74 52 25 58
Gphysd 12

Characteristics:

Orphanet epidemiological data:

58
geleophysic dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111724
KEGG 36 H00900
SNOMED-CT 67 28557005
MESH via Orphanet 44 C537677
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C3489726
Orphanet 58 ORPHA2623
UMLS 71 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. 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 3 and geleophysic dysplasia 1. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are ERK Signaling and Metabolism of proteins. Affiliated tissues include bone, skin and liver, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2623 Definition A rare skeletal dysplasia characterized by short stature , prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy''). Epidemiology Fewer than 30 cases have been reported to date. Clinical description The characteristic facial appearance (''happy'' face) consists in a shortened nose, full cheeks, hypertelorism, long flat philtrum, and a thin upper lip. Additional clinical features include progressive cardiac valvular thickening often leading to an early death, contractions of the gastrocnemius muscle and Achilles tendon leading to tip toe walking, tracheal stenosis, bronchopulmonary insufficiency, and liver enlargement. Radiological manifestations include delayed bone age, cone-shaped epiphyses, shortened long tubular bones and ovoid vertebral bodies. Etiology Mutations have been found in the ADAMTSL2 and FBN1 genes which appear to induce microfibrillar network disorganization and enhanced TGF-beta signaling. FBN1 encodes fibrillin-1 and ADAMTSL2 (Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2) encodes a glycoprotein of unknown function. Genetic counseling Transmission is autosomal recessive in the cases with ADAMTSL2 gene mutations and autosomal dominant in the cases with FBN1 mutations. Visit the Orphanet disease page for more resources.

KEGG : 36 Geleophysic dysplasia is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.

Wikipedia : 74 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 68)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 3 34.3 TSR1 TBRG1 LTBP3 LTBP2 ADAMTSL2
2 geleophysic dysplasia 1 34.2 TSR1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
3 geleophysic dysplasia 2 34.1 TSR1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
4 brachydactyly 30.7 LTBP2 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
5 tracheal stenosis 30.4 TBRG1 LTBP3 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
6 marfan syndrome 29.8 THSD4 TGFB1 LTBP2 LTBP1 LOC113939944 FBN3
7 acromicric dysplasia 28.2 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
8 weill-marchesani syndrome 27.9 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
9 isolated ectopia lentis 27.4 THSD4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1
10 chromosome 8q22.1 duplication syndrome 11.3
11 autosomal recessive disease 10.5
12 acromelic dysplasia 10.5
13 dwarfism 10.4
14 isolated microspherophakia 10.4 LTBP2 ADAMTS10
15 aortic aneurysm, familial thoracic 2 10.4 FBN2 FBN1
16 weill-marchesani syndrome 1 10.4 LTBP2 ADAMTS10
17 autosomal recessive cutis laxa type i 10.4 TGFB1 LTBP3 FBN1
18 tricuspid valve prolapse 10.3 FBN2 FBN1
19 lysosomal storage disease 10.3
20 cutis laxa, autosomal recessive, type ic 10.3 LTBP3 LTBP2
21 marden-walker syndrome 10.3 FBN2 FBN1
22 iris disease 10.3 LTBP3 LTBP2 FBN1
23 camurati-engelmann disease 10.3 TGFB1 LTBP3 LTBP2
24 postural orthostatic tachycardia syndrome 10.3 FBN2 FBN1
25 familial thoracic aortic aneurysm and aortic dissection 10.3 LOC113939944 FBN2 FBN1
26 myhre syndrome 10.2
27 respiratory failure 10.2
28 skeletal dysplasias 10.2
29 hydrophthalmos 10.2 LTBP3 LTBP2
30 phacogenic glaucoma 10.2 LTBP3 LTBP2 LTBP1 FBN1
31 sulfite oxidase deficiency, isolated 10.2 ADAMTSL4 ADAMTS10
32 primary congenital glaucoma 10.2 LTBP3 LTBP2 FBN1 ADAMTS10
33 loeys-dietz syndrome 10.2 LOC113939944 FBN2 FBN1
34 ectopia lentis 1, isolated, autosomal dominant 10.2 THSD4 FBN1 ADAMTSL4 ADAMTS10
35 ectopia lentis 2, isolated, autosomal recessive 10.2 THSD4 FBN1 ADAMTSL4 ADAMTS10
36 tracheal disease 10.1 TBRG1 FBN1 ADAMTSL2 ADAMTS17 ADAMTS10
37 juvenile glaucoma 10.1 LTBP3 LTBP2
38 dwarfism with stiff joints and ocular abnormalities 10.1
39 hypertelorism 10.1
40 trigger thumb 10.1
41 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
42 branchiootic syndrome 1 10.1
43 astigmatism 10.1
44 intraocular pressure quantitative trait locus 10.1
45 brown syndrome 10.1
46 mucopolysaccharidosis-plus syndrome 10.1
47 pulmonary hypertension 10.1
48 monocular esotropia 10.1
49 hydrocephalus 10.1
50 mitral valve insufficiency 10.1

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.36 ADAMTS17
2 Decreased viability GR00381-A-1 9.36 ADAMTS17 FBN3 LTBP3
3 Decreased viability GR00381-A-2 9.36 ADAMTS17 FBN3
4 Decreased viability GR00381-A-3 9.36 ADAMTS17 FBN3 LTBP3
5 Decreased viability GR00402-S-2 9.36 ADAMTS17 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:

# Genetic test Affiliating Genes
1 Geleophysic Dysplasia 29

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

40
Bone, Skin, Liver, Heart, Lung, Trachea, Eye

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 76)
# Title Authors PMID Year
1
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 61 6 24
24014090 2013
2
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 24 6 61
21415077 2011
3
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 6 61
30195254 2018
4
Geleophysic Dysplasia 6 61
20301776 2009
5
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 24 61
29191498 2018
6
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 61 24
28917829 2017
7
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. 24 61
27057656 2016
8
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 24 61
27068007 2016
9
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. 24 61
25850559 2015
10
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6
25979247 2015
11
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. 61 24
24192049 2015
12
Novel mutations in geleophysic dysplasia type 1. 24 61
24251637 2014
13
Geleophysic dysplasia associated with bilateral angle closure glaucoma. 61 24
23514648 2013
14
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. 61 24
23124041 2013
15
Genetic and molecular aspects of acromelic dysplasia. 61 24
19396027 2009
16
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 24 61
18677313 2008
17
Clinical and morphological phenotype of geleophysic dysplasia. 61 24
18510828 2008
18
Geleophysic dysplasia: a patient with a severe form of the disorder. 24 61
16368598 2005
19
Natural history of cardiac involvement in geleophysic dysplasia. 24 61
15690380 2005
20
Ocular findings in geleophysic dysplasia. 61 24
15088061 2004
21
Multiple trigger fingers associated with geleophysic dysplasia. 61 24
12136306 2002
22
Perthes-like changes in geleophysic dysplasia. 61 24
11943981 2002
23
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 61 24
10440835 1999
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. 24 61
9399356 1997
25
Patients with geleophysic dysplasia are not always geleophysic. 24 61
9295082 1997
26
Geleophysic dysplasia vs. Myhre syndrome. 24 61
8923952 1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 24 61
8723086 1996
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 61 24
8777926 1996
29
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 24 61
8533820 1995
30
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 6
1852206 1991
31
Geleophysic dysplasia: a further case. 61 24
2019943 1991
32
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 61 24
2380821 1990
33
Geleophysic dysplasia. 61 24
2090119 1990
34
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 24 61
3130853 1987
35
Narrow trachea in mucopolysaccharidoses. 24 61
3923421 1985
36
Familial recurrence of geleophysic dysplasia. 61 24
6507494 1984
37
Geleophysic dysplasia. 24 61
6507495 1984
38
Acrofacial dysplasia resembling geleophysic dysplasia. 61 24
6507496 1984
39
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 24 61
4104008 1971
40
Timing, rates and spectra of human germline mutation. 24
26656846 2016
41
Chondrodysplasias and TGFβ signaling. 24
25798233 2015
42
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. 24
22495824 2012
43
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 24
21683322 2011
44
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 24
19344874 2009
45
Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. 24
18672106 2008
46
ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. 24
17509843 2007
47
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 24
15368195 2004
48
A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. 24
15094112 2004
49
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. 24
12429738 2003
50
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 24
12525539 2003

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

6 (show top 50) (show all 198) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val)SNV Pathogenic/Likely pathogenic 430150 rs1131691804 15:48755320-48755320 15:48463123-48463123
2 FBN1 NM_000138.4(FBN1):c.7516G>A (p.Gly2506Ser)SNV Conflicting interpretations of pathogenicity 457262 rs756295016 15:48714203-48714203 15:48422006-48422006
3 FBN1 NM_000138.4(FBN1):c.2950G>A (p.Val984Ile)SNV Conflicting interpretations of pathogenicity 457184 rs747713929 15:48782180-48782180 15:48489983-48489983
4 FBN1 NM_000138.4(FBN1):c.4211-10C>TSNV Conflicting interpretations of pathogenicity 457205 rs28730793 15:48764883-48764883 15:48472686-48472686
5 FBN1 NM_000138.4(FBN1):c.4321G>A (p.Gly1441Arg)SNV Conflicting interpretations of pathogenicity 495607 rs372118067 15:48764763-48764763 15:48472566-48472566
6 FBN1 NM_000138.4(FBN1):c.7820-4G>ASNV Conflicting interpretations of pathogenicity 514647 rs750036723 15:48707968-48707968 15:48415771-48415771
7 FBN1 NM_000138.5(FBN1):c.*2045G>ASNV Conflicting interpretations of pathogenicity 884619 15:48701142-48701142 15:48408945-48408945
8 FBN1 NM_000138.5(FBN1):c.*779C>TSNV Conflicting interpretations of pathogenicity 885096 15:48702408-48702408 15:48410211-48410211
9 FBN1 NM_000138.5(FBN1):c.*43A>TSNV Conflicting interpretations of pathogenicity 888468 15:48703144-48703144 15:48410947-48410947
10 FBN1 NM_000138.5(FBN1):c.91G>A (p.Ala31Thr)SNV Conflicting interpretations of pathogenicity 884752 15:48936876-48936876 15:48644679-48644679
11 FBN1 NM_000138.5(FBN1):c.38T>G (p.Phe13Cys)SNV Conflicting interpretations of pathogenicity 885690 15:48936929-48936929 15:48644732-48644732
12 FBN1 NM_000138.5(FBN1):c.3712+9G>TSNV Conflicting interpretations of pathogenicity 887011 15:48777562-48777562 15:48485365-48485365
13 FBN1 NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)SNV Conflicting interpretations of pathogenicity 16445 rs61746008 15:48704816-48704816 15:48412619-48412619
14 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
15 FBN1 NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)SNV Conflicting interpretations of pathogenicity 36060 rs112287730 15:48782174-48782174 15:48489977-48489977
16 FBN1 NM_000138.5(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
17 FBN1 NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
18 FBN1 NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)SNV Conflicting interpretations of pathogenicity 36132 rs363847 15:48703301-48703301 15:48411104-48411104
19 FBN1 NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
20 FBN1 NM_000138.5(FBN1):c.2175T>C (p.Asn725=)SNV Conflicting interpretations of pathogenicity 42298 rs140606 15:48789581-48789581 15:48497384-48497384
21 FBN1 NM_000138.5(FBN1):c.2895G>A (p.Glu965=)SNV Conflicting interpretations of pathogenicity 42320 rs140591 15:48782235-48782235 15:48490038-48490038
22 FBN1 NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)SNV Conflicting interpretations of pathogenicity 42355 rs201273753 15:48764814-48764814 15:48472617-48472617
23 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met)SNV Conflicting interpretations of pathogenicity 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
24 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
25 FBN1 NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)SNV Conflicting interpretations of pathogenicity 42408 rs363824 15:48725121-48725121 15:48432924-48432924
26 FBN1 NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
27 FBN1 NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)SNV Conflicting interpretations of pathogenicity 42335 rs140396599 15:48779549-48779549 15:48487352-48487352
28 FBN1 NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser)SNV Conflicting interpretations of pathogenicity 42439 rs145105768 15:48704921-48704921 15:48412724-48412724
29 FBN1 NM_000138.4(FBN1):c.-176A>TSNV Conflicting interpretations of pathogenicity 137300 rs560004254 15:48937142-48937142 15:48644945-48644945
30 FBN1 NM_000138.4(FBN1):c.3590-8T>CSNV Conflicting interpretations of pathogenicity 137306 rs140600 15:48777701-48777701 15:48485504-48485504
31 FBN1 NM_000138.4(FBN1):c.7846A>G (p.Ile2616Val)SNV Conflicting interpretations of pathogenicity 161237 rs143677764 15:48707938-48707938 15:48415741-48415741
32 FBN1 NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)SNV Conflicting interpretations of pathogenicity 161244 rs146726731 15:48812976-48812976 15:48520779-48520779
33 FBN1 NM_000138.5(FBN1):c.247+10T>CSNV Conflicting interpretations of pathogenicity 178035 rs367618012 15:48905197-48905197 15:48613000-48613000
34 FBN1 NM_000138.4(FBN1):c.5917+3A>GSNV Conflicting interpretations of pathogenicity 199950 rs202158568 15:48737570-48737570 15:48445373-48445373
35 FBN1 NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg)SNV Conflicting interpretations of pathogenicity 200041 rs767606368 15:48764870-48764870 15:48472673-48472673
36 FBN1 NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)SNV Conflicting interpretations of pathogenicity 200027 rs200342067 15:48773926-48773926 15:48481729-48481729
37 FBN1 NM_000138.4(FBN1):c.902G>T (p.Gly301Val)SNV Conflicting interpretations of pathogenicity 199960 rs142888621 15:48818413-48818413 15:48526216-48526216
38 FBN1 NM_000138.5(FBN1):c.6314-15G>ASNV Conflicting interpretations of pathogenicity 228686 rs200841830 15:48729599-48729599 15:48437402-48437402
39 FBN1 NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)SNV Conflicting interpretations of pathogenicity 237106 rs187553035 15:48704843-48704843 15:48412646-48412646
40 FBN1 NM_000138.4(FBN1):c.3936C>T (p.Ser1312=)SNV Conflicting interpretations of pathogenicity 237089 rs779913610 15:48773880-48773880 15:48481683-48481683
41 FBN1 NM_000138.4(FBN1):c.1884C>T (p.Cys628=)SNV Conflicting interpretations of pathogenicity 237081 rs150421653 15:48797298-48797298 15:48505101-48505101
42 FBN1 NM_000138.4(FBN1):c.783T>C (p.Asn261=)SNV Conflicting interpretations of pathogenicity 237105 rs113721547 15:48826356-48826356 15:48534159-48534159
43 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)SNV Conflicting interpretations of pathogenicity 263832 rs143007898 15:48703440-48703440 15:48411243-48411243
44 FBN1 NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)SNV Conflicting interpretations of pathogenicity 263431 rs149697299 15:48719912-48719912 15:48427715-48427715
45 FBN1 NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)SNV Conflicting interpretations of pathogenicity 263632 rs375996640 15:48780684-48780684 15:48488487-48488487
46 FBN1 NM_000138.4(FBN1):c.2094G>T (p.Pro698=)SNV Conflicting interpretations of pathogenicity 264529 rs144775475 15:48796003-48796003 15:48503806-48503806
47 FBN1 NM_000138.4(FBN1):c.4998C>T (p.Thr1666=)SNV Conflicting interpretations of pathogenicity 281682 rs141925790 15:48756163-48756163 15:48463966-48463966
48 FBN1 NM_000138.4(FBN1):c.8185A>C (p.Lys2729Gln)SNV Conflicting interpretations of pathogenicity 199954 rs370096856 15:48704807-48704807 15:48412610-48412610
49 FBN1 NM_000138.4(FBN1):c.*2395G>ASNV Conflicting interpretations of pathogenicity 316306 rs184719603 15:48700792-48700792 15:48408595-48408595
50 FBN1 NM_000138.4(FBN1):c.*2024A>GSNV Conflicting interpretations of pathogenicity 316316 rs558488257 15:48701163-48701163 15:48408966-48408966

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.64 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3
2
Show member pathways
13.63 THSD4 TGFB1 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
3
Show member pathways
13.54 THSD4 TGFB1 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
4
Show member pathways
12.93 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3
5
Show member pathways
12.84 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.6 TGFB1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
7
Show member pathways
12.53 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
8
Show member pathways
12.23 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
9
Show member pathways
12.12 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
10
Show member pathways
12.1 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
11
Show member pathways
11.92 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
12 11.73 THSD4 TGFB1 LTBP1 FBN1
13 11.57 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
14
Show member pathways
11.36 TGFB1 LTBP3 LTBP2 LTBP1 FBN3 FBN2
15 11.12 LTBP2 LTBP1 FBN3 FBN2 FBN1
16
Show member pathways
11.11 THSD4 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
17 10.87 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN3

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 10.06 THSD4 TGFB1 PAPLN LTBP3 LTBP2 LTBP1
2 collagen-containing extracellular matrix GO:0062023 9.91 THSD4 TGFB1 LTBP3 LTBP2 LTBP1 FBN2
3 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 ADAMTSL4 ADAMTSL1
4 extracellular matrix GO:0031012 9.5 THSD4 TGFB1 PAPLN LTBP2 LTBP1 FBN3
5 microfibril GO:0001527 9.43 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 proteolysis GO:0006508 9.76 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 anatomical structure morphogenesis GO:0009653 9.61 FBN3 FBN2 FBN1
3 transforming growth factor beta receptor signaling pathway GO:0007179 9.58 TGFB1 LTBP3 LTBP2
4 elastic fiber assembly GO:0048251 9.37 THSD4 LTBP3
5 extracellular matrix organization GO:0030198 9.36 THSD4 PAPLN FBN2 FBN1 ADAMTSL5 ADAMTSL4
6 embryonic eye morphogenesis GO:0048048 9.32 FBN2 FBN1
7 cellular response to insulin-like growth factor stimulus GO:1990314 9.26 TGFB1 FBN1
8 sequestering of TGFbeta in extracellular matrix GO:0035583 9.13 LTBP1 FBN2 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.86 THSD4 PAPLN ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 calcium ion binding GO:0005509 9.85 LTBP3 LTBP2 LTBP1 FBN3 FBN2 FBN1
3 growth factor binding GO:0019838 9.5 LTBP3 LTBP2 LTBP1
4 transforming growth factor beta binding GO:0050431 9.43 LTBP3 LTBP1
5 extracellular matrix structural constituent GO:0005201 9.43 THSD4 LTBP2 LTBP1 FBN3 FBN2 FBN1
6 extracellular matrix constituent conferring elasticity GO:0030023 9.4 FBN2 FBN1
7 microfibril binding GO:0050436 9.33 LTBP2 LTBP1 ADAMTSL2
8 metalloendopeptidase activity GO:0004222 9.28 THSD4 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2

Sources for Geleophysic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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