MCID: GLP001
MIFTS: 42

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 52 25 58 36 29 6 39 71
Geleophysic Dwarfism 52 25 58

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:

KEGG 36 H00900
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 acromicric dysplasia and tracheal stenosis. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and NF-KappaB Family Pathway. Affiliated tissues include bone, liver and skin, and related phenotypes are craniofacial and muscle

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.

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 55)
# Related Disease Score Top Affiliating Genes
1 acromicric dysplasia 30.1 LTBP3 LOC113939944 FBN1
2 tracheal stenosis 30.1 LTBP3 FBN1 ADAMTSL2
3 marfan syndrome 29.9 TGFB1 LOC113939944 FBN1
4 isolated ectopia lentis 28.7 LTBP3 LTBP1 FBN1 ADAMTSL2
5 weill-marchesani syndrome 28.7 LTBP3 LTBP1 LOC113939944 FBN1 ADAMTSL2
6 geleophysic dysplasia 1 12.8
7 geleophysic dysplasia 2 12.8
8 geleophysic dysplasia 3 12.8
9 chromosome 8q22.1 duplication syndrome 11.3
10 brachydactyly 10.6
11 autosomal recessive disease 10.5
12 acromelic dysplasia 10.5
13 dwarfism 10.4
14 lysosomal storage disease 10.3
15 myhre syndrome 10.2
16 respiratory failure 10.2
17 skeletal dysplasias 10.2
18 dwarfism with stiff joints and ocular abnormalities 10.1
19 hypertelorism 10.1
20 trigger thumb 10.1
21 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1
22 branchiootic syndrome 1 10.1
23 astigmatism 10.1
24 intraocular pressure quantitative trait locus 10.1
25 brown syndrome 10.1
26 mucopolysaccharidosis-plus syndrome 10.1
27 pulmonary hypertension 10.1
28 monocular esotropia 10.1
29 hydrocephalus 10.1
30 mitral valve insufficiency 10.1
31 dysostosis 10.1
32 tricuspid valve stenosis 10.1
33 polyhydramnios 10.1
34 accommodative esotropia 10.1
35 esotropia 10.1
36 48,xyyy 10.1
37 growth hormone deficiency 10.1
38 lysosomal storage disease with skeletal involvement 10.1
39 lethal chondrodysplasia 10.1
40 tracheal disease 10.0 FBN1 ADAMTSL2
41 lens subluxation 10.0 FBN1 ADAMTSL2
42 autosomal recessive cutis laxa type i 10.0 TGFB1 FBN1
43 cutis laxa 10.0 TGFB1 FBN1
44 primary congenital glaucoma 9.9 LTBP3 FBN1
45 bullous keratopathy 9.9 TGFB1 FBN1
46 glaucoma 3, primary congenital, a 9.9 LTBP3 FBN1
47 heart valve disease 9.8 TGFB1 FBN1
48 glaucoma, primary open angle 9.7 LTBP3 FBN1
49 camurati-engelmann disease 9.6 TGFB1 LTBP3 FBN1
50 aortic aneurysm, familial thoracic 1 9.6 LTBP1 FBN1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 FBN1 LTBP1 LTBP3 TGFB1
2 muscle MP:0005369 9.46 ADAMTSL2 FBN1 LTBP1 TGFB1
3 respiratory system MP:0005388 9.26 ADAMTSL2 FBN1 LTBP3 TGFB1
4 skeleton MP:0005390 9.02 ADAMTSL2 FBN1 LTBP1 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:

40
Bone, Liver, Skin, 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 24 6
24014090 2013
2
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 61 24 6
21415077 2011
3
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 61 6
30195254 2018
4
Geleophysic Dysplasia 61 6
20301776 2009
5
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 61 24
29191498 2018
6
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 61 24
28917829 2017
7
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 61 24
27068007 2016
8
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. 61 24
27057656 2016
9
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. 61 24
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. 61 24
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. 61 24
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. 61 24
16368598 2005
19
Natural history of cardiac involvement in geleophysic dysplasia. 61 24
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. 61 24
9399356 1997
25
Patients with geleophysic dysplasia are not always geleophysic. 61 24
9295082 1997
26
Geleophysic dysplasia vs. Myhre syndrome. 61 24
8923952 1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 61 24
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. 61 24
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. 61 24
3130853 1987
35
Narrow trachea in mucopolysaccharidoses. 61 24
3923421 1985
36
Familial recurrence of geleophysic dysplasia. 61 24
6507494 1984
37
Geleophysic dysplasia. 61 24
6507495 1984
38
Acrofacial dysplasia resembling geleophysic dysplasia. 61 24
6507496 1984
39
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 61 24
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 225) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1602T>C (p.Cys534=)SNV Conflicting interpretations of pathogenicity 316384 rs377386372 15:48802353-48802353 15:48510156-48510156
3 FBN1 NM_000138.4(FBN1):c.6801C>T (p.Asn2267=)SNV Conflicting interpretations of pathogenicity 316366 rs886051245 15:48722938-48722938 15:48430741-48430741
4 FBN1 NM_000138.4(FBN1):c.5672-15C>GSNV Conflicting interpretations of pathogenicity 316372 rs776163620 15:48739034-48739034 15:48446837-48446837
5 FBN1 NM_000138.4(FBN1):c.8202C>T (p.Asn2734=)SNV Conflicting interpretations of pathogenicity 316362 rs113904256 15:48704790-48704790 15:48412593-48412593
6 FBN1 NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg)SNV Conflicting interpretations of pathogenicity 161244 rs146726731 15:48812976-48812976 15:48520779-48520779
7 FBN1 NM_000138.4(FBN1):c.5917+3A>GSNV Conflicting interpretations of pathogenicity 199950 rs202158568 15:48737570-48737570 15:48445373-48445373
8 FBN1 NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly)SNV Conflicting interpretations of pathogenicity 200027 rs200342067 15:48773926-48773926 15:48481729-48481729
9 FBN1 NM_000138.4(FBN1):c.902G>T (p.Gly301Val)SNV Conflicting interpretations of pathogenicity 199960 rs142888621 15:48818413-48818413 15:48526216-48526216
10 FBN1 NM_000138.4(FBN1):c.6314-15G>ASNV Conflicting interpretations of pathogenicity 228686 rs200841830 15:48729599-48729599 15:48437402-48437402
11 FBN1 NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp)SNV Conflicting interpretations of pathogenicity 16445 rs61746008 15:48704816-48704816 15:48412619-48412619
12 FBN1 NM_000138.4(FBN1):c.3509G>A (p.Arg1170His)SNV Conflicting interpretations of pathogenicity 16451 rs137854475 15:48779352-48779352 15:48487155-48487155
13 FBN1 NM_000138.4(FBN1):c.6700G>A (p.Val2234Met)SNV Conflicting interpretations of pathogenicity 36104 rs112084407 15:48725102-48725102 15:48432905-48432905
14 FBN1 NM_000138.4(FBN1):c.510C>T (p.Tyr170=)SNV Conflicting interpretations of pathogenicity 36086 rs111671429 15:48888508-48888508 15:48596311-48596311
15 FBN1 NM_000138.4(FBN1):c.986T>C (p.Ile329Thr)SNV Conflicting interpretations of pathogenicity 36133 rs12324002 15:48818329-48818329 15:48526132-48526132
16 FBN1 NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu)SNV Conflicting interpretations of pathogenicity 42334 rs2228241 15:48779550-48779550 15:48487353-48487353
17 FBN1 NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile)SNV Conflicting interpretations of pathogenicity 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
18 FBN1 NM_000138.4(FBN1):c.-176A>TSNV Conflicting interpretations of pathogenicity 137300 rs560004254 15:48937142-48937142 15:48644945-48644945
19 FBN1 NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys)SNV Conflicting interpretations of pathogenicity 237106 rs187553035 15:48704843-48704843 15:48412646-48412646
20 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met)SNV Conflicting interpretations of pathogenicity 263832 rs143007898 15:48703440-48703440 15:48411243-48411243
21 FBN1 NM_000138.4(FBN1):c.7056C>T (p.Ser2352=)SNV Conflicting interpretations of pathogenicity 263431 rs149697299 15:48719912-48719912 15:48427715-48427715
22 FBN1 NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser)SNV Conflicting interpretations of pathogenicity 263632 rs375996640 15:48780684-48780684 15:48488487-48488487
23 FBN1 NM_000138.4(FBN1):c.5724A>G (p.Thr1908=)SNV Conflicting interpretations of pathogenicity 316371 rs141219664 15:48738967-48738967 15:48446770-48446770
24 FBN1 NM_000138.4(FBN1):c.3337+11G>ASNV Conflicting interpretations of pathogenicity 316378 rs368726848 15:48780299-48780299 15:48488102-48488102
25 FBN1 NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln)SNV Conflicting interpretations of pathogenicity 316364 rs199522781 15:48713793-48713793 15:48421596-48421596
26 FBN1 NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn)SNV Uncertain significance 316368 rs886051247 15:48730014-48730014 15:48437817-48437817
27 FBN1 NM_000138.4(FBN1):c.5788+4C>ASNV Uncertain significance 316370 rs577301285 15:48738899-48738899 15:48446702-48446702
28 FBN1 NM_000138.4(FBN1):c.-132A>CSNV Uncertain significance 316396 rs886051255 15:48937098-48937098 15:48644901-48644901
29 FBN1 NM_000138.4(FBN1):c.-136G>CSNV Uncertain significance 316397 rs879283668 15:48937102-48937102 15:48644905-48644905
30 FBN1 NM_000138.4(FBN1):c.*2533C>ASNV Uncertain significance 316301 rs886051222 15:48700654-48700654 15:48408457-48408457
31 FBN1 NM_000138.4(FBN1):c.*2443G>TSNV Uncertain significance 316303 rs886051223 15:48700744-48700744 15:48408547-48408547
32 FBN1 NM_000138.4(FBN1):c.*2221A>GSNV Uncertain significance 316309 rs886051226 15:48700966-48700966 15:48408769-48408769
33 FBN1 NM_000138.4(FBN1):c.*202_*203deldeletion Uncertain significance 316358 rs766125141 15:48702984-48702985 15:48410787-48410788
34 FBN1 NM_000138.4(FBN1):c.*1672G>ASNV Uncertain significance 316325 rs886051231 15:48701515-48701515 15:48409318-48409318
35 FBN1 NM_000138.4(FBN1):c.*1477C>ASNV Uncertain significance 316332 rs886051233 15:48701710-48701710 15:48409513-48409513
36 FBN1 NM_000138.4(FBN1):c.*1396C>TSNV Uncertain significance 316335 rs886051235 15:48701791-48701791 15:48409594-48409594
37 FBN1 NM_000138.4(FBN1):c.723G>A (p.Thr241=)SNV Uncertain significance 316389 rs757264206 15:48829821-48829821 15:48537624-48537624
38 FBN1 NM_000138.4(FBN1):c.589G>C (p.Gly197Arg)SNV Uncertain significance 316390 rs886051251 15:48829955-48829955 15:48537758-48537758
39 FBN1 NM_000138.4(FBN1):c.*1733A>GSNV Uncertain significance 316322 rs886051230 15:48701454-48701454 15:48409257-48409257
40 FBN1 NM_000138.4(FBN1):c.*948G>TSNV Uncertain significance 316347 rs749224599 15:48702239-48702239 15:48410042-48410042
41 FBN1 NM_000138.4(FBN1):c.*938G>TSNV Uncertain significance 316348 rs886051238 15:48702249-48702249 15:48410052-48410052
42 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*242C>TSNV Uncertain significance 365616 rs372143951 9:136440228-136440228 9:133575106-133575106
43 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=)SNV Uncertain significance 365601 rs886063644 9:136433569-136433569 9:133568447-133568447
44 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=)SNV Uncertain significance 365603 rs11542920 9:136433778-136433778 9:133568656-133568656
45 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2506G>A (p.Glu836Lys)SNV Uncertain significance 365606 rs886063646 9:136435543-136435543 9:133570421-133570421
46 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=)SNV Uncertain significance 365609 rs368922820 9:136435557-136435557 9:133570435-133570435
47 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2689G>A (p.Val897Ile)SNV Uncertain significance 365612 rs886063649 9:136439061-136439061 9:133573939-133573939
48 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*566G>ASNV Uncertain significance 365623 rs886063652 9:136440552-136440552 9:133575430-133575430
49 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*577G>ASNV Uncertain significance 365624 rs886063653 9:136440563-136440563 9:133575441-133575441
50 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2512G>A (p.Gly838Arg)SNV Uncertain significance 365607 rs886063647 9:136435549-136435549 9:133570427-133570427

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.51 TGFB1 LTBP3 LTBP1 FBN1
2
Show member pathways
12.27 TGFB1 LTBP3 LTBP1
3
Show member pathways
12.11 TGFB1 LTBP3 LTBP1 FBN1
4
Show member pathways
11.97 TGFB1 LTBP3 LTBP1
5
Show member pathways
11.82 TGFB1 LTBP3 LTBP1
6 11.27 TGFB1 LTBP3 LTBP1
7 11.22 TGFB1 LTBP1
8 11.1 TGFB1 LTBP1 FBN1
9
Show member pathways
10.79 TGFB1 LTBP3 LTBP1 FBN1
10 10.77 LTBP1 FBN1
11 10.46 TGFB1 LTBP3 LTBP1 FBN1

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 TGFB1 LTBP3 LTBP1 FBN1 ADAMTSL2
2 collagen-containing extracellular matrix GO:0062023 9.26 TGFB1 LTBP3 LTBP1 FBN1
3 microfibril GO:0001527 9.16 LTBP1 FBN1
4 extracellular matrix GO:0031012 8.92 TGFB1 LTBP1 FBN1 ADAMTSL2

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.32 TGFB1 LTBP3
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.26 TGFB1 ADAMTSL2
3 cellular response to transforming growth factor beta stimulus GO:0071560 9.16 TGFB1 FBN1
4 cellular response to insulin-like growth factor stimulus GO:1990314 8.96 TGFB1 FBN1
5 sequestering of TGFbeta in extracellular matrix GO:0035583 8.62 LTBP1 FBN1

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