MCID: GLP001
MIFTS: 46

Geleophysic Dysplasia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Geleophysic Dysplasia

MalaCards integrated aliases for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 12 25 20 43 58 36 29 6 15 39 71
Geleophysic Dwarfism 12 74 20 43 58 6
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 45 C537677
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C3489726
Orphanet 58 ORPHA2623
UMLS 71 C3489726

Summaries for Geleophysic Dysplasia

MedlinePlus Genetics : 43 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 1 and geleophysic dysplasia 3. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Metabolism of proteins and HIV Life Cycle. Affiliated tissues include heart, skin and trachea, and related phenotypes are integument and craniofacial

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2623DefinitionA rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').EpidemiologyFewer than 30 cases have been reported to date.Clinical descriptionThe 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.EtiologyMutations 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 counselingTransmission 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 75)
# Related Disease Score Top Affiliating Genes
1 geleophysic dysplasia 1 32.7 TSR3 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
2 geleophysic dysplasia 3 32.7 TSR1 TBRG1 LTBP3 LTBP2 ADAMTSL2
3 geleophysic dysplasia 2 32.6 TSR1 TBRG1 LTBP3 LTBP2 FBN1 ADAMTSL2
4 brachydactyly 30.5 LTBP2 FBN1 B3GLCT ADAMTSL2 ADAMTS17 ADAMTS10
5 acromicric dysplasia 30.4 TBRG1 PAPLN LTBP3 LTBP2 LTBP1 LOC113939944
6 marfan syndrome 30.3 TGFB1 LTBP2 LOC113939944 FBN2 FBN1
7 tracheal stenosis 30.0 TGFB1 TBRG1 LTBP3 LTBP1 FBN1 ADAMTSL4
8 weill-marchesani syndrome 28.9 TBRG1 PAPLN LTBP3 LTBP2 LTBP1 LOC113939944
9 peters-plus syndrome 28.6 TSR3 TSR1 POFUT2 LTBP3 LTBP2 B3GLCT
10 isolated ectopia lentis 28.5 TBRG1 PAPLN LTBP3 LTBP2 LTBP1 FBN2
11 chromosome 8q22.1 duplication syndrome 11.1
12 autosomal recessive disease 10.4
13 lens position anomaly 10.3 FBN1 ADAMTSL4
14 isolated microspherophakia 10.3 LTBP2 ADAMTS10
15 marfanoid-progeroid-lipodystrophy syndrome 10.3 LOC113939944 FBN1
16 acromelic dysplasia 10.3
17 aortic aneurysm, familial thoracic 2 10.3 FBN2 FBN1
18 cutis laxa 10.3 LTBP3 LTBP1 FBN1
19 autosomal recessive cutis laxa type i 10.3 TGFB1 LTBP3 FBN1
20 ectopia lentis 1, isolated, autosomal dominant 10.3 FBN1 ADAMTSL4 ADAMTS10
21 tricuspid valve prolapse 10.3 FBN2 FBN1
22 ectopia lentis 2, isolated, autosomal recessive 10.3 FBN1 ADAMTSL4 ADAMTS10
23 excessive tearing 10.3 LTBP3 LTBP2
24 dwarfism 10.3
25 postural orthostatic tachycardia syndrome 10.3 TBRG1 FBN2 FBN1
26 iris disease 10.2 LTBP3 LTBP2 FBN1
27 witkop syndrome 10.2 LTBP3 LTBP2
28 camurati-engelmann disease 10.2 TGFB1 LTBP3 LTBP2
29 weill-marchesani syndrome 1 10.2 LTBP2 FBN1 ADAMTS10
30 marden-walker syndrome 10.2 FBN2 FBN1
31 phacogenic glaucoma 10.2 LTBP3 LTBP2 LTBP1 FBN1
32 lysosomal storage disease 10.2
33 primary congenital glaucoma 10.2 LTBP3 LTBP2 FBN1 ADAMTS10
34 winchester syndrome 10.2 ADAMTSL3 ADAMTSL1 ADAMTS17
35 loeys-dietz syndrome 10.2 LTBP1 LOC113939944 FBN2 FBN1
36 hydrophthalmos 10.2 LTBP3 LTBP2
37 glaucoma 3, primary congenital, a 10.2 LTBP3 LTBP2 ADAMTS17 ADAMTS10
38 hypertrophic scars 10.1 TGFB1 FBN1
39 odontochondrodysplasia 10.1 TBRG1 FBN2 FBN1 ADAMTSL2
40 myhre syndrome 10.1
41 respiratory failure 10.1
42 skeletal dysplasias 10.1
43 aortic aneurysm, familial thoracic 1 10.1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
44 glaucoma, primary open angle 10.1 LTBP3 LTBP2 FBN1 ADAMTS17 ADAMTS10
45 axenfeld-rieger syndrome 10.1 LTBP3 LTBP2 B3GLCT
46 ehlers-danlos syndrome, dermatosparaxis type 10.0 PAPLN ADAMTSL5 ADAMTSL3 ADAMTSL1
47 tracheal disease 10.0 TBRG1 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
48 myopia 10.0 TGFB1 LTBP2 FBN1 ADAMTS17 ADAMTS10
49 aniridia 1 10.0 LTBP3 LTBP2 B3GLCT
50 megalocornea 10.0 LTBP3 LTBP2 LTBP1 FBN1 ADAMTS17 ADAMTS10

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 integument MP:0010771 9.81 ADAMTS10 ADAMTS17 ADAMTSL4 B3GLCT FBN1 FBN2
2 craniofacial MP:0005382 9.8 ADAMTS17 B3GLCT FBN1 FBN2 LTBP1 LTBP3
3 limbs/digits/tail MP:0005371 9.5 ADAMTS17 ADAMTSL2 ADAMTSL5 B3GLCT FBN1 FBN2
4 skeleton MP:0005390 9.32 ADAMTS10 ADAMTS17 ADAMTSL2 ADAMTSL5 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 29

Anatomical Context for Geleophysic Dysplasia

MalaCards organs/tissues related to Geleophysic Dysplasia:

40
Heart, Skin, Trachea, Eye

Publications for Geleophysic Dysplasia

Articles related to Geleophysic Dysplasia:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. 6 25 61
24014090 2013
2
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. 61 6 25
21415077 2011
3
Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. 6 61
30195254 2018
4
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia. 25 61
29191498 2018
5
A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2. 25 61
28917829 2017
6
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. 25 61
27068007 2016
7
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. 61 25
27057656 2016
8
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. 25 61
25850559 2015
9
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 6
25979247 2015
10
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. 25 61
24192049 2015
11
Novel mutations in geleophysic dysplasia type 1. 61 25
24251637 2014
12
Geleophysic dysplasia associated with bilateral angle closure glaucoma. 25 61
23514648 2013
13
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. 25 61
23124041 2013
14
Genetic and molecular aspects of acromelic dysplasia. 25 61
19396027 2009
15
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 61 25
18677313 2008
16
Clinical and morphological phenotype of geleophysic dysplasia. 25 61
18510828 2008
17
Geleophysic dysplasia: a patient with a severe form of the disorder. 25 61
16368598 2005
18
Natural history of cardiac involvement in geleophysic dysplasia. 25 61
15690380 2005
19
Ocular findings in geleophysic dysplasia. 25 61
15088061 2004
20
Multiple trigger fingers associated with geleophysic dysplasia. 61 25
12136306 2002
21
Perthes-like changes in geleophysic dysplasia. 61 25
11943981 2002
22
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. 25 61
10440835 1999
23
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. 61 25
9399356 1997
24
Patients with geleophysic dysplasia are not always geleophysic. 61 25
9295082 1997
25
Geleophysic dysplasia vs. Myhre syndrome. 25 61
8923952 1996
26
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. 61 25
8723086 1996
27
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. 61 25
8777926 1996
28
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. 25 61
8533820 1995
29
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. 6
1852206 1991
30
Geleophysic dysplasia: a further case. 25 61
2019943 1991
31
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. 25 61
2380821 1990
32
Geleophysic dysplasia. 25 61
2090119 1990
33
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. 25 61
3130853 1987
34
Narrow trachea in mucopolysaccharidoses. 61 25
3923421 1985
35
Geleophysic dysplasia. 25 61
6507495 1984
36
Acrofacial dysplasia resembling geleophysic dysplasia. 61 25
6507496 1984
37
Familial recurrence of geleophysic dysplasia. 25 61
6507494 1984
38
Geleophysic dwarfism--a "focal" mucopolysaccharidosis? 25 61
4104008 1971
39
Timing, rates and spectra of human germline mutation. 25
26656846 2016
40
Chondrodysplasias and TGFβ signaling. 25
25798233 2015
41
Specificity of latent TGF-β binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin. 25
22495824 2012
42
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 25
21683322 2011
43
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3. 25
19344874 2009
44
Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells. 25
18672106 2008
45
ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. 25
17509843 2007
46
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. 25
15368195 2004
47
A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. 25
15094112 2004
48
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. 25
12525539 2003
49
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein. 25
12429738 2003
50
Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. 25
13841169 1960

Variations for Geleophysic Dysplasia

ClinVar genetic disease variations for Geleophysic Dysplasia:

6 (show top 50) (show all 390)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL2 NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) SNV Pathogenic 693 rs113994121 9:136405747-136405747 9:133540625-133540625
2 ADAMTSL2 NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) SNV Pathogenic 694 rs113994122 9:136404921-136404921 9:133539799-133539799
3 ADAMTSL2 NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) SNV Pathogenic 695 rs113994123 9:136404923-136404923 9:133539801-133539801
4 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) SNV Pathogenic 696 rs113994124 9:136435468-136435468 9:133570346-133570346
5 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) SNV Pathogenic 697 rs113994125 9:136435623-136435623 9:133570501-133570501
6 FBN1 NM_000138.4(FBN1):c.5096A>G (p.Tyr1699Cys) SNV Pathogenic 29696 rs387906622 15:48755407-48755407 15:48463210-48463210
7 FBN1 NM_000138.4(FBN1):c.5182G>A (p.Ala1728Thr) SNV Pathogenic 29698 rs387906624 15:48755321-48755321 15:48463124-48463124
8 FBN1 NM_000138.4(FBN1):c.5087A>G (p.Tyr1696Cys) SNV Pathogenic 29699 rs387906625 15:48755416-48755416 15:48463219-48463219
9 ADAMTSL2 NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) SNV Pathogenic 30944 rs387907064 9:136402651-136402651 9:133537529-133537529
10 ADAMTSL2 NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) SNV Pathogenic 30945 rs387907065 9:136406102-136406102 9:133540980-133540980
11 ADAMTSL2 NM_014694.4(ADAMTSL2):c.234-2A>G SNV Pathogenic 427943 rs775621284 9:136403469-136403469 9:133538347-133538347
12 FBN1 NM_000138.5(FBN1):c.1468+5G>A SNV Pathogenic 42284 rs397515757 15:48807579-48807579 15:48515382-48515382
13 FBN1 NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) SNV Pathogenic 16461 rs137854480 15:48829826-48829826 15:48537629-48537629
14 FBN1 NM_000138.4(FBN1):c.5243G>T (p.Cys1748Phe) SNV Pathogenic 590974 rs1566902569 15:48752496-48752496 15:48460299-48460299
15 ADAMTSL2 NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) SNV Pathogenic 624558 rs761886575 9:136405806-136405806 9:133540684-133540684
16 FBN1 NM_000138.5(FBN1):c.3712G>A SNV Pathogenic 200022 rs794728208 15:48777571-48777571 15:48485374-48485374
17 FBN1 NM_000138.5(FBN1):c.2645C>T SNV Pathogenic 200001 rs794728195 15:48787352-48787352 15:48495155-48495155
18 FBN1 NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) SNV Pathogenic 180352 rs730880099 15:48802322-48802322 15:48510125-48510125
19 FBN1 NM_000138.4(FBN1):c.2581C>T (p.Arg861Ter) SNV Pathogenic 265401 rs140583 15:48787416-48787416 15:48495219-48495219
20 FBN1 NM_000138.4(FBN1):c.2305_2315del (p.Cys769fs) Deletion Pathogenic 625943 rs1566911957 15:48788401-48788411 15:48496204-48496214
21 FBN1 NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) SNV Pathogenic 163480 rs727503057 15:48797303-48797303 15:48505106-48505106
22 ADAMTSL2 NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) SNV Pathogenic 915302 9:136405836-136405836 9:133540714-133540714
23 FBN1 NM_000138.4(FBN1):c.5284G>A (p.Gly1762Ser) SNV Pathogenic 29697 rs387906623 15:48752455-48752455 15:48460258-48460258
24 FBN1 NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 36082 rs113871094 15:48758017-48758017 15:48465820-48465820
25 FBN1 NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) SNV Pathogenic 36107 rs193922228 15:48722933-48722933 15:48430736-48430736
26 FBN1 NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) SNV Pathogenic 36078 rs111401431 15:48760294-48760294 15:48468097-48468097
27 FBN1 NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) SNV Pathogenic 264272 rs111984349 15:48707956-48707956 15:48415759-48415759
28 FBN1 NM_000138.5(FBN1):c.1948C>T SNV Pathogenic 36042 rs193922185 15:48797234-48797234 15:48505037-48505037
29 FBN1 NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) SNV Likely pathogenic 200191 rs794728334 15:48729266-48729266 15:48437069-48437069
30 FBN1 NM_000138.4(FBN1):c.4460-8G>A SNV Likely pathogenic 36075 rs193922204 15:48760739-48760739 15:48468542-48468542
31 FBN1 NM_000138.4(FBN1):c.5183C>T (p.Ala1728Val) SNV Likely pathogenic 430150 rs1131691804 15:48755320-48755320 15:48463123-48463123
32 FBN1 NM_000138.4(FBN1):c.6183T>A (p.Cys2061Ter) SNV Likely pathogenic 626100 rs71467648 15:48730095-48730095 15:48437898-48437898
33 FBN1 NM_000138.4(FBN1):c.4049G>T (p.Cys1350Phe) SNV Likely pathogenic 549204 rs1555397718 15:48766763-48766763 15:48474566-48474566
34 FBN1 NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) SNV Likely pathogenic 439708 rs113543334 15:48725141-48725141 15:48432944-48432944
35 FBN1 NM_000138.4(FBN1):c.5546-1G>A SNV Likely pathogenic 626102 rs1566899590 15:48741091-48741091 15:48448894-48448894
36 FBN1 NM_000138.4(FBN1):c.3413G>C (p.Cys1138Ser) SNV Likely pathogenic 495590 rs397515791 15:48779559-48779559 15:48487362-48487362
37 FBN1 NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) Duplication Likely pathogenic 828001 rs1597631624 15:48902952-48902953 15:48610755-48610756
38 FBN1 NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) SNV Likely pathogenic 457162 rs1555400373 15:48807590-48807590 15:48515393-48515393
39 FBN1 NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) SNV Likely pathogenic 523334 rs1555397413 15:48762902-48762902 15:48470705-48470705
40 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
41 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) SNV Uncertain significance 365611 rs62637566 9:136438985-136438985 9:133573863-133573863
42 ADAMTSL2 NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) SNV Uncertain significance 365599 rs7868941 9:136421044-136421044 9:133555922-133555922
43 FBN1 NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) SNV Uncertain significance 42370 rs148888513 15:48758053-48758053 15:48465856-48465856
44 FBN1 NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) SNV Uncertain significance 36074 rs61730054 15:48762849-48762849 15:48470652-48470652
45 FBN1 NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) SNV Uncertain significance 42356 rs377338217 15:48764778-48764778 15:48472581-48472581
46 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2717C>T (p.Pro906Leu) SNV Uncertain significance 225293 rs969732840 9:136439089-136439089 9:133573967-133573967
47 ADAMTSL2 NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=) SNV Uncertain significance 365577 rs372783597 9:136405748-136405748 9:133540626-133540626
48 ADAMTSL2 NM_014694.4(ADAMTSL2):c.*566G>A SNV Uncertain significance 365623 rs886063652 9:136440552-136440552 9:133575430-133575430
49 ADAMTSL2 NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln) SNV Uncertain significance 365600 rs553955759 9:136433562-136433562 9:133568440-133568440
50 FBN1 NM_000138.4(FBN1):c.4336+11G>A SNV Uncertain significance 316374 rs886051249 15:48764737-48764737 15:48472540-48472540

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 TGFB1 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3
2
Show member pathways
13.52 TGFB1 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
3
Show member pathways
12.87 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1 FBN2
4
Show member pathways
12.84 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
5
Show member pathways
12.53 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
6
Show member pathways
12.53 TGFB1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
7
Show member pathways
12.22 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
8
Show member pathways
12.08 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
9
Show member pathways
11.87 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
10
Show member pathways
11.86 ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1 ADAMTS17
11 11.69 TGFB1 LTBP1 FBN1
12
Show member pathways
11.6 TGFB1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
13 11.54 TGFB1 TBRG1 LTBP3 LTBP2 LTBP1
14
Show member pathways
11.16 POFUT2 B3GLCT ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2
15 11.02 LTBP2 LTBP1 FBN2 FBN1
16 10.82 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 TGFB1 PAPLN LTBP3 LTBP2 LTBP1 FBN2
2 collagen-containing extracellular matrix GO:0062023 9.86 TGFB1 LTBP3 LTBP2 LTBP1 FBN2 FBN1
3 endoplasmic reticulum lumen GO:0005788 9.62 LTBP1 FBN1 ADAMTSL4 ADAMTSL1
4 extracellular matrix GO:0031012 9.44 TGFB1 PAPLN LTBP2 LTBP1 FBN2 FBN1
5 microfibril GO:0001527 9.35 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 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.61 TGFB1 LTBP3 LTBP2
3 cellular response to insulin-like growth factor stimulus GO:1990314 9.4 TGFB1 FBN1
4 embryonic eye morphogenesis GO:0048048 9.37 FBN2 FBN1
5 fucose metabolic process GO:0006004 9.32 POFUT2 B3GLCT
6 extracellular matrix organization GO:0030198 9.32 PAPLN FBN2 FBN1 ADAMTSL5 ADAMTSL4 ADAMTSL3
7 protein O-linked fucosylation GO:0036066 9.26 POFUT2 B3GLCT
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 calcium ion binding GO:0005509 9.8 LTBP3 LTBP2 LTBP1 FBN2 FBN1
2 extracellular matrix structural constituent GO:0005201 9.46 LTBP2 LTBP1 FBN2 FBN1
3 growth factor binding GO:0019838 9.43 LTBP3 LTBP2 LTBP1
4 transforming growth factor beta binding GO:0050431 9.37 LTBP3 LTBP1
5 extracellular matrix constituent conferring elasticity GO:0030023 9.32 FBN2 FBN1
6 microfibril binding GO:0050436 9.26 LTBP2 LTBP1 ADAMTSL5 ADAMTSL2
7 metalloendopeptidase activity GO:0004222 9.23 PAPLN ADAMTSL5 ADAMTSL4 ADAMTSL3 ADAMTSL2 ADAMTSL1

Sources for Geleophysic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....