MCID: GLP001
MIFTS: 39

Geleophysic Dysplasia malady

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

Aliases & Classifications for Geleophysic Dysplasia

About this section
Sources:
22GeneReviews, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 22 23 24 52 25 66
 
Geleophysic Dwarfism 24 52

Characteristics:

Orphanet epidemiological data:

52
geleophysic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet52 ORPHA2623
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C537677
UMLS via Orphanet67 C3489726

Summaries for Geleophysic Dysplasia

About this section
Genetics Home Reference:24 Geleophysic dysplasia is an inherited condition that affects many parts of the body. It is characterized by abnormalities involving the bones, joints, heart, and skin.

MalaCards based summary: Geleophysic Dysplasia, also known as geleophysic dwarfism, is related to acromicric dysplasia and geleophysic dysplasia 1, and has symptoms including thin vermilion border, full cheeks and round face. An important gene associated with Geleophysic Dysplasia is FBN1 (Fibrillin 1), and among its related pathways are TGF-beta signaling pathway (KEGG) and TGF Beta Signaling Pathway. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are adipose tissue and craniofacial.

GeneReviews summary for NBK11168

Related Diseases for Geleophysic Dysplasia

About this section

Graphical network of diseases related to Geleophysic Dysplasia:



Diseases related to geleophysic dysplasia

Symptoms for Geleophysic Dysplasia

About this section

HPO human phenotypes related to Geleophysic Dysplasia:

(show all 36)
id Description Frequency HPO Source Accession
1 thin vermilion border hallmark (90%) HP:0000233
2 full cheeks hallmark (90%) HP:0000293
3 round face hallmark (90%) HP:0000311
4 hypertelorism hallmark (90%) HP:0000316
5 long philtrum hallmark (90%) HP:0000343
6 anteverted nares hallmark (90%) HP:0000463
7 brachydactyly syndrome hallmark (90%) HP:0001156
8 abnormality of the metacarpal bones hallmark (90%) HP:0001163
9 limitation of joint mobility hallmark (90%) HP:0001376
10 short toe hallmark (90%) HP:0001831
11 delayed skeletal maturation hallmark (90%) HP:0002750
12 abnormality of the femur hallmark (90%) HP:0002823
13 short nose hallmark (90%) HP:0003196
14 short stature hallmark (90%) HP:0004322
15 cone-shaped epiphysis hallmark (90%) HP:0010579
16 hearing impairment typical (50%) HP:0000365
17 otitis media typical (50%) HP:0000388
18 blepharophimosis typical (50%) HP:0000581
19 platyspondyly typical (50%) HP:0000926
20 thickened skin typical (50%) HP:0001072
21 intrauterine growth retardation typical (50%) HP:0001511
22 abnormality of the voice typical (50%) HP:0001608
23 atria septal defect typical (50%) HP:0001631
24 abnormality of the aortic valve typical (50%) HP:0001646
25 abnormality of the tricuspid valve typical (50%) HP:0001702
26 mitral stenosis typical (50%) HP:0001718
27 respiratory insufficiency typical (50%) HP:0002093
28 recurrent respiratory infections typical (50%) HP:0002205
29 hepatomegaly typical (50%) HP:0002240
30 micromelia typical (50%) HP:0002983
31 round ear typical (50%) HP:0100830
32 abnormality of the larynx occasional (7.5%) HP:0001600
33 pulmonary hypertension occasional (7.5%) HP:0002092
34 apnea occasional (7.5%) HP:0002104
35 tracheal stenosis occasional (7.5%) HP:0002777
36 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Geleophysic Dysplasia

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Geleophysic Dysplasia

Genetic Tests for Geleophysic Dysplasia

About this section

Genetic tests related to Geleophysic Dysplasia:

id Genetic test Affiliating Genes
1 Geleophysic Dysplasia25 23 FBN1

Anatomical Context for Geleophysic Dysplasia

About this section

MalaCards organs/tissues related to Geleophysic Dysplasia:

34
Bone, Skin, Heart, Trachea, Eye, Liver

Animal Models for Geleophysic Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Geleophysic Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4FBN1, LTBP1, TGFB1
2MP:00053828.3FBN1, LTBP1, LTBP3, TGFB1
3MP:00053698.1ADAMTSL2, FBN1, LTBP1, TGFB1
4MP:00053908.1FBN1, LTBP1, LTBP3, TGFB1

Publications for Geleophysic Dysplasia

About this section

Articles related to Geleophysic Dysplasia:

(show all 36)
idTitleAuthorsYear
1
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. (27057656)
2016
2
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. (27068007)
2016
3
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. (25762570)
2015
4
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. (25850559)
2015
5
Novel mutations in geleophysic dysplasia. (24251637)
2013
6
Geleophysic dysplasia associated with bilateral angle closure glaucoma. (23514648)
2013
7
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
8
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. (24014090)
2013
9
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. (24192049)
2013
10
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. (23124041)
2013
11
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
12
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
13
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (21683322)
2011
14
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (21415077)
2011
15
Clinical and morphological phenotype of geleophysic dysplasia. (18510828)
2008
16
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (18677313)
2008
17
Geleophysic dysplasia: a patient with a severe form of the disorder. (16368598)
2005
18
Natural history of cardiac involvement in geleophysic dysplasia. (15690380)
2005
19
Ocular findings in geleophysic dysplasia. (15088061)
2004
20
Perthes-like changes in geleophysic dysplasia. (11943981)
2002
21
Multiple trigger fingers associated with geleophysic dysplasia. (12136306)
2002
22
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. (10440835)
1999
23
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. (9399356)
1997
24
Patients with geleophysic dysplasia are not always geleophysic. (9295082)
1997
25
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. (8723086)
1996
26
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
27
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. (8777926)
1996
28
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. (8533820)
1995
29
Geleophysic Dysplasia (20301776)
1993
30
Geleophysic dysplasia: a further case. (2019943)
1991
31
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. (2380821)
1990
32
Geleophysic dysplasia. (2090119)
1990
33
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. (3130853)
1987
34
Familial recurrence of geleophysic dysplasia. (6507494)
1984
35
Acrofacial dysplasia resembling geleophysic dysplasia. (6507496)
1984
36
Geleophysic dysplasia. (6507495)
1984

Variations for Geleophysic Dysplasia

About this section

Expression for genes affiliated with Geleophysic Dysplasia

About this section
Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for genes affiliated with Geleophysic Dysplasia

About this section

GO Terms for genes affiliated with Geleophysic Dysplasia

About this section

Cellular components related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:00015279.9FBN1, LTBP1
2proteinaceous extracellular matrixGO:00055788.3ADAMTSL2, FBN1, LTBP1, TGFB1
3extracellular matrixGO:00310128.2FBN1, LTBP1, LTBP3, TGFB1
4extracellular regionGO:00055767.5ADAMTSL2, FBN1, LTBP1, LTBP3, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:00355839.7FBN1, LTBP1
2cellular response to insulin-like growth factor stimulusGO:19903149.5FBN1, TGFB1
3cellular response to transforming growth factor beta stimulusGO:00715609.5FBN1, TGFB1
4negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.1ADAMTSL2, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1microfibril bindingGO:00504369.8ADAMTSL2, LTBP1
2transforming growth factor beta bindingGO:00504319.5LTBP1, LTBP3
3calcium ion bindingGO:00055098.6FBN1, LTBP1, LTBP3

Sources for Geleophysic Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet