MCID: GLP001
MIFTS: 38

Geleophysic Dysplasia malady

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

Aliases & Classifications for Geleophysic Dysplasia

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Sources:
23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 23 24 25 54 27 68
 
Geleophysic Dwarfism 25 54

Characteristics:

Orphanet epidemiological data:

54
geleophysic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet54 ORPHA2623
UMLS via Orphanet69 C3489726
ICD10 via Orphanet31 Q87.1
MESH via Orphanet40 C537677

Summaries for Geleophysic Dysplasia

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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.

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 and NF-KappaB Family Pathway. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are adipose tissue and muscle.

GeneReviews for NBK11168

Related Diseases for Geleophysic Dysplasia

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Graphical network of diseases related to Geleophysic Dysplasia:



Diseases related to geleophysic dysplasia

Symptoms & Phenotypes for Geleophysic Dysplasia

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Human phenotypes related to Geleophysic Dysplasia:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 thin vermilion border64 hallmark (90%) HP:0000233
2 full cheeks64 hallmark (90%) HP:0000293
3 round face64 hallmark (90%) HP:0000311
4 hypertelorism64 hallmark (90%) HP:0000316
5 long philtrum64 hallmark (90%) HP:0000343
6 anteverted nares64 hallmark (90%) HP:0000463
7 brachydactyly syndrome64 hallmark (90%) HP:0001156
8 abnormality of the metacarpal bones64 hallmark (90%) HP:0001163
9 limitation of joint mobility64 hallmark (90%) HP:0001376
10 short toe64 hallmark (90%) HP:0001831
11 delayed skeletal maturation64 hallmark (90%) HP:0002750
12 abnormality of the femur64 hallmark (90%) HP:0002823
13 short nose64 hallmark (90%) HP:0003196
14 short stature64 hallmark (90%) HP:0004322
15 cone-shaped epiphysis64 hallmark (90%) HP:0010579
16 hearing impairment64 typical (50%) HP:0000365
17 otitis media64 typical (50%) HP:0000388
18 blepharophimosis64 typical (50%) HP:0000581
19 platyspondyly64 typical (50%) HP:0000926
20 thickened skin64 typical (50%) HP:0001072
21 intrauterine growth retardation64 typical (50%) HP:0001511
22 abnormality of the voice64 typical (50%) HP:0001608
23 atria septal defect64 typical (50%) HP:0001631
24 abnormality of the aortic valve64 typical (50%) HP:0001646
25 abnormality of the tricuspid valve64 typical (50%) HP:0001702
26 mitral stenosis64 typical (50%) HP:0001718
27 respiratory insufficiency64 typical (50%) HP:0002093
28 recurrent respiratory infections64 typical (50%) HP:0002205
29 hepatomegaly64 typical (50%) HP:0002240
30 micromelia64 typical (50%) HP:0002983
31 round ear64 typical (50%) HP:0100830
32 abnormality of the larynx64 occasional (7.5%) HP:0001600
33 pulmonary hypertension64 occasional (7.5%) HP:0002092
34 apnea64 occasional (7.5%) HP:0002104
35 tracheal stenosis64 occasional (7.5%) HP:0002777
36 cognitive impairment64 occasional (7.5%) HP:0100543

MGI Mouse Phenotypes related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.5FBN1, LTBP1, TGFB1
2MP:00053698.9ADAMTSL2, FBN1, LTBP1, TGFB1
3MP:00053828.8FBN1, LTBP1, LTBP3, TGFB1
4MP:00053908.1FBN1, LTBP1, LTBP3, TGFB1

Drugs & Therapeutics for Geleophysic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Geleophysic Dysplasia

Genetic Tests for Geleophysic Dysplasia

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Genetic tests related to Geleophysic Dysplasia:

id Genetic test Affiliating Genes
1 Geleophysic Dysplasia27 24 FBN1

Anatomical Context for Geleophysic Dysplasia

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MalaCards organs/tissues related to Geleophysic Dysplasia:

36
Bone, Skin, Heart, Trachea, Eye, Liver

Publications for Geleophysic Dysplasia

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Articles related to Geleophysic Dysplasia:

(show all 37)
idTitleAuthorsYear
1
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. (27935852)
2017
2
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. (27057656)
2016
3
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. (27068007)
2016
4
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia: A novel mouse model providing insights on geleophysic dysplasia. (25762570)
2015
5
Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene. (25850559)
2015
6
Novel mutations in geleophysic dysplasia. (24251637)
2013
7
Geleophysic dysplasia associated with bilateral angle closure glaucoma. (23514648)
2013
8
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
9
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. (24014090)
2013
10
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. (24192049)
2013
11
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. (23124041)
2013
12
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
13
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. (23133647)
2012
14
Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (21683322)
2011
15
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. (21415077)
2011
16
Clinical and morphological phenotype of geleophysic dysplasia. (18510828)
2008
17
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. (18677313)
2008
18
Geleophysic dysplasia: a patient with a severe form of the disorder. (16368598)
2005
19
Natural history of cardiac involvement in geleophysic dysplasia. (15690380)
2005
20
Ocular findings in geleophysic dysplasia. (15088061)
2004
21
Perthes-like changes in geleophysic dysplasia. (11943981)
2002
22
Multiple trigger fingers associated with geleophysic dysplasia. (12136306)
2002
23
Geleophysic dysplasia: 7-year follow-up study of a patient with an intermediate form. (10440835)
1999
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. (9399356)
1997
25
Patients with geleophysic dysplasia are not always geleophysic. (9295082)
1997
26
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. (8723086)
1996
27
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
28
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. (8777926)
1996
29
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence. (8533820)
1995
30
Geleophysic Dysplasia (20301776)
1993
31
Geleophysic dysplasia: a further case. (2019943)
1991
32
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. (2380821)
1990
33
Geleophysic dysplasia. (2090119)
1990
34
Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage. (3130853)
1987
35
Familial recurrence of geleophysic dysplasia. (6507494)
1984
36
Acrofacial dysplasia resembling geleophysic dysplasia. (6507496)
1984
37
Geleophysic dysplasia. (6507495)
1984

Variations for Geleophysic Dysplasia

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Expression for genes affiliated with Geleophysic Dysplasia

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Search GEO for disease gene expression data for Geleophysic Dysplasia.

Pathways for genes affiliated with Geleophysic Dysplasia

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GO Terms for genes affiliated with Geleophysic Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:000152710.1FBN1, LTBP1
2extracellular matrixGO:00310128.8FBN1, LTBP1, LTBP3, TGFB1
3extracellular regionGO:00055768.2ADAMTSL2, FBN1, LTBP1, LTBP3, TGFB1
4proteinaceous extracellular matrixGO:00055788.2ADAMTSL2, FBN1, LTBP1, TGFB1

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to insulin-like growth factor stimulusGO:19903149.7FBN1, TGFB1
2cellular response to transforming growth factor beta stimulusGO:00715609.7FBN1, TGFB1
3sequestering of TGFbeta in extracellular matrixGO:00355839.5FBN1, LTBP1
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:00504369.7ADAMTSL2, LTBP1
2transforming growth factor beta bindingGO:00504319.3LTBP1, LTBP3
3calcium ion bindingGO:00055099.2FBN1, LTBP1, LTBP3

Sources for Geleophysic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet