MCID: GLP001
MIFTS: 45

Geleophysic Dysplasia malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Geleophysic Dysplasia

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Sources:
19GeneReviews, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Geleophysic Dysplasia, Aliases & Descriptions:

Name: Geleophysic Dysplasia 19 20 21 47 22
 
Geleophysic Dwarfism 21 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
geleophysic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 2623
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C3489726
MESH via Orphanet34 C537677

Summaries for Geleophysic Dysplasia

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Genetics Home Reference:21 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 geleophysic dysplasia 1 and geleophysic dysplasia 2, and has symptoms including thin vermilion border, full cheeks and round face. An important gene associated with Geleophysic Dysplasia is ADAMTSL2 (ADAMTS-like 2), and among its related pathways are Integrated Pancreatic Cancer Pathway and NF-KappaB Family Pathway. The compounds chondroitin sulfate and hydroxyproline have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and heart, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

GeneReviews summary for geleophys-dysp

Related Diseases for Geleophysic Dysplasia

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Graphical network of diseases related to Geleophysic Dysplasia:



Diseases related to geleophysic dysplasia

Symptoms for Geleophysic Dysplasia

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Symptoms:

 47 (show all 44)
  • round face
  • broad cheeks/cherub-like/cherubin face
  • hypertelorism
  • short/small nose
  • anteverted nares/nostrils
  • thin/retracted lips
  • long philtrum
  • philtrum flat/large/featureless/absent cupidon bows
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • metacarpal anomalies/archibald's sign
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • short foot/brachydactyly of toes
  • cardiac valvulopathy
  • delayed bone age
  • cone epiphyses/epiphysis
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • blepharophimosis/short palpebral fissures
  • broad nose/nasal bridge
  • round ear
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • platyspondyly
  • short limbs/micromelia/brachymelia
  • thick skin/pachydermia/orange skin
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal cry/voice/phonation disorder/nasal speech
  • repeat respiratory infections
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • mitral valve atresia/stenosis/narrowing
  • tricuspid valve atresia/stenosis/narrowing
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • atrial septal defect/interauricular communication
  • epiphyseal anomaly
  • death in infancy
  • intrauterine growth retardation
  • larynx/laryngeal stenosis/atresia
  • tracheal atresia/stenosis
  • apnea/sleep apnea
  • pulmonary hypertension
  • intellectual deficit/mental/psychomotor retardation/learning disability

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 defect in the atrial septum 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

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Drug clinical trials:

Search ClinicalTrials for Geleophysic Dysplasia

Search 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 Dysplasia20 22 FBN1

Anatomical Context for Geleophysic Dysplasia

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MalaCards organs/tissues related to Geleophysic Dysplasia:

31
Bone, Skin, Heart, Liver, Lung, Eye, Trachea

Animal Models for Geleophysic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9FBN2, FBN1, LTBP1
2MP:00053758.8FBN1, TGFB1, LTBP1
3MP:00053828.7LTBP1, TGFB1, FBN1
4MP:00053678.6LTBP1, TGFB1, FBN1
5MP:00053888.3FBN2, FBN1, TGFB1
6MP:00053698.2LTBP1, TGFB1, FBN1, FBN2
7MP:00053858.2LTBP1, TGFB1, FBN1, FBN2
8MP:00053788.1LTBP1, TGFB1, FBN1, FBN2

Publications for Geleophysic Dysplasia

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Articles related to Geleophysic Dysplasia:

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

Variations for Geleophysic Dysplasia

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Clinvar genetic disease variations for Geleophysic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1FBN1NM_000138.4(FBN1): c.5284G> A (p.Gly1762Ser)single nucleotide variantPathogenicrs387906623GRCh37Chr 15, 48752455: 48752455
2FBN1NM_000138.4(FBN1): c.5087A> G (p.Tyr1696Cys)single nucleotide variantPathogenicrs387906625GRCh37Chr 15, 48755416: 48755416
3ADAMTSL2NM_001145320.1(ADAMTSL2): c.215G> A (p.Arg72Gln)single nucleotide variantPathogenicrs387907064GRCh37Chr 9, 136402651: 136402651
4ADAMTSL2NM_001145320.1(ADAMTSL2): c.661C> T (p.Arg221Cys)single nucleotide variantPathogenicrs387907065GRCh37Chr 9, 136406102: 136406102
5ADAMTSL2NM_001145320.1(ADAMTSL2): c.440C> T (p.Pro147Leu)single nucleotide variantPathogenicrs113994121GRCh37Chr 9, 136405747: 136405747
6ADAMTSL2NM_001145320.1(ADAMTSL2): c.338G> A (p.Arg113His)single nucleotide variantPathogenicrs113994122GRCh37Chr 9, 136404921: 136404921
7ADAMTSL2NM_001145320.1(ADAMTSL2): c.340G> A (p.Glu114Lys)single nucleotide variantPathogenicrs113994123GRCh37Chr 9, 136404923: 136404923
8ADAMTSL2NM_001145320.1(ADAMTSL2): c.2431G> A (p.Gly811Arg)single nucleotide variantPathogenicrs113994124GRCh37Chr 9, 136435468: 136435468
9ADAMTSL2NM_001145320.1(ADAMTSL2): c.2586G> A (p.Trp862Ter)single nucleotide variantPathogenicrs113994125GRCh37Chr 9, 136435623: 136435623

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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Compounds for genes affiliated with Geleophysic Dysplasia

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Geleophysic Dysplasia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1chondroitin sulfate43 2410.5FBN1, LTBP1
2hydroxyproline43 24 1211.3TGFB1, FBN1
3hyaluronic acid43 2410.1TGFB1, FBN1
4proline439.0LTBP1, FBN1, FBN2
5cysteine438.9LTBP1, FBN1, FBN2
6tgf beta1438.8LTBP1, TGFB1, FBN1
7estrogen438.4LTBP1, TGFB1, FBN1

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
1extracellular matrixGO:00310129.5LTBP1, FBN1
2microfibrilGO:00015279.3FBN2, FBN1
3extracellular regionGO:00055767.8LTBP1, TGFB1, FBN1, FBN2
4proteinaceous extracellular matrixGO:00055787.6LTBP1, ADAMTSL2, TGFB1, FBN1, FBN2

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.4FBN1, FBN2
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305128.9ADAMTSL2, TGFB1
3sequestering of TGFbeta in extracellular matrixGO:00355838.9LTBP1, FBN1, FBN2
4positive regulation of bone mineralizationGO:00305018.9TGFB1, FBN2
5extracellular matrix organizationGO:00301988.1FBN2, FBN1, TGFB1, LTBP1

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.1FBN1, FBN2
2calcium ion bindingGO:00055098.9LTBP1, FBN1, FBN2

Products for genes affiliated with Geleophysic Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Geleophysic Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet