MCID: GLP001
MIFTS: 39

Geleophysic Dysplasia malady

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

Aliases & Classifications for Geleophysic Dysplasia

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Sources:
21GeneReviews, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Geleophysic Dysplasia:

Name: Geleophysic Dysplasia 21 22 23 51 24 65
 
Geleophysic Dwarfism 23 51

Characteristics:

Orphanet epidemiological data:

51
geleophysic dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

Classifications:



External Ids:

Orphanet51 2623
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C537677
UMLS via Orphanet66 C3489726
UMLS65 C3489726

Summaries for Geleophysic Dysplasia

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Genetics Home Reference:23 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 FBN1 (Fibrillin 1), and among its related pathways are Integrated Pancreatic Cancer Pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone, skin and heart, and related mouse phenotypes are respiratory system and renal/urinary system.

GeneReviews summary 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 for Geleophysic Dysplasia

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Symptoms:

 51 (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 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

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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 Dysplasia22 FBN1

Anatomical Context for Geleophysic Dysplasia

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MalaCards organs/tissues related to Geleophysic Dysplasia:

33
Bone, Skin, Heart, Liver, Lung, Breast, Temporal lobe

Animal Models for Geleophysic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Geleophysic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.0ADAMTSL2, FBN1, TGFB1
2MP:00053678.6FBN1, LTBP1, TGFB1
3MP:00053828.6FBN1, LTBP1, TGFB1
4MP:00053758.5FBN1, LTBP1, TGFB1
5MP:00053697.7ADAMTSL2, FBN1, LTBP1, TGFB1

Publications for Geleophysic Dysplasia

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Articles related to Geleophysic Dysplasia:

(show all 38)
idTitleAuthorsYear
1
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. (27068007)
2016
2
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. (27057656)
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
Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family. (24192049)
2013
8
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1. (23124041)
2013
9
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. (24039088)
2013
10
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome. (24214363)
2013
11
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates. (24014090)
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
Patients with geleophysic dysplasia are not always geleophysic. (9295082)
1997
24
Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia. (9399356)
1997
25
Geleophysic dysplasia vs. Myhre syndrome. (8923952)
1996
26
Acromicric dysplasia and geleophysic dysplasia: similarities and differences. (8777926)
1996
27
Clinical and ultrastructural findings in three patients with geleophysic dysplasia. (8723086)
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
Geleophysic dysplasia. (6507495)
1984
35
Familial recurrence of geleophysic dysplasia. (6507494)
1984
36
Acrofacial dysplasia resembling geleophysic dysplasia. (6507496)
1984
37
38

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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Sources for Geleophysic Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet