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:
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 . Affiliated tissues include skin, bone 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 the top 20 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
Skin, Bone, Heart, Lung, Liver, Breast, T cells

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 34)
idTitleAuthorsYear
1
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. (27071392)
2016
2
A Randomized, Double-Blind, Placebo-Controlled Phase III Trial of Duloxetine Monotherapy in Japanese Patients with Chronic Low Back Pain. (27220033)
2016
3
A Case Report of an Elderly Woman With Thrombocytopenia and Bilateral Lung Infiltrates: A Rare Association Between Diffuse Alveolar Hemorrhage and Idiopathic Thrombocytopenic Purpura. (26683938)
2015
4
Diagnostic value of MR imaging in the Lewis-Sumner syndrome: a case series. (24825730)
2014
5
Common variants in the CDH7 gene are associated with major depressive disorder in the Han Chinese population. (24554215)
2014
6
Enhancement of interferon induction by ORF3 product of hepatitis E virus. (24850742)
2014
7
A genetic association study of single nucleotide polymorphisms in GNI^3 and COMT in elderly patients with irritable bowel syndrome. (25037115)
2014
8
Cellular localization and characterization of cytosolic binding partners for Gla domain-containing proteins PRRG4 and PRRG2. (23873930)
2013
9
Continuous veno-venous hemofiltration for massive rhabdomyolysis after malignant hyperthermia: report of 2 cases. (23506280)
2013
10
Lack of association of apolipoprotein E (Apo E) I/2/I/3/I/4 polymorphisms with primary open-angle glaucoma: a meta-analysis from 1916 cases and 1756 controls. (24023758)
2013
11
The anesthetic implications of illicit opioid abuse. (21239906)
2011
12
Airway clearance modalities in neuromuscular disease. (20113989)
2010
13
Lymphopenia as a prognostic factor in patients with peripheral T-cell lymphoma, unspecified. (20849388)
2010
14
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia. (19581089)
2009
15
Enhanced activity of very low density lipoprotein receptor II promotes SGC7901 cell proliferation and migration. (19167408)
2009
16
Modulation of human immunodeficiency virus type 1 infectivity through incorporation of tetraspanin proteins. (17989173)
2008
17
Breast metastasis in a pregnant woman with alveolar rhabdomyosarcoma of the upper extremity. (17869405)
2008
18
Novel male hormonal contraceptive combinations: the hormonal and spermatogenic effects of testosterone and levonorgestrel combined with a 5alpha-reductase inhibitor or gonadotropin-releasing hormone antagonist. (15509637)
2005
19
Enzymes involved in the metabolism of the carcinogen 2-nitroanisole: evidence for its oxidative detoxication by human cytochromes P450. (15144223)
2004
20
Aortitis. (12003723)
2002
21
Acute mitochondrial and chronic toxicological effects of 1-methyl-4-phenylpyridinium in human neuroblastoma cells. (12428729)
2002
22
Sequential interferon-alpha2b, interleukin-2 and fotemustine for patients with metastatic melanoma. (11095409)
2000
23
Cutting edge: a soluble form of CTLA-4 in patients with autoimmune thyroid disease. (10799854)
2000
24
No association between apolipoprotein A-IV codon 360 mutation and late-onset Alzheimer's disease in the Japanese population. (10559562)
1999
25
Sp family members preferentially interact with the promoter proximal repeat within the HTLV-I enhancer. (9209281)
1997
26
Human calcium-calmodulin dependent protein kinase I: cDNA cloning, domain structure and activation by phosphorylation at threonine-177 by calcium-calmodulin dependent protein kinase I kinase. (7641687)
1995
27
Shave excision and phenol peeling of generalized verrucous epidermal nevus. (7633819)
1995
28
Immunoglobulin-Fc binding factor in human male reproductive organs. (1814241)
1991
29
The management of hepatic coma: A continuing problem. (4886059)
1968
30
Lymphocytic meningo-encephalitis with myalgia and rash; a new exanthem? (13377669)
1956
31
Middle lobe syndrome produced by foreign body in lower third of esophagus. (13044637)
1953
32
A follow-up study of patient with thromboangiitis obliterans (Buerger's disease). (15395864)
1949
33
34

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