OGD
MCID: OST044
MIFTS: 55

Osteoglophonic Dysplasia (OGD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Osteoglophonic Dysplasia

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21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

MalaCards: Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to beare-stevenson cutis gyrata syndrome and antley-bixler syndrome, and has symptoms including failure to thrive/difficulties for feeding in infancy/growth delay, choanal atresia and scoliosis. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (fibroblast growth factor receptor 1), and among its related pathways are FGF signaling pathway and Endocytosis. The compounds regorafenib and chondroitin sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are renal/urinary system and normal.

Description from OMIM:47 166250

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
osteoglophonic dwarfism:
Inheritance: Autosomal dominant


Aliases & Descriptions:

osteoglophonic dysplasia 43 20 22 21 47
osteoglophonic dwarfism 43 21 49
fairbank-keats syndrome 43 21
ogd 43 21


External Ids:

OMIM47 166250
MESH via Orphanet36 C536050
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet59 254144002
UMLS via Orphanet63 C0432283

Related Diseases for Osteoglophonic Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Osteoglophonic Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1beare-stevenson cutis gyrata syndrome10.1FGFR2
2antley-bixler syndrome10.1FGFR2
3neuronitis10.1
4osteochondroma10.1FGFR3
5infectious mononucleosis10.0FGFR1, FGFR2
6cleft palate10.0FGFR1, FGFR2
7achondroplasia10.0FGFR2, FGFR3
8embryonal cancer10.0FGFR1, FGFR2
9ladd syndrome10.0FGFR3, FGFR2
10strabismus10.0FGFR3, FGFR2
11thanatophoric dysplasia10.0FGFR3, FGFR2
12acanthosis nigricans10.0FGFR2, FGFR3
13syndactyly10.0FGFR2, FGFR3
14stomach cancer10.0FGFR1, FGFR2
15transitional cell carcinoma10.0FGFR2, FGFR3
16bladder carcinoma10.0FGFR3, FGFR2
17prostate cancer10.0FGFR2, FGFR1
18primary hyperoxaluria10.0FGFR1, FGFR2
19skin disease10.0FGFR3, FGFR2
20astrocytoma10.0FGFR1, FGFR2
21jackson-weiss syndrome9.9FGFR3, FGFR1, FGFR2
22fgfr-related craniosynostosis syndromes9.9FGFR3, FGFR1, FGFR2
23muenke syndrome9.9FGFR2, FGFR1, FGFR3
24myeloma9.9FGFR3, FGFR1
25crouzon syndrome9.9FGFR2, FGFR1, FGFR3
26hypochondroplasia9.9FGFR2, FGFR1, FGFR3
27acrocephalosyndactylia9.9FGFR3, FGFR1, FGFR2
28saethre-chotzen syndrome9.9FGFR2, FGFR1, FGFR3
29synostosis9.9FGFR2, FGFR1, FGFR3
30skeletal dysplasias9.9FGFR2, FGFR1, FGFR3
31craniosynostosis9.9FGFR3, FGFR1, FGFR2
32dwarfism9.9FGFR3, FGFR1, FGFR2
33developmental disabilities9.9FGFR2, FGFR1, FGFR3
34chondrosarcoma9.9FGFR3, FGFR1, FGFR2
35colorectal cancer9.9FGFR3, FGFR1, FGFR2
36melanoma9.9FGFR2, FGFR1, FGFR3
37leukemia9.9FGFR3, FGFR1, FGFR2
38breast cancer9.9FGFR3, FGFR1, FGFR2

Graphical network of the top 20 diseases related to Osteoglophonic Dysplasia:



Diseases related to osteoglophonic dysplasia

Symptoms for Osteoglophonic Dysplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Symptoms:

49 (show all 20)
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • choanal atresia
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • short hand/brachydactyly
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • abnormal/absent ossification
  • delayed bone age
  • rhizomelic micromelia
  • hypertelorism
  • anodontia/oligodontia/hypodontia
  • abnormal vertebral size/shape
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anteverted nares/nostrils
  • prominent/bat ears
  • clavicle absent/abnormal
  • craniostenosis/craniosynostosis/sutural synostosis

Drugs & Therapeutics for Osteoglophonic Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Osteoglophonic Dysplasia

Search NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia20 22 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Osteoglophonic Dysplasia:

33
Bone, Testes

Animal Models for Osteoglophonic Dysplasia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.3FGFR3, FGFR2
2MP:00028739.1FGFR3, FGFR2
3MP:00053778.7FGFR3, FGFR1, FGFR2
4MP:00053718.7FGFR3, FGFR1, FGFR2
5MP:00053828.7FGFR2, FGFR1, FGFR3
6MP:00030128.6FGFR3, FGFR1, FGFR2
7MP:00053818.6FGFR2, FGFR1, FGFR3
8MP:00053918.5FGFR3, FGFR1, FGFR2
9MP:00053908.4FGFR2, FGFR1, FGFR3
10MP:00107718.2FGFR3, FGFR1, FGFR2

Publications for Osteoglophonic Dysplasia

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Sources:
52PubMed
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Articles related to Osteoglophonic Dysplasia:

idTitleAuthorsYear
1
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. (20236123)
2010
2
Osteoglophonic dysplasia: a case report. (20339250)
2010
3
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. (16470795)
2006
4
Osteoglophonic dysplasia: dental and orthodontic implications. (16918680)
2006
5
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (15625620)
2005
6
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. (8995175)
1997
7
Osteoglophonic dysplasia: review and further delineation of the syndrome. (8958322)
1996
8
Osteoglophonic dysplasia. (2325100)
1990
9
Osteoglophonic dysplasia. (2810341)
1989
10
Osteoglophonic dysplasia: a new case. (3409933)
1988

Variations for Osteoglophonic Dysplasia

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:

64
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987
2FGFR1p.Tyr374CysVAR_030993
3FGFR1p.Cys381ArgVAR_030994

Clinvar genetic disease variations for Osteoglophonic Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile)single nucleotide variantPathogenicrs121909632GRCh37Chr 8, 38279407: 38279407
2FGFR1NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys)single nucleotide variantPathogenicrs121909631GRCh37Chr 8, 38277214: 38277214
3FGFR1FGFR1, CYS379ARGsingle nucleotide variantPathogenic
4FGFR1NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg)single nucleotide variantPathogenicrs121909634GRCh37Chr 8, 38277194: 38277194

Expression for genes affiliated with Osteoglophonic Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteoglophonic Dysplasia

Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for genes affiliated with Osteoglophonic Dysplasia

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Sources:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 53QIAGEN, 60Thomson Reuters, 54R&D Systems, 5Cell Signaling Technology, 51PharmGKB, 61Tocris Bioscience, 57SinoBiological
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Pathways related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

(show all 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR1, FGFR2
29.1FGFR3, FGFR2
3
Show member pathways
9.0FGFR1, FGFR3
49.0FGFR3, FGFR1
5
Show member pathways
8.5FGFR2, FGFR1, FGFR3
68.5FGFR2, FGFR1, FGFR3
7
Show member pathways
8.5FGFR2, FGFR1, FGFR3
8
Show member pathways
8.5FGFR2, FGFR1, FGFR3
9
Show member pathways
8.5FGFR2, FGFR1, FGFR3
108.5FGFR2, FGFR1, FGFR3
11
Show member pathways
8.5FGFR2, FGFR1, FGFR3
12
Show member pathways
8.5FGFR2, FGFR1, FGFR3
13
Show member pathways
8.5FGFR2, FGFR1, FGFR3
14
Show member pathways
8.5FGFR2, FGFR1, FGFR3
15
Show member pathways
8.5FGFR2, FGFR1, FGFR3
16
Show member pathways
8.5FGFR2, FGFR1, FGFR3
178.5FGFR2, FGFR1, FGFR3
18
Show member pathways
8.5FGFR2, FGFR1, FGFR3
198.5FGFR2, FGFR1, FGFR3
208.5FGFR3, FGFR1, FGFR2
21
Show member pathways
8.5FGFR3, FGFR1, FGFR2
22
Show member pathways
8.5FGFR3, FGFR1, FGFR2
238.5FGFR3, FGFR1, FGFR2
24
Show member pathways
8.5FGFR3, FGFR1, FGFR2
25
Show member pathways
8.5FGFR3, FGFR1, FGFR2
26
Show member pathways
8.5FGFR3, FGFR1, FGFR2
27
Show member pathways
8.5FGFR3, FGFR1, FGFR2
28
Show member pathways
8.5FGFR3, FGFR1, FGFR2
29
Show member pathways
8.5FGFR3, FGFR1, FGFR2
30
Show member pathways
8.5FGFR3, FGFR1, FGFR2
31
Show member pathways
8.5FGFR3, FGFR1, FGFR2
32
Show member pathways
8.5FGFR3, FGFR1, FGFR2
33
Show member pathways
8.5FGFR3, FGFR1, FGFR2
34
Show member pathways
Signaling Pathways in Glioblastoma38
8.5FGFR3, FGFR1, FGFR2
35
Show member pathways
MAPK signaling pathway38
8.5FGFR3, FGFR1, FGFR2
36
Show member pathways
8.5FGFR3, FGFR1, FGFR2
37
Show member pathways
8.5FGFR3, FGFR1, FGFR2
388.5FGFR3, FGFR1, FGFR2
398.5FGFR3, FGFR1, FGFR2
40
Show member pathways
8.5FGFR3, FGFR1, FGFR2
41
Show member pathways
8.5FGFR3, FGFR1, FGFR2
42
Show member pathways
8.5FGFR3, FGFR1, FGFR2
43
Show member pathways
8.5FGFR3, FGFR1, FGFR2
44
Show member pathways
8.5FGFR3, FGFR1, FGFR2
45
Show member pathways
8.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Osteoglophonic Dysplasia

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Sources:
51PharmGKB, 11DrugBank, 45Novoseek, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1regorafenib51 1110.7FGFR2, FGFR1
2chondroitin sulfate45 2410.7FGFR2, FGFR1
3suramin45 29 1111.6FGFR1, FGFR2
4bromodeoxyuridine459.6FGFR1, FGFR2
5heparan sulfate45 2410.6FGFR1, FGFR2
6glyceraldehyde 3-phosphate459.6FGFR1, FGFR2
7agar459.5FGFR1, FGFR2
8thalidomide45 51 61 1112.5FGFR2, FGFR3
9ribonucleic acid459.4FGFR2, FGFR1
10sulfate45 2410.4FGFR2, FGFR3
11pazopanib51 1110.4FGFR1, FGFR3
1212-o-tetradecanoylphorbol 13-acetate459.4FGFR1, FGFR2
13polysaccharide459.3FGFR1, FGFR2
14guanine45 24 1111.3FGFR3, FGFR2
15pd 98,059459.3FGFR1, FGFR2
16imatinib45 51 1111.3FGFR3, FGFR1
17paclitaxel45 51 1111.2FGFR2, FGFR1
18su 5402618.9FGFR3, FGFR2, FGFR1
19pd 161570618.9FGFR2, FGFR1, FGFR3
20fiin 1 hydrochloride618.9FGFR2, FGFR1, FGFR3
21su5402458.9FGFR2, FGFR1, FGFR3
22pd 17307445 619.9FGFR3, FGFR1, FGFR2
23palifermin45 119.9FGFR2, FGFR1, FGFR3
24ponatinib51 119.9FGFR3, FGFR1, FGFR2
25phenylalanine458.9FGFR2, FGFR1, FGFR3
26phosphotyrosine458.9FGFR3, FGFR1, FGFR2
27lysine458.9FGFR3, FGFR1, FGFR2
28oligonucleotide458.9FGFR3, FGFR1, FGFR2
29vegf458.9FGFR2, FGFR1, FGFR3
30threonine458.9FGFR3, FGFR1, FGFR2
31glutamate458.9FGFR2, FGFR1, FGFR3
32cysteine458.8FGFR3, FGFR1, FGFR2
33lipid458.8FGFR2, FGFR1, FGFR3
34serine458.7FGFR2, FGFR1, FGFR3
35tyrosine458.7FGFR2, FGFR1, FGFR3
36calcium45 51 24 1111.2FGFR3, FGFR1, FGFR2

GO Terms for genes affiliated with Osteoglophonic Dysplasia

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16Gene Ontology
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Cellular components related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.5FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:0058878.2FGFR3, FGFR1, FGFR2

Biological processes related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.7FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:0218479.7FGFR2, FGFR1
3mesenchymal cell differentiationGO:0487629.7FGFR1, FGFR2
4lung-associated mesenchyme developmentGO:0604849.7FGFR2, FGFR1
5branching involved in salivary gland morphogenesisGO:0604459.7FGFR1, FGFR2
6positive regulation of cardiac muscle cell proliferationGO:0600459.7FGFR1, FGFR2
7skeletal system morphogenesisGO:0487059.6FGFR1, FGFR2
8positive regulation of cell cycleGO:0457879.6FGFR2, FGFR1
9midbrain developmentGO:0309019.6FGFR1, FGFR2
10positive regulation of mesenchymal cell proliferationGO:0020539.6FGFR1, FGFR2
11ureteric bud developmentGO:0016579.6FGFR2, FGFR1
12lens fiber cell developmentGO:0703079.5FGFR3, FGFR2
13negative regulation of mitosisGO:0458399.5FGFR3, FGFR2
14inner ear morphogenesisGO:0424729.5FGFR1, FGFR2
15bone morphogenesisGO:0603499.5FGFR3, FGFR2
16positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.4FGFR3, FGFR1
17negative regulation of epithelial cell proliferationGO:0506809.3FGFR2, FGFR3
18positive regulation of canonical Wnt signaling pathwayGO:0902639.3FGFR3, FGFR2
19chondrocyte differentiationGO:0020629.3FGFR1, FGFR3
20angiogenesisGO:0015259.2FGFR2, FGFR1
21positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGFR3, FGFR2
22MAPK cascadeGO:0001659.1FGFR1, FGFR3
23cell-cell signalingGO:0072679.1FGFR3, FGFR2
24skeletal system developmentGO:0015019.0FGFR3, FGFR1
25in utero embryonic developmentGO:0017019.0FGFR1, FGFR2
26positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
27positive regulation of MAPK cascadeGO:0434108.9FGFR3, FGFR1, FGFR2
28peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
29phosphatidylinositol-mediated signalingGO:0480158.9FGFR3, FGFR1, FGFR2
30insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
31protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
32fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
33Fc-epsilon receptor signaling pathwayGO:0380958.9FGFR3, FGFR1, FGFR2
34epidermal growth factor receptor signaling pathwayGO:0071738.9FGFR2, FGFR1, FGFR3
35neurotrophin TRK receptor signaling pathwayGO:0480118.9FGFR2, FGFR1, FGFR3
36positive regulation of cell proliferationGO:0082848.8FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:0001228.8FGFR3, FGFR1, FGFR2
38innate immune responseGO:0450878.7FGFR3, FGFR1, FGFR2

Molecular functions related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.0FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.6FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.5FGFR3, FGFR1, FGFR2
4ATP bindingGO:0055248.5FGFR3, FGFR1, FGFR2
5protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Osteoglophonic Dysplasia

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  • Antibodies
  • Proteins
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Sources for Osteoglophonic Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet