OGD
MCID: OST044
MIFTS: 52

Osteoglophonic Dysplasia (OGD) malady

Bone diseases, Fetal diseases categories

Summaries for Osteoglophonic Dysplasia

About this section
Sources:
21Genetics Home Reference, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 neuronitis and kallmann syndrome 2, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, prominent/bat ears and rhizomelic micromelia. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (fibroblast growth factor receptor 1), and among its related pathways are Nanog in Mammalian ESC Pluripotency and Endochondral Ossification. The compounds SU4984 and Regorafenib have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related mouse phenotypes are integument and limbs/digits/tail.

Description from OMIM:46 166250

Aliases & Classifications for Osteoglophonic Dysplasia

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
osteoglophonic dwarfism:
Inheritance: Autosomal dominant


Aliases & Descriptions:

osteoglophonic dysplasia 42 20 22 21 46
osteoglophonic dwarfism 42 21 48
fairbank-keats syndrome 42 21
ogd 42 21


External Ids:

OMIM46 166250
MESH via Orphanet35 C536050
ICD10 via Orphanet26 Q87.1
SNOMED-CT via Orphanet57 254144002
UMLS via Orphanet61 C0432283

Related Diseases for Osteoglophonic Dysplasia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.0
2kallmann syndrome 210.0FGFR1
3atopy10.0FLG
4kallmann syndrome10.0FGFR1
5osteochondroma10.0FGFR3
6beare-stevenson cutis gyrata syndrome10.0FGFR2
7keratosis10.0FLG
8antley-bixler syndrome10.0FGFR2
9cervical cancer10.0FGFR3
10infectious mononucleosis10.0FGFR2, FGFR1
11achondroplasia10.0FGFR3, FGFR2
12syndactyly10.0FGFR3, FGFR2
13ladd syndrome10.0FGFR3, FGFR2
14thanatophoric dysplasia10.0FGFR2, FGFR3
15hepatocellular carcinoma10.0FGFR1, FGFR2
16bladder carcinoma10.0FGFR2, FGFR3
17acanthosis nigricans10.0FGFR3, FGFR2
18strabismus10.0FGFR3, FGFR2
19retinoblastoma10.0FGFR3, FGFR2
20cholesteatoma10.0FGFR2, FLG
21transitional cell carcinoma10.0FGFR2, FGFR3
22embryonal cancer10.0FGFR2, FGFR1
23fgfr-related craniosynostosis syndromes10.0FGFR1, FGFR2, FGFR3
24jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
25muenke syndrome10.0FGFR3, FGFR1, FGFR2
26crouzon syndrome10.0FGFR3, FGFR2, FGFR1
27hypochondroplasia10.0FGFR1, FGFR2, FGFR3
28acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
29saethre-chotzen syndrome10.0FGFR3, FGFR2, FGFR1
30skeletal dysplasias10.0FGFR2, FGFR3, FGFR1
31synostosis10.0FGFR3, FGFR1, FGFR2
32developmental disabilities10.0FGFR1, FGFR2, FGFR3
33craniosynostosis10.0FGFR2, FGFR1, FGFR3
34dwarfism10.0FGFR3, FGFR2, FGFR1
35skin disease10.0FLG, FGFR2, FGFR3
36chondrosarcoma10.0FGFR1, FGFR2, FGFR3
37squamous cell carcinoma10.0FGFR3, FLG, FGFR2

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



Diseases related to osteoglophonic dysplasia

Clinical Features for Osteoglophonic Dysplasia

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

166250

Clinical synopsis from OMIM:

166250

Symptoms:

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

Drugs & Therapeutics for Osteoglophonic Dysplasia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Osteoglophonic Dysplasia

Drug clinical trials:

Search ClinicalTrials for Osteoglophonic Dysplasia

Search NIH Clinical Center for Osteoglophonic Dysplasia

Search CenterWatch for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia20 22 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

32
Bone, Testes

Animal Models for Osteoglophonic Dysplasia or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.2FGFR1, FGFR2
2MP:00053718.4FGFR3, FGFR1, FGFR2
3MP:00053778.1FGFR3, FGFR1, FGFR2, FLG
4MP:00053828.1FLG, FGFR2, FGFR1, FGFR3
5MP:00053878.0FLG, FGFR2, FGFR1, FGFR3
6MP:00053788.0FGFR3, FGFR1, FGFR2, FLG
7MP:00053847.7FLG, FGFR2, FGFR1, FGFR3

Publications for Osteoglophonic Dysplasia

About this section

Genetic Variations for Osteoglophonic Dysplasia

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Osteoglophonic Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987
2FGFR1p.Tyr374CysVAR_030993
3FGFR1p.Cys381ArgVAR_030994

Expression for genes affiliated with Osteoglophonic Dysplasia

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 53Reactome, 4Cell Signaling Technology, 52R&D Systems, 49PharmGKB, 12EMD Millipore, 59Tocris Bioscience
See all sources

Pathways related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

(show all 41)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9FGFR3
29.3FGFR3, FGFR1
39.1FGFR1, FGFR2
4
Hide members
8.5FGFR2, FGFR1, FGFR3
5
Hide members
8.5FGFR2, FGFR1, FGFR3
6
Hide members
8.5FGFR3, FGFR1, FGFR2
7
Hide members
8.5FGFR2, FGFR1, FGFR3
88.5FGFR3, FGFR1, FGFR2
98.5FGFR2, FGFR1, FGFR3
10
Hide members
8.5FGFR3, FGFR1, FGFR2
11
Hide members
8.5FGFR3, FGFR1, FGFR2
128.5FGFR2, FGFR1, FGFR3
13
Hide members
8.5FGFR3, FGFR1, FGFR2
14
Hide members
8.5FGFR3, FGFR1, FGFR2
15
Hide members
8.5FGFR3, FGFR1, FGFR2
16
Hide members
8.5FGFR2, FGFR1, FGFR3
17
Hide members
8.5FGFR2, FGFR1, FGFR3
18
Hide members
8.5FGFR3, FGFR1, FGFR2
19
Hide members
8.5FGFR3, FGFR1, FGFR2
20
Hide members
8.5FGFR2, FGFR1, FGFR3
21
Hide members
8.5FGFR3, FGFR1, FGFR2
228.5FGFR3, FGFR1, FGFR2
238.5FGFR2, FGFR1, FGFR3
24
Hide members
8.5FGFR3, FGFR1, FGFR2
258.5FGFR2, FGFR1, FGFR3
268.5FGFR3, FGFR1, FGFR2
278.5FGFR2, FGFR1, FGFR3
28
Hide members
8.5FGFR3, FGFR1, FGFR2
29
Hide members
8.5FGFR2, FGFR1, FGFR3
30
Hide members
8.5FGFR3, FGFR1, FGFR2
31
Development FGF-family signaling
Hide members
8.5FGFR3, FGFR1, FGFR2
32
Hide members
8.5FGFR3, FGFR1, FGFR2
33
Hide members
8.5FGFR2, FGFR1, FGFR3
34
Hide members
8.5FGFR3, FGFR1, FGFR2
35
Hide members
8.5FGFR2, FGFR1, FGFR3
36
Hide members
8.5FGFR3, FGFR1, FGFR2
37
Hide members
8.5FGFR3, FGFR1, FGFR2
38
Hide members
8.5FGFR2, FGFR1, FGFR3
39
Hide members
8.5FGFR3, FGFR1, FGFR2
40
Hide members
8.5FGFR2, FGFR1, FGFR3
418.5FGFR3, FGFR1, FGFR2

Compounds for genes affiliated with Osteoglophonic Dysplasia

About this section
Sources:
11DrugBank, 44Novoseek, 24HMDB, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR
See all sources

Compounds related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1SU4984119.5FGFR2, FGFR1
2Regorafenib119.5FGFR1, FGFR2
3nickel44 2410.4FGFR2, FLG
4steroid449.4FGFR2, FLG
5chondroitin sulfate44 2410.3FGFR2, FGFR1
6thalidomide44 49 59 1112.3FGFR3, FGFR2
7suramin44 28 1111.1FGFR1, FGFR2
8latex449.0FGFR2, FLG
9bromodeoxyuridine449.0FGFR1, FGFR2, FLG
10su 5402598.9FGFR3, FGFR2, FGFR1
11pd 161570598.9FGFR2, FGFR1, FGFR3
12fiin 1 hydrochloride598.9FGFR2, FGFR1, FGFR3
13su5402448.9FGFR2, FGFR1, FGFR3
14pd 17307444 599.9FGFR3, FGFR1, FGFR2
15palifermin44 119.9FGFR2, FGFR1, FGFR3
16Ponatinib 118.9FGFR3, FGFR1, FGFR2
17phenylalanine448.9FGFR3, FGFR1, FGFR2
18phosphotyrosine448.8FGFR2, FGFR1, FGFR3
19lysine448.8FGFR2, FGFR1, FGFR3
20oligonucleotide448.8FGFR2, FGFR1, FGFR3
21sulfate44 249.7FGFR2, FGFR3
22nitric oxide44 11 2410.7FGFR1, FGFR2, FLG
23vegf448.7FGFR3, FGFR1, FGFR2
24arginine448.7FLG, FGFR2, FGFR3
25retinoic acid44 249.6FGFR1, FGFR2, FLG
26threonine448.6FGFR2, FGFR1, FGFR3
27cysteine448.3FLG, FGFR2, FGFR1, FGFR3
28lipid448.3FGFR3, FGFR1, FGFR2, FLG
29serine448.3FLG, FGFR2, FGFR1, FGFR3
30tyrosine448.3FGFR3, FGFR1, FGFR2, FLG
31calcium44 49 11 2411.3FLG, FGFR2, FGFR1, FGFR3

GO Terms for genes affiliated with Osteoglophonic Dysplasia

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Osteoglophonic Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:0160238.0FGFR3, FGFR1, FGFR2, FLG

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.7FGFR3, FGFR1
2chondrocyte differentiationGO:0020629.6FGFR3, FGFR1
3fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.5FGFR1, FGFR2
4ventricular zone neuroblast divisionGO:0218479.5FGFR1, FGFR2
5mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
6lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
7branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
8positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
9skeletal system morphogenesisGO:0487059.4FGFR2, FGFR1
10negative regulation of mitosisGO:0458399.4FGFR2, FGFR3
11positive regulation of cell cycleGO:0457879.4FGFR2, FGFR1
12lens fiber cell developmentGO:0703079.4FGFR3, FGFR2
13midbrain developmentGO:0309019.4FGFR1, FGFR2
14positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
15bone morphogenesisGO:0603499.3FGFR3, FGFR2
16MAPK cascadeGO:0001659.3FGFR3, FGFR1
17ureteric bud developmentGO:0016579.3FGFR2, FGFR1
18skeletal system developmentGO:0015019.3FGFR3, FGFR1
19inner ear morphogenesisGO:0424729.2FGFR1, FGFR2
20positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.2FGFR3, FGFR2
21positive regulation of phospholipase activityGO:0105188.9FGFR3, FGFR1, FGFR2
22peptidyl-tyrosine phosphorylationGO:0181088.9FGFR3, FGFR1, FGFR2
23positive regulation of MAPK cascadeGO:0434108.9FGFR2, FGFR1, FGFR3
24phosphatidylinositol-mediated signalingGO:0480158.9FGFR2, FGFR1, FGFR3
25insulin receptor signaling pathwayGO:0082868.9FGFR2, FGFR1, FGFR3
26protein autophosphorylationGO:0467778.9FGFR3, FGFR1, FGFR2
27fibroblast growth factor receptor signaling pathwayGO:0085438.9FGFR2, FGFR1, FGFR3
28Fc-epsilon receptor signaling pathwayGO:0380958.8FGFR3, FGFR1, FGFR2
29epidermal growth factor receptor signaling pathwayGO:0071738.8FGFR2, FGFR1, FGFR3
30neurotrophin TRK receptor signaling pathwayGO:0480118.8FGFR2, FGFR1, FGFR3
31positive regulation of ERK1 and ERK2 cascadeGO:0703748.7FGFR3, FGFR2
32positive regulation of cell proliferationGO:0082848.7FGFR3, FGFR1, FGFR2
33negative regulation of transcription from RNA polymerase II promoterGO:0001228.6FGFR2, FGFR1, FGFR3
34innate immune responseGO:0450878.4FGFR2, FGFR1, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.5FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.4FGFR2, FGFR1, FGFR3
4protein tyrosine kinase activityGO:0047138.2FGFR3, FGFR1, FGFR2

Products for genes affiliated with Osteoglophonic Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteoglophonic Dysplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet