MCID: OST044
MIFTS: 47

Osteoglophonic Dysplasia malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 24GTR, 67UniProtKB/Swiss-Prot, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 49 11 45 22 23 24 67
Osteoglophonic Dwarfism 45 22 23 51 67
 
Ogd 45 23 67
Fairbank-Keats Syndrome 45 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
osteoglophonic dwarfism:
Inheritance: Autosomal dominant


External Ids:

OMIM49 166250
Orphanet51 2645
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C536050
UMLS via Orphanet66 C0432283
MedGen34 C0432283

Summaries for Osteoglophonic Dysplasia

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Genetics Home Reference:23 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 based summary: Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to neuronitis and gastric dilatation, and has symptoms including hypertelorism, craniosynostosis and abnormal form of the vertebral bodies. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways are Endochondral Ossification and FGFR3 mutant receptor activation. Affiliated tissues include bone and testes, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

UniProtKB/Swiss-Prot:67 Osteoglophonic dysplasia: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.

Description from OMIM:49 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1neuronitis10.1
2gastric dilatation10.1
3pain disorder10.1
4anxiety disorder10.1
5synovial chondromatosis, familial with dwarfism10.0FGFR1, FGFR3
6osteodysplasia familial anderson type10.0FGFR1, FGFR3
7gliosarcoma10.0FGFR1, FGFR3
8von economo's disease9.9FGFR2, FGFR3
9beare-stevenson cutis gyrata syndrome9.9FGFR2, FGFR3
10barbiturate abuse9.9FGFR2, FGFR3
11gonococcal iridocyclitis9.9FGFR2, FGFR3
12grade iii astrocytoma9.9FGFR1, FGFR3
13slc16a1-related hyperinsulinism9.9FGFR2, FGFR3
14pfeiffer syndrome type 1, 2 and 39.9FGFR1, FGFR2
15multiple symmetrical lipomatosis9.9FGFR2, FGFR3
16spinocerebellar ataxia 59.9FGFR1, FGFR2
17central retinal artery occlusion9.9FGFR2, FGFR3
18lupus erythematosus9.8FGFR1, FGFR2
19myasthenic syndrome, congenital, 2a, slow-channel9.8FGFR1, FGFR2
20syndromic intellectual disability9.8FGFR2, FGFR3
21autosomal genetic disease9.8FGFR2, FGFR3
22flna-related periventricular nodular heterotopia9.7FGFR1, FGFR2, FGFR3
23dystonia9.7FGFR1, FGFR2
24plagiocephaly and x-linked mental retardation9.7FGFR1, FGFR2, FGFR3
25osteoglophonic dysplasia9.7FGFR1, FGFR2, FGFR3
26muenke syndrome9.7FGFR1, FGFR2, FGFR3
27jackson-weiss syndrome9.7FGFR1, FGFR2, FGFR3
28neonatal abstinence syndrome9.7FGFR1, FGFR2, FGFR3
29testicular brenner tumor9.7FGFR1, FGFR2, FGFR3
30acrodermatitis9.7FGFR1, FGFR2, FGFR3
31thanatophoric dysplasia, type i9.7FGFR1, FGFR2, FGFR3
32apert syndrome9.7FGFR1, FGFR2, FGFR3
33hypochondroplasia9.7FGFR1, FGFR2, FGFR3
34crouzon syndrome9.7FGFR1, FGFR2, FGFR3
35yellow nail syndrome9.7FGFR1, FGFR2, FGFR3
36achondroplasia9.7FGFR1, FGFR2, FGFR3
37ladd syndrome9.7FGFR1, FGFR2, FGFR3
38saethre-chotzen syndrome9.7FGFR1, FGFR2, FGFR3
39pfeiffer syndrome9.7FGFR1, FGFR2, FGFR3
40synovitis9.7FGFR1, FGFR2, FGFR3
41bone ewing's sarcoma9.7FGFR1, FGFR2, FGFR3
42critical limb ischemia9.7FGFR1, FGFR2, FGFR3
43asphyxiating thoracic dystrophy9.6FGFR1, 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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Symptoms by clinical synopsis from OMIM:

166250

Clinical features from OMIM:

166250

Symptoms:

 51 (show all 20)
  • craniostenosis/craniosynostosis/sutural synostosis
  • 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
  • rhizomelic micromelia
  • delayed bone age
  • 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

HPO human phenotypes related to Osteoglophonic Dysplasia:

(show all 63)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 craniosynostosis hallmark (90%) HP:0001363
3 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
4 short stature hallmark (90%) HP:0004322
5 reduced number of teeth hallmark (90%) HP:0009804
6 micrognathia typical (50%) HP:0000347
7 abnormality of the pinna typical (50%) HP:0000377
8 anteverted nares typical (50%) HP:0000463
9 abnormality of the clavicle typical (50%) HP:0000889
10 delayed skeletal maturation typical (50%) HP:0002750
11 limb undergrowth typical (50%) HP:0009826
12 cryptorchidism occasional (7.5%) HP:0000028
13 choanal atresia occasional (7.5%) HP:0000453
14 brachydactyly syndrome occasional (7.5%) HP:0001156
15 scoliosis occasional (7.5%) HP:0002650
16 hernia of the abdominal wall occasional (7.5%) HP:0004299
17 abnormality of bone mineral density occasional (7.5%) HP:0004348
18 cognitive impairment occasional (7.5%) HP:0100543
19 autosomal dominant inheritance HP:0000006
20 inguinal hernia HP:0000023
21 cryptorchidism HP:0000028
22 chordee HP:0000041
23 hypospadias HP:0000047
24 high palate HP:0000218
25 malar flattening HP:0000272
26 mandibular prognathia HP:0000303
27 hypertelorism HP:0000316
28 long philtrum HP:0000343
29 low-set ears HP:0000369
30 anteverted nares HP:0000463
31 short neck HP:0000470
32 downslanted palpebral fissures HP:0000494
33 shallow orbits HP:0000586
34 unerupted tooth HP:0000706
35 delayed speech and language development HP:0000750
36 hypoplastic scapulae HP:0000882
37 platyspondyly HP:0000926
38 broad palm HP:0001169
39 broad metacarpals HP:0001230
40 craniosynostosis HP:0001363
41 failure to thrive HP:0001508
42 abnormality of the nasopharynx HP:0001739
43 nasal obstruction HP:0001742
44 broad foot HP:0001769
45 short foot HP:0001773
46 broad metatarsal HP:0001783
47 hypoplastic toenails HP:0001800
48 frontal bossing HP:0002007
49 respiratory distress HP:0002098
50 increased susceptibility to fractures HP:0002659
51 cloverleaf skull HP:0002676
52 short nose HP:0003196
53 short palm HP:0004279
54 depressed nasal bridge HP:0005280
55 pseudoarthrosis HP:0005864
56 broad phalanx HP:0006009
57 bowing of the long bones HP:0006487
58 rhizomelia HP:0008905
59 short phalanx of finger HP:0009803
60 limb undergrowth HP:0009826
61 short metacarpal HP:0010049
62 short metatarsal HP:0010743
63 hypoplasia of midface HP:0011800

Drugs & Therapeutics for Osteoglophonic Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

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Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia22 24 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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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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MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8FGFR1, FGFR2, FGFR3
2MP:00053778.8FGFR1, FGFR2, FGFR3
3MP:00053828.8FGFR1, FGFR2, FGFR3
4MP:00053718.7FGFR1, FGFR2, FGFR3
5MP:00053818.7FGFR1, FGFR2, FGFR3
6MP:00053678.6FGFR1, FGFR2, FGFR3
7MP:00053918.6FGFR1, FGFR2, FGFR3

Publications for Osteoglophonic Dysplasia

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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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UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:

67
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987
2FGFR1p.Tyr374CysVAR_030993
3FGFR1p.Cys381ArgVAR_030994

Clinvar genetic disease variations for Osteoglophonic Dysplasia:

5
id Gene Variation 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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Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for genes affiliated with Osteoglophonic Dysplasia

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Pathways related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 37)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3FGFR1, FGFR3
2
Show member pathways
9.1FGFR2, FGFR3
39.0FGFR1, FGFR2
48.5FGFR1, FGFR2, FGFR3
5
Show member pathways
8.5FGFR1, FGFR2, FGFR3
6
Show member pathways
8.5FGFR1, FGFR2, FGFR3
7
Show member pathways
8.5FGFR1, FGFR2, FGFR3
8
Show member pathways
8.5FGFR1, FGFR2, FGFR3
9
Show member pathways
8.5FGFR1, FGFR2, FGFR3
10
Show member pathways
8.5FGFR1, FGFR2, FGFR3
11
Show member pathways
8.5FGFR1, FGFR2, FGFR3
12
Show member pathways
8.5FGFR1, FGFR2, FGFR3
13
Show member pathways
8.5FGFR1, FGFR2, FGFR3
14
Show member pathways
8.5FGFR1, FGFR2, FGFR3
15
Show member pathways
8.5FGFR1, FGFR2, FGFR3
16
Show member pathways
8.5FGFR1, FGFR2, FGFR3
17
Show member pathways
8.5FGFR1, FGFR2, FGFR3
18
Show member pathways
8.5FGFR1, FGFR2, FGFR3
198.5FGFR1, FGFR2, FGFR3
208.5FGFR1, FGFR2, FGFR3
21
Show member pathways
8.5FGFR1, FGFR2, FGFR3
228.5FGFR1, FGFR2, FGFR3
23
Show member pathways
8.5FGFR1, FGFR2, FGFR3
24
Angiogenesis (CST)
Show member pathways
8.5FGFR1, FGFR2, FGFR3
258.5FGFR1, FGFR2, FGFR3
268.5FGFR1, FGFR2, FGFR3
278.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
298.5FGFR1, FGFR2, FGFR3
30
Show member pathways
8.5FGFR1, FGFR2, FGFR3
318.5FGFR1, FGFR2, FGFR3
32
Show member pathways
8.5FGFR1, FGFR2, FGFR3
33
Show member pathways
8.5FGFR1, FGFR2, FGFR3
34
Show member pathways
8.5FGFR1, FGFR2, FGFR3
35
Show member pathways
8.5FGFR1, FGFR2, FGFR3
36
Show member pathways
8.5FGFR1, FGFR2, FGFR3
378.5FGFR1, FGFR2, FGFR3

GO Terms for genes affiliated with Osteoglophonic Dysplasia

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Cellular components related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.0FGFR1, FGFR2
2integral component of plasma membraneGO:00058878.2FGFR1, FGFR2, FGFR3

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.1FGFR1, FGFR3
2lens fiber cell developmentGO:00703079.8FGFR2, FGFR3
3negative regulation of mitotic nuclear divisionGO:00458399.8FGFR2, FGFR3
4orbitofrontal cortex developmentGO:00217699.8FGFR1, FGFR2
5ventricular zone neuroblast divisionGO:00218479.8FGFR1, FGFR2
6fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
7positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
8positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
9midbrain developmentGO:00309019.7FGFR1, FGFR2
10lung-associated mesenchyme developmentGO:00604849.7FGFR1, FGFR2
11positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
12mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
14positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, FGFR3
15bone morphogenesisGO:00603499.6FGFR2, FGFR3
16chondrocyte differentiationGO:00020629.6FGFR1, FGFR3
17ureteric bud developmentGO:00016579.6FGFR1, FGFR2
18skeletal system developmentGO:00015019.6FGFR1, FGFR3
19positive regulation of ERK1 and ERK2 cascadeGO:00703749.6FGFR2, FGFR3
20bone mineralizationGO:00302829.5FGFR2, FGFR3
21lung developmentGO:00303249.5FGFR1, FGFR2
22inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
23skeletal system morphogenesisGO:00487059.3FGFR1, FGFR2
24positive regulation of MAPK cascadeGO:00434109.1FGFR1, FGFR2, FGFR3
25phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
26positive regulation of phospholipase activityGO:00105189.1FGFR1, FGFR2, FGFR3
27protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
28positive regulation of cell proliferationGO:00082849.0FGFR1, FGFR2, FGFR3
29protein phosphorylationGO:00064688.9FGFR1, FGFR2, FGFR3
30peptidyl-tyrosine phosphorylationGO:00181088.9FGFR1, FGFR2, FGFR3
31MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
32activation of MAPKK activityGO:00001868.9FGFR1, FGFR2, FGFR3
33Ras protein signal transductionGO:00072658.9FGFR1, FGFR2, FGFR3
34insulin receptor signaling pathwayGO:00082868.9FGFR1, FGFR2, FGFR3
35fibroblast growth factor receptor signaling pathwayGO:00085438.9FGFR1, FGFR2, FGFR3
36Fc-epsilon receptor signaling pathwayGO:00380958.9FGFR1, FGFR2, FGFR3
37neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR1, FGFR2, FGFR3
38epidermal growth factor receptor signaling pathwayGO:00071738.7FGFR1, FGFR2, FGFR3
39axon guidanceGO:00074118.6FGFR1, FGFR2, FGFR3
40innate immune responseGO:00450878.5FGFR1, FGFR2, FGFR3
41negative regulation of transcription from RNA polymerase II promoterGO:00001228.5FGFR1, FGFR2, FGFR3
42vascular endothelial growth factor receptor signaling pathwayGO:00480108.4FGFR1, FGFR2, FGFR3
43small GTPase mediated signal transductionGO:00072648.2FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.2FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.1FGFR1, FGFR2, FGFR3
3fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2, FGFR3
4protein tyrosine kinase activityGO:00047138.5FGFR1, FGFR2, FGFR3
5protein kinase activityGO:00046728.2FGFR1, FGFR2, FGFR3

Sources for Osteoglophonic 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