MCID: OST044
MIFTS: 49

Osteoglophonic Dysplasia malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 52Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 50 46 23 24 68 25 12
Osteoglophonic Dwarfism 46 23 24 52 68
 
Ogd 46 24 68
Fairbank-Keats Syndrome 46 24

Characteristics:

Orphanet epidemiological data:

52
osteoglophonic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

62
osteoglophonic dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 166250
Orphanet52 ORPHA2645
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C536050
UMLS via Orphanet67 C0432283
MedGen35 C0432283

Summaries for Osteoglophonic Dysplasia

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Genetics Home Reference:24 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 hypertrophic pyloric stenosis and pyloric stenosis, 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

UniProtKB/Swiss-Prot:68 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:50 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 39)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic pyloric stenosis10.0
2pyloric stenosis10.0
3osteopetrosis and infantile neuroaxonal dystrophy10.0FGFR1, FGFR3
4syphilitic myelopathy10.0FGFR1, FGFR3
5neuronitis10.0
6grade iii astrocytoma9.9FGFR1, FGFR3
7mite infestation9.8FGFR2, FGFR3
8apert syndrome9.8FGFR2, FGFR3
9adult astrocytic tumour9.8FGFR1, FGFR3
10accommodative esotropia9.8FGFR2, FGFR3
11crouzon syndrome with acanthosis nigricans9.8FGFR2, FGFR3
12glaucomatocyclitic crisis9.8FGFR2, FGFR3
13pfn1-related amyotrophic lateral sclerosis9.8FGFR1, FGFR2
14scleredema adultorum9.7FGFR2, FGFR3
15uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
16weill-marchesani syndrome9.7FGFR1, FGFR2
17progeria9.6FGFR1, FGFR2
18serous conjunctivitis except viral9.6FGFR2, FGFR3
19myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6FGFR1, FGFR2
20y-linked disease9.5FGFR2, FGFR3
21mixed germ cell-sex cord neoplasm9.5FGFR2, FGFR3
22glycogen storage disease ix9.3FGFR1, FGFR2
23flnb-related disorders9.3FGFR1, FGFR2, FGFR3
24plasmalogens synthesis deficiency isolated9.3FGFR1, FGFR2, FGFR3
25trigonocephaly 19.3FGFR1, FGFR2, FGFR3
26bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
27hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
28central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
29thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
30antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
31beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
32thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
33ischemic bone disease9.3FGFR1, FGFR2, FGFR3
34hypochondroplasia9.3FGFR1, FGFR2, FGFR3
35craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
36jackson-weiss syndrome9.3FGFR1, FGFR2, FGFR3
37hypertrophic cardiomyopathy9.3FGFR1, FGFR2, FGFR3
38crohn's disease9.2FGFR1, FGFR2, FGFR3
39cervical cancer, somatic9.2FGFR2, FGFR3

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:

 52 (show all 20)
  • inguinal hernia
  • cryptorchidism
  • hypertelorism
  • micrognathia
  • protruding ear
  • choanal atresia
  • anteverted nares
  • abnormality of the clavicle
  • brachydactyly syndrome
  • intellectual disability
  • craniosynostosis
  • failure to thrive in infancy
  • scoliosis
  • delayed skeletal maturation
  • abnormal form of the vertebral bodies
  • severe short stature
  • multiple unerupted teeth
  • rhizomelia
  • reduced number of teeth
  • abnormal bone ossification

HPO human phenotypes related to Osteoglophonic Dysplasia:

(show all 62)
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 inguinal hernia HP:0000023
20 cryptorchidism HP:0000028
21 chordee HP:0000041
22 hypospadias HP:0000047
23 high palate HP:0000218
24 malar flattening HP:0000272
25 mandibular prognathia HP:0000303
26 hypertelorism HP:0000316
27 long philtrum HP:0000343
28 low-set ears HP:0000369
29 anteverted nares HP:0000463
30 short neck HP:0000470
31 downslanted palpebral fissures HP:0000494
32 shallow orbits HP:0000586
33 unerupted tooth HP:0000706
34 delayed speech and language development HP:0000750
35 hypoplastic scapulae HP:0000882
36 platyspondyly HP:0000926
37 broad palm HP:0001169
38 broad metacarpals HP:0001230
39 craniosynostosis HP:0001363
40 failure to thrive HP:0001508
41 abnormality of the nasopharynx HP:0001739
42 nasal obstruction HP:0001742
43 broad foot HP:0001769
44 short foot HP:0001773
45 broad metatarsal HP:0001783
46 hypoplastic toenails HP:0001800
47 frontal bossing HP:0002007
48 respiratory distress HP:0002098
49 increased susceptibility to fractures HP:0002659
50 cloverleaf skull HP:0002676
51 short nose HP:0003196
52 short palm HP:0004279
53 depressed nasal bridge HP:0005280
54 pseudoarthrosis HP:0005864
55 broad phalanx HP:0006009
56 bowing of the long bones HP:0006487
57 rhizomelia HP:0008905
58 short phalanx of finger HP:0009803
59 limb undergrowth HP:0009826
60 short metacarpal HP:0010049
61 short metatarsal HP:0010743
62 midface retrusion 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 Dysplasia25 23 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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MalaCards organs/tissues related to Osteoglophonic Dysplasia:

34
Bone

Animal Models for Osteoglophonic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8FGFR1, FGFR2, FGFR3
2MP:00053828.8FGFR1, FGFR2, FGFR3
3MP:00030128.7FGFR1, FGFR2, FGFR3
4MP:00053818.7FGFR1, FGFR2, FGFR3
5MP:00053918.6FGFR1, FGFR2, FGFR3
6MP:00053678.5FGFR1, FGFR2, FGFR3
7MP:00053718.5FGFR1, FGFR2, FGFR3

Publications for Osteoglophonic Dysplasia

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Articles related to Osteoglophonic Dysplasia:

(show all 11)
idTitleAuthorsYear
1
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. (27599310)
2016
2
Osteoglophonic dysplasia: a case report. (20339250)
2010
3
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. (20236123)
2010
4
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. (16470795)
2006
5
Osteoglophonic dysplasia: dental and orthodontic implications. (16918680)
2006
6
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. (15625620)
2005
7
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. (8995175)
1997
8
Osteoglophonic dysplasia: review and further delineation of the syndrome. (8958322)
1996
9
Osteoglophonic dysplasia. (2325100)
1990
10
Osteoglophonic dysplasia. (2810341)
1989
11
Osteoglophonic dysplasia: a new case. (3409933)
1988

Variations for Osteoglophonic Dysplasia

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

68
id Symbol AA change Variation ID SNP ID
1FGFR1p.Asn330IleVAR_030987rs121909632
2FGFR1p.Tyr374CysVAR_030993rs121909631
3FGFR1p.Cys381ArgVAR_030994rs121909634

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 42)
idSuper pathwaysScoreTop Affiliating Genes
19.3FGFR1, FGFR3
29.3FGFR1, FGFR3
39.0FGFR1, FGFR2
4
Show member pathways
8.5FGFR1, 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
88.5FGFR1, 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
19
Show member pathways
8.5FGFR1, FGFR2, FGFR3
20
Show member pathways
8.5FGFR1, FGFR2, FGFR3
218.5FGFR1, FGFR2, FGFR3
22
Show member pathways
8.5FGFR1, FGFR2, FGFR3
238.5FGFR1, FGFR2, FGFR3
248.5FGFR1, FGFR2, FGFR3
258.5FGFR1, FGFR2, FGFR3
26
Show member pathways
8.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
288.5FGFR1, FGFR2, FGFR3
298.5FGFR1, FGFR2, FGFR3
308.5FGFR1, FGFR2, FGFR3
31
Show member pathways
8.5FGFR1, 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
358.5FGFR1, FGFR2, FGFR3
36
Show member pathways
8.5FGFR1, FGFR2, FGFR3
378.5FGFR1, FGFR2, FGFR3
38
Show member pathways
8.5FGFR1, FGFR2, FGFR3
39
Show member pathways
8.5FGFR1, FGFR2, FGFR3
40
Show member pathways
8.5FGFR1, FGFR2, FGFR3
41
Show member pathways
8.5FGFR1, FGFR2, FGFR3
428.5FGFR1, 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:00160239.1FGFR1, FGFR2
2integral component of plasma membraneGO:00058878.5FGFR1, FGFR2, FGFR3

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1chondrocyte differentiationGO:00020629.8FGFR1, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
3mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
4skeletal system developmentGO:00015019.6FGFR1, FGFR3
5positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
6positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
7skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
8branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
9positive regulation of mesenchymal cell proliferationGO:00020539.6FGFR1, FGFR2
10in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
11bone mineralizationGO:00302829.5FGFR2, FGFR3
12ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
13bone morphogenesisGO:00603499.5FGFR2, FGFR3
14midbrain developmentGO:00309019.5FGFR1, FGFR2
15lung developmentGO:00303249.4FGFR1, FGFR2
16ureteric bud developmentGO:00016579.4FGFR1, FGFR2
17inner ear morphogenesisGO:00424729.3FGFR1, FGFR2
18phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
19lung-associated mesenchyme developmentGO:00604849.1FGFR1, FGFR2
20phosphatidylinositol phosphorylationGO:00468549.1FGFR1, FGFR2, FGFR3
21regulation of phosphatidylinositol 3-kinase signalingGO:00140669.1FGFR1, FGFR2, FGFR3
22phosphatidylinositol-mediated signalingGO:00480159.1FGFR1, FGFR2, FGFR3
23fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
24positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
25protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
26peptidyl-tyrosine phosphorylationGO:00181088.9FGFR1, FGFR2, FGFR3
27orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
28MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
29positive regulation of MAPK cascadeGO:00434108.9FGFR1, FGFR2, FGFR3
30positive regulation of ERK1 and ERK2 cascadeGO:00703748.8FGFR2, FGFR3
31positive regulation of GTPase activityGO:00435478.5FGFR1, FGFR2, FGFR3
32positive regulation of cell proliferationGO:00082848.5FGFR1, FGFR2, FGFR3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082019.6FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
31-phosphatidylinositol-3-kinase activityGO:00163039.1FGFR1, FGFR2, FGFR3
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGFR1, FGFR2, FGFR3
5fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2, FGFR3
6protein tyrosine kinase activityGO:00047139.0FGFR1, FGFR2, FGFR3
7Ras guanyl-nucleotide exchange factor activityGO:00050888.9FGFR1, FGFR2, FGFR3
8ATP bindingGO:00055248.5FGFR1, FGFR2, FGFR3

Sources for Osteoglophonic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet