MCID: OST044
MIFTS: 47

Osteoglophonic Dysplasia malady

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

Aliases & Classifications for Osteoglophonic Dysplasia

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 51 47 24 25 69 26 12
Osteoglophonic Dwarfism 47 24 25 53 69
 
Ogd 47 25 69
Fairbank-Keats Syndrome 47 25

Characteristics:

Orphanet epidemiological data:

53
osteoglophonic dwarfism:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile

HPO:

63
osteoglophonic dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 166250
Orphanet53 ORPHA2645
MESH via Orphanet39 C536050
UMLS via Orphanet68 C0432283
ICD10 via Orphanet30 Q87.1
MedGen36 C0432283

Summaries for Osteoglophonic Dysplasia

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Genetics Home Reference:25 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 osteopetrosis and infantile neuroaxonal dystrophy and syphilitic myelopathy, 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:69 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:51 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 36)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis and infantile neuroaxonal dystrophy10.0FGFR1, FGFR3
2syphilitic myelopathy9.9FGFR1, FGFR3
3hypertrophic pyloric stenosis9.9
4pyloric stenosis9.9
5grade iii astrocytoma9.9FGFR1, FGFR3
6neuronitis9.9
7adult astrocytic tumour9.8FGFR1, FGFR3
8mite infestation9.8FGFR2, FGFR3
9apert syndrome9.8FGFR2, FGFR3
10accommodative esotropia9.8FGFR2, FGFR3
11crouzon syndrome with acanthosis nigricans9.8FGFR2, FGFR3
12glaucomatocyclitic crisis9.7FGFR2, FGFR3
13pfn1-related amyotrophic lateral sclerosis9.7FGFR1, FGFR2
14scleredema adultorum9.7FGFR2, FGFR3
15uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.7FGFR1, FGFR2
16serous conjunctivitis except viral9.6FGFR2, FGFR3
17myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.6FGFR1, FGFR2
18y-linked disease9.5FGFR2, FGFR3
19mixed germ cell-sex cord neoplasm9.5FGFR2, FGFR3
20glycogen storage disease ix9.4FGFR1, FGFR2
21flnb-related disorders9.4FGFR1, FGFR2, FGFR3
22plasmalogens synthesis deficiency isolated9.4FGFR1, FGFR2, FGFR3
23trigonocephaly 19.4FGFR1, FGFR2, FGFR3
24bladder cancer, somatic9.3FGFR1, FGFR2, FGFR3
25hypogonadotropic hypogonadism 2 with or without anosmia9.3FGFR1, FGFR2, FGFR3
26central nervous system leukemia9.3FGFR1, FGFR2, FGFR3
27thanatophoric dysplasia, type i9.3FGFR1, FGFR2, FGFR3
28antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.3FGFR1, FGFR2, FGFR3
29beare-stevenson cutis gyrata syndrome9.3FGFR1, FGFR2, FGFR3
30thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
31ischemic bone disease9.3FGFR1, FGFR2, FGFR3
32hypochondroplasia9.3FGFR1, FGFR2, FGFR3
33craniosynostosis, type 19.3FGFR1, FGFR2, FGFR3
34jackson-weiss syndrome9.3FGFR1, FGFR2, FGFR3
35crohn's disease9.3FGFR1, FGFR2, FGFR3
36cervical cancer, somatic9.3FGFR2, 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

Human phenotypes related to Osteoglophonic Dysplasia:

 63 53 (show all 63)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
2 craniosynostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0001363
3 abnormal form of the vertebral bodies63 53 hallmark (90%) Very frequent (99-80%) HP:0003312
4 short stature63 hallmark (90%) HP:0004322
5 reduced number of teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0009804
6 micrognathia63 53 typical (50%) Frequent (79-30%) HP:0000347
7 abnormality of the pinna63 typical (50%) HP:0000377
8 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
9 abnormality of the clavicle63 53 typical (50%) Frequent (79-30%) HP:0000889
10 delayed skeletal maturation63 53 typical (50%) Frequent (79-30%) HP:0002750
11 limb undergrowth63 typical (50%) HP:0009826
12 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
13 choanal atresia63 53 occasional (7.5%) Occasional (29-5%) HP:0000453
14 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
15 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
16 hernia of the abdominal wall63 occasional (7.5%) HP:0004299
17 abnormality of bone mineral density63 occasional (7.5%) HP:0004348
18 cognitive impairment63 occasional (7.5%) HP:0100543
19 inguinal hernia63 53 Occasional (29-5%) HP:0000023
20 chordee63 HP:0000041
21 hypospadias63 HP:0000047
22 high palate63 HP:0000218
23 malar flattening63 HP:0000272
24 mandibular prognathia63 HP:0000303
25 long philtrum63 HP:0000343
26 low-set ears63 HP:0000369
27 short neck63 HP:0000470
28 downslanted palpebral fissures63 HP:0000494
29 shallow orbits63 HP:0000586
30 unerupted tooth63 HP:0000706
31 delayed speech and language development63 HP:0000750
32 hypoplastic scapulae63 HP:0000882
33 platyspondyly63 HP:0000926
34 broad palm63 HP:0001169
35 broad metacarpals63 HP:0001230
36 failure to thrive63 HP:0001508
37 abnormality of the nasopharynx63 HP:0001739
38 nasal obstruction63 HP:0001742
39 broad foot63 HP:0001769
40 short foot63 HP:0001773
41 broad metatarsal63 HP:0001783
42 hypoplastic toenails63 HP:0001800
43 frontal bossing63 HP:0002007
44 respiratory distress63 HP:0002098
45 increased susceptibility to fractures63 HP:0002659
46 cloverleaf skull63 HP:0002676
47 short nose63 HP:0003196
48 short palm63 HP:0004279
49 depressed nasal bridge63 HP:0005280
50 pseudoarthrosis63 HP:0005864
51 broad phalanx63 HP:0006009
52 bowing of the long bones63 HP:0006487
53 rhizomelia63 53 Frequent (79-30%) HP:0008905
54 short phalanx of finger63 HP:0009803
55 short metacarpal63 HP:0010049
56 short metatarsal63 HP:0010743
57 midface retrusion63 HP:0011800
58 protruding ear53 Frequent (79-30%)
59 intellectual disability53 Occasional (29-5%)
60 failure to thrive in infancy53 Frequent (79-30%)
61 severe short stature53 Very frequent (99-80%)
62 multiple unerupted teeth53 Very frequent (99-80%)
63 abnormal bone ossification53 Occasional (29-5%)

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 Dysplasia26 24 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

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MalaCards organs/tissues related to Osteoglophonic Dysplasia:

35
Bone

Animal Models for Osteoglophonic Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3FGFR1, FGFR2, FGFR3
2MP:00053819.3FGFR1, FGFR2, FGFR3
3MP:00053779.3FGFR1, FGFR2, FGFR3
4MP:00053719.3FGFR1, FGFR2, FGFR3
5MP:00030129.3FGFR1, FGFR2, FGFR3
6MP:00053679.2FGFR1, FGFR2, FGFR3
7MP:00053918.5FGFR1, 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:

69
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)SNVPathogenicrs121909632GRCh37Chr 8, 38279407: 38279407
2FGFR1NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys)SNVPathogenicrs121909631GRCh37Chr 8, 38277214: 38277214
3FGFR1FGFR1, CYS379ARGSNVPathogenicChr na, -1: -1
4FGFR1NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg)SNVPathogenicrs121909634GRCh37Chr 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 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
198.5FGFR1, FGFR2, FGFR3
208.5FGFR1, 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
268.5FGFR1, FGFR2, FGFR3
27
Show member pathways
8.5FGFR1, FGFR2, FGFR3
28
Show member pathways
8.5FGFR1, FGFR2, FGFR3
29
Show member pathways
8.5FGFR1, 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
348.5FGFR1, 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
1integral 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:00020629.9FGFR1, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.8FGFR1, FGFR2
3skeletal system developmentGO:00015019.7FGFR1, FGFR3
4mesenchymal cell differentiationGO:00487629.7FGFR1, FGFR2
5bone mineralizationGO:00302829.6FGFR2, FGFR3
6positive regulation of cardiac muscle cell proliferationGO:00600459.6FGFR1, FGFR2
7positive regulation of cell cycleGO:00457879.6FGFR1, FGFR2
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9bone morphogenesisGO:00603499.5FGFR2, FGFR3
10branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
11positive regulation of mesenchymal cell proliferationGO:00020539.5FGFR1, FGFR2
12in utero embryonic developmentGO:00017019.5FGFR1, FGFR2
13ventricular zone neuroblast divisionGO:00218479.5FGFR1, FGFR2
14ureteric bud developmentGO:00016579.5FGFR1, FGFR2
15lung developmentGO:00303249.4FGFR1, FGFR2
16inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
17midbrain developmentGO:00309019.4FGFR1, FGFR2
18lung-associated mesenchyme developmentGO:00604849.2FGFR1, FGFR2
19phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
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:00085439.1FGFR1, FGFR2, FGFR3
24positive regulation of phospholipase activityGO:00105189.0FGFR1, FGFR2, FGFR3
25peptidyl-tyrosine phosphorylationGO:00181089.0FGFR1, FGFR2, FGFR3
26protein autophosphorylationGO:00467779.0FGFR1, FGFR2, FGFR3
27orbitofrontal cortex developmentGO:00217698.9FGFR1, FGFR2
28positive regulation of MAPK cascadeGO:00434108.9FGFR1, FGFR2, FGFR3
29positive regulation of ERK1 and ERK2 cascadeGO:00703748.8FGFR2, FGFR3
30MAPK cascadeGO:00001658.7FGFR1, FGFR2, FGFR3
31positive regulation of GTPase activityGO:00435478.6FGFR1, 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:00050888.8FGFR1, FGFR2, FGFR3
8ATP bindingGO:00055248.5FGFR1, FGFR2, FGFR3

Sources for Osteoglophonic Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet