MCID: OST044
MIFTS: 50

Osteoglophonic Dysplasia

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

Aliases & Classifications for Osteoglophonic Dysplasia

MalaCards integrated aliases for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 53 49 24 71 36 28 13
Osteoglophonic Dwarfism 53 72 49 24 55 71
Ogd 53 49 24 71
Fairbank-Keats Syndrome 49 24
Osteoglosphonic Dysplasia 55

Characteristics:

Orphanet epidemiological data:

55
osteoglosphonic dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
osteoglophonic, derived from greek meaning "hollowed out"


HPO:

31
osteoglophonic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteoglophonic Dysplasia

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2645Disease definitionOsteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.EpidemiologyLess than ten cases have been reported so far.Clinical descriptionMain clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. The main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence is usually normal.EtiologyOGD is caused by mutations in the FGFR1 gene (8p11.2-p11.1).Genetic counselingOGD is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources. Last updated: 9/30/2009

MalaCards based summary : Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to hypertrophic pyloric stenosis and pyloric stenosis, and has symptoms including hypertelorism, intellectual disability and scoliosis. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

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.

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Dwarfism, also known as short stature, occurs when an organism is extremely small. In humans, it is... more...

Description from OMIM: 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hypertrophic pyloric stenosis 10.0
2 pyloric stenosis 10.0
3 synovial chondromatosis 10.0 FGFR1 FGFR3
4 osteochondroma 9.9 FGFR1 FGFR3
5 neuronitis 9.9
6 ring chromosome y syndrome 9.9
7 giant cell glioblastoma 9.9 FGFR1 FGFR3
8 gliosarcoma 9.9 FGFR1 FGFR3
9 luteoma 9.8 FGFR2 FGFR3
10 beare-stevenson cutis gyrata syndrome 9.8 FGFR2 FGFR3
11 thanatophoric dysplasia, type i 9.8 FGFR2 FGFR3
12 hypertropia 9.8 FGFR2 FGFR3
13 acanthosis nigricans 9.8 FGFR2 FGFR3
14 chromosome 2q35 duplication syndrome 9.8 FGFR2 FGFR3
15 radioulnar synostosis 9.8 FGFR1 FGFR2
16 porokeratosis 9.7 FGFR2 FGFR3
17 antley-bixler syndrome 9.7 FGFR1 FGFR2
18 autosomal dominant disease 9.7 FGFR2 FGFR3
19 strabismus 9.7 FGFR2 FGFR3
20 dysostosis 9.6 FGFR2 FGFR3
21 cleft palate, isolated 9.6 FGFR1 FGFR2
22 orofacial cleft 9.5 FGFR1 FGFR2
23 tooth agenesis 9.4 FGFR1 FGFR2
24 plagiocephaly 9.4 FGFR1 FGFR2 FGFR3
25 jackson-weiss syndrome 9.4 FGFR1 FGFR2 FGFR3
26 hypochondroplasia 9.4 FGFR1 FGFR2 FGFR3
27 apert syndrome 9.4 FGFR1 FGFR2 FGFR3
28 crouzon syndrome 9.4 FGFR1 FGFR2 FGFR3
29 lacrimoauriculodentodigital syndrome 9.4 FGFR1 FGFR2 FGFR3
30 achondroplasia 9.4 FGFR1 FGFR2 FGFR3
31 muenke syndrome 9.4 FGFR1 FGFR2 FGFR3
32 bone development disease 9.4 FGFR1 FGFR2 FGFR3
33 saethre-chotzen syndrome 9.4 FGFR1 FGFR2 FGFR3
34 pfeiffer syndrome 9.4 FGFR1 FGFR2 FGFR3
35 synostosis 9.4 FGFR1 FGFR2 FGFR3
36 lung squamous cell carcinoma 9.4 FGFR1 FGFR2 FGFR3
37 craniosynostosis 9.4 FGFR1 FGFR2 FGFR3
38 hydrocephalus 9.4 FGFR2 FGFR3

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



Diseases related to Osteoglophonic Dysplasia

Symptoms & Phenotypes for Osteoglophonic Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory distress

Head And Neck Ears:
low-set ears

Head And Neck Face:
frontal bossing
long philtrum
midface hypoplasia
prognathism

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias
chordee

Skeletal Spine:
platyspondyly

Skin Nails Hair Nails:
hypoplastic toenails

Respiratory Nasopharynx:
nasal obstruction

Skeletal Hands:
short, broad hands
short, broad metacarpals
short, broad phalanges

Skeletal Feet:
short, broad feet
short, broad metatarsals

Growth Height:
rhizomelic dwarfism

Chest RibsSternum Clavicles And Scapulae:
small scapulae
progressive rib expansion

Head And Neck Eyes:
hypertelorism
proptosis
downslanting palpebral fissures

Head And Neck Neck:
short neck

Growth Other:
failure to thrive

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Skull:
craniosynostosis
shallow orbits
kleeblattschaedel deformity

Head And Neck Mouth:
high-arched palate

Skeletal Limbs:
fractures
short, bowed limbs
irregular areas of radiolucency in metaphyses
pseudoarthroses

Neurologic Central Nervous System:
speech delay

Head And Neck Teeth:
unerupted teeth

Skin Nails Hair Skin:
pretibial dimples


Clinical features from OMIM:

166250

Human phenotypes related to Osteoglophonic Dysplasia:

55 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
3 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
4 inguinal hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000023
5 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
6 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
7 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
8 abnormal form of the vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003312
9 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
10 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0001531
11 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
12 rhizomelia 55 31 frequent (33%) Frequent (79-30%) HP:0008905
13 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
14 abnormal bone ossification 55 31 occasional (7.5%) Occasional (29-5%) HP:0011849
15 choanal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000453
16 reduced number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0009804
17 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
18 craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001363
19 abnormality of the clavicle 55 31 frequent (33%) Frequent (79-30%) HP:0000889
20 multiple unerupted teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0006283
21 respiratory distress 31 HP:0002098
22 malar flattening 31 HP:0000272
23 low-set ears 31 HP:0000369
24 short neck 31 HP:0000470
25 frontal bossing 31 HP:0002007
26 high palate 31 HP:0000218
27 failure to thrive 31 HP:0001508
28 mandibular prognathia 31 HP:0000303
29 depressed nasal bridge 31 HP:0005280
30 bowing of the long bones 31 HP:0006487
31 delayed speech and language development 31 HP:0000750
32 short nose 31 HP:0003196
33 long philtrum 31 HP:0000343
34 cloverleaf skull 31 HP:0002676
35 platyspondyly 31 HP:0000926
36 short palm 31 HP:0004279
37 short foot 31 HP:0001773
38 hypoplastic toenails 31 HP:0001800
39 hypospadias 31 HP:0000047
40 downslanted palpebral fissures 31 HP:0000494
41 midface retrusion 31 HP:0011800
42 short metacarpal 31 HP:0010049
43 broad foot 31 HP:0001769
44 broad palm 31 HP:0001169
45 hypoplastic scapulae 31 HP:0000882
46 short phalanx of finger 31 HP:0009803
47 increased susceptibility to fractures 31 HP:0002659
48 short metatarsal 31 HP:0010743
49 limb undergrowth 31 HP:0009826
50 chordee 31 HP:0000041

GenomeRNAi Phenotypes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.16 FGFR1 FGFR2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
3 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
4 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.5 FGFR1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.43 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.33 FGFR1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.13 FGFR1 FGFR2 FGFR3
6 renal/urinary system MP:0005367 8.8 FGFR3 FGFR1 FGFR2

Drugs & Therapeutics for Osteoglophonic Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

Genetic tests related to Osteoglophonic Dysplasia:

# Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia 28 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

38
Bone

Publications for Osteoglophonic Dysplasia

Articles related to Osteoglophonic Dysplasia:

(show all 12)
# Title Authors Year
1
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues. ( 29147600 )
2017
2
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. ( 27599310 )
2016
3
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. ( 20236123 )
2010
4
Osteoglophonic dysplasia: a case report. ( 20339250 )
2010
5
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. ( 16470795 )
2006
6
Osteoglophonic dysplasia: dental and orthodontic implications. ( 16918680 )
2006
7
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. ( 15625620 )
2005
8
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. ( 8995175 )
1997
9
Osteoglophonic dysplasia: review and further delineation of the syndrome. ( 8958322 )
1996
10
Osteoglophonic dysplasia. ( 2325100 )
1990
11
Osteoglophonic dysplasia. ( 2810341 )
1989
12
Osteoglophonic dysplasia: a new case. ( 3409933 )
1988

Variations for Osteoglophonic Dysplasia

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

71
# Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn330Ile VAR_030987 rs121909632
2 FGFR1 p.Tyr374Cys VAR_030993 rs121909631
3 FGFR1 p.Cys381Arg VAR_030994 rs121909634

ClinVar genetic disease variations for Osteoglophonic Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile) single nucleotide variant Pathogenic rs121909632 GRCh37 Chromosome 8, 38279407: 38279407
2 FGFR1 NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic rs121909631 GRCh37 Chromosome 8, 38277214: 38277214
3 FGFR1 FGFR1, CYS379ARG single nucleotide variant Pathogenic
4 FGFR1 NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg) single nucleotide variant Pathogenic rs121909634 GRCh37 Chromosome 8, 38277194: 38277194

Expression for Osteoglophonic Dysplasia

Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for Osteoglophonic Dysplasia

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

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 FGFR1 FGFR2 FGFR3
2
Show member pathways
13 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.97 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.91 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.89 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.77 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.73 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.71 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.66 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.64 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.55 FGFR1 FGFR2 FGFR3
14 12.52 FGFR1 FGFR2 FGFR3
15 12.45 FGFR1 FGFR2 FGFR3
16
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.41 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
19 12.32 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.2 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.14 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.07 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.93 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.88 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.81 FGFR1 FGFR2 FGFR3
30 11.74 FGFR1 FGFR2 FGFR3
31 11.69 FGFR1 FGFR2 FGFR3
32 11.56 FGFR1 FGFR3
33 11.51 FGFR1 FGFR2 FGFR3
34 11.46 FGFR1 FGFR3
35 11.38 FGFR1 FGFR2 FGFR3
36 11.29 FGFR1 FGFR2
37 11.14 FGFR1 FGFR2 FGFR3
38 11.09 FGFR1 FGFR2 FGFR3
39 10.79 FGFR1 FGFR2 FGFR3
40 10.71 FGFR1 FGFR2 FGFR3
41 10.42 FGFR1 FGFR2 FGFR3

GO Terms for Osteoglophonic Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.13 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 8.8 FGFR1 FGFR2 FGFR3

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.82 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.81 FGFR1 FGFR2 FGFR3
3 positive regulation of cell proliferation GO:0008284 9.8 FGFR1 FGFR2 FGFR3
4 MAPK cascade GO:0000165 9.73 FGFR1 FGFR2 FGFR3
5 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
6 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR1 FGFR2 FGFR3
7 in utero embryonic development GO:0001701 9.66 FGFR1 FGFR2
8 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.65 FGFR2 FGFR3
9 skeletal system development GO:0001501 9.65 FGFR1 FGFR3
10 lung development GO:0030324 9.65 FGFR1 FGFR2
11 positive regulation of protein kinase B signaling GO:0051897 9.65 FGFR1 FGFR2 FGFR3
12 inner ear morphogenesis GO:0042472 9.64 FGFR1 FGFR2
13 ureteric bud development GO:0001657 9.62 FGFR1 FGFR2
14 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
15 chondrocyte differentiation GO:0002062 9.61 FGFR1 FGFR3
16 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
17 midbrain development GO:0030901 9.6 FGFR1 FGFR2
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.59 FGFR1 FGFR2
19 bone mineralization GO:0030282 9.58 FGFR2 FGFR3
20 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
21 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR1 FGFR2 FGFR3
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.57 FGFR1 FGFR2
23 branching involved in salivary gland morphogenesis GO:0060445 9.55 FGFR1 FGFR2
24 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
25 positive regulation of MAPK cascade GO:0043410 9.54 FGFR1 FGFR2 FGFR3
26 lung-associated mesenchyme development GO:0060484 9.49 FGFR1 FGFR2
27 endochondral bone growth GO:0003416 9.46 FGFR2 FGFR3
28 orbitofrontal cortex development GO:0021769 9.43 FGFR1 FGFR2
29 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR1 FGFR2 FGFR3
30 ventricular zone neuroblast division GO:0021847 9.32 FGFR1 FGFR2
31 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
32 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
33 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.69 FGFR1 FGFR2 FGFR3
2 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
3 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
5 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
7 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
8 heparin binding GO:0008201 9.49 FGFR1 FGFR2
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
10 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Osteoglophonic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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