OGD
MCID: OST044
MIFTS: 52

Osteoglophonic Dysplasia (OGD)

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

Aliases & Classifications for Osteoglophonic Dysplasia

MalaCards integrated aliases for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 57 53 25 75 37 29 13 6
Osteoglophonic Dwarfism 57 76 53 25 59 75
Ogd 57 53 25 75
Fairbank-Keats Syndrome 53 25
Osteoglosphonic Dysplasia 59
Dysplasia, Osteoglophonic 40

Characteristics:

Orphanet epidemiological data:

59
osteoglosphonic dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
osteoglophonic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteoglophonic Dysplasia

NIH Rare Diseases : 53 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.

MalaCards based summary : Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to dwarfism and hypertrophic pyloric stenosis. 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. The drugs Angiotensin II and Angiotensin I (1-7) have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and bone marrow, and related phenotypes are hypertelorism and intellectual disability

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.

UniProtKB/Swiss-Prot : 75 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 : 76 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 45)
# Related Disease Score Top Affiliating Genes
1 dwarfism 10.4
2 hypertrophic pyloric stenosis 10.1
3 pyloric stenosis 10.1
4 retinitis pigmentosa 10.1
5 horns in sheep 10.1
6 ischemia 10.1
7 synovial chondromatosis 10.0 FGFR3 FGFR1
8 osteochondroma 10.0 FGFR3 FGFR1
9 giant cell glioblastoma 10.0 FGFR3 FGFR1
10 gliosarcoma 10.0 FGFR3 FGFR1
11 bone marrow cancer 9.9 FGFR3 FGFR1
12 hemifacial hyperplasia 9.9 FGFR3 FGFR2
13 luteoma 9.9 FGFR3 FGFR2
14 beare-stevenson cutis gyrata syndrome 9.9 FGFR3 FGFR2
15 hypertropia 9.9 FGFR3 FGFR2
16 exophthalmos 9.9 FGFR3 FGFR2
17 chromosome 2q35 duplication syndrome 9.9 FGFR3 FGFR2
18 bladder urothelial carcinoma 9.9 FGFR3 FGFR1
19 acanthosis nigricans 9.9 FGFR3 FGFR2
20 autosomal dominant disease 9.9 FGFR3 FGFR2
21 fibrolamellar carcinoma 9.9 FGFR2 FGFR1
22 antley-bixler syndrome 9.9 FGFR2 FGFR1
23 strabismus 9.9 FGFR3 FGFR2
24 orofacial cleft 9.8 FGFR2 FGFR1
25 tooth agenesis 9.8 FGFR2 FGFR1
26 cleft palate, isolated 9.8 FGFR2 FGFR1
27 hydrocephalus 9.8 FGFR3 FGFR2
28 plagiocephaly 9.7 FGFR3 FGFR2 FGFR1
29 jackson-weiss syndrome 9.7 FGFR3 FGFR2 FGFR1
30 radioulnar synostosis 9.7 FGFR3 FGFR2 FGFR1
31 synostosis 9.7 FGFR3 FGFR2 FGFR1
32 thanatophoric dysplasia, type i 9.7 FGFR3 FGFR2 FGFR1
33 hypochondroplasia 9.7 FGFR3 FGFR2 FGFR1
34 apert syndrome 9.7 FGFR3 FGFR2 FGFR1
35 crouzon syndrome 9.7 FGFR3 FGFR2 FGFR1
36 bone development disease 9.7 FGFR3 FGFR2 FGFR1
37 muenke syndrome 9.7 FGFR3 FGFR2 FGFR1
38 achondroplasia 9.7 FGFR3 FGFR2 FGFR1
39 lacrimoauriculodentodigital syndrome 9.7 FGFR3 FGFR2 FGFR1
40 saethre-chotzen syndrome 9.7 FGFR3 FGFR2 FGFR1
41 pfeiffer syndrome 9.7 FGFR3 FGFR2 FGFR1
42 craniosynostosis 9.7 FGFR3 FGFR2 FGFR1
43 lung squamous cell carcinoma 9.7 FGFR3 FGFR2 FGFR1
44 adenocarcinoma 9.7 FGFR3 FGFR2 FGFR1
45 bone disease 9.7 FGFR3 FGFR2

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:

57
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

Respiratory:
respiratory distress

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 Ribs Sternum Clavicles And Scapulae:
small scapulae
progressive rib expansion

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

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:

59 32 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
5 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
6 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
7 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
8 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
9 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
10 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
11 protruding ear 59 32 frequent (33%) Frequent (79-30%) HP:0000411
12 rhizomelia 59 32 frequent (33%) Frequent (79-30%) HP:0008905
13 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
14 abnormal bone ossification 59 32 occasional (7.5%) Occasional (29-5%) HP:0011849
15 choanal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000453
16 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
17 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
18 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
19 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
20 multiple unerupted teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006283
21 malar flattening 32 HP:0000272
22 low-set ears 32 HP:0000369
23 short neck 32 HP:0000470
24 frontal bossing 32 HP:0002007
25 high palate 32 HP:0000218
26 failure to thrive 32 HP:0001508
27 mandibular prognathia 32 HP:0000303
28 depressed nasal bridge 32 HP:0005280
29 bowing of the long bones 32 HP:0006487
30 delayed speech and language development 32 HP:0000750
31 short nose 32 HP:0003196
32 long philtrum 32 HP:0000343
33 cloverleaf skull 32 HP:0002676
34 platyspondyly 32 HP:0000926
35 respiratory distress 32 HP:0002098
36 short palm 32 HP:0004279
37 short foot 32 HP:0001773
38 hypoplastic toenails 32 HP:0001800
39 hypospadias 32 HP:0000047
40 downslanted palpebral fissures 32 HP:0000494
41 midface retrusion 32 HP:0011800
42 short metacarpal 32 HP:0010049
43 broad foot 32 HP:0001769
44 broad palm 32 HP:0001169
45 hypoplastic scapulae 32 HP:0000882
46 short phalanx of finger 32 HP:0009803
47 increased susceptibility to fractures 32 HP:0002659
48 short metatarsal 32 HP:0010743
49 limb undergrowth 32 HP:0009826
50 chordee 32 HP:0000041

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

26
# 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:

46
# 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 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Osteoglophonic Dysplasia

Drugs for Osteoglophonic Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
2 Angiotensin I (1-7)
3 Vasodilator Agents
4 Antihypertensive Agents
5 Angiotensinogen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP) Not yet recruiting NCT03489993

Search NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

Genetic tests related to Osteoglophonic Dysplasia:

# Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia 29 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

41
Bone, Lung, Bone Marrow

Publications for Osteoglophonic Dysplasia

Articles related to Osteoglophonic Dysplasia:

(show all 14)
# 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
Osteoglophonic dysplasia: dental and orthodontic implications. ( 16918680 )
2006
6
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. ( 16470795 )
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
13
Osteoglophonic dwarfism in two generations. ( 6606709 )
1983
14
Osteoglophonic dwarfism. ( 7422392 )
1980

Variations for Osteoglophonic Dysplasia

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

75
# 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 (show top 50) (show all 151)
# 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.989A> T (p.Asn330Ile) single nucleotide variant Pathogenic rs121909632 GRCh38 Chromosome 8, 38421889: 38421889
3 FGFR1 NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic rs121909631 GRCh37 Chromosome 8, 38277214: 38277214
4 FGFR1 NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic rs121909631 GRCh38 Chromosome 8, 38419696: 38419696
5 FGFR1 FGFR1, CYS379ARG single nucleotide variant Pathogenic
6 FGFR1 NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg) single nucleotide variant Pathogenic rs121909634 GRCh37 Chromosome 8, 38277194: 38277194
7 FGFR1 NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg) single nucleotide variant Pathogenic rs121909634 GRCh38 Chromosome 8, 38419676: 38419676
8 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh37 Chromosome 8, 38271547: 38271547
9 FGFR1 NM_023110.2(FGFR1): c.2187-6C> T single nucleotide variant Benign/Likely benign rs4647904 GRCh38 Chromosome 8, 38414029: 38414029
10 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh37 Chromosome 8, 38271301: 38271301
11 FGFR1 NM_023110.2(FGFR1): c.2314C> T (p.Pro772Ser) single nucleotide variant Benign/Likely benign rs56234888 GRCh38 Chromosome 8, 38413783: 38413783
12 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh37 Chromosome 8, 38287238: 38287238
13 FGFR1 NM_023110.2(FGFR1): c.320C> T (p.Ser107Leu) single nucleotide variant Benign/Likely benign rs140382957 GRCh38 Chromosome 8, 38429720: 38429720
14 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh37 Chromosome 8, 38287213: 38287213
15 FGFR1 NM_023110.2(FGFR1): c.345C> T (p.Ser115=) single nucleotide variant Benign/Likely benign rs2915665 GRCh38 Chromosome 8, 38429695: 38429695
16 FGFR1 NM_023110.2(FGFR1): c.*1770G> A single nucleotide variant Likely benign rs183394116 GRCh38 Chromosome 8, 38411858: 38411858
17 FGFR1 NM_023110.2(FGFR1): c.*1770G> A single nucleotide variant Likely benign rs183394116 GRCh37 Chromosome 8, 38269376: 38269376
18 FGFR1 NM_023110.2(FGFR1): c.*1286C> T single nucleotide variant Uncertain significance rs886062909 GRCh37 Chromosome 8, 38269860: 38269860
19 FGFR1 NM_023110.2(FGFR1): c.*1286C> T single nucleotide variant Uncertain significance rs886062909 GRCh38 Chromosome 8, 38412342: 38412342
20 FGFR1 NM_023110.2(FGFR1): c.*1211G> T single nucleotide variant Likely benign rs185104092 GRCh37 Chromosome 8, 38269935: 38269935
21 FGFR1 NM_023110.2(FGFR1): c.*1211G> T single nucleotide variant Likely benign rs185104092 GRCh38 Chromosome 8, 38412417: 38412417
22 FGFR1 NM_023110.2(FGFR1): c.*723G> C single nucleotide variant Likely benign rs17182477 GRCh37 Chromosome 8, 38270423: 38270423
23 FGFR1 NM_023110.2(FGFR1): c.*723G> C single nucleotide variant Likely benign rs17182477 GRCh38 Chromosome 8, 38412905: 38412905
24 FGFR1 NM_023110.2(FGFR1): c.*70C> T single nucleotide variant Uncertain significance rs886062918 GRCh37 Chromosome 8, 38271076: 38271076
25 FGFR1 NM_023110.2(FGFR1): c.*70C> T single nucleotide variant Uncertain significance rs886062918 GRCh38 Chromosome 8, 38413558: 38413558
26 FGFR1 NM_023110.2(FGFR1): c.2293-11G> A single nucleotide variant Uncertain significance rs886062919 GRCh37 Chromosome 8, 38271333: 38271333
27 FGFR1 NM_023110.2(FGFR1): c.2293-11G> A single nucleotide variant Uncertain significance rs886062919 GRCh38 Chromosome 8, 38413815: 38413815
28 FGFR1 NM_023110.2(FGFR1): c.600C> T (p.Asp200=) single nucleotide variant Benign/Likely benign rs17175898 GRCh37 Chromosome 8, 38285460: 38285460
29 FGFR1 NM_023110.2(FGFR1): c.600C> T (p.Asp200=) single nucleotide variant Benign/Likely benign rs17175898 GRCh38 Chromosome 8, 38427942: 38427942
30 FGFR1 NM_023110.2(FGFR1): c.415A> G (p.Lys139Glu) single nucleotide variant Uncertain significance rs201054877 GRCh37 Chromosome 8, 38285897: 38285897
31 FGFR1 NM_023110.2(FGFR1): c.415A> G (p.Lys139Glu) single nucleotide variant Uncertain significance rs201054877 GRCh38 Chromosome 8, 38428379: 38428379
32 FGFR1 NM_023110.2(FGFR1): c.75G> A (p.Pro25=) single nucleotide variant Uncertain significance rs17175757 GRCh37 Chromosome 8, 38314890: 38314890
33 FGFR1 NM_023110.2(FGFR1): c.75G> A (p.Pro25=) single nucleotide variant Uncertain significance rs17175757 GRCh38 Chromosome 8, 38457372: 38457372
34 FGFR1 NM_023110.2(FGFR1): c.-636C> T single nucleotide variant Benign rs3213849 GRCh37 Chromosome 8, 38326046: 38326046
35 FGFR1 NM_023110.2(FGFR1): c.-636C> T single nucleotide variant Benign rs3213849 GRCh38 Chromosome 8, 38468528: 38468528
36 FGFR1 NM_023110.2(FGFR1): c.*2407C> T single nucleotide variant Uncertain significance rs758524862 GRCh37 Chromosome 8, 38268739: 38268739
37 FGFR1 NM_023110.2(FGFR1): c.*2407C> T single nucleotide variant Uncertain significance rs758524862 GRCh38 Chromosome 8, 38411221: 38411221
38 FGFR1 NM_023110.2(FGFR1): c.*2188T> C single nucleotide variant Likely benign rs146463691 GRCh37 Chromosome 8, 38268958: 38268958
39 FGFR1 NM_023110.2(FGFR1): c.*2188T> C single nucleotide variant Likely benign rs146463691 GRCh38 Chromosome 8, 38411440: 38411440
40 FGFR1 NM_023110.2(FGFR1): c.*2104delA deletion Likely benign rs201364530 GRCh37 Chromosome 8, 38269042: 38269042
41 FGFR1 NM_023110.2(FGFR1): c.*2104delA deletion Likely benign rs201364530 GRCh38 Chromosome 8, 38411524: 38411524
42 FGFR1 NM_023110.2(FGFR1): c.*1822A> C single nucleotide variant Likely benign rs570038633 GRCh38 Chromosome 8, 38411806: 38411806
43 FGFR1 NM_023110.2(FGFR1): c.*1822A> C single nucleotide variant Likely benign rs570038633 GRCh37 Chromosome 8, 38269324: 38269324
44 FGFR1 NM_023110.2(FGFR1): c.*1616T> G single nucleotide variant Uncertain significance rs886062908 GRCh37 Chromosome 8, 38269530: 38269530
45 FGFR1 NM_023110.2(FGFR1): c.*1616T> G single nucleotide variant Uncertain significance rs886062908 GRCh38 Chromosome 8, 38412012: 38412012
46 FGFR1 NM_023110.2(FGFR1): c.*1560C> T single nucleotide variant Uncertain significance rs761096092 GRCh37 Chromosome 8, 38269586: 38269586
47 FGFR1 NM_023110.2(FGFR1): c.*1560C> T single nucleotide variant Uncertain significance rs761096092 GRCh38 Chromosome 8, 38412068: 38412068
48 FGFR1 NM_023110.2(FGFR1): c.*1218T> C single nucleotide variant Uncertain significance rs886062910 GRCh37 Chromosome 8, 38269928: 38269928
49 FGFR1 NM_023110.2(FGFR1): c.*1218T> C single nucleotide variant Uncertain significance rs886062910 GRCh38 Chromosome 8, 38412410: 38412410
50 FGFR1 NM_023110.2(FGFR1): c.*1052C> T single nucleotide variant Likely benign rs17176088 GRCh37 Chromosome 8, 38270094: 38270094

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 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 FGFR1 FGFR2 FGFR3
2
Show member pathways
13.02 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.98 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.96 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.92 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.8 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.75 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.74 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.69 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.68 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.58 FGFR1 FGFR2 FGFR3
13
Show member pathways
12.56 FGFR1 FGFR2 FGFR3
14 12.55 FGFR1 FGFR2 FGFR3
15
Show member pathways
12.49 FGFR1 FGFR2 FGFR3
16 12.48 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.45 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.44 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
20 12.35 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.3 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.22 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.16 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.15 FGFR1 FGFR2 FGFR3
25
Show member pathways
12.12 FGFR1 FGFR2 FGFR3
26
Show member pathways
12.1 FGFR1 FGFR2 FGFR3
27
Show member pathways
12.09 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.99 FGFR1 FGFR2 FGFR3
29
Show member pathways
11.97 FGFR1 FGFR2 FGFR3
30
Show member pathways
11.92 FGFR1 FGFR2 FGFR3
31
Show member pathways
11.91 FGFR1 FGFR2 FGFR3
32 11.83 FGFR1 FGFR2 FGFR3
33
Show member pathways
11.83 FGFR1 FGFR2 FGFR3
34
Show member pathways
11.81 FGFR1 FGFR2 FGFR3
35 11.75 FGFR1 FGFR2 FGFR3
36 11.69 FGFR1 FGFR2 FGFR3
37 11.58 FGFR1 FGFR3
38 11.51 FGFR1 FGFR2 FGFR3
39 11.48 FGFR1 FGFR3
40 11.46 FGFR1 FGFR2 FGFR3
41 11.38 FGFR1 FGFR2 FGFR3
42 11.33 FGFR1 FGFR2
43 11.14 FGFR1 FGFR2 FGFR3
44 11.12 FGFR1 FGFR2 FGFR3
45 10.79 FGFR1 FGFR2 FGFR3
46 10.76 FGFR1 FGFR2 FGFR3
47 10.74 FGFR1 FGFR2 FGFR3
48 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 9.33 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 9.13 FGFR1 FGFR2 FGFR3
3 receptor complex GO:0043235 8.8 FGFR1 FGFR2 FGFR3

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.84 FGFR1 FGFR2 FGFR3
2 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
3 protein phosphorylation GO:0006468 9.82 FGFR1 FGFR2 FGFR3
4 negative regulation of apoptotic process GO:0043066 9.81 FGFR1 FGFR2 FGFR3
5 positive regulation of cell proliferation GO:0008284 9.81 FGFR1 FGFR2 FGFR3
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.75 FGFR1 FGFR2 FGFR3
7 MAPK cascade GO:0000165 9.74 FGFR1 FGFR2 FGFR3
8 peptidyl-tyrosine phosphorylation GO:0018108 9.71 FGFR1 FGFR2 FGFR3
9 protein autophosphorylation GO:0046777 9.69 FGFR1 FGFR2 FGFR3
10 in utero embryonic development GO:0001701 9.67 FGFR1 FGFR2
11 skeletal system development GO:0001501 9.67 FGFR1 FGFR3
12 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR1 FGFR2 FGFR3
13 lung development GO:0030324 9.66 FGFR1 FGFR2
14 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
15 positive regulation of cell cycle GO:0045787 9.64 FGFR1 FGFR2
16 skeletal system morphogenesis GO:0048705 9.63 FGFR1 FGFR2
17 positive regulation of MAPK cascade GO:0043410 9.63 FGFR1 FGFR2 FGFR3
18 ureteric bud development GO:0001657 9.62 FGFR1 FGFR2
19 bone mineralization GO:0030282 9.62 FGFR2 FGFR3
20 chondrocyte differentiation GO:0002062 9.61 FGFR1 FGFR3
21 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 FGFR1 FGFR2
22 negative regulation of signal transduction GO:0009968 9.61 FGFR1 FGFR2 FGFR3
23 midbrain development GO:0030901 9.6 FGFR1 FGFR2
24 bone morphogenesis GO:0060349 9.59 FGFR2 FGFR3
25 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR1 FGFR2
26 phosphatidylinositol phosphorylation GO:0046854 9.58 FGFR1 FGFR2 FGFR3
27 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
28 mesenchymal cell differentiation GO:0048762 9.55 FGFR1 FGFR2
29 lung-associated mesenchyme development GO:0060484 9.52 FGFR1 FGFR2
30 endochondral bone growth GO:0003416 9.48 FGFR2 FGFR3
31 fibroblast growth factor receptor signaling pathway GO:0008543 9.43 FGFR1 FGFR2 FGFR3
32 orbitofrontal cortex development GO:0021769 9.37 FGFR1 FGFR2
33 ventricular zone neuroblast division GO:0021847 9.32 FGFR1 FGFR2
34 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
35 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
36 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 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.7 FGFR1 FGFR2 FGFR3
2 kinase activity GO:0016301 9.67 FGFR1 FGFR2 FGFR3
3 protein kinase activity GO:0004672 9.65 FGFR1 FGFR2 FGFR3
4 nucleotide binding GO:0000166 9.63 FGFR1 FGFR2 FGFR3
5 transmembrane signaling receptor activity GO:0004888 9.61 FGFR1 FGFR2 FGFR3
6 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
7 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
8 heparin binding GO:0008201 9.51 FGFR1 FGFR2
9 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
11 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
13 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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