MNKS
MCID: MNK003
MIFTS: 60

Muenke Syndrome (MNKS) malady

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

Aliases & Classifications for Muenke Syndrome

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 54 12 71 23 50 24 25 56 66 29 13 52 42 14 69
Fgfr3-Related Craniosynostosis 12 24 66
Muenke Nonsyndromic Coronal Craniosynostosis 50 25
Syndrome of Coronal Craniosynostosis 50 29
Fgfr3-Associated Coronal Synostosis 25 66
Muenke Non-Syndromic Coronal Craniosynostosis 66
Fgfr3-Related Isolated Coronal Synostosis 66
Craniosynostosis, Adelaide Type 69
Adelaide-Type Craniosynostosis 24
Mnks 66

Characteristics:

Orphanet epidemiological data:

56
muenke syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

GeneReviews:

23
muenke syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is reduced. in a familial study of seven affected individuals, six of eight individuals had coronal synostosis and two of eight were phenotypically normal [moko & blandin de chalain 2001], yielding a penetrance of approximately 75% for that family...

Classifications:



External Ids:

OMIM 54 602849
Disease Ontology 12 DOID:0060703
ICD10 33 Q87.0
Orphanet 56 ORPHA53271
MESH via Orphanet 43 C537369
UMLS via Orphanet 70 C1864436
ICD10 via Orphanet 34 Q87.0
MedGen 40 C1864436
UMLS 69 C1864436

Summaries for Muenke Syndrome

UniProtKB/Swiss-Prot : 66 Muenke syndrome: A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero- posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency.

MalaCards based summary : Muenke Syndrome, also known as fgfr3-related craniosynostosis, is related to fgfr3-related isolated coronal synostosis and menkes disease, and has symptoms including macrocephaly, malar flattening and hypertelorism. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Affiliated tissues include bone, skin and testes, and related phenotypes are Decreased viability and cellular

Disease Ontology : 12 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has material basis in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.

Genetics Home Reference : 25 Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

NIH Rare Diseases : 50 muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. this affects the shape of the head and face. other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. muenke syndrome is caused by mutations in the fgfr3 gene. it is inherited in an autosomal dominant pattern.   last updated: 10/3/2011

OMIM : 54 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia : 71 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

GeneReviews: NBK1415

Related Diseases for Muenke Syndrome

Diseases related to Muenke Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
id Related Disease Score Top Affiliating Genes
1 fgfr3-related isolated coronal synostosis 12.3
2 menkes disease 11.9
3 craniosynostosis, adelaide type 11.1
4 nasodigitoacoustic syndrome 10.9
5 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.3 FGFR1 FGFR2
6 pitx3-related anterior segment mesenchymal dysgenesis 10.3 FGFR1 FGFR2
7 familial porphyria cutanea tarda 10.2 FGFR1 FGFR2 FGFR3
8 hartsfield syndrome 10.2 FGFR1 FGFR2 FGFR3
9 osteoglophonic dysplasia 10.2 FGFR1 FGFR2 FGFR3
10 idiopathic recurrent and disabling cutaneous herpes 10.2 FGFR3 TWIST1
11 crouzon syndrome with acanthosis nigricans 10.2 FGFR1 FGFR2 FGFR3
12 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.2 FGFR2 FGFR3 RAB23
13 thanatophoric dysplasia, type i 10.2 FGFR1 FGFR2 FGFR3
14 isolated scaphocephaly 10.2 FGFR3 TWIST1
15 candidiasis, familial, 3 10.2 FGF8 FGFR3
16 pointer syndrome 10.2 FGFR1 FGFR2 FGFR3 TWIST1
17 robinow-sorauf syndrome 10.2 FGFR1 FGFR2 FGFR3 TWIST1
18 craniosynostosis 10.1
19 partial of retinal vein occlusion 10.1 FGF10 FGF7 FGFR2
20 aica-ribosiduria due to atic deficiency 10.0 AKT3 FGFR2 FGFR3 IHH
21 joubert syndrome-3 10.0 FGF13 FGF2
22 bone structure disease 10.0 AKT3 FGFR1 FGFR2 FGFR3 TWIST1
23 t cell immunodeficiency primary 10.0 FGF2 FGF9 FGFR1 FGFR3
24 atrophy of testis 10.0 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
25 occipital horn syndrome 9.9
26 benign essential hypertension 9.9 FGF10 FGF8 FGFR2
27 apert syndrome 9.9 FGF13 FGF2 FGFR1 FGFR2 FGFR3
28 autosomal genetic disease 9.8 FGFR2 FGFR3 PTCH1
29 ovarian epithelial cancer 9.8 EXT1 FGF2 FGF9 FGFR1 FGFR3
30 prostatitis 9.8
31 prostate cancer 9.8
32 osteochondroma 9.8
33 hypogonadotropic hypogonadism 2 with or without anosmia 9.7 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
34 leukemia 9.7
35 lymphoma 9.7
36 cutaneous t cell lymphoma 9.7
37 myeloproliferative neoplasm 9.7
38 neuronitis 9.7
39 breast cancer 9.7
40 myeloid leukemia 9.7
41 hydrocephalus 9.7
42 synostosis 9.7
43 epilepsy 9.7
44 hypochondroplasia 9.7
45 intracranial hypertension 9.7
46 hemimegalencephaly 9.7
47 saddan 9.6 ARID1B FGF10 FGF7 FGF8 FGF9 FGFR1
48 cutaneous leishmaniasis 9.5 EFNB1 FGF10 FGF2 FGF8 FGFR1 FGFR2
49 scaphocephaly, maxillary retrusion, and mental retardation 9.4 FGF10 FGF2 FGF7 FGF9 FGFR1 FGFR2
50 cervical cancer, somatic 7.9 AKT3 ARID1B EFNB1 EXT1 FGF1 FGF10

Graphical network of the top 20 diseases related to Muenke Syndrome:



Diseases related to Muenke Syndrome

Symptoms & Phenotypes for Muenke Syndrome

Symptoms by clinical synopsis from OMIM:

602849

Clinical features from OMIM:

602849

Human phenotypes related to Muenke Syndrome:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 56 32 Occasional (29-5%) HP:0000256
2 malar flattening 56 32 Frequent (79-30%) HP:0000272
3 hypertelorism 56 32 Frequent (79-30%) HP:0000316
4 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 global developmental delay 56 32 Occasional (29-5%) HP:0001263
7 increased intracranial pressure 56 32 Frequent (79-30%) HP:0002516
8 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
9 brachycephaly 56 32 Frequent (79-30%) HP:0000248
10 short palm 56 32 Frequent (79-30%) HP:0004279
11 cone-shaped epiphysis 56 32 Frequent (79-30%) HP:0010579
12 short foot 56 32 Frequent (79-30%) HP:0001773
13 high, narrow palate 56 32 Frequent (79-30%) HP:0002705
14 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
15 hypopigmentation of hair 56 32 Occasional (29-5%) HP:0005599
16 coronal craniosynostosis 56 32 Frequent (79-30%) HP:0004440
17 proptosis 56 32 Frequent (79-30%) HP:0000520
18 hypermelanotic macule 56 32 Occasional (29-5%) HP:0001034
19 plagiocephaly 56 32 Frequent (79-30%) HP:0001357
20 tarsal synostosis 56 32 Frequent (79-30%) HP:0008368
21 carpal synostosis 56 32 Frequent (79-30%) HP:0009702
22 clinodactyly 32 HP:0030084
23 high palate 32 HP:0000218
24 intellectual disability 32 HP:0001249
25 downslanted palpebral fissures 32 HP:0000494
26 brachydactyly syndrome 32 HP:0001156
27 low anterior hairline 32 HP:0000294
28 midface retrusion 32 HP:0011800
29 capitate-hamate fusion 32 HP:0001241
30 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
31 radial deviation of finger 32 HP:0009466
32 short middle phalanx of finger 32 HP:0005819
33 broad hallux 32 HP:0010055
34 short middle phalanx of toe 32 HP:0003795
35 thimble-shaped middle phalanges of hand 32 HP:0006193

GenomeRNAi Phenotypes related to Muenke Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.83 MARK3
2 Decreased viability GR00221-A-1 9.83 FGFR3 IHH MARK3 AKT3 FGFR1
3 Decreased viability GR00221-A-2 9.83 FGFR3 IHH MARK3 AKT3 FGFR1
4 Decreased viability GR00221-A-3 9.83 FGFR3 AKT3
5 Decreased viability GR00221-A-4 9.83 MARK3 AKT3
6 Decreased viability GR00301-A 9.83 AKT3

MGI Mouse Phenotypes related to Muenke Syndrome:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 AKT3 EFNB1 EXT1 FGF10 FGF13 FGF2
2 behavior/neurological MP:0005386 10.44 AKT3 EXT1 FGF10 FGF13 FGF2 FGF7
3 growth/size/body region MP:0005378 10.42 AKT3 EFNB1 EXT1 FGF10 FGF7 FGF8
4 mortality/aging MP:0010768 10.4 AKT3 EFNB1 EXT1 FGF10 FGF13 FGF2
5 homeostasis/metabolism MP:0005376 10.36 MARK3 PTCH1 AKT3 EFNB1 FGF1 FGF10
6 craniofacial MP:0005382 10.35 EXT1 FGF10 FGF8 FGF9 FGFR1 FGFR2
7 digestive/alimentary MP:0005381 10.34 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
8 hematopoietic system MP:0005397 10.34 AKT3 ARID1B EFNB1 FGF1 FGF10 FGF2
9 nervous system MP:0003631 10.34 FGFR2 FGFR3 IHH PTCH1 RAB23 TWIST1
10 cardiovascular system MP:0005385 10.32 TWIST1 AKT3 FGF10 FGF2 FGF8 FGF9
11 embryo MP:0005380 10.29 EFNB1 EXT1 FGF10 FGF8 FGFR1 FGFR2
12 limbs/digits/tail MP:0005371 10.29 FGFR3 IHH PTCH1 RAB23 TWIST1 EFNB1
13 endocrine/exocrine gland MP:0005379 10.24 AKT3 EFNB1 FGF10 FGF8 FGF9 FGFR1
14 immune system MP:0005387 10.24 AKT3 ARID1B EFNB1 FGF10 FGF7 FGF8
15 hearing/vestibular/ear MP:0005377 10.22 FGFR2 FGFR3 EFNB1 EXT1 FGF10 FGF2
16 integument MP:0010771 10.22 EFNB1 EXT1 FGF10 FGF7 FGF9 FGFR1
17 muscle MP:0005369 10.13 FGF10 FGF2 FGF8 FGF9 FGFR1 FGFR2
18 normal MP:0002873 10.07 FGF8 FGF9 FGFR1 FGFR2 FGFR3 PTCH1
19 no phenotypic analysis MP:0003012 10.01 MARK3 PTCH1 EFNB1 EXT1 FGFR1 FGFR2
20 reproductive system MP:0005389 10 PTCH1 AKT3 EFNB1 FGF10 FGF2 FGF7
21 neoplasm MP:0002006 9.93 FGF2 FGFR2 FGFR3 PTCH1 AKT3 EXT1
22 renal/urinary system MP:0005367 9.87 FGF10 FGF7 FGF8 FGFR1 FGFR2 FGFR3
23 skeleton MP:0005390 9.8 EFNB1 EXT1 FGF10 FGF2 FGF7 FGF8
24 respiratory system MP:0005388 9.76 EFNB1 FGF10 FGF8 FGF9 FGFR2 FGFR3
25 vision/eye MP:0005391 9.44 EFNB1 EXT1 FGF10 FGF2 FGF7 FGF8

Drugs & Therapeutics for Muenke Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977
2 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010

Search NIH Clinical Center for Muenke Syndrome

Cochrane evidence based reviews: muenke syndrome

Genetic Tests for Muenke Syndrome

Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome 29 24 FGFR3
2 Coronal Craniosynostosis 29
3 Fgfr3-Related Craniosynostosis 24 FGFR3

Anatomical Context for Muenke Syndrome

MalaCards organs/tissues related to Muenke Syndrome:

39
Bone, Skin, Testes, Temporal Lobe

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show all 33)
id Title Authors Year
1
Erratum to: A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults who Have Muenke Syndrome and their Partners. ( 28432536 )
2017
2
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. ( 28332077 )
2017
3
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. ( 27568649 )
2016
4
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. ( 27449747 )
2016
5
Muenke syndrome: An international multicenter natural history study. ( 26740388 )
2016
6
Executive Function and Adaptive Behavior in Muenke Syndrome. ( 26028288 )
2015
7
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. ( 24705944 )
2014
8
Squamosal suture craniosynostosis in Muenke syndrome. ( 24448525 )
2014
9
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. ( 24168007 )
2013
10
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. ( 24145799 )
2013
11
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. ( 23378035 )
2013
12
Muenke syndrome associated with multiple osteochondromas. ( 22446440 )
2012
13
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. ( 22622662 )
2012
14
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). ( 22565872 )
2012
15
Phenotype profile of a genetic mouse model for Muenke syndrome. ( 22872265 )
2012
16
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. ( 23044018 )
2012
17
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. ( 21233754 )
2011
18
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. ( 21971908 )
2011
19
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. ( 21204234 )
2011
20
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. ( 22016144 )
2011
21
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. ( 22085076 )
2011
22
Additional phenotypic features of Muenke syndrome in 2 Dutch families. ( 21403557 )
2011
23
A Korean family with the Muenke syndrome. ( 20592905 )
2010
24
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. ( 19449001 )
2009
25
Significant phenotypic variability of Muenke syndrome in identical twins. ( 19449410 )
2009
26
Muenke syndrome with osteochondroma. ( 19097163 )
2009
27
Hearing loss in a mouse model of Muenke syndrome. ( 18818193 )
2009
28
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. ( 18000976 )
2007
29
Craniofacial morphology in Muenke syndrome. ( 17414289 )
2007
30
Trigonocephaly in Muenke syndrome. ( 17036334 )
2006
31
Muenke syndrome. ( 14963686 )
2004
32
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. ( 12794698 )
2003
33
Muenke Syndrome ( 20301588 )
1993

Variations for Muenke Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Muenke Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Pro250Arg VAR_004150 rs4647924

ClinVar genetic disease variations for Muenke Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571

Expression for Muenke Syndrome

Search GEO for disease gene expression data for Muenke Syndrome.

Pathways for Muenke Syndrome

Pathways related to Muenke Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.21 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
2
Show member pathways
14.07 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
3
Show member pathways
13.93 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
4
Show member pathways
13.88 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
5
Show member pathways
13.81 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
6
Show member pathways
13.8 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
7
Show member pathways
13.65 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
8
Show member pathways
13.63 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
9
Show member pathways
13.59 AKT3 EFNB1 FGF1 FGF10 FGF2 FGF7
10
Show member pathways
13.55 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
11
Show member pathways
13.51 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
12
Show member pathways
13.46 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13
Show member pathways
13.41 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
14
Show member pathways
13.41 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
15
Show member pathways
13.37 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
16
Show member pathways
13.22 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
17
Show member pathways
13.17 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
18
Show member pathways
13.16 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
19
Show member pathways
13.12 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
20
Show member pathways
12.96 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
21
Show member pathways
12.83 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
22
Show member pathways
12.82 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
23
Show member pathways
12.78 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
24 12.74 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
25 12.72 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
26
Show member pathways
12.71 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
27
Show member pathways
12.53 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
28
Show member pathways
12.49 AKT3 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.44 AKT3 FGFR1 FGFR2 FGFR3
30 12.44 AKT3 FGF2 FGFR1 IHH PTCH1 TWIST1
31 12.43 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
32
Show member pathways
12.37 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
33
Show member pathways
12.34 AKT3 FGF2 FGFR1 FGFR2 FGFR3
34
Show member pathways
12.34 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
35 12.25 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
36
Show member pathways
12.22 AKT3 FGFR1 FGFR2 FGFR3
37 12.22 AKT3 FGF2 FGFR1 FGFR2 FGFR3
38
Show member pathways
12.17 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
39 12.12 FGF10 FGF13 FGF2 FGF7
40
Show member pathways
12.11 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
41 12.07 FGF2 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
42
Show member pathways
12 FGF1 FGF2 FGF8 FGF9 FGFR1
43 12 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
44 11.97 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
45 11.94 FGF10 FGF2 FGF8 FGFR1 FGFR3
46 11.87 FGF10 FGF2 FGF8
47 11.85 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
48 11.84 FGF2 FGFR1 FGFR3 IHH PTCH1
49 11.8 AKT3 FGFR1 FGFR2 FGFR3
50
Show member pathways
11.77 FGF1 FGF2 FGF8 FGF9 FGFR3

GO Terms for Muenke Syndrome

Cellular components related to Muenke Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.36 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8

Biological processes related to Muenke Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
id Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.99 FGF10 FGF2 FGFR2 PTCH1
2 lung development GO:0030324 9.99 FGF1 FGF10 FGF8 FGF9 FGFR1 FGFR2
3 positive regulation of epithelial cell proliferation GO:0050679 9.98 FGF1 FGF10 FGF7 FGF9 FGFR2 IHH
4 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGF9 FGFR1 FGFR2
5 positive regulation of cell division GO:0051781 9.95 FGF1 FGF2 FGF7 FGF8 FGF9 FGFR2
6 positive regulation of angiogenesis GO:0045766 9.94 FGF1 FGF2 TWIST1
7 embryonic limb morphogenesis GO:0030326 9.94 FGF9 FGFR1 PTCH1 TWIST1
8 activation of MAPK activity GO:0000187 9.93 FGF1 FGF10 FGF2
9 epidermis development GO:0008544 9.93 FGF10 FGF7 PTCH1
10 osteoblast differentiation GO:0001649 9.93 FGF9 IHH TWIST1
11 neuron migration GO:0001764 9.93 FGF13 FGFR1 TWIST1
12 response to estradiol GO:0032355 9.93 FGF10 IHH PTCH1
13 wound healing GO:0042060 9.92 FGF10 FGF2 FGFR2
14 positive chemotaxis GO:0050918 9.92 FGF10 FGF2 FGF7 FGF8
15 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
16 embryonic pattern specification GO:0009880 9.9 EFNB1 FGF10 FGFR2 IHH
17 positive regulation of MAP kinase activity GO:0043406 9.89 FGF1 FGF2 FGFR1
18 bone development GO:0060348 9.89 FGF8 FGFR2 TWIST1
19 positive regulation of mesenchymal cell proliferation GO:0002053 9.89 FGF9 FGFR1 FGFR2 IHH
20 branching involved in ureteric bud morphogenesis GO:0001658 9.88 FGF2 FGF8 PTCH1
21 chondrocyte differentiation GO:0002062 9.88 FGF9 FGFR1 FGFR3
22 positive regulation of cardiac muscle cell proliferation GO:0060045 9.87 FGF2 FGF9 FGFR1 FGFR2
23 odontogenesis GO:0042476 9.86 FGF8 FGFR2 TWIST1
24 hair follicle morphogenesis GO:0031069 9.86 FGF10 FGF7 FGFR2
25 branching involved in salivary gland morphogenesis GO:0060445 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2
26 limb morphogenesis GO:0035108 9.83 FGF10 FGF8 PTCH1
27 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 PTCH1
28 organ induction GO:0001759 9.83 FGF1 FGF10 FGF8 FGFR1
29 embryonic digestive tract morphogenesis GO:0048557 9.82 FGF10 FGFR2 IHH
30 lung-associated mesenchyme development GO:0060484 9.81 FGF9 FGFR1 FGFR2
31 phosphatidylinositol phosphorylation GO:0046854 9.81 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32 positive regulation of phospholipase activity GO:0010518 9.8 FGFR1 FGFR2 FGFR3
33 otic vesicle formation GO:0030916 9.8 FGF10 FGF8 FGFR2
34 pharyngeal system development GO:0060037 9.76 FGF8 PTCH1
35 embryonic digestive tract development GO:0048566 9.76 FGF10 FGF9
36 somite development GO:0061053 9.75 IHH PTCH1
37 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.75 FGF10 FGF9
38 mesonephros development GO:0001823 9.75 FGF10 FGF8
39 generation of neurons GO:0048699 9.75 FGF8 FGFR1
40 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.75 FGF10 FGF7 FGFR1
41 keratinocyte proliferation GO:0043616 9.74 FGF10 PTCH1
42 organ growth GO:0035265 9.74 FGF10 FGFR2
43 hindlimb morphogenesis GO:0035137 9.74 PTCH1 TWIST1
44 chondrocyte proliferation GO:0035988 9.74 FGFR3 IHH
45 salivary gland morphogenesis GO:0007435 9.74 FGF10 FGFR1
46 limb bud formation GO:0060174 9.74 FGF10 FGFR2
47 mesenchymal cell differentiation GO:0048762 9.74 FGFR1 FGFR2
48 positive regulation of phospholipase C activity GO:0010863 9.73 FGF2 FGFR1
49 outer ear morphogenesis GO:0042473 9.73 FGFR1 TWIST1
50 positive regulation of keratinocyte proliferation GO:0010838 9.73 FGF10 FGF7

Molecular functions related to Muenke Syndrome according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.97 FGF1 FGF10 FGF2 FGF7 FGF9 FGFR1
2 protein kinase activity GO:0004672 9.95 AKT3 FGFR1 FGFR2 FGFR3 MARK3
3 nucleotide binding GO:0000166 9.95 AKT3 FGFR1 FGFR2 FGFR3 MARK3 RAB23
4 growth factor activity GO:0008083 9.95 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
5 protein tyrosine kinase activity GO:0004713 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.81 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
7 fibroblast growth factor receptor binding GO:0005104 9.8 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
8 chemoattractant activity GO:0042056 9.73 FGF10 FGF2 FGF7 FGF8
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.67 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 9.63 FGFR1 FGFR2 FGFR3
12 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.61 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13 patched binding GO:0005113 9.54 IHH PTCH1
14 receptor-receptor interaction GO:0090722 9.51 FGF2 FGFR1
15 1-phosphatidylinositol-3-kinase activity GO:0016303 9.28 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9

Sources for Muenke Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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