MNKES
MCID: MNK003
MIFTS: 57

Muenke Syndrome (MNKES)

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

Aliases & Classifications for Muenke Syndrome

MalaCards integrated aliases for Muenke Syndrome:

Name: Muenke Syndrome 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15 39 70
Muenke Nonsyndromic Coronal Craniosynostosis 57 20 43
Fgfr3-Associated Coronal Synostosis 43 72
Fgfr3-Related Craniosynostosis 12 72
Coronal Craniosynostosis 29 6
Muenke Non-Syndromic Coronal Craniosynostosis 72
Fgfr3-Related Isolated Coronal Synostosis 72
Syndrome of Coronal Craniosynostosis 20
Mnkes 57
Mnks 72

Characteristics:

Orphanet epidemiological data:

58
muenke syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
significant phenotypic variability
females more severely affected than males
birth rate of 7.6 per 1,000,000


HPO:

31
muenke syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Muenke Syndrome

MedlinePlus Genetics : 43 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.Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may also be malformed. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an enlarged head (macrocephaly). People with Muenke syndrome may also have mild abnormalities of the hands or feet, and hearing loss has been observed in some cases. Most people with this condition have normal intellect, but developmental delay and learning problems are possible.The signs and symptoms of Muenke syndrome vary among affected people, and some features overlap with those seen in other craniosynostosis syndromes. A small percentage of people with the gene mutation associated with Muenke syndrome do not have any of the characteristic features of the disorder.

MalaCards based summary : Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to isolated plagiocephaly and fgfr craniosynostosis syndromes. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. Affiliated tissues include myeloid, temporal lobe and bone, and related phenotypes are ptosis and hypertelorism

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.

GARD : 20 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.

OMIM® : 57 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. The phenotype is variable and can range from no detectable clinical manifestations to complex findings (summary by Abdel-Salam et al., 2011). (602849) (Updated 20-May-2021)

KEGG : 36 Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 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 top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 isolated plagiocephaly 30.3 TWIST1 TCF12 FGFR3
2 fgfr craniosynostosis syndromes 30.3 FGFR3 FGFR2 FGFR1
3 hypertelorism 30.3 TWIST1 FGFR2 EFNB1
4 isolated brachycephaly 30.1 TWIST1 TCF12 FGFR3
5 hypochondroplasia 30.0 FGFR3 FGFR2 FGFR1
6 osteochondroma 30.0 FGFR3 FGFR1 FGF9
7 achondroplasia 29.9 MSX2 FGFR3 FGFR2 FGFR1
8 craniosynostosis 1 29.9 TWIST1 TCF12 FGFR3 FGFR2
9 plagiocephaly 29.9 TWIST1 FGFR3 FGFR2 FGFR1
10 semilobar holoprosencephaly 29.7 FGFR1 FGF8
11 syndromic craniosynostosis 29.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
12 holoprosencephaly 29.3 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
13 cleft palate, isolated 29.1 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
14 synostosis 29.1 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
15 chromosome 2q35 duplication syndrome 28.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
16 saethre-chotzen syndrome 27.9 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
17 craniosynostosis 27.8 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
18 crouzon syndrome 27.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF9
19 apert syndrome 27.3 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
20 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 11.2
21 baller-gerold syndrome 11.1
22 curry-jones syndrome 11.1
23 fontaine progeroid syndrome 11.1
24 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
25 sensorineural hearing loss 10.3
26 isolated oxycephaly 10.2
27 testicular spermatocytic seminoma 10.2 FGFR3 FGFR2
28 luteoma 10.2 FGFR3 FGFR2
29 myeloid leukemia 10.2
30 hepatocellular clear cell carcinoma 10.2 FGFR2 FGFR1
31 alacrima, achalasia, and mental retardation syndrome 10.2
32 hartsfield syndrome 10.2 FGFR1 FGF8
33 leukemia, acute myeloid 10.2
34 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.2 FGFR3 FGFR2 FGFR1
35 clear cell acanthoma 10.2 FGFR2 FGF10
36 osteoglophonic dysplasia 10.1 FGFR3 FGFR2 FGFR1
37 hydrocephalus 10.1
38 lobar holoprosencephaly 10.1 FGFR1 FGF8
39 antley-bixler syndrome 10.1 FGFR3 FGFR2 FGFR1
40 nevus, epidermal 10.1 FGFR3 FGFR2 FGFR1
41 hemifacial hyperplasia 10.1 FGFR3 FGFR2 EFNB1
42 frontonasal dysplasia 1 10.1
43 exposure keratitis 10.1 TCF12 FGFR2 EFNB1
44 beare-stevenson cutis gyrata syndrome 10.1 FGFR3 FGFR2 EFNB1
45 microform holoprosencephaly 10.1 FGFR1 FGF8
46 dacryocystocele 10.1 FGFR3 FGFR2 FGF10
47 aplasia of lacrimal and salivary glands 10.1 FGFR2 FGF10
48 chronic inflammation of lacrimal passage 10.1 FGFR3 FGFR2 FGF10
49 acanthoma 10.1 FGFR3 FGFR2 FGF10
50 cleidocranial dysplasia 10.1 MSX2 FGFR2 FGFR1

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



Diseases related to Muenke Syndrome

Symptoms & Phenotypes for Muenke Syndrome

Human phenotypes related to Muenke Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
2 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
3 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
4 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
5 brachycephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000248
6 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
7 proptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000520
8 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
9 plagiocephaly 58 31 very rare (1%) Frequent (79-30%) HP:0001357
10 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
11 cone-shaped epiphysis 58 31 frequent (33%) Frequent (79-30%) HP:0010579
12 tarsal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0008368
13 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
14 carpal synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0009702
15 coronal craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004440
16 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 global developmental delay 58 31 very rare (1%) Occasional (29-5%) HP:0001263
19 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
20 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
21 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
22 intellectual disability 31 very rare (1%) HP:0001249
23 high palate 31 very rare (1%) HP:0000218
24 hearing impairment 31 very rare (1%) HP:0000365
25 broad thumb 31 very rare (1%) HP:0011304
26 strabismus 31 very rare (1%) HP:0000486
27 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
28 recurrent otitis media 31 very rare (1%) HP:0000403
29 brachydactyly 31 very rare (1%) HP:0001156
30 amblyopia 31 very rare (1%) HP:0000646
31 midface retrusion 31 very rare (1%) HP:0011800
32 cone-shaped epiphyses of the phalanges of the hand 31 very rare (1%) HP:0010230
33 clinodactyly 31 very rare (1%) HP:0030084
34 broad hallux 31 very rare (1%) HP:0010055
35 seizure 31 very rare (1%) HP:0001250
36 thimble-shaped middle phalanges of hand 31 very rare (1%) HP:0006193
37 dental malocclusion 31 HP:0000689
38 downslanted palpebral fissures 31 HP:0000494
39 low anterior hairline 31 HP:0000294
40 capitate-hamate fusion 31 HP:0001241
41 radial deviation of finger 31 HP:0009466
42 short middle phalanx of finger 31 HP:0005819
43 short middle phalanx of toe 31 HP:0003795
44 temporal bossing 31 HP:0032569

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
brachycephaly
plagiocephaly

Head And Neck Mouth:
dental malocclusion
high-arched palate

Neurologic Central Nervous System:
developmental delay
mental retardation

Growth Height:
normal height

Skeletal Feet:
broad halluces
short middle phalanges
coned epiphyses
calcaneocuboidal fusions

Skeletal Skull:
coronal craniosynostosis (unicoronal or bicoronal, unilateral or bilateral)
bulging of temporal fossae

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
downslanting palpebral fissures

Skeletal Hands:
brachydactyly
clinodactyly
coned epiphyses
broad, thimble-like middle phalanges
capitate-hamate fusions

Head And Neck Face:
midface hypoplasia
low-set frontal hairline

Head And Neck Ears:
hearing loss, sensorineural

Skin Nails Hair Hair:
low-set frontal hairline

Clinical features from OMIM®:

602849 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Muenke Syndrome:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ARID1B EFNA4 FGF10 FGF8 FGF9 FGFR1
2 growth/size/body region MP:0005378 10.33 ARID1B BBS9 EFNB1 FGF10 FGF8 FGF9
3 craniofacial MP:0005382 10.28 ARID1B EFNB1 FGF10 FGF8 FGF9 FGFR1
4 hematopoietic system MP:0005397 10.26 ARID1B EFNB1 FGF10 FGF8 FGF9 FGFR1
5 digestive/alimentary MP:0005381 10.23 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
6 mortality/aging MP:0010768 10.2 ARID1B EFNB1 FGF10 FGF8 FGF9 FGFR1
7 limbs/digits/tail MP:0005371 10.18 BBS9 EFNB1 FGF10 FGF8 FGF9 FGFR1
8 embryo MP:0005380 10.17 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
9 endocrine/exocrine gland MP:0005379 10.16 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
10 immune system MP:0005387 10.16 ARID1B EFNB1 FGF10 FGF8 FGFR1 FGFR2
11 hearing/vestibular/ear MP:0005377 10.14 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
12 integument MP:0010771 10.1 ARID1B EFNB1 FGF10 FGF9 FGFR1 FGFR2
13 nervous system MP:0003631 10.1 ARID1B EFNB1 FGF10 FGF8 FGFR1 FGFR2
14 muscle MP:0005369 10.03 ARID1B FGF10 FGF8 FGF9 FGFR1 FGFR2
15 normal MP:0002873 9.91 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
16 renal/urinary system MP:0005367 9.87 ARID1B FGF10 FGF8 FGF9 FGFR1 FGFR2
17 reproductive system MP:0005389 9.86 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
18 skeleton MP:0005390 9.65 BBS9 EFNB1 FGF10 FGF8 FGF9 FGFR1
19 respiratory system MP:0005388 9.63 EFNB1 FGF10 FGF8 FGF9 FGFR2 FGFR3
20 vision/eye MP:0005391 9.32 EFNA4 EFNB1 FGF10 FGF8 FGF9 FGFR1

Drugs & Therapeutics for Muenke Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Completed NCT00106977

Search NIH Clinical Center for Muenke Syndrome

Cochrane evidence based reviews: muenke syndrome

Genetic Tests for Muenke Syndrome

Genetic tests related to Muenke Syndrome:

# Genetic test Affiliating Genes
1 Muenke Syndrome 29 FGFR3
2 Coronal Craniosynostosis 29

Anatomical Context for Muenke Syndrome

MalaCards organs/tissues related to Muenke Syndrome:

40
Myeloid, Temporal Lobe, Bone, Brain, Skin

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 61 54 25 57 6
15241680 2004
2
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 25 57 6
11746040 2001
3
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 25 57 6
9950359 1999
4
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 25 57 6
9580776 1998
5
Deafness due to Pro250Arg mutation of FGFR3. 57 6 25
9525367 1998
6
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 25 6 57
9279753 1997
7
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 25 57 6
9279764 1997
8
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 25 6 57
9042914 1997
9
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 57 54 25 61
18000976 2007
10
Sudden infant death in a patient with FGFR3 P250R mutation. 54 57 25 61
17103449 2006
11
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. 54 61 25 57
12794698 2003
12
Significant phenotypic variability of Muenke syndrome in identical twins. 57 61 25
19449410 2009
13
Hearing loss in a mouse model of Muenke syndrome. 57 25 61
18818193 2009
14
Trigonocephaly in Muenke syndrome. 57 25 61
17036334 2006
15
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 57 25 54
16251895 2006
16
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 6 25 61
14613973 2004
17
Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal. 61 54 6
19215249 2009
18
Nonpenetrance in FGFR3-associated coronal synostosis syndrome. 25 6
9843059 1998
19
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 25 6
9600744 1998
20
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. 6 25
9107244 1997
21
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 25 6
8841188 1996
22
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. 61 57
21204234 2011
23
Muenke syndrome. 25 54 61
14963686 2004
24
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
25
Muenke syndrome: An international multicenter natural history study. 25 61
26740388 2016
26
Executive Function and Adaptive Behavior in Muenke Syndrome. 25 61
26028288 2015
27
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 25 61
25441602 2014
28
Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation. 25 61
24705944 2014
29
Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. 61 25
24864183 2014
30
Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms. 61 25
24686979 2014
31
Squamosal suture craniosynostosis in Muenke syndrome. 61 25
24448525 2014
32
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. 61 25
24145799 2013
33
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. 61 25
23378035 2013
34
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis. 25 61
22234545 2012
35
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. 61 25
22085076 2011
36
Audiological profile of children and young adults with syndromic and complex craniosynostosis. 61 25
21844411 2011
37
Obstructive sleep apnea-specific quality of life and behavioral problems in children with syndromic craniosynostosis. 25 61
21297497 2011
38
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy. 25 61
21403567 2011
39
Additional phenotypic features of Muenke syndrome in 2 Dutch families. 25 61
21403557 2011
40
A Korean family with the Muenke syndrome. 61 25
20592905 2010
41
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. 61 25
19449001 2009
42
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 61 25
18317141 2008
43
Craniofacial morphology in Muenke syndrome. 61 25
17414289 2007
44
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 6
16912704 2006
45
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 54 25
17070479 2006
46
Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. 6
11424131 2001
47
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 6
10094188 1999
48
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 6
9585583 1998
49
Craniosynostosis: genes and mechanisms. 57
9300656 1997
50
Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. 6
8723106 1996

Variations for Muenke Syndrome

ClinVar genetic disease variations for Muenke Syndrome:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) SNV Pathogenic 16339 rs121913483 GRCh37: 4:1803568-1803568
GRCh38: 4:1801841-1801841
2 FGFR3 NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) SNV Pathogenic 65855 rs121913105 GRCh37: 4:1807890-1807890
GRCh38: 4:1806163-1806163
3 FGFR3 NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu) SNV Pathogenic 16358 rs121913116 GRCh37: 4:1801122-1801122
GRCh38: 4:1799395-1799395
4 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
5 FGFR3 NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) SNV Pathogenic 16332 rs121913482 GRCh37: 4:1803564-1803564
GRCh38: 4:1801837-1801837
6 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
7 FGFR3 NM_000142.5(FGFR3):c.1138G>A SNV Pathogenic 16327 rs28931614 GRCh37: 4:1806119-1806119
GRCh38: 4:1804392-1804392
8 FGFR3 NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) SNV Pathogenic 16338 rs28933068 GRCh37: 4:1807371-1807371
GRCh38: 4:1805644-1805644
9 FGFR3 NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) SNV Pathogenic/Likely pathogenic 16340 rs4647924 GRCh37: 4:1803571-1803571
GRCh38: 4:1801844-1801844
10 TCF12 NM_207037.2(TCF12):c.1467+1G>C SNV Likely pathogenic 560378 rs1566992093 GRCh37: 15:57545667-57545667
GRCh38: 15:57253469-57253469
11 TWIST1 NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile) Indel Uncertain significance 637010 rs1585617012 GRCh37: 7:19156546-19156547
GRCh38: 7:19116923-19116924
12 TWIST1 NM_000474.4(TWIST1):c.379G>A (p.Ala127Thr) SNV Uncertain significance 637009 rs1585617064 GRCh37: 7:19156566-19156566
GRCh38: 7:19116943-19116943
13 FGFR3 NM_000142.5(FGFR3):c.517C>T (p.Arg173Cys) SNV Uncertain significance 975837 GRCh37: 4:1803165-1803165
GRCh38: 4:1801438-1801438
14 FGFR3 NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp) SNV Uncertain significance 546226 rs369232922 GRCh37: 4:1801071-1801071
GRCh38: 4:1799344-1799344
15 FGFR3 NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) SNV Uncertain significance 465350 rs764892330 GRCh37: 4:1808017-1808017
GRCh38: 4:1806290-1806290
16 FGFR3 NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) SNV Uncertain significance 521225 rs139773438 GRCh37: 4:1808395-1808395
GRCh38: 4:1806668-1806668

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

72
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Pro250Arg VAR_004150 rs4647924

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 all 40)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 TCF12 FGFR3 FGFR2 FGFR1 FGF9 FGF8
2
Show member pathways
13.38 TCF12 FGFR3 FGFR2 FGFR1 FGF9 FGF8
3
Show member pathways
13.34 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
4
Show member pathways
13.28 TWIST1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
5
Show member pathways
13.21 TCF12 FGFR3 FGFR2 FGFR1 FGF8 FGF10
6
Show member pathways
13.05 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
7
Show member pathways
12.97 FGFR3 FGFR2 FGFR1 FGF8 FGF10
8
Show member pathways
12.95 FGFR3 FGFR2 FGFR1 FGF8 FGF10
9
Show member pathways
12.92 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
10
Show member pathways
12.8 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
11 12.79 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
12
Show member pathways
12.7 FGFR2 FGFR1 FGF9 FGF8 FGF10 ARID1B
13
Show member pathways
12.66 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
14
Show member pathways
12.65 FGFR3 FGFR2 FGFR1 FGF8 FGF10
15
Show member pathways
12.61 FGFR2 FGFR1 FGF9 FGF8 FGF10
16 12.58 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
17 12.57 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
18
Show member pathways
12.51 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
19
Show member pathways
12.5 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
20
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF8 FGF10
21
Show member pathways
12.31 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
22
Show member pathways
12.31 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
23 12.26 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
24
Show member pathways
12.21 FGFR3 FGFR2 FGFR1 FGF8 FGF10
25
Show member pathways
12.15 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
26 12.08 FGFR3 FGFR2 FGFR1 EFNB1
27 12.01 FGFR3 FGFR2 FGFR1
28
Show member pathways
11.92 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
29 11.83 FGFR3 FGFR2 FGFR1 EFNB1
30 11.82 MSX2 FGF8 FGF10
31
Show member pathways
11.79 FGFR1 FGF9 FGF8
32 11.77 FGFR3 FGFR1 FGF8 FGF10
33 11.67 FGFR3 FGFR2 FGFR1
34 11.64 FGFR3 FGFR2 FGFR1 FGF8 FGF10 EFNA4
35
Show member pathways
11.63 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
36
Show member pathways
11.59 FGFR3 FGF9 FGF8
37 11.46 FGFR3 FGFR2 FGFR1
38 11.43 FGFR3 FGFR2 FGFR1
39 11.11 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
40 10.96 FGFR3 FGFR2 FGFR1 FGF8 FGF10

GO Terms for Muenke Syndrome

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.12 TWIST1 TCF12 FGF9 FGF8 FGF10 EFNB1
2 positive regulation of gene expression GO:0010628 10.02 TWIST1 TCF12 FGF9 FGF8 FGF10
3 positive regulation of cell proliferation GO:0008284 9.99 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
4 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.92 FGFR3 FGFR2 FGF8 FGF10
5 protein autophosphorylation GO:0046777 9.88 FGFR3 FGFR2 FGFR1
6 animal organ morphogenesis GO:0009887 9.88 FGFR2 FGF9 FGF8 FGF10
7 peptidyl-tyrosine phosphorylation GO:0018108 9.86 FGFR3 FGFR2 FGFR1
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.85 FGFR3 FGFR2 FGFR1
9 regulation of cell migration GO:0030334 9.85 FGF9 FGF8 FGF10
10 MAPK cascade GO:0000165 9.85 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
11 positive regulation of kinase activity GO:0033674 9.83 FGFR3 FGFR2 FGFR1
12 multicellular organism development GO:0007275 9.81 TWIST1 TCF12 MSX2 FGFR3 FGFR2 FGFR1
13 lung development GO:0030324 9.8 FGFR2 FGF9 FGF8 FGF10
14 inner ear morphogenesis GO:0042472 9.79 FGFR2 FGF8 FGF10
15 bone development GO:0060348 9.78 TWIST1 FGFR2 FGF8
16 positive regulation of epithelial cell proliferation GO:0050679 9.78 TWIST1 FGFR2 FGF9 FGF10
17 positive regulation of cell division GO:0051781 9.77 FGFR2 FGF9 FGF8
18 odontogenesis GO:0042476 9.75 TWIST1 FGFR2 FGF8
19 cell-cell signaling GO:0007267 9.73 FGFR3 FGFR2 FGF9 FGF10 EFNB1 EFNA4
20 positive regulation of MAPK cascade GO:0043410 9.72 FGFR3 FGFR2 FGFR1 FGF9 FGF10
21 embryonic hindlimb morphogenesis GO:0035116 9.7 TWIST1 FGF8
22 hair follicle morphogenesis GO:0031069 9.7 FGFR2 FGF10
23 outflow tract septum morphogenesis GO:0003148 9.7 FGFR2 FGF8
24 embryonic pattern specification GO:0009880 9.7 FGFR2 FGF10 EFNB1
25 limb morphogenesis GO:0035108 9.69 FGF8 FGF10
26 thyroid gland development GO:0030878 9.69 FGF8 FGF10
27 regulation of smoothened signaling pathway GO:0008589 9.69 FGFR2 FGF10
28 lung morphogenesis GO:0060425 9.68 FGF8 FGF10
29 embryonic digestive tract morphogenesis GO:0048557 9.68 FGFR2 FGF10
30 mesonephros development GO:0001823 9.67 FGF8 FGF10
31 limb bud formation GO:0060174 9.67 FGFR2 FGF10
32 organ growth GO:0035265 9.66 FGFR2 FGF10
33 organ induction GO:0001759 9.66 FGF8 FGF10
34 endochondral bone growth GO:0003416 9.65 FGFR3 FGFR2
35 bud elongation involved in lung branching GO:0060449 9.64 FGFR2 FGF10
36 epidermis morphogenesis GO:0048730 9.64 FGFR2 FGF10
37 lacrimal gland development GO:0032808 9.63 FGFR2 FGF10
38 cranial suture morphogenesis GO:0060363 9.63 TWIST1 MSX2
39 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR2 FGF8 FGF10
40 positive regulation of phospholipase activity GO:0010518 9.61 FGFR3 FGFR2 FGFR1
41 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.6 FGFR2 FGF10
42 otic vesicle formation GO:0030916 9.58 FGFR2 FGF8 FGF10
43 mesenchymal cell differentiation involved in lung development GO:0060915 9.57 FGFR2 FGF10
44 branch elongation involved in salivary gland morphogenesis GO:0060667 9.56 FGFR2 FGF10
45 mammary gland bud formation GO:0060615 9.55 FGFR2 FGF10
46 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.54 FGFR2 FGF10
47 positive regulation of protein kinase B signaling GO:0051897 9.43 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
48 fibroblast growth factor receptor signaling pathway GO:0008543 9.1 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.63 FGF9 FGF8 FGF10
2 protein tyrosine kinase activity GO:0004713 9.58 FGFR3 FGFR2 FGFR1
3 heparin binding GO:0008201 9.56 FGFR2 FGFR1 FGF9 FGF10
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.5 FGFR3 FGFR2 FGFR1
5 ephrin receptor binding GO:0046875 9.48 EFNB1 EFNA4
6 bHLH transcription factor binding GO:0043425 9.43 TWIST1 TCF12
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.37 FGF8 FGF10
8 fibroblast growth factor receptor binding GO:0005104 9.33 FGF9 FGF8 FGF10
9 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR3 FGFR2 FGFR1

Sources for Muenke Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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