MNKES
MCID: MNK003
MIFTS: 59

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 56 12 74 24 52 25 58 73 36 29 13 54 6 43 15 39 71
Muenke Nonsyndromic Coronal Craniosynostosis 56 52 25
Fgfr3-Associated Coronal Synostosis 25 73
Fgfr3-Related Craniosynostosis 12 73
Coronal Craniosynostosis 29 6
Muenke Non-Syndromic Coronal Craniosynostosis 73
Fgfr3-Related Isolated Coronal Synostosis 73
Syndrome of Coronal Craniosynostosis 52
Mnkes 56
Mnks 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

24
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

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. 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 isolated brachycephaly. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta Pathway. Affiliated tissues include bone, eye and skin, and related phenotypes are hypertelorism and increased intracranial pressure

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 161)
# Related Disease Score Top Affiliating Genes
1 isolated plagiocephaly 30.8 TWIST1 FGFR3
2 isolated brachycephaly 30.6 TWIST1 FGFR3
3 fgfr craniosynostosis syndromes 30.6 FGFR3 FGFR2 FGFR1
4 hypertelorism 30.6 TWIST1 FGFR2 EFNB1
5 osteochondroma 30.3 FGFR3 FGFR1 FGF9
6 hypochondroplasia 30.3 FGFR3 FGFR2 FGFR1
7 hydrocephalus 30.3 TWIST1 FGFR3 FGFR2 FGFR1
8 plagiocephaly 30.1 TWIST1 FGFR3 FGFR2 FGFR1
9 cleft lip 29.9 FGFR1 FGF8 FGF10
10 semilobar holoprosencephaly 29.9 FGFR1 FGF8
11 holoprosencephaly 29.7 TWIST1 FGFR3 FGFR2 FGFR1 FGF8
12 syndromic craniosynostosis 29.7 TWIST1 MSX2 FGFR3 FGFR2 FGFR1
13 cleft palate, isolated 29.2 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
14 brachydactyly 29.1 RAB23 MSX2 FGFR3 FGF9
15 synostosis 28.8 TWIST1 RAB23 MSX2 FGFR3 FGFR2 FGFR1
16 craniosynostosis 28.6 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF9
17 chromosome 2q35 duplication syndrome 27.6 TWIST1 RAB23 MSX2 FGFR3 FGFR2 FGFR1
18 crouzon syndrome 27.5 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF9
19 saethre-chotzen syndrome 27.0 TWIST1 RAB23 MSX2 HMX2 FGFR3 FGFR2
20 apert syndrome 26.3 TWIST1 RAB23 MSX2 FGFR3 FGFR2 FGFR1
21 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.4
22 menkes disease 12.3
23 baller-gerold syndrome 11.4
24 curry-jones syndrome 11.4
25 fontaine progeroid syndrome 11.4
26 leukemia, acute myeloid 10.5
27 myeloid leukemia 10.5
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
29 testicular spermatocytic seminoma 10.4 FGFR3 FGFR2
30 sensorineural hearing loss 10.3
31 occipital horn syndrome 10.3
32 luteoma 10.3 FGFR3 FGFR2
33 congenital hypogonadotropic hypogonadism 10.3 FGFR1 FGF8
34 clear cell acanthoma 10.3 FGFR2 FGF10
35 hartsfield syndrome 10.3 FGFR1 FGF8
36 alacrima, achalasia, and mental retardation syndrome 10.3
37 exposure keratitis 10.2 FGFR2 EFNB1
38 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.2 FGFR3 FGFR2 FGFR1
39 isolated oxycephaly 10.2
40 syngnathia 10.2 MSX2 FGF8
41 beare-stevenson cutis gyrata syndrome 10.2 FGFR3 FGFR2
42 corpus callosum lipoma 10.2 MSX2 FGFR1
43 lobar holoprosencephaly 10.2 FGFR1 FGF8
44 antley-bixler syndrome 10.2 FGFR3 FGFR2 FGFR1
45 cerebral hemisphere lipoma 10.2 MSX2 FGFR1
46 nevus, epidermal 10.2 FGFR3 FGFR2 FGFR1
47 dacryocystocele 10.2 FGFR3 FGFR2 FGF10
48 hemifacial hyperplasia 10.2 FGFR3 FGFR2 EFNB1
49 chronic inflammation of lacrimal passage 10.2 FGFR3 FGFR2 FGF10
50 acanthoma 10.2 FGFR3 FGFR2 FGF10

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 hypertelorism 58 31 very rare (1%) Frequent (79-30%) HP:0000316
2 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
3 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
4 brachycephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000248
5 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
6 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
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 global developmental delay 58 31 very rare (1%) Occasional (29-5%) HP:0001263
17 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
18 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
19 hypermelanotic macule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001034
20 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
21 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
22 hearing impairment 31 very rare (1%) HP:0000365
23 intellectual disability 31 very rare (1%) HP:0001249
24 broad thumb 31 very rare (1%) HP:0011304
25 strabismus 31 very rare (1%) HP:0000486
26 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
27 high palate 31 very rare (1%) HP:0000218
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:

56
Head And Neck Eyes:
hypertelorism
strabismus
ptosis
downslanting palpebral fissures

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 Head:
macrocephaly
brachycephaly
plagiocephaly

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

MGI Mouse Phenotypes related to Muenke Syndrome:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ARID1B FGF10 FGF13 FGF8 FGF9 FGFR1
2 growth/size/body region MP:0005378 10.3 ARID1B BBS9 EFNB1 FGF10 FGF8 FGF9
3 mortality/aging MP:0010768 10.25 ARID1B EFNB1 FGF10 FGF13 FGF8 FGF9
4 cellular MP:0005384 10.23 EFNB1 FGF10 FGF13 FGF8 FGF9 FGFR1
5 craniofacial MP:0005382 10.22 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
6 digestive/alimentary MP:0005381 10.21 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
7 embryo MP:0005380 10.2 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
8 limbs/digits/tail MP:0005371 10.2 BBS9 EFNB1 FGF10 FGF8 FGF9 FGFR1
9 cardiovascular system MP:0005385 10.19 ARID1B FGF10 FGF8 FGF9 FGFR1 FGFR2
10 hearing/vestibular/ear MP:0005377 10.16 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
11 hematopoietic system MP:0005397 10.15 ARID1B EFNB1 FGF10 FGF8 FGF9 FGFR1
12 nervous system MP:0003631 10.15 ARID1B EFNB1 FGF10 FGF13 FGF8 FGFR1
13 endocrine/exocrine gland MP:0005379 10.14 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2
14 integument MP:0010771 10.13 ARID1B EFNB1 FGF10 FGF9 FGFR1 FGFR2
15 muscle MP:0005369 10.06 ARID1B FGF10 FGF8 FGF9 FGFR1 FGFR2
16 normal MP:0002873 9.87 FGF10 FGF8 FGF9 FGFR1 FGFR2 FGFR3
17 renal/urinary system MP:0005367 9.86 ARID1B FGF10 FGF8 FGF9 FGFR1 FGFR2
18 skeleton MP:0005390 9.77 ARID1B BBS9 EFNB1 FGF10 FGF8 FGF9
19 respiratory system MP:0005388 9.63 EFNB1 FGF10 FGF8 FGF9 FGFR2 FGFR3
20 vision/eye MP:0005391 9.32 EFNB1 FGF10 FGF8 FGF9 FGFR1 FGFR2

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
2 Craniosynostosis Network Recruiting NCT03025763

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
Bone, Eye, Skin, Testes, Temporal Lobe

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show top 50) (show all 123)
# Title Authors PMID Year
1
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis. 6 54 56 24 61
15241680 2004
2
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 56 24 6
11746040 2001
3
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 6 56 24
9950359 1999
4
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. 24 6 56
9580776 1998
5
Deafness due to Pro250Arg mutation of FGFR3. 24 6 56
9525367 1998
6
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 6 24 56
9279753 1997
7
Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. 6 56 24
9279764 1997
8
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 24 6 56
9042914 1997
9
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 61 54 24 56
18000976 2007
10
Sudden infant death in a patient with FGFR3 P250R mutation. 61 56 54 24
17103449 2006
11
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. 24 56 54 61
12794698 2003
12
Significant phenotypic variability of Muenke syndrome in identical twins. 56 24 61
19449410 2009
13
Hearing loss in a mouse model of Muenke syndrome. 56 61 24
18818193 2009
14
Trigonocephaly in Muenke syndrome. 61 56 24
17036334 2006
15
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. 56 24 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 61 24
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. 54 6 61
19215249 2009
18
Nonpenetrance in FGFR3-associated coronal synostosis syndrome. 6 24
9843059 1998
19
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 6 24
9600744 1998
20
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. 24 6
9107244 1997
21
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. 6 24
8841188 1996
22
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. 56 61
21204234 2011
23
Muenke Syndrome 61 6
20301588 2006
24
Muenke syndrome. 24 54 61
14963686 2004
25
Muenke syndrome: An international multicenter natural history study. 61 24
26740388 2016
26
Executive Function and Adaptive Behavior in Muenke Syndrome. 24 61
26028288 2015
27
Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. 24 61
25441602 2014
28
Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation. 61 24
24705944 2014
29
Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanisms. 24 61
24686979 2014
30
Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis. 61 24
24864183 2014
31
Squamosal suture craniosynostosis in Muenke syndrome. 61 24
24448525 2014
32
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. 24 61
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 24
23378035 2013
34
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis. 61 24
22234545 2012
35
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. 24 61
22085076 2011
36
Audiological profile of children and young adults with syndromic and complex craniosynostosis. 24 61
21844411 2011
37
Obstructive sleep apnea-specific quality of life and behavioral problems in children with syndromic craniosynostosis. 24 61
21297497 2011
38
Additional phenotypic features of Muenke syndrome in 2 Dutch families. 24 61
21403557 2011
39
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy. 61 24
21403567 2011
40
A Korean family with the Muenke syndrome. 61 24
20592905 2010
41
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. 61 24
19449001 2009
42
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis. 24 61
18317141 2008
43
Craniofacial morphology in Muenke syndrome. 61 24
17414289 2007
44
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. 54 24
17070479 2006
45
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
46
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 6
10094188 1999
47
FGFR Craniosynostosis Syndromes Overview 6
20301628 1998
48
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 6
9585583 1998
49
Craniosynostosis: genes and mechanisms. 56
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 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
2 FGFR3 NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys)SNV Pathogenic 16338 rs28933068 4:1807371-1807371 4:1805644-1805644
3 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
4 FGFR3 NM_001163213.1(FGFR3):c.251C>T (p.Ser84Leu)SNV Pathogenic 16358 rs121913116 4:1801122-1801122 4:1799395-1799395
5 FGFR3 NM_001163213.1(FGFR3):c.1955A>C (p.Lys652Thr)SNV Pathogenic 65855 rs121913105 4:1807890-1807890 4:1806163-1806163
6 FGFR3 NM_001163213.1(FGFR3):c.749C>G (p.Pro250Arg)SNV Pathogenic/Likely pathogenic 16340 rs4647924 4:1803571-1803571 4:1801844-1801844
7 TCF12 NM_207037.2(TCF12):c.1467+1G>CSNV Likely pathogenic 560378 rs1566992093 15:57545667-57545667 15:57253469-57253469
8 FGFR3 NM_001163213.1(FGFR3):c.1144G>A (p.Gly382Arg)SNV Conflicting interpretations of pathogenicity 16327 rs28931614 4:1806119-1806119 4:1804392-1804392
9 TWIST1 NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile)indel Uncertain significance 637010 7:19156546-19156547 7:19116923-19116924
10 TWIST1 NM_000474.4(TWIST1):c.379G>A (p.Ala127Thr)SNV Uncertain significance 637009 7:19156566-19156566 7:19116943-19116943
11 FGFR3 NM_001163213.1(FGFR3):c.1999G>T (p.Ala667Ser)SNV Uncertain significance 465350 rs764892330 4:1808017-1808017 4:1806290-1806290
12 FGFR3 NM_001163213.1(FGFR3):c.2159A>G (p.Asn720Ser)SNV Uncertain significance 521225 rs139773438 4:1808395-1808395 4:1806668-1806668
13 FGFR3 NM_001163213.1(FGFR3):c.200G>A (p.Gly67Asp)SNV Uncertain significance 546226 rs369232922 4:1801071-1801071 4:1799344-1799344

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

73
# 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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
2
Show member pathways
13.45 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
3
Show member pathways
13.41 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
4
Show member pathways
13.35 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
5
Show member pathways
13.31 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
6
Show member pathways
13.3 TWIST1 FGFR3 FGFR2 FGFR1 FGF9 FGF8
7
Show member pathways
13.24 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
8
Show member pathways
13.22 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
9
Show member pathways
13.2 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
10
Show member pathways
13.06 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
11
Show member pathways
13.01 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
12
Show member pathways
12.99 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
13
Show member pathways
12.92 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
14
Show member pathways
12.81 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
15 12.79 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
16 12.7 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
17
Show member pathways
12.69 FGFR2 FGFR1 FGF9 FGF8 FGF10 ARID1B
18
Show member pathways
12.65 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
19
Show member pathways
12.63 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
20
Show member pathways
12.62 FGFR2 FGFR1 FGF9 FGF8 FGF10
21
Show member pathways
12.59 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
22
Show member pathways
12.45 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
23 12.43 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
24
Show member pathways
12.34 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
25
Show member pathways
12.28 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
26
Show member pathways
12.16 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
27
Show member pathways
12.13 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
28 12.08 FGFR3 FGFR2 FGFR1 EFNB1
29
Show member pathways
12.08 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
30 12.02 FGFR3 FGFR2 FGFR1
31
Show member pathways
11.93 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
32 11.83 FGFR3 FGFR2 FGFR1 EFNB1
33 11.82 MSX2 FGF8 FGF10
34
Show member pathways
11.79 FGFR1 FGF9 FGF8
35 11.74 FGFR3 FGFR1 FGF8 FGF10
36 11.68 FGFR3 FGFR2 FGFR1
37 11.6 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10
38
Show member pathways
11.59 FGFR3 FGF9 FGF8
39
Show member pathways
11.58 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
40 11.46 FGFR3 FGFR2 FGFR1
41 11.44 TWIST1 MSX2 FGFR3 FGFR2 FGFR1 FGF8
42 11.43 FGFR3 FGFR2 FGFR1
43 10.98 FGFR3 FGFR2 FGFR1 FGF8 FGF13 FGF10

GO Terms for Muenke Syndrome

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

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.17 TWIST1 HMX2 FGF9 FGF8 FGF10 EFNB1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.13 TWIST1 MSX2 FGFR2 FGFR1 FGF9
3 positive regulation of cell proliferation GO:0008284 10.05 HMX2 FGFR3 FGFR2 FGFR1 FGF9 FGF8
4 multicellular organism development GO:0007275 10.02 TWIST1 RAB23 MSX2 HMX2 FGFR3 FGFR2
5 angiogenesis GO:0001525 9.99 FGFR2 FGFR1 FGF9 FGF10
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.98 FGFR3 FGFR2 FGF8 FGF10
7 positive regulation of canonical Wnt signaling pathway GO:0090263 9.91 FGFR2 FGF9 FGF10
8 cell-cell signaling GO:0007267 9.91 FGFR3 FGFR2 FGF9 FGF13 FGF10 EFNB1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.9 FGFR3 FGFR2 FGFR1
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.9 FGFR3 FGFR2 FGFR1
11 neuron migration GO:0001764 9.89 TWIST1 FGFR1 FGF13
12 osteoblast differentiation GO:0001649 9.89 TWIST1 MSX2 FGF9
13 wound healing GO:0042060 9.88 MSX2 FGFR2 FGF10
14 positive regulation of epithelial cell proliferation GO:0050679 9.88 TWIST1 FGFR2 FGF9 FGF10
15 positive regulation of MAPK cascade GO:0043410 9.88 FGFR3 FGFR2 FGFR1 FGF9 FGF10
16 positive regulation of kinase activity GO:0033674 9.86 FGFR3 FGFR2 FGFR1
17 embryonic limb morphogenesis GO:0030326 9.86 TWIST1 MSX2 FGFR1 FGF9
18 bone development GO:0060348 9.85 TWIST1 FGFR2 FGF8
19 positive regulation of protein kinase B signaling GO:0051897 9.85 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF10
20 positive regulation of cell division GO:0051781 9.84 FGFR2 FGF9 FGF8
21 chondrocyte differentiation GO:0002062 9.83 FGFR3 FGFR1 FGF9
22 positive regulation of cardiac muscle cell proliferation GO:0060045 9.82 FGFR2 FGFR1 FGF9
23 bone morphogenesis GO:0060349 9.81 MSX2 FGFR3 FGFR2
24 lung development GO:0030324 9.8 FGFR2 FGFR1 FGF9 FGF8 FGF10
25 MAPK cascade GO:0000165 9.8 FGFR3 FGFR2 FGFR1 FGF9 FGF8 FGF13
26 embryonic hindlimb morphogenesis GO:0035116 9.78 TWIST1 MSX2 FGF8
27 embryonic pattern specification GO:0009880 9.77 FGFR2 FGF10 EFNB1
28 outflow tract septum morphogenesis GO:0003148 9.77 MSX2 FGFR2 FGF8
29 positive regulation of mesenchymal cell proliferation GO:0002053 9.76 FGFR2 FGFR1 FGF9
30 odontogenesis GO:0042476 9.76 TWIST1 MSX2 FGFR2 FGF8
31 hair follicle morphogenesis GO:0031069 9.74 FGFR2 FGF10
32 limb morphogenesis GO:0035108 9.74 FGF8 FGF10
33 thyroid gland development GO:0030878 9.74 FGF8 FGF10
34 organ induction GO:0001759 9.74 FGFR1 FGF8 FGF10
35 regulation of smoothened signaling pathway GO:0008589 9.73 FGFR2 FGF10
36 lung morphogenesis GO:0060425 9.73 FGF8 FGF10
37 signal transduction involved in regulation of gene expression GO:0023019 9.73 MSX2 FGF8
38 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.73 FGF9 FGF10
39 embryonic digestive tract development GO:0048566 9.72 FGF9 FGF10
40 embryonic digestive tract morphogenesis GO:0048557 9.72 FGFR2 FGF10
41 lung-associated mesenchyme development GO:0060484 9.72 FGFR2 FGFR1 FGF9
42 generation of neurons GO:0048699 9.71 FGFR1 FGF8
43 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.71 MSX2 FGF8
44 mesonephros development GO:0001823 9.71 FGF8 FGF10
45 organ growth GO:0035265 9.71 FGFR2 FGF10
46 positive regulation of phospholipase activity GO:0010518 9.71 FGFR3 FGFR2 FGFR1
47 limb bud formation GO:0060174 9.7 FGFR2 FGF10
48 mesenchymal cell differentiation GO:0048762 9.7 FGFR2 FGFR1
49 salivary gland morphogenesis GO:0007435 9.7 FGFR1 FGF10
50 endochondral bone growth GO:0003416 9.7 MSX2 FGFR3 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.62 FGFR2 FGFR1 FGF9 FGF10
2 protein tyrosine kinase activity GO:0004713 9.58 FGFR3 FGFR2 FGFR1
3 growth factor activity GO:0008083 9.56 FGF9 FGF8 FGF13 FGF10
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 FGFR3 FGFR2 FGFR1
5 fibroblast growth factor receptor binding GO:0005104 9.33 FGF9 FGF8 FGF10
6 fibroblast growth factor binding GO:0017134 9.13 FGFR3 FGFR2 FGFR1
7 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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