eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| muenke syndrome | ||||
| Disease ID | 967 |
|---|---|
| Disease | muenke syndrome |
| Definition | A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes. |
| Synonym | fgfr3-associated coronal synostosis fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis fibroblast growth factor receptor 3-related craniosynostosis fibroblast growth factor receptor 3-related craniosynostosis (disorder) mnkes muenke nonsyndromic coronal craniosynostosis syndrome of coronal craniosynostosis |
| Orphanet | |
| OMIM | |
| UMLS | C1864436 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 57492 | ARID1B | 6.036 | DISEASES 2131 | EXT1 | 2.011 | DISEASES 2246 | FGF1 | 1.611 | DISEASES 2258 | FGF13 | 2.431 | DISEASES 2253 | FGF8 | 2.085 | DISEASES 2254 | FGF9 | 3.502 | DISEASES 2260 | FGFR1 | 3.862 | DISEASES 2263 | FGFR2 | 4.282 | DISEASES 2261 | FGFR3 | 6.257 | DISEASES 4140 | MARK3 | 2.432 | DISEASES 5727 | PTCH1 | 1.204 | DISEASES 51715 | RAB23 | 3.059 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) FGFR3 | 4p16.3 |
| Disease ID | 967 |
|---|---|
| Disease | muenke syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0002705 | High, narrow palate HP:0001263 | Global developmental delay HP:0001357 | Plagiocephaly HP:0000520 | Proptosis HP:0009702 | Carpal synostosis HP:0008368 | Tarsal synostosis HP:0000256 | Macrocephaly HP:0001053 | Hypopigmented skin patches HP:0005599 | Hypopigmentation of hair HP:0000316 | Hypertelorism HP:0001034 | Hypermelanotic macule HP:0000248 | Brachycephaly HP:0002516 | Increased intracranial pressure HP:0010579 | Cone-shaped epiphysis HP:0000272 | Malar flattening HP:0004279 | Short palm HP:0000407 | Sensorineural hearing impairment HP:0000238 | Hydrocephalus HP:0004440 | Coronal craniosynostosis HP:0000508 | Ptosis HP:0001773 | Short foot |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 967 |
|---|---|
| Disease | muenke syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:19) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28931615 | 22038757 | 2261 | FGFR3 | umls:C1864436 | BeFree | The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. | 0.56434307 | 2011 | FGFR3 | 4 | 1804426 | C | A |
| rs4647924 | 14613973 | 2252 | FGF7 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.000271442 | 2004 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 18818193 | 2261 | FGFR3 | umls:C1864436 | BeFree | The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. | 0.56434307 | 2009 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 21403557 | 2261 | FGFR3 | umls:C1864436 | BeFree | The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. | 0.56434307 | 2011 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 22038757 | 2261 | FGFR3 | umls:C1864436 | BeFree | The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. | 0.56434307 | 2011 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 24168007 | 2261 | FGFR3 | umls:C1864436 | BeFree | A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature. | 0.56434307 | 2015 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 17103449 | 57492 | ARID1B | umls:C1864436 | BeFree | P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. | 0.000814326 | 2006 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 14613973 | 2261 | FGFR3 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.56434307 | 2004 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 11746040 | 2261 | FGFR3 | umls:C1864436 | UNIPROT | Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. | 0.56434307 | 2001 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 21233754 | 2261 | FGFR3 | umls:C1864436 | BeFree | Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). | 0.56434307 | 2011 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | NA | 2261 | FGFR3 | umls:C1864436 | CLINVAR | NA | 0.56434307 | NA | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 20592905 | 2261 | FGFR3 | umls:C1864436 | BeFree | Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. | 0.56434307 | 2010 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 17103449 | 2261 | FGFR3 | umls:C1864436 | BeFree | P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. | 0.56434307 | 2006 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 14613973 | 2255 | FGF10 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.000271442 | 2004 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 9600744 | 2261 | FGFR3 | umls:C1864436 | BeFree | Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. | 0.56434307 | 1998 | FGFR3 | 4 | 1801844 | C | G |
| rs4647924 | 21233754 | 57492 | ARID1B | umls:C1864436 | BeFree | Mutation analysis of FGFR-3 revealed a missense mutation in exon 6, c.749 C>G, with a resultant amino acid change from proline to arginine at codon 250 (P250R), in keeping with Muenke syndrome (Am J Hum Genet 1997;60:555-564). | 0.000814326 | 2011 | FGFR3 | 4 | 1801844 | C | G |
| rs77543610 | 14613973 | 2252 | FGF7 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.000271442 | 2004 | FGFR2 | 10 | 121520160 | G | C |
| rs77543610 | 14613973 | 2261 | FGFR3 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.56434307 | 2004 | FGFR2 | 10 | 121520160 | G | C |
| rs77543610 | 14613973 | 2255 | FGF10 | umls:C1864436 | BeFree | However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. | 0.000271442 | 2004 | FGFR2 | 10 | 121520160 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001773 | Short foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0008368 | Tarsal synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| HP:0009702 | Carpal synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0005599 | Hypopigmentation of hair | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005599 | Hypopigmentation of hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001053 | Hypopigmented skin patches | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001773 | Short foot | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010579 | Cone-shaped epiphysis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0004440 | Coronal craniosynostosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0008368 | Tarsal synostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001357 | Plagiocephaly | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0009702 | Carpal synostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004279 | Short palm | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0002705 | High, narrow palate | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| Disease ID | 967 |
|---|---|
| Disease | muenke syndrome |
| Case | (Waiting for update.) |