CFND
MCID: CRN005
MIFTS: 46

Craniofrontonasal Syndrome (CFND) malady

Neuronal, Bone, Fetal categories

Summaries for Craniofrontonasal Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:43 Craniofrontonasal dysplasia is a rare genetic condition caused by a change (mutation) in the efnb1 gene.  main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, and/or crossed eyes (strabismus).  individuals with craniofrontonasal dysplasia have normal intelligence.  women affected with this condition generally have more symptoms than affected men.   treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition. last updated: 9/29/2011

MalaCards: Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to n syndrome and brachycephalofrontonasal dysplasia, and has symptoms including craniostenosis/craniosynostosis/sutural synostosis, brachycephaly/flat occiput and frontal bossing/prominent forehead. An important gene associated with Craniofrontonasal Syndrome is EFNB1 (ephrin-B1), and among its related pathways are EphrinA-EphR Signaling and EPHA forward signaling. The compound tyrosine have been mentioned in the context of this disorder. Related mouse phenotypes are reproductive system and craniofacial.

Wikipedia:64 Craniofrontonasal dysplasia (Craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Description from OMIM:47 304110

Aliases & Classifications for Craniofrontonasal Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 10DISEASES, 49Orphanet, 9diseasecard, 22GTR, 47OMIM, 61UMLS, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Bone


Characteristics (Orphanet epidemiological data):

49
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

craniofrontonasal syndrome 8 43 20 10 49
craniofrontonasal dysplasia 8 9 43 22 47 49 61
cfns 43 49
cfnd 43 49
craniofrontonasal dysostosis 43


External Ids:

Disease Ontology8 DOID:14737
OMIM47 304110
MeSH35 C536456
MESH via Orphanet36 C536456
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet62 C0220767

Related Diseases for Craniofrontonasal Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Craniofrontonasal Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.3
2brachycephalofrontonasal dysplasia10.3
3congenital diaphragmatic hernia10.2
4craniofrontonasal syndrome teebi type10.2
5webster deming syndrome10.1
6frontonasal dysplasia10.1
7frontonasal dysplasia 210.1
8young syndrome10.1
9frontonasal dysplasia 110.1
10stomach cancer10.0EPHB2
11craniosynostosis10.0EFNB1

Graphical network of diseases related to Craniofrontonasal Syndrome:



Diseases related to craniofrontonasal syndrome

Clinical Features for Craniofrontonasal Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

304110

Clinical synopsis from OMIM:

304110

Symptoms:

49 (show all 42)
  • craniostenosis/craniosynostosis/sutural synostosis
  • brachycephaly/flat occiput
  • frontal bossing/prominent forehead
  • hypertelorism
  • broad nose/nasal bridge
  • flattened nose
  • bifid tip/cleft nose/supernumerary nose
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • microcephaly
  • plagiocephaly
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • cleft lip and palate
  • high vaulted/narrow palate
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • sensorineural deafness/hearing loss
  • excess nuchal skin without pterygium colli
  • clavicle absent/abnormal
  • narrow/sloping shoulders
  • scoliosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • short hand/brachydactyly
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • broad/bifid big toe
  • wide space between 1st-2nd toes
  • abnormal hair texture/hair dysplasia
  • woolly/frizzy hair
  • low hair line (back)
  • high hair line (front)/widow peak
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • hyperextensible joints/articular hyperlaxity
  • hypoplastic/absent nipples
  • pectus excavatum
  • diaphragmatic hernia/defect/agenesis
  • hypospadias/epispadias/bent penis
  • shawl scrotum
  • corpus callosum/septum pellucidum total/partial agenesis

Drugs & Therapeutics for Craniofrontonasal Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Craniofrontonasal Syndrome

Drug clinical trials:

Search ClinicalTrials for Craniofrontonasal Syndrome

Search NIH Clinical Center for Craniofrontonasal Syndrome

Search CenterWatch for Craniofrontonasal Syndrome

Genetic Tests for Craniofrontonasal Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Craniofrontonasal Syndrome:

id Genetic test Affiliating Genes
1 Craniofrontonasal Syndrome20 EFNB1
2 Craniofrontonasal Dysplasia22

Anatomical Context for Craniofrontonasal Syndrome

Animal Models for Craniofrontonasal Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.7EPHB2, EDA
2MP:00053828.6EPHB2, EFNB1, EFNB2, EDA
3MP:00036317.3EPHB2, OPHN1, EDA, NCK2, EFNA2, EFNB2
4MP:00053787.2EDA, NCK2, EFNB2, EFNB1, EPHB2, EPHA1

Publications for Craniofrontonasal Syndrome

Sources:
51PubMed
See all sources

Articles related to Craniofrontonasal Syndrome:

(show all 27)
idTitleAuthorsYear
1
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. (23509643)
2013
2
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. (23335590)
2013
3
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. (24281372)
2013
4
Anomalous ovarian morphology in a patient with craniofrontonasal syndrome. (23550873)
2013
5
A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. (23845783)
2013
6
Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. (23614707)
2013
7
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl With Craniofrontonasal Syndrome. (21385071)
2012
8
Diverse clinical and genetic aspects of craniofrontonasal syndrome. (21215906)
2011
9
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. (20734337)
2010
10
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386322)
2008
11
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. (18043713)
2008
12
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386327)
2008
13
Additional EFNB1 mutations in craniofrontonasal syndrome. (18627045)
2008
14
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. (17300690)
2007
15
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. (17941886)
2007
16
A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. (16526919)
2006
17
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. (16685650)
2006
18
Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome. (16968134)
2006
19
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. (16639408)
2006
20
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). (15959873)
2005
21
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. (16143553)
2005
22
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. (15166289)
2004
23
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. (15124102)
2004
24
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. (12002152)
2002
25
Craniofrontonasal syndrome and diaphragmatic hernia. (12116215)
2002
26
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (9302274)
1997
27
Craniofrontonasal syndrome: study of 41 patients. (8669441)
1996

Genetic Variations for Craniofrontonasal Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Craniofrontonasal Syndrome:

63 (show all 19)
id Symbol AA change Variation SNP ID
1EFNB1p.Pro27ArgVAR_023127
2EFNB1p.Pro54LeuVAR_023128
3EFNB1p.Ile62ThrVAR_023129
4EFNB1p.Leu98SerVAR_023130
5EFNB1p.Thr111IleVAR_023131
6EFNB1p.Gln115ProVAR_023132
7EFNB1p.Pro119HisVAR_023133
8EFNB1p.Pro119SerVAR_023134
9EFNB1p.Pro119ThrVAR_023135
10EFNB1p.Thr137AlaVAR_023136
11EFNB1p.Ser138PheVAR_023137
12EFNB1p.Gly151SerVAR_023138rs28936069
13EFNB1p.Gly151ValVAR_023139rs28936070
14EFNB1p.Cys153SerVAR_023140
15EFNB1p.Cys153TyrVAR_023141
16EFNB1p.Thr155ProVAR_023143
17EFNB1p.Met158IleVAR_023144rs28935170
18EFNB1p.Met158ValVAR_023145rs28936071
19EFNB1p.Ser182ArgVAR_023146

Expression for genes affiliated with Craniofrontonasal Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Craniofrontonasal Syndrome

Search GEO for disease gene expression data for Craniofrontonasal Syndrome.

Pathways for genes affiliated with Craniofrontonasal Syndrome

Sources:
52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
See all sources

Pathways related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3EPHA1, EFNA2
29.3EPHA1, EFNA2
3
G-protein signaling RhoA regulation pathway
Hide members
9.3EPHA1, EFNA2
49.0EPHB2, EFNB1, EFNB2
5
Hide members
9.0NCK2, EPHB2, EPHA1
68.8NCK2, EFNA2, EPHA1
7
Cytoskeleton remodeling Reverse signaling by ephrin B
Hide members
8.5NCK2, EFNB2, EFNB1, EPHB2
88.5NCK2, EFNB2, EFNB1, EPHB2
9
Hide members
7.3NCK2, EFNA2, EFNB2, EFNB1, EPHB2, EPHA1
107.3NCK2, EFNA2, EFNB2, EFNB1, EPHB2, EPHA1
11
Cell adhesion Ephrins signaling
Hide members
7.3EPHA1, EPHB2, EFNB1, EFNB2, EFNA2, NCK2

Compounds for genes affiliated with Craniofrontonasal Syndrome

Sources:
45Novoseek
See all sources

Compounds related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine457.3EPHA1, EPHB2, EFNB1, EFNB2, EFNA2, NCK2

GO Terms for genes affiliated with Craniofrontonasal Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:0058878.0EPHA1, EPHB2, EFNB1, EFNB2, EDA

Biological processes related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine phosphorylationGO:0181089.5EPHA1, EPHB2
2positive regulation of T cell proliferationGO:0421029.4EFNB1, NCK2
3axon guidanceGO:0074119.0EPHB2, EFNB1, NCK2, OPHN1
4ephrin receptor signaling pathwayGO:0480138.9EPHB2, EFNB2, EFNA2
5nervous system developmentGO:0073998.9EPHB2, EFNB2, OPHN1
6cell-cell signalingGO:0072678.8EFNA2, EFNB2, EFNB1

Molecular functions related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane-ephrin receptor activityGO:0050059.5EPHA1, EPHB2
2ephrin receptor bindingGO:0468758.5EFNB1, EFNB2, EFNA2

Products for genes affiliated with Craniofrontonasal Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Craniofrontonasal Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet