CFNS
MCID: CRN005
MIFTS: 56

Craniofrontonasal Syndrome (CFNS)

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

Aliases & Classifications for Craniofrontonasal Syndrome

MalaCards integrated aliases for Craniofrontonasal Syndrome:

Name: Craniofrontonasal Syndrome 56 12 52 58 73 36 15
Craniofrontonasal Dysplasia 56 12 74 52 58 73 29 13 6 43 71
Cfns 56 52 58 73
Cfnd 56 52 58 73
Craniofrontonasal Dysostosis 56 52 73
Craniofrontonasal Dysplasia; Cfnd 56
Dysplasia, Craniofrontonasal 39

Characteristics:

Orphanet epidemiological data:

58
craniofrontonasal dysplasia
Inheritance: X-linked dominant; Age of onset: Neonatal;

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
primarily diagnosed in females
expression more severe in females than males, except for mosaic males
possible genetic heterogeneity (linkage to xp22 in some families)


HPO:

31
craniofrontonasal syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Craniofrontonasal Syndrome

NIH Rare Diseases : 52 Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism ), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing ), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus ). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis ); and/or abnormal lateral curvature of the spine (scoliosis ). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity ) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome ). Females affected with this condition generally have more symptoms than affected males. Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.

MalaCards based summary : Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to widow's peak and craniofrontonasal dysplasia-poland anomaly syndrome, and has symptoms including grooving of nail An important gene associated with Craniofrontonasal Syndrome is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Developmental Biology and Akt Signaling. Affiliated tissues include bone, breast and eye, and related phenotypes are hypertelorism and frontal bossing

Disease Ontology : 12 A X-linked dominant disease that has material basis in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.

OMIM : 56 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). (304110)

KEGG : 36 Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.

UniProtKB/Swiss-Prot : 73 Craniofrontonasal syndrome: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.

Wikipedia : 74 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Related Diseases for Craniofrontonasal Syndrome

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 widow's peak 29.7 ZSWIM6 ALX3
2 craniofrontonasal dysplasia-poland anomaly syndrome 12.3
3 craniofrontonasal syndrome teebi type 12.2
4 frontonasal dysplasia 1 11.6
5 frontonasal dysplasia 2 11.5
6 hypertelorism 10.5
7 craniosynostosis 10.5
8 cleft lip 10.3
9 diaphragmatic hernia, congenital 10.3
10 synostosis 10.3
11 cleft lip/palate 10.3
12 chromosome 2q35 duplication syndrome 10.2
13 telecanthus 10.2
14 strabismus 10.2
15 mechanical strabismus 10.2
16 plagiocephaly 10.2
17 branchiootic syndrome 1 10.2
18 polydactyly 10.2
19 sensorineural hearing loss 10.2
20 cognitive impairment with or without cerebellar ataxia 10.2
21 pre-eclampsia 10.2
22 eclampsia 10.2
23 carcinosarcoma 10.2
24 frem1 autosomal recessive disorders 10.1
25 bifid nose 10.1
26 pectus carinatum 10.1
27 mental retardation, fra12a type 10.1
28 syringomyelia, noncommunicating isolated 10.1
29 chondrodysplasia punctata 2, x-linked dominant 10.1
30 aarskog-scott syndrome 10.1
31 ptosis 10.1
32 suppression amblyopia 10.1
33 amblyopia 10.1
34 alternating exotropia 10.1
35 exotropia 10.1
36 anisometropia 10.1
37 syringomyelia 10.1
38 chiari malformation 10.1
39 hypotonia 10.1
40 cleft palate, isolated 10.0
41 hypertelorism, teebi type 10.0
42 wolff-parkinson-white syndrome 10.0
43 corpus callosum, agenesis of 10.0
44 alacrima, achalasia, and mental retardation syndrome 10.0
45 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
46 umbilical hernia 10.0
47 monocular esotropia 10.0
48 hypospadias 10.0
49 heart septal defect 10.0
50 atrial heart septal defect 10.0

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



Diseases related to Craniofrontonasal Syndrome

Symptoms & Phenotypes for Craniofrontonasal Syndrome

Human phenotypes related to Craniofrontonasal Syndrome:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
7 ridged fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0008402
8 midline defect of the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0004122
9 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
10 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
11 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
12 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
13 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
14 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
17 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
18 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
19 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
20 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
21 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
22 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
23 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
24 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
25 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
26 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
27 hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001161
28 down-sloping shoulders 58 31 frequent (33%) Frequent (79-30%) HP:0200021
29 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
30 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
31 woolly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002224
32 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
33 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
34 congenital pseudoarthrosis of the clavicle 58 31 frequent (33%) Frequent (79-30%) HP:0006585
35 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
36 aplasia/hypoplasia of the nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0006709
37 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
38 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
39 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
40 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
41 short neck 31 HP:0000470
42 agenesis of corpus callosum 31 HP:0001274
43 nystagmus 31 HP:0000639
44 global developmental delay 31 HP:0001263
45 umbilical hernia 31 HP:0001537
46 short stature 31 HP:0004322
47 cryptorchidism 31 HP:0000028
48 cleft palate 31 HP:0000175
49 generalized hypotonia 31 HP:0001290
50 joint laxity 31 HP:0001388

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline
widow's peak
thick, wiry hair (females and mosaic males)

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum

Skeletal Feet:
syndactyly
broad halluces

Skin Nails Hair Skin:
axillary pterygia

Neurologic Central Nervous System:
developmental delay
hypotonia
normal intelligence
hypoplasia or agenesis of corpus callosum

Skin Nails Hair Nails:
brittle nails
grooved nails
longitudinal splitting

Growth Height:
short stature (males)

Head And Neck Teeth:
dental anomalies (mosaic males)

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity (females and mosaic males)
pectus excavatum (males)
clavicle pseudoarthrosis (males)

Skeletal Hands:
syndactyly (females and mosaic males)
brachydactyly (males)
fifth finger clinodactyly (females and mosaic males)

Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Limbs:
joint laxity
asymmetric lower limb shortness

Head And Neck Face:
facial asymmetry
widow's peak
frontal bossing (females and mosaic males)

Head And Neck Nose:
bifid nasal tip
hypoplastic nasal tip
broad nasal root

Chest Breasts:
unilateral breast hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (males and females)
telecanthus (females)
exotropia (females)
nystagmus (females)
more
Chest Diaphragm:
diaphragmatic hernia

Head And Neck Head:
brachycephaly (females and mosaic males)

Chest External Features:
narrow sloping shoulders

Skeletal Skull:
coronal craniosynostosis (females and mosaic males)
increased interorbital distance (males)

Clinical features from OMIM:

304110

UMLS symptoms related to Craniofrontonasal Syndrome:


grooving of nail

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.55 EPHA6
2 Decreased viability GR00221-A-1 10.55 EPHA4 EPHB1 EPHA1 EPHB3
3 Decreased viability GR00221-A-2 10.55 EPHA4 EPHA6 EPHB1 EPHB2
4 Decreased viability GR00221-A-3 10.55 EPHA4 EPHB2
5 Decreased viability GR00221-A-4 10.55 EPHA4 EPHA6 EPHB3 EPHB6
6 Decreased viability GR00231-A 10.55 EPHA4
7 Decreased viability GR00301-A 10.55 EPHA6 EPHA1
8 Decreased viability GR00342-S-1 10.55 EPHA6 EPHB1 EPHB2 EPHB3
9 Decreased viability GR00342-S-2 10.55 EPHB1
10 Decreased viability GR00342-S-3 10.55 EPHB1
11 Decreased viability GR00381-A-1 10.55 EPHA6
12 Decreased viability GR00402-S-2 10.55 EPHA4 EPHB1 EPHB2 EPHA1 EPHB3 EPHB6
13 Decreased cell migration GR00055-A-1 9.56 EPHA6 EPHB2 EPHB3 EPHB6
14 Decreased substrate adherent cell growth GR00193-A-2 9.33 EPHA1 EPHB1 EPHB2
15 Increased transferrin (TF) endocytosis GR00363-A 9.32 ALX3 EDA EFNB1 EPHA1 EPHA4 EPHA6

MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 ALX3 EFNA4 EFNB2 EPHA10 EPHA4 EPHA6
2 reproductive system MP:0005389 9.65 ALX3 EFNB1 EFNB2 EPHA1 EPHA4 EPHA6
3 vision/eye MP:0005391 9.23 ALX3 EFNA4 EFNB1 EFNB2 EPHB1 EPHB2

Drugs & Therapeutics for Craniofrontonasal Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
2 Multi-center, Prospective, Controlled, Clinical Trial of Wireless CranioFacial Nerve Stimulation (CFNS) for the Treatment of CranioFacial Neuropathic Pain Recruiting NCT02729480

Search NIH Clinical Center for Craniofrontonasal Syndrome

Cochrane evidence based reviews: craniofrontonasal dysplasia

Genetic Tests for Craniofrontonasal Syndrome

Genetic tests related to Craniofrontonasal Syndrome:

# Genetic test Affiliating Genes
1 Craniofrontonasal Dysplasia 29 EFNB1

Anatomical Context for Craniofrontonasal Syndrome

MalaCards organs/tissues related to Craniofrontonasal Syndrome:

40
Bone, Breast, Eye, Heart, Skin, Bone Marrow, Uterus

Publications for Craniofrontonasal Syndrome

Articles related to Craniofrontonasal Syndrome:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. 61 56 6
23335590 2013
2
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. 61 56 6
15124102 2004
3
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 61 56 6
15166289 2004
4
Craniofrontonasal dysplasia. 61 56 6
1468459 1992
5
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? 56 6
6627724 1983
6
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 61 56
20734337 2010
7
Additional EFNB1 mutations in craniofrontonasal syndrome. 61 56
18627045 2008
8
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. 61 56
18043713 2008
9
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 61 56
17941886 2007
10
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 61 56
16639408 2006
11
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. 61 6
16685650 2006
12
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). 61 56
15959873 2005
13
Craniofrontonasal syndrome and diaphragmatic hernia. 61 56
12116215 2002
14
Mapping of a further locus for X-linked craniofrontonasal syndrome. 61 56
12900576 2002
15
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. 61 56
9302274 1997
16
Craniofrontonasal syndrome: study of 41 patients. 61 56
8669441 1996
17
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. 61 56
8775424 1995
18
Craniofrontonasal dysostosis: variable expression in a three-generation family. 61 56
2289316 1990
19
Craniofrontonasal dysostosis with deafness and axillary pterygia. 61 56
2688423 1989
20
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. 61 56
3283635 1988
21
Craniofrontonasal dysplasia. 61 56
3346887 1988
22
Delineation of the male phenotype in carniofrontonasal syndrome. 61 56
3631134 1987
23
Craniofrontonasal dysplasia. 61 56
3585934 1987
24
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. 61 56
3742859 1986
25
Craniofrontonasal dysplasia: clinical and genetic analysis. 61 56
3742856 1986
26
Craniofrontonasal dysplasia--a distinct entity with lethality in the male? 61 56
6723109 1984
27
Craniofrontonasal dysplasia in a three-generation kindred. 61 56
7166597 1982
28
A pedigree possible evidence for the metabolic interference hypothesis. 56
7294029 1981
29
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 56
6770678 1980
30
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
31
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
32
Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding? 61
31188966 2019
33
[A case of craniofrontonasal syndrome]. 61
31060132 2019
34
Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1. 61
30976278 2019
35
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate. 61
28140668 2018
36
Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. 61
28135115 2018
37
microRNAs associated with early neural crest development in Xenopus laevis. 61
29347911 2018
38
Surgical approach of hypertelorbitism in craniofrontonasal dysplasia. 61
29019542 2017
39
Surgical Strategies for Soft Tissue Management in Hypertelorbitism. 61
27740959 2017
40
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. 61
28350678 2017
41
EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells. 61
28238796 2017
42
Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation. 61
27810913 2016
43
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis. 61
27650623 2016
44
Genetic Syndromes Associated with Craniosynostosis. 61
27226847 2016
45
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype. 61
27194971 2016
46
Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1. 61
26208246 2016
47
Depression and hyperactivity in two patients with craniofrontonasal syndrome. 61
26586496 2016
48
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. 61
26180728 2015
49
Report of a family with craniofrontonasal syndrome. 61
25486017 2015
50
Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation. 61
24919122 2015

Variations for Craniofrontonasal Syndrome

ClinVar genetic disease variations for Craniofrontonasal Syndrome:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EFNB1 EFNB1, EX2-5DELdeletion Pathogenic 11706
2 EFNB1 NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile)SNV Pathogenic 11707 rs104894796 X:68058663-68058663 X:68838820-68838820
3 EFNB1 NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu)SNV Pathogenic 11708 rs104894801 X:68058492-68058492 X:68838649-68838649
4 EFNB1 NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser)SNV Pathogenic 11709 rs28936069 X:68059551-68059551 X:68839708-68839708
5 EFNB1 NM_004429.4(EFNB1):c.452G>T (p.Gly151Val)SNV Pathogenic 11710 rs28936070 X:68059552-68059552 X:68839709-68839709
6 EFNB1 NM_004429.4(EFNB1):c.472A>G (p.Met158Val)SNV Pathogenic 11711 rs28936071 X:68059572-68059572 X:68839729-68839729
7 EFNB1 NM_004429.4(EFNB1):c.474G>T (p.Met158Ile)SNV Pathogenic 11712 rs28935170 X:68059574-68059574 X:68839731-68839731
8 EFNB1 NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly)SNV Pathogenic 11713 rs104894802 X:68049728-68049728 X:68829885-68829885
9 EFNB1 NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter)SNV Pathogenic 11714 rs104894803 X:68049729-68049729 X:68829886-68829886
10 EFNB1 NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter)SNV Pathogenic 11715 rs104894804 X:68058527-68058527 X:68838684-68838684
11 EFNB1 NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter)SNV Pathogenic 100627 rs587777109 X:68059596-68059596 X:68839753-68839753
12 EFNB1 NC_000023.10:g.(68059108_68059111)_(68067499_68067502)deldeletion Pathogenic 100628 X:68059108-68067502 X:68839265-68847659
13 EFNB1 NM_004429.4(EFNB1):c.561del (p.Asn187fs)deletion Pathogenic 374806 rs1057519035 X:68059864-68059864 X:68840021-68840021
14 EFNB1 NM_004429.4(EFNB1):c.128+2T>ASNV Pathogenic 435026 rs1556096780 X:68049749-68049749 X:68829906-68829906
15 EFNB1 NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs)short repeat Pathogenic 435028 rs1556107925 X:68059863-68059864 X:68840020-68840021
16 EFNB1 NM_004429.4(EFNB1):c.499+1G>ASNV Likely pathogenic 559938 rs1556107481 X:68059600-68059600 X:68839757-68839757
17 EFNB1 NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser)SNV Likely pathogenic 435027 rs1556105849 X:68058462-68058462 X:68838619-68838619
18 EFNB1 NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter)SNV Likely pathogenic 435029 rs1556107856 X:68059826-68059826 X:68839983-68839983
19 EFNB1 NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu)SNV Likely pathogenic 374804 rs1057519033 X:68059507-68059507 X:68839664-68839664
20 EFNB1 NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys)SNV Likely pathogenic 374805 rs1057519034 X:68059566-68059566 X:68839723-68839723
21 EFNB1 NM_004429.4(EFNB1):c.499+2_499+7deldeletion Likely pathogenic 691566 X:68059600-68059605 X:68839757-68839762
22 EFNB1 NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser)SNV Uncertain significance 634590 rs1569398326 X:68060205-68060205 X:68840362-68840362
23 EFNB1 NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro)SNV Uncertain significance 374803 rs1057519032 X:68058602-68058602 X:68838759-68838759
24 EFNB1 NM_004429.4(EFNB1):c.566T>C (p.Val189Ala)SNV Benign 374807 rs16989105 X:68059869-68059869 X:68840026-68840026

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

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 EFNB1 p.Pro27Arg VAR_023127
2 EFNB1 p.Pro54Leu VAR_023128 rs104894801
3 EFNB1 p.Ile62Thr VAR_023129
4 EFNB1 p.Leu98Ser VAR_023130
5 EFNB1 p.Thr111Ile VAR_023131 rs104894796
6 EFNB1 p.Gln115Pro VAR_023132
7 EFNB1 p.Pro119His VAR_023133
8 EFNB1 p.Pro119Ser VAR_023134
9 EFNB1 p.Pro119Thr VAR_023135
10 EFNB1 p.Thr137Ala VAR_023136
11 EFNB1 p.Ser138Phe VAR_023137
12 EFNB1 p.Gly151Ser VAR_023138 rs28936069
13 EFNB1 p.Gly151Val VAR_023139 rs28936070
14 EFNB1 p.Cys153Ser VAR_023140
15 EFNB1 p.Cys153Tyr VAR_023141
16 EFNB1 p.Thr155Pro VAR_023143
17 EFNB1 p.Met158Ile VAR_023144 rs28935170
18 EFNB1 p.Met158Val VAR_023145 rs28936071
19 EFNB1 p.Ser182Arg VAR_023146

Copy number variations for Craniofrontonasal Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 264427 X 65100000 67700000 Copy number EFNB1 Craniofrontonasal syndrome

Expression for Craniofrontonasal Syndrome

Search GEO for disease gene expression data for Craniofrontonasal Syndrome.

Pathways for Craniofrontonasal Syndrome

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
2
Show member pathways
13.21 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
3
Show member pathways
13.13 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
4
Show member pathways
13.07 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
5
Show member pathways
12.86 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
6
Show member pathways
12.81 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
7
Show member pathways
12.7 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
8
Show member pathways
12.25 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
9
Show member pathways
12.23 EPHA6 EPHA4 EPHA1 EFNA4
10
Show member pathways
12.19 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
11 11.97 EPHB6 EPHB2 EPHB1 EPHA4 EPHA1 EFNB2
12 11.91 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
13
Show member pathways
11.91 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
14
Show member pathways
11.86 EPHA6 EPHA4 EPHA10 EPHA1 EFNA4
15 11.8 EPHA4 EPHA1 EFNA4
16 11.71 EPHB2 EPHB1 EFNB2 EFNB1
17 11.53 EPHA6 EPHA4 EPHA1 EFNA4
18 11.1 EPHB2 EPHB1 EFNB2 EFNB1
19 10.89 EPHB6 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1

GO Terms for Craniofrontonasal Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.22 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
2 plasma membrane GO:0005886 10.1 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
3 dendrite GO:0030425 9.77 OPHN1 EPHB3 EPHB2 EPHB1 EPHA4
4 neuron projection GO:0043005 9.73 EPHA6 EPHA4 EPHA10 EPHA1
5 axon GO:0030424 9.71 OPHN1 EPHB2 EPHB1 EPHA4
6 integral component of plasma membrane GO:0005887 9.7 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
7 dendritic spine GO:0043197 9.63 OPHN1 EPHA4 EPHA1
8 glutamatergic synapse GO:0098978 9.55 OPHN1 EPHB2 EPHB1 EPHA4 EFNB2
9 integral component of presynaptic membrane GO:0099056 9.43 EPHB2 EPHA4 EFNB2
10 receptor complex GO:0043235 9.23 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.07 EPHB3 EPHB2 EPHA4 EFNB2 EFNB1 EDA
2 cell adhesion GO:0007155 10 EPHB1 EPHA4 EPHA1 EFNB2 EFNB1
3 phosphorylation GO:0016310 10 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4 EPHA10
4 protein phosphorylation GO:0006468 9.92 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
5 nervous system development GO:0007399 9.91 OPHN1 EPHB3 EPHB2 EPHB1 EPHA4 EFNB2
6 angiogenesis GO:0001525 9.88 EPHB3 EPHB2 EPHB1 EPHA1
7 peptidyl-tyrosine phosphorylation GO:0018108 9.86 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
8 protein autophosphorylation GO:0046777 9.84 EPHB3 EPHB1 EPHA4 EPHA1
9 regulation of GTPase activity GO:0043087 9.77 EPHB3 EPHA4 EPHA1
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.76 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
11 positive regulation of synapse assembly GO:0051965 9.74 EPHB3 EPHB2 EPHB1
12 ephrin receptor signaling pathway GO:0048013 9.7 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
13 regulation of axonogenesis GO:0050770 9.69 EPHB3 EPHB2 EPHA4
14 retinal ganglion cell axon guidance GO:0031290 9.67 EPHB3 EPHB2 EPHB1
15 dendritic spine morphogenesis GO:0060997 9.65 EPHB3 EPHB2 EPHB1
16 camera-type eye morphogenesis GO:0048593 9.62 EPHB2 EPHB1
17 axonal fasciculation GO:0007413 9.62 EPHB3 EPHB2
18 urogenital system development GO:0001655 9.61 EPHB3 EPHB2
19 dendritic spine development GO:0060996 9.61 EPHB3 EPHB2 EPHB1
20 regulation of postsynaptic neurotransmitter receptor internalization GO:0099149 9.6 OPHN1 EFNB2
21 corpus callosum development GO:0022038 9.58 EPHB3 EPHB2
22 central nervous system projection neuron axonogenesis GO:0021952 9.58 EPHB3 EPHB2 EPHB1
23 nephric duct morphogenesis GO:0072178 9.56 EPHA4 EFNB2
24 optic nerve morphogenesis GO:0021631 9.55 EPHB2 EPHB1
25 axon guidance GO:0007411 9.36 OPHN1 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.08 PJA1 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
2 ATP binding GO:0005524 10.06 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
3 kinase activity GO:0016301 9.98 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4 EPHA10
4 protein kinase activity GO:0004672 9.92 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
5 protein tyrosine kinase activity GO:0004713 9.8 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4 EPHA10
6 transmembrane-ephrin receptor activity GO:0005005 9.7 EPHB2 EPHB1 EPHA6 EPHA4 EPHA10 EPHA1
7 ephrin receptor binding GO:0046875 9.67 EPHA4 EFNB2 EFNB1 EFNA4
8 axon guidance receptor activity GO:0008046 9.58 EPHB3 EPHB2 EPHB1
9 ephrin receptor activity GO:0005003 9.56 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4
10 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.23 EPHB6 EPHB3 EPHB2 EPHB1 EPHA6 EPHA4

Sources for Craniofrontonasal 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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