CED
MCID: CRN323
MIFTS: 60

Cranioectodermal Dysplasia (CED)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Cranioectodermal Dysplasia

MalaCards integrated aliases for Cranioectodermal Dysplasia:

Name: Cranioectodermal Dysplasia 11 24 19 42 58 75 28 5 43 14 75
Sensenbrenner Syndrome 11 24 19 42 58
Levin Syndrome 1 19 5
Ced 42 58
Dysplasia, Cranioectodermal 38
Levin Syndrome 11

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare respiratory diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0050577
MeSH 43 C562966
ICD10 via Orphanet 32 Q87.5
UMLS via Orphanet 72 C0432235
Orphanet 58 ORPHA1515

Summaries for Cranioectodermal Dysplasia

MedlinePlus Genetics: 42 Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.

MalaCards based summary: Cranioectodermal Dysplasia, also known as sensenbrenner syndrome, is related to cranioectodermal dysplasia 1 and short-rib thoracic dysplasia 10 with or without polydactyly. An important gene associated with Cranioectodermal Dysplasia is IFT122 (Intraflagellar Transport 122), and among its related pathways/superpathways are Signal Transduction and Organelle biogenesis and maintenance. The drugs Radiopharmaceuticals and Technetium Tc 99m bicisate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and eye, and related phenotypes are frontal bossing and microdontia

GARD: 19 Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Orphanet: 58 Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

Disease Ontology: 11 A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.

Wikipedia: 75 Sensenbrenner syndrome (OMIM 218330) is a rare (less than 20 cases reported by 2010) multisystem... more...

GeneReviews: NBK154653

Related Diseases for Cranioectodermal Dysplasia

Diseases in the Cranioectodermal Dysplasia family:

Cranioectodermal Dysplasia 1 Cranioectodermal Dysplasia 2
Cranioectodermal Dysplasia 3 Cranioectodermal Dysplasia 4

Diseases related to Cranioectodermal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 315)
# Related Disease Score Top Affiliating Genes
1 cranioectodermal dysplasia 1 33.2 WDR35 WDR19 IFT140 IFT122
2 short-rib thoracic dysplasia 10 with or without polydactyly 32.0 IFT172 DYNC2H1
3 short-rib thoracic dysplasia 5 with or without polydactyly 32.0 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
4 short-rib thoracic dysplasia 8 with or without polydactyly 32.0 DYNLT2B DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
5 short-rib thoracic dysplasia 4 with or without polydactyly 31.9 WDR35 WDR19 TTC21B IFT140 IFT122 DYNLT2B
6 short-rib thoracic dysplasia 9 with or without polydactyly 31.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
7 short-rib thoracic dysplasia 12 31.4 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
8 short-rib thoracic dysplasia 3 with or without polydactyly 31.3 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
9 short-rib thoracic dysplasia 6 with or without polydactyly 31.2 WDR35 WDR19 TTC21B OFD1 NEK1 IFT80
10 craniosynostosis 31.2 WDR35 WDR19 IFT43 IFT122
11 brachydactyly 31.0 WDR35 WDR19 OFD1 IFT43 IFT122
12 tooth agenesis 30.8 WDR35 OFD1 IFT122 EVC2
13 short-rib thoracic dysplasia 7 with or without polydactyly 30.8 WDR35 WDR19 TTC21B IFT140 IFT122 DYNLT2B
14 retinal degeneration 30.6 TTC21B IFT88 IFT52 IFT43 IFT172 DYNC2I1
15 cystic kidney disease 30.6 WDR19 TTC21B OFD1 NEK1 KIF3A IFT88
16 short rib-polydactyly syndrome 30.5 WDR35 IFT52 IFT43 DYNC2H1
17 polydactyly 30.3 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
18 nephronophthisis 30.3 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
19 fundus dystrophy 30.2 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
20 chromosome 2q35 duplication syndrome 30.2 WDR35 WDR19 OFD1 NEK1 KIF3A IFT43
21 short-rib thoracic dysplasia 1 with or without polydactyly 30.1 WDR35 WDR19 TTC21B OFD1 NEK1 IFT80
22 visceral heterotaxy 30.1 WDR35 WDR19 TTC21B OFD1 KIF3A IFT88
23 retinitis pigmentosa 30.0 WDR35 WDR19 TTC21B OFD1 KIF3A IFT88
24 asphyxiating thoracic dystrophy 29.9 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
25 polycystic kidney disease 29.9 WDR19 TTC21B OFD1 NEK1 KIF3A IFT88
26 primary ciliary dyskinesia 29.8 WDR35 WDR19 TTC21B OFD1 KIF3A IFT88
27 ellis-van creveld syndrome 29.8 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
28 kleine-levin hibernation syndrome 11.9
29 cranioectodermal dysplasia 2 11.8
30 cranioectodermal dysplasia 4 11.7
31 cranioectodermal dysplasia 3 11.7
32 spondylocostal dysostosis 5 11.6
33 spondylocostal dysostosis 1, autosomal recessive 11.6
34 spondylocostal dysostosis 11.6
35 camurati-engelmann disease 11.5
36 zadik barak levin syndrome 11.5
37 spondylocostal dysostosis, autosomal recessive 11.3
38 gnathodiaphyseal dysplasia 11.3
39 ribbing disease 11.2
40 camurati-engelmann disease, type 2 11.1
41 spondylocostal dysostosis 3, autosomal recessive 11.0
42 short-rib thoracic dysplasia 2 with or without polydactyly 11.0
43 short-rib thoracic dysplasia 14 with polydactyly 11.0
44 short-rib thoracic dysplasia 15 with polydactyly 11.0
45 short-rib thoracic dysplasia 16 with or without polydactyly 11.0
46 short-rib thoracic dysplasia 17 with or without polydactyly 11.0
47 short-rib thoracic dysplasia 18 with polydactyly 11.0
48 short-rib thoracic dysplasia 19 with or without polydactyly 11.0
49 short-rib thoracic dysplasia 20 with polydactyly 11.0
50 idiopathic hypersomnia 10.9

Graphical network of the top 20 diseases related to Cranioectodermal Dysplasia:



Diseases related to Cranioectodermal Dysplasia

Symptoms & Phenotypes for Cranioectodermal Dysplasia

Human phenotypes related to Cranioectodermal Dysplasia:

58 30 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
2 microdontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000691
3 prominent occiput 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000269
4 osteoporosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000939
5 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000286
6 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
7 dolichocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000268
8 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
9 narrow chest 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000774
10 short distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009882
11 abnormal diaphysis morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000940
12 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
13 abnormal toenail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008388
14 rhizomelia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008905
15 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
16 anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0000463
17 everted lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000232
18 pectus excavatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000767
19 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
20 hypodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000668
21 craniosynostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001363
22 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006101
23 hypotelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000601
24 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
25 myopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000545
26 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
27 taurodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000679
28 high hypermetropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008499
29 abnormal dental enamel morphology 30 Occasional (7.5%) HP:0000682
30 abnormality of the dentition 58 Very frequent (99-80%)
31 abnormality of the metaphysis 58 Very frequent (99-80%)
32 abnormality of dental enamel 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Cranioectodermal Dysplasia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.44 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT122
2 growth/size/body region MP:0005378 10.41 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC2
3 limbs/digits/tail MP:0005371 10.39 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT122 IFT140
4 embryo MP:0005380 10.36 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122
5 homeostasis/metabolism MP:0005376 10.31 DYNC2LI1 EVC2 IFT122 IFT140 IFT172 IFT43
6 cellular MP:0005384 10.24 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 EVC2 IFT122
7 renal/urinary system MP:0005367 10.22 DYNC2H1 DYNC2I1 IFT140 IFT172 IFT80 IFT88
8 craniofacial MP:0005382 10.22 DYNC2H1 EVC2 IFT122 IFT140 IFT172 IFT43
9 cardiovascular system MP:0005385 10.2 CEP120 DYNC2H1 DYNC2I1 DYNC2LI1 EVC2 IFT122
10 digestive/alimentary MP:0005381 10.17 DYNC2H1 DYNC2I1 EVC2 IFT122 IFT140 IFT172
11 skeleton MP:0005390 9.97 CEP120 DYNC2H1 EVC2 IFT140 IFT172 IFT80
12 respiratory system MP:0005388 9.8 DYNC2H1 IFT140 IFT172 IFT88 KIF3A OFD1
13 vision/eye MP:0005391 9.65 DYNC2H1 DYNC2I2 IFT122 IFT140 IFT172 IFT80
14 mortality/aging MP:0010768 9.6 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC2

Drugs & Therapeutics for Cranioectodermal Dysplasia

Drugs for Cranioectodermal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Radiopharmaceuticals
2 Technetium Tc 99m bicisate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005 Unknown status NCT04184531
2 Microglial Activation in Narcolepsy Type 1 and Kleine-Levin Syndrome: Positron Emission Tomography (PET) Study in [18F] DPA-714 Unknown status NCT03754348
3 Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome Subjects Completed NCT02337023
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cranioectodermal Dysplasia

Cochrane evidence based reviews: cranioectodermal dysplasia

Genetic Tests for Cranioectodermal Dysplasia

Genetic tests related to Cranioectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 28

Anatomical Context for Cranioectodermal Dysplasia

Organs/tissues related to Cranioectodermal Dysplasia:

MalaCards : Bone, Skin, Eye, Kidney, Liver, Heart, Brain

Publications for Cranioectodermal Dysplasia

Articles related to Cranioectodermal Dysplasia:

(show top 50) (show all 620)
# Title Authors PMID Year
1
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. 62 24 5
28370949 2017
2
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 62 24 5
28332779 2017
3
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. 62 24 5
26792575 2016
4
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 62 24 5
25914204 2015
5
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 62 24 5
22486404 2013
6
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 62 24 5
20493458 2010
7
Connective tissue involvement in two patients with features of cranioectodermal dysplasia. 62 24 5
19760620 2009
8
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. 62 24 5
17022080 2006
9
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. 24 5
23826986 2014
10
A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report. 62 5
33717254 2021
11
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
12
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease. 62 24
32007091 2020
13
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. 62 24
29134781 2018
14
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies. 62 24
29174089 2018
15
Orthotopic liver transplantation for Sensenbrenner syndrome. 62 24
29076289 2018
16
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. 62 24
29121203 2018
17
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 62 24
28870638 2017
18
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 62 24
28288023 2017
19
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 62 24
28621010 2017
20
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 62 24
26880018 2016
21
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 62 24
27241786 2016
22
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 62 24
26691894 2016
23
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. 62 24
24689072 2014
24
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. 62 24
24123776 2013
25
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. 62 24
22987818 2012
26
Ciliary disorder of the skeleton. 62 24
22791528 2012
27
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 62 24
22019273 2011
28
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 62 24
21378380 2011
29
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 5
19648123 2011
30
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 62 24
20817137 2010
31
Cranioectodermal dysplasia: a probable ciliopathy. 62 24
19760621 2009
32
Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia. 62 24
16491415 2006
33
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
34
Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death. 62 24
11807876 2002
35
Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype. 62 24
11576410 2001
36
Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia. 62 24
9090669 1997
37
A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. 62 24
8695580 1996
38
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. 62 24
830894 1977
39
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
40
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
41
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane. 24
27401686 2017
42
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. 24
25908617 2015
43
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 24
23683095 2013
44
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 24
23559409 2013
45
Current insights into renal ciliopathies: what can genetics teach us? 24
22829176 2013
46
The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. 24
22689656 2012
47
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 24
22503633 2012
48
Architecture and function of IFT complex proteins in ciliogenesis. 24
22118932 2012
49
Complex interactions between genes controlling trafficking in primary cilia. 24
21552265 2011
50
Ciliopathies. 24
21506742 2011

Variations for Cranioectodermal Dysplasia

ClinVar genetic disease variations for Cranioectodermal Dysplasia:

5 (show top 50) (show all 317)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR19 NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) SNV Pathogenic
558759 rs771148519 GRCh37: 4:39226647-39226647
GRCh38: 4:39225027-39225027
2 IFT122 NM_052989.3(IFT122):c.273-281_273-271del DEL Pathogenic
1323102 GRCh37: 3:129179790-129179800
GRCh38: 3:129460947-129460957
3 IFT122 NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) DEL Pathogenic
1323103 GRCh37: 3:129237983-129237987
GRCh38: 3:129519140-129519144
4 IFT122 NM_052989.3(IFT122):c.3726A>G (p.Ter1242Trp) SNV Pathogenic
1329086 GRCh37: 3:129239108-129239108
GRCh38: 3:129520265-129520265
5 IFT122 NM_052989.3(IFT122):c.2668C>T (p.Arg890Ter) SNV Pathogenic
1368335 GRCh37: 3:129225269-129225269
GRCh38: 3:129506426-129506426
6 IFT122 NM_052989.3(IFT122):c.2375+2T>C SNV Pathogenic
191185 rs786205567 GRCh37: 3:129218913-129218913
GRCh38: 3:129500070-129500070
7 IFT122 NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) INDEL Pathogenic
983302 rs2083230922 GRCh37: 3:129233320-129233323
GRCh38: 3:129514477-129514480
8 IFT122 NC_000003.11:g.(?_129159174)_(129214470_?)del DEL Pathogenic
1456968 GRCh37: 3:129159174-129214470
GRCh38:
9 IFT122 NM_052989.3(IFT122):c.1432dup (p.Val478fs) DUP Pathogenic
1435502 GRCh37: 3:129198707-129198708
GRCh38: 3:129479864-129479865
10 IFT122 NM_052989.3(IFT122):c.2285del (p.Lys762fs) DEL Pathogenic
1179190 GRCh37: 3:129218820-129218820
GRCh38: 3:129499977-129499977
11 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup DUP Pathogenic
523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
12 IFT140 NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) SNV Pathogenic
523181 rs1417500285 GRCh37: 16:1612008-1612008
GRCh38: 16:1562007-1562007
13 IFT122 NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) SNV Pathogenic
4635 rs267607191 GRCh37: 3:129200389-129200389
GRCh38: 3:129481546-129481546
14 IFT122 NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) SNV Pathogenic
4638 rs267607193 GRCh37: 3:129159194-129159194
GRCh38: 3:129440351-129440351
15 IFT122 NM_052989.3(IFT122):c.955del (p.Glu319fs) DEL Pathogenic
65740 rs397515567 GRCh37: 3:129195293-129195293
GRCh38: 3:129476450-129476450
16 IFT122 NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) SNV Pathogenic
Uncertain Significance
65741 rs397515568 GRCh37: 3:129198760-129198760
GRCh38: 3:129479917-129479917
17 IFT122 NM_052989.3(IFT122):c.416+2T>G SNV Likely Pathogenic
1518574 GRCh37: 3:129182471-129182471
GRCh38: 3:129463628-129463628
18 WDR35 NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) SNV Likely Pathogenic
65619 rs199952377 GRCh37: 2:20141557-20141557
GRCh38: 2:19941796-19941796
19 IFT122 NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) SNV Likely Pathogenic
4636 rs267607192 GRCh37: 3:129195306-129195306
GRCh38: 3:129476463-129476463
20 IFT122 NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro) SNV Likely Pathogenic
1685352 GRCh37: 3:129200377-129200377
GRCh38: 3:129481534-129481534
21 IFT122 NM_052989.3(IFT122):c.2219del (p.Gly740fs) DEL Likely Pathogenic
1324570 GRCh37: 3:129218754-129218754
GRCh38: 3:129499911-129499911
22 IFT122 NM_052989.3(IFT122):c.272+1G>A SNV Likely Pathogenic
1179090 GRCh37: 3:129177521-129177521
GRCh38: 3:129458678-129458678
23 IFT122 NM_052989.3(IFT122):c.349+1G>A SNV Likely Pathogenic
581388 rs1559869525 GRCh37: 3:129180148-129180148
GRCh38: 3:129461305-129461305
24 IFT122 NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) SNV Likely Pathogenic
974392 rs372355939 GRCh37: 3:129200416-129200416
GRCh38: 3:129481573-129481573
25 IFT122 NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) SNV Likely Pathogenic
974393 rs2077955754 GRCh37: 3:129195237-129195237
GRCh38: 3:129476394-129476394
26 WDR19 NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) SNV Likely Pathogenic
266105 rs886039814 GRCh37: 4:39219680-39219680
GRCh38: 4:39218060-39218060
27 IFT122 NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) SNV Likely Pathogenic
982385 rs2074912574 GRCh37: 3:129170820-129170820
GRCh38: 3:129451977-129451977
28 IFT122 NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) SNV Conflicting Interpretations Of Pathogenicity
581786 rs138329739 GRCh37: 3:129185734-129185734
GRCh38: 3:129466891-129466891
29 IFT122 NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) SNV Conflicting Interpretations Of Pathogenicity
1369697 GRCh37: 3:129198644-129198644
GRCh38: 3:129479801-129479801
30 IFT122 NM_052989.3(IFT122):c.2577G>A (p.Glu859=) SNV Conflicting Interpretations Of Pathogenicity
343255 rs201077232 GRCh37: 3:129223191-129223191
GRCh38: 3:129504348-129504348
31 IFT122 NM_052989.3(IFT122):c.1758C>G (p.His586Gln) SNV Conflicting Interpretations Of Pathogenicity
343244 rs141889207 GRCh37: 3:129202432-129202432
GRCh38: 3:129483589-129483589
32 IFT122 NM_052989.3(IFT122):c.228C>T (p.Ser76=) SNV Conflicting Interpretations Of Pathogenicity
343232 rs772835552 GRCh37: 3:129177476-129177476
GRCh38: 3:129458633-129458633
33 IFT122 NM_052989.3(IFT122):c.2721G>A (p.Ala907=) SNV Conflicting Interpretations Of Pathogenicity
195781 rs371570973 GRCh37: 3:129225322-129225322
GRCh38: 3:129506479-129506479
34 IFT122 NM_052989.3(IFT122):c.1009-14C>T SNV Conflicting Interpretations Of Pathogenicity
343237 rs202155515 GRCh37: 3:129195492-129195492
GRCh38: 3:129476649-129476649
35 IFT122 NM_052989.3(IFT122):c.41+15G>T SNV Conflicting Interpretations Of Pathogenicity
291273 rs36222038 GRCh37: 3:129159229-129159229
GRCh38: 3:129440386-129440386
36 IFT122 NM_052989.3(IFT122):c.1553G>A (p.Arg518His) SNV Conflicting Interpretations Of Pathogenicity
343242 rs138223055 GRCh37: 3:129200437-129200437
GRCh38: 3:129481594-129481594
37 IFT122 NM_052989.3(IFT122):c.876C>T (p.Gly292=) SNV Conflicting Interpretations Of Pathogenicity
900218 rs768782991 GRCh37: 3:129195217-129195217
GRCh38: 3:129476374-129476374
38 IFT122 NM_052989.3(IFT122):c.2181C>T (p.Thr727=) SNV Conflicting Interpretations Of Pathogenicity
343251 rs545131069 GRCh37: 3:129214423-129214423
GRCh38: 3:129495580-129495580
39 IFT122 NM_052989.3(IFT122):c.1026C>T (p.Asp342=) SNV Conflicting Interpretations Of Pathogenicity
262266 rs79187669 GRCh37: 3:129195523-129195523
GRCh38: 3:129476680-129476680
40 IFT122 NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) SNV Uncertain Significance
835061 rs747428443 GRCh37: 3:129225384-129225384
GRCh38: 3:129506541-129506541
41 IFT122 NM_052989.3(IFT122):c.702_713dup (p.Pro235_Glu238dup) DUP Uncertain Significance
843793 rs2076877349 GRCh37: 3:129185862-129185863
GRCh38: 3:129467019-129467020
42 IFT122 NM_052989.3(IFT122):c.3677A>G (p.His1226Arg) SNV Uncertain Significance
854363 rs750154715 GRCh37: 3:129239059-129239059
GRCh38: 3:129520216-129520216
43 IFT122 NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn) SNV Uncertain Significance
857142 rs76007598 GRCh37: 3:129221561-129221561
GRCh38: 3:129502718-129502718
44 IFT122 NM_052989.3(IFT122):c.3586C>T (p.Arg1196Cys) SNV Uncertain Significance
1353527 GRCh37: 3:129238525-129238525
GRCh38: 3:129519682-129519682
45 IFT122 NM_052989.3(IFT122):c.273-346C>T SNV Uncertain Significance
1355382 GRCh37: 3:129179725-129179725
GRCh38: 3:129460882-129460882
46 IFT122 NM_052989.3(IFT122):c.1430A>G (p.Lys477Arg) SNV Uncertain Significance
1358006 GRCh37: 3:129198707-129198707
GRCh38: 3:129479864-129479864
47 IFT122 NM_052989.3(IFT122):c.3053C>G (p.Ala1018Gly) SNV Uncertain Significance
1358114 GRCh37: 3:129233297-129233297
GRCh38: 3:129514454-129514454
48 IFT122 NM_052989.3(IFT122):c.686A>C (p.Glu229Ala) SNV Uncertain Significance
1392411 GRCh37: 3:129185855-129185855
GRCh38: 3:129467012-129467012
49 IFT122 NM_052989.3(IFT122):c.2420C>T (p.Pro807Leu) SNV Uncertain Significance
1387335 GRCh37: 3:129221598-129221598
GRCh38: 3:129502755-129502755
50 IFT122 NM_052989.3(IFT122):c.1760G>A (p.Arg587Gln) SNV Uncertain Significance
1387338 GRCh37: 3:129202434-129202434
GRCh38: 3:129483591-129483591

Expression for Cranioectodermal Dysplasia

Search GEO for disease gene expression data for Cranioectodermal Dysplasia.

Pathways for Cranioectodermal Dysplasia

GO Terms for Cranioectodermal Dysplasia

Cellular components related to Cranioectodermal Dysplasia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.75 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
2 centrosome GO:0005813 10.52 CEP120 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B IFT140
3 cilium GO:0005929 10.4 WDR35 WDR19 TTC21B OFD1 KIF3A IFT88
4 ciliary basal body GO:0036064 10.37 WDR35 OFD1 IFT88 IFT80 IFT52 IFT172
5 centriole GO:0005814 10.36 CEP120 DYNC2I2 IFT140 IFT43 IFT52 IFT88
6 axoneme GO:0005930 10.31 WDR35 KIF3A IFT172 IFT140 DYNLT2B DYNC2LI1
7 motile cilium GO:0031514 10.3 DYNC2H1 DYNC2LI1 IFT52 IFT88 OFD1 WDR19
8 cytoskeleton GO:0005856 10.26 TTC21B OFD1 NEK1 KIF3A IFT88 IFT80
9 cytoplasmic dynein complex GO:0005868 10.19 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B
10 ciliary base GO:0097546 10.16 IFT88 IFT52 DYNLT2B DYNC2I1
11 photoreceptor connecting cilium GO:0032391 10.15 WDR19 IFT52 IFT140 IFT122
12 microtubule organizing center GO:0005815 10.13 WDR35 OFD1 NEK1 IFT88 IFT140 DYNC2LI1
13 ciliary tip GO:0097542 10.13 WDR35 WDR19 TTC21B KIF3A IFT88 IFT80
14 intraciliary transport particle B GO:0030992 10.11 IFT88 IFT80 IFT52 IFT172
15 intraciliary transport particle A GO:0030991 10.1 IFT122 IFT140 IFT43 TTC21B WDR19 WDR35
16 non-motile cilium GO:0097730 10.08 WDR19 IFT88 IFT140 IFT122
17 interphase microtubule organizing center GO:0031021 9.88 DYNLT2B DYNC2I1
18 ciliary plasm GO:0097014 9.87 DYNC2I1 DYNC2I2
19 cell projection GO:0042995 9.55 WDR35 WDR19 TTC21B OFD1 KIF3A IFT88

Biological processes related to Cranioectodermal Dysplasia according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10.4 WDR35 WDR19 TTC21B OFD1 NEK1 KIF3A
2 microtubule-based movement GO:0007018 10.18 DYNC2H1 DYNC2I1 DYNC2I2 DYNLT2B KIF3A
3 non-motile cilium assembly GO:1905515 10.17 DYNC2H1 IFT122 IFT140 IFT172 IFT52 IFT80
4 intraciliary transport GO:0042073 10.16 WDR35 IFT88 IFT52 IFT172 IFT140 IFT122
5 smoothened signaling pathway GO:0007224 10.14 EVC2 IFT172 IFT52 IFT80 TTC21B WDR19
6 regulation of cilium assembly GO:1902017 10.1 IFT88 IFT140 DYNLT2B DYNC2LI1
7 protein localization to cilium GO:0061512 10.07 WDR35 TTC21B IFT140 IFT122 DYNC2H1
8 determination of left/right symmetry GO:0007368 10.06 IFT52 IFT172 IFT140 DYNC2LI1 DYNC2H1
9 dorsal/ventral pattern formation GO:0009953 10.04 IFT52 IFT172 DYNC2H1
10 limb development GO:0060173 10.03 IFT80 IFT172 IFT122
11 intraciliary anterograde transport GO:0035720 10.03 IFT88 IFT80 IFT52 IFT172
12 keratinocyte proliferation GO:0043616 10.02 IFT80 IFT52 IFT172
13 negative regulation of keratinocyte proliferation GO:0010839 10.01 IFT172 IFT52 IFT80
14 regulation of smoothened signaling pathway GO:0008589 9.92 TTC21B IFT172 IFT140
15 embryonic camera-type eye development GO:0031076 9.88 WDR19 IFT140
16 regulation of intraciliary retrograde transport GO:1905799 9.81 TTC21B DYNLT2B
17 cell projection organization GO:0030030 9.77 DYNC2H1 DYNC2I1 DYNC2LI1 IFT122 IFT140 IFT43
18 neural tube formation GO:0001841 9.75 IFT52 IFT172
19 intraciliary retrograde transport GO:0035721 9.66 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYNLT2B IFT122

Molecular functions related to Cranioectodermal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 9.26 DYNC2I2 DYNC2I1
2 dynein heavy chain binding GO:0045504 9.1 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Cranioectodermal Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....