CED
MCID: CRN323
MIFTS: 58

Cranioectodermal Dysplasia (CED)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Cranioectodermal Dysplasia

MalaCards integrated aliases for Cranioectodermal Dysplasia:

Name: Cranioectodermal Dysplasia 12 73 25 20 43 58 36 29 6
Sensenbrenner Syndrome 12 25 20 43 58 15
Levin Syndrome 1 20 6
Ced 43 58
Dysplasia, Cranioectodermal 39
Levin Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
cranioectodermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

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 12 DOID:0050577
KEGG 36 H00529
ICD10 via Orphanet 33 Q87.5
UMLS via Orphanet 71 C0432235
Orphanet 58 ORPHA1515

Summaries for Cranioectodermal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1515 Definition 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). Epidemiology To date, 20 cases have been reported in the literature. Clinical description CED is primarily characterized by an abnormal development of bones (i.e. craniosynostosis /dolichocephaly, narrow thorax, pectus excavatum, rhizomelic micromelia, brachydactyly, syndactyly, clinodactyly, hyperextensible joints), and ectodermal defects such as dental anomalies (reduced enamel thickness, hypodontia, microdontia, taurodontism, malformations of the cusps), sparse hair, and abnormal finger and toe nails. Dysmorphic features are observed such as epicanthic folds, hypotelorism, anteverted nares, and everted lower lip. Patients frequently develop chronic renal failure due to nephronophthisis, usually between the ages of 2 and 6. Liver involvement (hepatic fibrosis) can also be observed. Recurrent lung infections, heart defects and ocular anomalies ( nystagmus, myopia, retinal dystrophy, and particularly retinitis pigmentosa) are also possible in the course of the disease. Etiology CED is a heterogenous condition belonging to the ciliopathy group of diseases and is due to mutations in the IFT122, IFT43, WDR19 and WDR35 genes involved in intraflagellar transport (IFT). This genetic background explains the pleiotropic phenotype of CED that includes manifestations of several ciliopathies. Diagnostic methods Diagnosis is based on clinical examination. Imagery ( ultrasonography ), laboratory findings (urine analysis, serum electrolytes, and lipid profile), histological examination and liver and renal function tests allow detection of potential renal and liver anomalies. Ocular anomalies can be detected by eye fundus and electroretinography. Differential diagnosis Differential diagnosis of CED includes Jeune syndrome (see this term) from which it can be distinguished by the presence of craniosynostosis, and skin and dental dysplasia. CED also overlaps with Ellis van Creveld syndrome (see this term) which also shows ectodermal defects and narrow thorax. Genetic counseling In most cases, transmission is autosomal recessive. Management and treatment In many cases, renal function rapidly deteriorates, requiring treatment of metabolic acidosis, oral sodium chloride supplementation, then dialysis or renal transplantation in case of end-stage renal failure. Prognosis Prognosis depends on renal, heart and lung defects which can be life threatening.

MalaCards based summary : Cranioectodermal Dysplasia, also known as sensenbrenner syndrome, is related to cranioectodermal dysplasia 2 and cranioectodermal dysplasia 1. An important gene associated with Cranioectodermal Dysplasia is WDR35 (WD Repeat Domain 35), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. The drugs Radiopharmaceuticals and Technetium Tc 99m bicisate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are frontal bossing and abnormality of the metaphysis

Disease Ontology : 12 A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies.

MedlinePlus Genetics : 43 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.

KEGG : 36 Cranioectodermal dysplasia (CED) is a rare disorder characterized by defects of ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypoodontia.

Wikipedia : 73 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 244)
# Related Disease Score Top Affiliating Genes
1 cranioectodermal dysplasia 2 33.2 WDR35 SPAG17 MATN3
2 cranioectodermal dysplasia 1 33.2 WDR35 WDR19 IFT140 IFT122
3 short-rib thoracic dysplasia 5 with or without polydactyly 32.0 WDR35 WDR19 IFT140 IFT122
4 short-rib thoracic dysplasia 2 with or without polydactyly 31.9 WDR19 TTC21B IFT80 DYNC2H1
5 short-rib thoracic dysplasia 4 with or without polydactyly 31.9 WDR35 WDR19 TTC21B IFT140 DYNC2I1
6 short-rib thoracic dysplasia 8 with or without polydactyly 31.9 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 short-rib thoracic dysplasia 9 with or without polydactyly 31.8 WDR35 WDR19 TTC21B IFT88 IFT43 IFT172
8 short-rib thoracic dysplasia 12 31.4 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
9 short-rib thoracic dysplasia 6 with or without polydactyly 31.3 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
10 ciliopathy 31.1 TTC21B IFT52 IFT140 DYNC2LI1
11 brachydactyly 30.9 WDR35 WDR19 IFT43 IFT122
12 short-rib thoracic dysplasia 7 with or without polydactyly 30.8 WDR35 WDR19 TTC21B MATN3 IFT140 DYNC2I1
13 short rib-polydactyly syndrome 30.5 WDR35 IFT52 IFT43 DYNC2H1
14 nephronophthisis 30.3 WDR35 WDR19 TTC21B NEK1 IFT88 IFT80
15 polydactyly 30.3 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
16 retinal degeneration 30.2 TTC21B IFT88 IFT52 IFT43 IFT172 IFT140
17 short-rib thoracic dysplasia 1 with or without polydactyly 30.1 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43
18 fundus dystrophy 30.1 WDR35 WDR19 TTC21B NEK1 IFT88 IFT80
19 short-rib thoracic dysplasia 3 with or without polydactyly 30.0 WDR35 WDR19 TTC21B NEK1 IFT80 IFT52
20 asphyxiating thoracic dystrophy 29.9 WDR35 WDR19 TTC21B NEK1 IFT88 IFT80
21 ellis-van creveld syndrome 29.9 WDR35 WDR19 TTC21B NEK1 IFT88 IFT80
22 retinitis pigmentosa 29.9 WDR35 WDR19 TTC21B IFT88 IFT80 IFT52
23 primary ciliary dyskinesia 29.8 WDR35 WDR19 TTC21B SPAG17 IFT88 IFT80
24 kleine-levin hibernation syndrome 11.9
25 cranioectodermal dysplasia 3 11.7
26 cranioectodermal dysplasia 4 11.7
27 spondylocostal dysostosis 1, autosomal recessive 11.6
28 spondylocostal dysostosis 3, autosomal recessive 11.6
29 spondylocostal dysostosis 5 11.6
30 camurati-engelmann disease 11.5
31 zadik barak levin syndrome 11.4
32 spondylocostal dysostosis, autosomal recessive 11.3
33 gnathodiaphyseal dysplasia 11.3
34 ribbing disease 11.1
35 camurati-engelmann disease, type 2 11.1
36 short-rib thoracic dysplasia 14 with polydactyly 10.9
37 short-rib thoracic dysplasia 15 with polydactyly 10.9
38 short-rib thoracic dysplasia 16 with or without polydactyly 10.9
39 short-rib thoracic dysplasia 17 with or without polydactyly 10.9
40 short-rib thoracic dysplasia 18 with polydactyly 10.9
41 short-rib thoracic dysplasia 19 with or without polydactyly 10.9
42 short-rib thoracic dysplasia 20 with polydactyly 10.9
43 hypersomnia 10.9
44 sleep disorder 10.6
45 dysostosis 10.5
46 spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type 10.4 MATN3 LOC101928222
47 recurrent hypersomnia 10.4
48 rare sleep disorder 10.4
49 craniosynostosis 10.4
50 multiple epiphyseal dysplasia 10.4 WDR35 MATN3 LOC101928222

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

MGI Mouse Phenotypes related to Cranioectodermal Dysplasia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 DYNC2H1 DYNC2I2 DYNC2LI1 IFT122 IFT140 IFT172
2 growth/size/body region MP:0005378 10.36 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140
3 cardiovascular system MP:0005385 10.34 DYNC2H1 DYNC2I1 DYNC2LI1 IFT122 IFT140 IFT172
4 embryo MP:0005380 10.3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140
5 mortality/aging MP:0010768 10.3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 IFT122 IFT140
6 limbs/digits/tail MP:0005371 10.25 DYNC2H1 DYNC2I2 DYNC2LI1 IFT122 IFT140 IFT172
7 craniofacial MP:0005382 10.24 DYNC2H1 IFT122 IFT140 IFT172 IFT43 IFT80
8 nervous system MP:0003631 10.17 DYNC2H1 DYNC2I2 DYNC2LI1 IFT122 IFT140 IFT172
9 digestive/alimentary MP:0005381 10.08 DYNC2H1 IFT122 IFT140 IFT172 IFT88 TGFB3
10 renal/urinary system MP:0005367 9.8 DYNC2H1 IFT140 IFT172 IFT80 IFT88 NEK1
11 respiratory system MP:0005388 9.7 DYNC2H1 IFT140 IFT172 IFT88 SPAG17 TGFB3
12 skeleton MP:0005390 9.7 DYNC2H1 IFT140 IFT172 IFT80 IFT88 MATN3
13 vision/eye MP:0005391 9.36 DYNC2H1 DYNC2I2 IFT122 IFT140 IFT172 IFT43

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 Brain Scintigraphy in Normal Versus Kleine-Levin Syndrome Subjects Completed NCT02337023
2 Microglial Activation in Narcolepsy Type 1 and Kleine-Levin Syndrome: Positron Emission Tomography (PET) Study in [18F] DPA-714 Recruiting NCT03754348
3 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
4 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 Not yet recruiting NCT04184531

Search NIH Clinical Center for Cranioectodermal Dysplasia

Genetic Tests for Cranioectodermal Dysplasia

Genetic tests related to Cranioectodermal Dysplasia:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 29

Anatomical Context for Cranioectodermal Dysplasia

MalaCards organs/tissues related to Cranioectodermal Dysplasia:

40
Liver, Kidney, Eye, Heart, Lung, Bone, Pancreas

Publications for Cranioectodermal Dysplasia

Articles related to Cranioectodermal Dysplasia:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature. 61 6 25
28870638 2017
2
Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122. 6 25 61
28370949 2017
3
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. 25 6 61
28332779 2017
4
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. 25 6 61
26792575 2016
5
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. 25 6 61
26691894 2016
6
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia. 61 25 6
25914204 2015
7
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. 25 61 6
24123776 2013
8
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). 6 25 61
22486404 2013
9
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. 61 6 25
22987818 2012
10
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6 61 25
22019273 2011
11
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 25 6 61
21378380 2011
12
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 61 25 6
20817137 2010
13
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 61 6 25
20493458 2010
14
Connective tissue involvement in two patients with features of cranioectodermal dysplasia. 61 6 25
19760620 2009
15
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. 25 6 61
17022080 2006
16
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. 6 25
25908617 2015
17
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. 6 25
23826986 2014
18
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 25 6
23683095 2013
19
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. 6 25
21473986 2011
20
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 6 61
29068549 2018
21
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
22
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease. 61 25
32007091 2020
23
Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. 25 61
29134781 2018
24
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. 25 61
29174089 2018
25
Orthotopic liver transplantation for Sensenbrenner syndrome. 25 61
29076289 2018
26
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies. 25 61
29121203 2018
27
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations. 61 25
28288023 2017
28
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports. 25 61
28621010 2017
29
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy. 25 61
26880018 2016
30
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. 25 61
27241786 2016
31
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. 25 61
24689072 2014
32
Ciliary disorder of the skeleton. 25 61
22791528 2012
33
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. 6
19648123 2011
34
Cranioectodermal dysplasia: a probable ciliopathy. 61 25
19760621 2009
35
Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia. 61 25
16491415 2006
36
Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death. 61 25
11807876 2002
37
Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype. 61 25
11576410 2001
38
Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia. 61 25
9090669 1997
39
A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. 25 61
8695580 1996
40
A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. 25 61
830894 1977
41
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
42
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
43
The Joubert Syndrome Protein Inpp5e Controls Ciliogenesis by Regulating Phosphoinositides at the Apical Membrane. 25
27401686 2017
44
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 25
23559409 2013
45
Current insights into renal ciliopathies: what can genetics teach us? 25
22829176 2013
46
The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. 25
22689656 2012
47
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. 25
22503633 2012
48
Architecture and function of IFT complex proteins in ciliogenesis. 25
22118932 2012
49
Complex interactions between genes controlling trafficking in primary cilia. 25
21552265 2011
50
Ciliopathies. 25
21506742 2011

Variations for Cranioectodermal Dysplasia

ClinVar genetic disease variations for Cranioectodermal Dysplasia:

6 (show top 50) (show all 512)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR35 NM_020779.4(WDR35):c.25-2A>G SNV Pathogenic 20 rs397515534 GRCh37: 2:20189045-20189045
GRCh38: 2:19989284-19989284
2 WDR35 NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly) SNV Pathogenic 21 rs267607174 GRCh37: 2:20145548-20145548
GRCh38: 2:19945787-19945787
3 WDR35 NM_020779.4(WDR35):c.2858del (p.Pro953fs) Deletion Pathogenic 22 rs397515334 GRCh37: 2:20131136-20131136
GRCh38: 2:19931375-19931375
4 WDR35 NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr) SNV Pathogenic 23 rs267607175 GRCh37: 2:20133230-20133230
GRCh38: 2:19933469-19933469
5 IFT122 NM_052989.3(IFT122):c.1505T>G (p.Val502Gly) SNV Pathogenic 4635 rs267607191 GRCh37: 3:129200389-129200389
GRCh38: 3:129481546-129481546
6 IFT122 NM_052989.3(IFT122):c.349+5G>A SNV Pathogenic 4637 rs376595844 GRCh37: 3:129180152-129180152
GRCh38: 3:129461309-129461309
7 IFT122 NM_052989.3(IFT122):c.21G>C (p.Trp7Cys) SNV Pathogenic 4638 rs267607193 GRCh37: 3:129159194-129159194
GRCh38: 3:129440351-129440351
8 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) SNV Pathogenic 30703 rs387906980 GRCh37: 4:39233563-39233563
GRCh38: 4:39231943-39231943
9 WDR19 NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter) SNV Pathogenic 30704 rs387906981 GRCh37: 4:39269660-39269660
GRCh38: 4:39268040-39268040
10 IFT43 NM_052873.3(IFT43):c.1A>G (p.Met1Val) SNV Pathogenic 31098 rs387907107 GRCh37: 14:76452130-76452130
GRCh38: 14:75985787-75985787
11 WDR35 NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) SNV Pathogenic 65619 rs199952377 GRCh37: 2:20141557-20141557
GRCh38: 2:19941796-19941796
12 WDR35 NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro) SNV Pathogenic 65620 rs397515533 GRCh37: 2:20146297-20146297
GRCh38: 2:19946536-19946536
13 IFT122 NM_052989.3(IFT122):c.955del (p.Glu319fs) Deletion Pathogenic 65740 rs397515567 GRCh37: 3:129195293-129195293
GRCh38: 3:129476450-129476450
14 IFT122 NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg) SNV Pathogenic 65741 rs397515568 GRCh37: 3:129198760-129198760
GRCh38: 3:129479917-129479917
15 IFT122 NM_052989.3(IFT122):c.2375+2T>C SNV Pathogenic 191185 rs786205567 GRCh37: 3:129218913-129218913
GRCh38: 3:129500070-129500070
16 WDR35 NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys) SNV Pathogenic 488657 rs1553313859 GRCh37: 2:20113406-20113406
GRCh38: 2:19913645-19913645
17 WDR35 NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) SNV Pathogenic 431796 rs765513105 GRCh37: 2:20182232-20182232
GRCh38: 2:19982471-19982471
18 IFT140 NM_014714.4(IFT140):c.3454-488_4182+2588dup Duplication Pathogenic 523177 GRCh37: 16:1565628-1565629
GRCh38: 16:1515627-1515628
19 IFT140 NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) SNV Pathogenic 523181 rs1417500285 GRCh37: 16:1612008-1612008
GRCh38: 16:1562007-1562007
20 WDR35 NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) SNV Pathogenic 65619 rs199952377 GRCh37: 2:20141557-20141557
GRCh38: 2:19941796-19941796
21 WDR35 NM_020779.4(WDR35):c.1195-1699dup Duplication Pathogenic 570299 rs1327489348 GRCh37: 2:20162072-20162073
GRCh38: 2:19962311-19962312
22 WDR35 NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) SNV Pathogenic 572077 rs767751856 GRCh37: 2:20153614-20153614
GRCh38: 2:19953853-19953853
23 WDR19 NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) SNV Pathogenic 558759 rs771148519 GRCh37: 4:39226647-39226647
GRCh38: 4:39225027-39225027
24 WDR35 NM_020779.4(WDR35):c.994C>T (p.Arg332Ter) SNV Pathogenic 579675 rs199840434 GRCh37: 2:20169255-20169255
GRCh38: 2:19969494-19969494
25 WDR35 NM_020779.4(WDR35):c.2976del (p.Leu993fs) Deletion Pathogenic 839633 GRCh37: 2:20130302-20130302
GRCh38: 2:19930541-19930541
26 IFT122 NM_052989.3(IFT122):c.3076_3079delinsG (p.Tyr1026_Ile1027delinsVal) Indel Pathogenic 983302 GRCh37: 3:129233320-129233323
GRCh38: 3:129514477-129514480
27 WDR35 NM_020779.4(WDR35):c.2617C>T (p.Gln873Ter) SNV Pathogenic 1029996 GRCh37: 2:20133203-20133203
GRCh38: 2:19933442-19933442
28 WDR35 NM_020779.4(WDR35):c.1362del (p.Asn455fs) Deletion Pathogenic 1032518 GRCh37: 2:20153633-20153633
GRCh38: 2:19953872-19953872
29 WDR35 NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter) SNV Pathogenic 572077 rs767751856 GRCh37: 2:20153614-20153614
GRCh38: 2:19953853-19953853
30 IFT122 NM_052989.3(IFT122):c.2748T>G (p.Tyr916Ter) SNV Pathogenic 1033024 GRCh37: 3:129225349-129225349
GRCh38: 3:129506506-129506506
31 WDR19 NM_025132.4(WDR19):c.3061_3062del (p.Lys1021fs) Deletion Pathogenic 1034086 GRCh37: 4:39257525-39257526
GRCh38: 4:39255905-39255906
32 IFT122 NM_052989.3(IFT122):c.172T>C (p.Cys58Arg) SNV Likely pathogenic 982385 GRCh37: 3:129170820-129170820
GRCh38: 3:129451977-129451977
33 IFT122 NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro) SNV Likely pathogenic 974392 GRCh37: 3:129200416-129200416
GRCh38: 3:129481573-129481573
34 IFT122 NM_052989.3(IFT122):c.896G>A (p.Gly299Asp) SNV Likely pathogenic 974393 GRCh37: 3:129195237-129195237
GRCh38: 3:129476394-129476394
35 WDR35 NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) SNV Likely pathogenic 446644 rs200649783 GRCh37: 2:20169317-20169317
GRCh38: 2:19969556-19969556
36 IFT122 NM_052989.3(IFT122):c.965C>T (p.Ser322Phe) SNV Likely pathogenic 4636 rs267607192 GRCh37: 3:129195306-129195306
GRCh38: 3:129476463-129476463
37 IFT122 NM_052989.3(IFT122):c.349+1G>A SNV Likely pathogenic 581388 rs1559869525 GRCh37: 3:129180148-129180148
GRCh38: 3:129461305-129461305
38 WDR35 NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter) SNV Likely pathogenic 65619 rs199952377 GRCh37: 2:20141557-20141557
GRCh38: 2:19941796-19941796
39 WDR35 NM_020779.4(WDR35):c.3345G>A (p.Leu1115=) SNV Likely pathogenic 570668 rs746128772 GRCh37: 2:20113815-20113815
GRCh38: 2:19914054-19914054
40 WDR35 NM_020779.4(WDR35):c.1255+1G>A SNV Likely pathogenic 286673 rs371669862 GRCh37: 2:20160314-20160314
GRCh38: 2:19960553-19960553
41 WDR35 NM_020779.4(WDR35):c.1846-30_1848del Deletion Likely pathogenic 471484 rs1553317813 GRCh37: 2:20141598-20141630
GRCh38: 2:19941837-19941869
42 SPAG17 NM_206996.4(SPAG17):c.1069G>C (p.Asp357His) SNV Likely pathogenic 437866 rs183758503 GRCh37: 1:118635883-118635883
GRCh38: 1:118093260-118093260
43 WDR35 NM_020779.4(WDR35):c.1382G>A (p.Arg461Gln) SNV Likely pathogenic 437865 rs200140363 GRCh37: 2:20153613-20153613
GRCh38: 2:19953852-19953852
44 WDR19 NM_025132.4(WDR19):c.1434C>G (p.Ile478Met) SNV Likely pathogenic 266105 rs886039814 GRCh37: 4:39219680-39219680
GRCh38: 4:39218060-39218060
45 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
46 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
47 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
48 IFT122 NM_052989.3(IFT122):c.2783T>A (p.Ile928Lys) SNV Uncertain significance 835061 GRCh37: 3:129225384-129225384
GRCh38: 3:129506541-129506541
49 WDR35 NM_020779.4(WDR35):c.2936G>A (p.Arg979Gln) SNV Uncertain significance 838113 GRCh37: 2:20131058-20131058
GRCh38: 2:19931297-19931297
50 WDR35 NM_020779.4(WDR35):c.308G>T (p.Gly103Val) SNV Uncertain significance 839632 GRCh37: 2:20178640-20178640
GRCh38: 2:19978879-19978879

Expression for Cranioectodermal Dysplasia

Search GEO for disease gene expression data for Cranioectodermal Dysplasia.

Pathways for Cranioectodermal Dysplasia

Pathways related to Cranioectodermal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 WDR35 WDR19 TTC21B IFT88 IFT80 IFT52
2
Show member pathways
12.35 WDR35 WDR19 TTC21B IFT88 IFT52 IFT172
3 11.08 WDR35 WDR19 TTC21B IFT88 IFT80 IFT52

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 10.45 WDR35 WDR19 TTC21B TGFB3 SPAG17 NEK1
2 cytoskeleton GO:0005856 10.21 WDR35 WDR19 TTC21B SPAG17 NEK1 IFT88
3 centrosome GO:0005813 10.06 WDR35 NEK1 IFT88 IFT80 IFT52 IFT140
4 microtubule organizing center GO:0005815 10.05 WDR35 NEK1 IFT88 IFT140 DYNC2LI1 DYNC2I2
5 ciliary tip GO:0097542 10 WDR35 WDR19 TTC21B IFT88 IFT80 IFT52
6 ciliary basal body GO:0036064 9.97 WDR35 IFT88 IFT80 IFT52 IFT172 IFT140
7 motile cilium GO:0031514 9.93 WDR19 SPAG17 IFT88 IFT52 DYNC2LI1 DYNC2H1
8 axoneme GO:0005930 9.91 WDR35 IFT172 IFT140 DYNC2LI1 DYNC2I2 DYNC2H1
9 centriole GO:0005814 9.87 IFT88 IFT52 IFT140 DYNC2I2
10 photoreceptor connecting cilium GO:0032391 9.84 WDR19 IFT52 IFT140 IFT122
11 non-motile cilium GO:0097730 9.83 WDR19 IFT88 IFT140 IFT122
12 cell projection GO:0042995 9.83 WDR35 WDR19 TTC21B SPAG17 IFT88 IFT80
13 cytoplasmic dynein complex GO:0005868 9.8 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
14 intraciliary transport particle B GO:0030992 9.78 IFT88 IFT80 IFT52 IFT172
15 ciliary base GO:0097546 9.73 IFT88 IFT52 DYNC2I1
16 intraciliary transport particle A GO:0030991 9.73 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
17 pericentriolar material GO:0000242 9.58 NEK1 DYNC2I1
18 ciliary plasm GO:0097014 9.55 DYNC2I2 DYNC2I1
19 cilium GO:0005929 9.5 WDR35 WDR19 TTC21B SPAG17 IFT88 IFT80

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 intraciliary retrograde transport GO:0035721 9.96 WDR35 WDR19 TTC21B IFT43 IFT140 IFT122
2 cell projection organization GO:0030030 9.93 WDR35 WDR19 SPAG17 NEK1 IFT88 IFT52
3 intraciliary transport GO:0042073 9.92 WDR35 IFT88 IFT52 IFT172 IFT140 IFT122
4 non-motile cilium assembly GO:1905515 9.91 IFT88 IFT80 IFT52 IFT172 IFT140 IFT122
5 determination of left/right symmetry GO:0007368 9.85 IFT52 IFT172 IFT140 DYNC2LI1 DYNC2H1
6 smoothened signaling pathway GO:0007224 9.83 WDR19 TTC21B IFT80 IFT52 IFT172
7 protein localization to cilium GO:0061512 9.8 WDR35 TTC21B IFT140 IFT122 DYNC2H1
8 cilium assembly GO:0060271 9.8 WDR35 WDR19 NEK1 IFT88 IFT80 IFT52
9 microtubule-based movement GO:0007018 9.72 DYNC2I2 DYNC2I1 DYNC2H1
10 negative regulation of epithelial cell proliferation GO:0050680 9.71 IFT80 IFT52 IFT172
11 regulation of cilium assembly GO:1902017 9.7 IFT88 IFT140 DYNC2LI1
12 limb development GO:0060173 9.69 IFT80 IFT172 IFT122
13 dorsal/ventral pattern formation GO:0009953 9.67 IFT52 IFT172 DYNC2H1
14 regulation of smoothened signaling pathway GO:0008589 9.65 TTC21B IFT172 IFT140
15 negative regulation of smoothened signaling pathway GO:0045879 9.58 IFT172 IFT122
16 spinal cord motor neuron differentiation GO:0021522 9.58 IFT172 DYNC2H1
17 embryonic camera-type eye development GO:0031076 9.57 WDR19 IFT140
18 neural tube formation GO:0001841 9.56 IFT52 IFT172
19 intraciliary transport involved in cilium assembly GO:0035735 9.47 WDR35 WDR19 TTC21B IFT88 IFT80 IFT52

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 8.96 DYNC2I2 DYNC2I1
2 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Cranioectodermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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