MCID: CRN108
MIFTS: 53

Cranioectodermal Dysplasia 1

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

Aliases & Classifications for Cranioectodermal Dysplasia 1

MalaCards integrated aliases for Cranioectodermal Dysplasia 1:

Name: Cranioectodermal Dysplasia 1 53 71 28 13
Sensenbrenner Syndrome 53 12 72 23 49 24 55 71 14
Cranioectodermal Dysplasia 12 23 49 24 55 36 28 69
Levin Syndrome I 53 71
Ced1 53 71
Ced 24 55
Cranio-Ectodermal Dysplasia 71
Levin Syndrome 1 49
Levin Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
cranioectodermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 1:
Inheritance autosomal recessive inheritance


GeneReviews:

23
Penetrance Most individuals with molecularly confirmed ced have biallelic pathogenic missense variants that affect highly conserved nucleotides or a combination of a pathogenic missense variant with a severe, truncating variant; in these cases penetrance of cranioectodermal dysplasia is 100%...

Classifications:



Summaries for Cranioectodermal Dysplasia 1

UniProtKB/Swiss-Prot : 71 Cranioectodermal dysplasia 1: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.

MalaCards based summary : Cranioectodermal Dysplasia 1, also known as sensenbrenner syndrome, is related to short-rib thoracic dysplasia 12 and short-rib thoracic dysplasia 3 with or without polydactyly, and has symptoms including pectus excavatum, frontal bossing and finger syndactyly. An important gene associated with Cranioectodermal Dysplasia 1 is IFT122 (Intraflagellar Transport 122), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include skin, bone and kidney, and related phenotypes are cellular and craniofacial

OMIM : 53 Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). (218330)

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Ectodermal dysplasia.

Genetics Home Reference : 24 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.

Wikipedia : 72 Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) multisystem... more...

GeneReviews: NBK154653

Related Diseases for Cranioectodermal Dysplasia 1

Diseases in the Cranioectodermal Dysplasia 1 family:

Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 4

Diseases related to Cranioectodermal Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 12 30.5 IFT122 IFT80 TTC21B WDR19
2 short-rib thoracic dysplasia 3 with or without polydactyly 29.5 DYNC2H1 IFT122 IFT80 TTC21B WDR19 WDR35
3 short-rib thoracic dysplasia 6 with or without polydactyly 29.2 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
4 short-rib thoracic dysplasia 1 with or without polydactyly 28.5 DYNC2H1 IFT140 IFT80 TRAF3IP1 TTC21B WDR19
5 kleine-levin hibernation syndrome 12.1
6 zadik barak levin syndrome 11.9
7 spondylocostal dysostosis 5 11.9
8 spondylocostal dysostosis 3, autosomal recessive 11.8
9 camurati-engelmann disease 11.7
10 caspase 8 deficiency 11.6
11 atrial tachyarrhythmia with short pr interval 11.6
12 spondylocostal dysostosis 1, autosomal recessive 11.5
13 spondylocostal dysostosis 1 11.2
14 spondylocostal dysostosis, autosomal recessive 11.0
15 gnathodiaphyseal dysplasia 10.8
16 osteogenesis imperfecta levin type 10.8
17 short-rib thoracic dysplasia 9 with or without polydactyly 10.8
18 short-rib thoracic dysplasia 2 with or without polydactyly 10.8
19 cranioectodermal dysplasia 2 10.8
20 short-rib thoracic dysplasia 4 with or without polydactyly 10.8
21 short-rib thoracic dysplasia 7 with or without polydactyly 10.8
22 cranioectodermal dysplasia 3 10.8
23 short-rib thoracic dysplasia 5 with or without polydactyly 10.8
24 cranioectodermal dysplasia 4 10.8
25 short-rib thoracic dysplasia 8 with or without polydactyly 10.8
26 short-rib thoracic dysplasia 10 with or without polydactyly 10.8
27 short-rib thoracic dysplasia 11 with or without polydactyly 10.8
28 short-rib thoracic dysplasia 14 with polydactyly 10.8
29 short-rib thoracic dysplasia 15 with polydactyly 10.8
30 short-rib thoracic dysplasia 16 with or without polydactyly 10.8
31 short-rib thoracic dysplasia 17 with or without polydactyly 10.8
32 short-rib thoracic dysplasia 18 with polydactyly 10.8
33 hypersomnia 10.3
34 hemophagocytic lymphohistiocytosis, familial, 2 10.2 IFT122 WDR35
35 hemophagocytic lymphohistiocytosis, familial, 1 10.1 IFT122 WDR35
36 encephalitis 10.0
37 dysostosis 10.0
38 recurrent hypersomnia 9.9
39 narcolepsy 9.9
40 progressive familial heart block, type ia 9.8
41 autism 9.8
42 nephronophthisis 16 9.7 TTC21B WDR19
43 multiple sclerosis 9.7
44 holt-oram syndrome 9.7
45 migraine with or without aura 1 9.7
46 prader-willi syndrome 9.7
47 schizophrenia 9.7
48 neural tube defects 9.7
49 diastematomyelia 9.7
50 stroke, ischemic 9.7

Graphical network of the top 20 diseases related to Cranioectodermal Dysplasia 1:



Diseases related to Cranioectodermal Dysplasia 1

Symptoms & Phenotypes for Cranioectodermal Dysplasia 1

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
joint laxity
osteoporosis

Head And Neck Face:
frontal bossing
full cheeks
occipital bossing

Abdomen Liver:
hepatomegaly
hepatic fibrosis
hepatic cysts
hepatic failure (reported in 1 patient)
malformation of the hepatic ductal plate

Chest External Features:
narrow chest

Cardiovascular Heart:
bicuspid aortic valve

Skeletal Hands:
brachydactyly
single transverse palmar creases
clinodactyly (fifth finger)
short, broad distal phalanges

Skin Nails Hair Hair:
fine hair
sparse hair
slow-growing hair

Abdomen External Features:
protuberant abdomen

Neurologic Central Nervous System:
normal intelligence

Head And Neck Mouth:
high arched palate
everted lower lip

Skeletal Skull:
craniosynostosis, sagittal suture (approx. 50% patients)

Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
short ribs

Head And Neck Teeth:
widely spaced teeth
hypodontia
anodontia
small teeth
abnormal dental position
more
Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Head:
dolichocephaly
scaphocephaly

Head And Neck Eyes:
telecanthus
hypotelorism
epicanthal folds
myopia (reported in 1 patient)
nystagmus (reported in 1 patient)
more
Laboratory Abnormalities:
hypocalcemia

Genitourinary Kidneys:
tubulointerstitial nephritis
progressive renal failure

Skin Nails Hair Nails:
short nails
thin nails

Skeletal Limbs:
short fibulae
flattened epiphyses
short humeri
rhizomelic limb shortening (especially arms)

Skeletal Feet:
short toes
broad toes


Clinical features from OMIM:

218330

Human phenotypes related to Cranioectodermal Dysplasia 1:

55 31 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
2 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
4 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
5 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
6 osteoporosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
8 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
9 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
10 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
12 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
13 microdontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000691
14 prominent occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0000269
15 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
16 abnormality of the fingernails 55 31 hallmark (90%) Very frequent (99-80%) HP:0001231
17 rhizomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008905
18 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
19 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
20 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
21 taurodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000679
22 hypodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000668
23 craniosynostosis 55 31 frequent (33%) Frequent (79-30%) HP:0001363
24 hypotelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000601
25 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
26 abnormal diaphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0000940
27 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
28 joint laxity 31 HP:0001388
29 thin nail 31 HP:0001816
30 clinodactyly 31 HP:0030084
31 widely spaced teeth 31 HP:0000687
32 hepatomegaly 31 HP:0002240
33 abnormality of the dentition 55 Very frequent (99-80%)
34 wide nasal bridge 31 HP:0000431
35 full cheeks 31 HP:0000293
36 high, narrow palate 31 HP:0002705
37 hepatic fibrosis 31 HP:0001395
38 bicuspid aortic valve 31 HP:0001647
39 short toe 31 HP:0001831
40 telecanthus 31 HP:0000506
41 hepatic cysts 31 HP:0001407
42 flattened epiphysis 31 HP:0003071
43 hypocalcemia 31 HP:0002901
44 fine hair 31 HP:0002213
45 high-grade hypermetropia 55 Occasional (29-5%)
46 hepatic failure 31 HP:0001399
47 abnormality of the toenails 55 Very frequent (99-80%)
48 slow-growing hair 31 HP:0002217
49 single transverse palmar crease 31 HP:0000954
50 retinal dystrophy 31 HP:0000556

MGI Mouse Phenotypes related to Cranioectodermal Dysplasia 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 IFT80 DYNC2H1 TRAF3IP1 TTC21B IFT122 WDR19
2 craniofacial MP:0005382 9.88 IFT80 DYNC2H1 TTC21B IFT122 WDR19 IFT140
3 embryo MP:0005380 9.87 DYNC2H1 TRAF3IP1 TTC21B IFT122 WDR19 IFT140
4 limbs/digits/tail MP:0005371 9.86 DYNC2H1 TRAF3IP1 TTC21B IFT122 WDR19 IFT140
5 digestive/alimentary MP:0005381 9.77 DYNC2H1 IFT122 WDR19 IFT140 WDR35
6 mortality/aging MP:0010768 9.76 WDR35 IFT80 TRAF3IP1 DYNC2H1 IFT122 WDR19
7 skeleton MP:0005390 9.43 IFT80 DYNC2H1 TTC21B WDR19 IFT140 WDR35
8 vision/eye MP:0005391 9.1 IFT80 DYNC2H1 TRAF3IP1 IFT122 WDR19 IFT140

Drugs & Therapeutics for Cranioectodermal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Cranioectodermal Dysplasia 1

Genetic Tests for Cranioectodermal Dysplasia 1

Genetic tests related to Cranioectodermal Dysplasia 1:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 1 28 IFT122
2 Cranioectodermal Dysplasia 28

Anatomical Context for Cranioectodermal Dysplasia 1

MalaCards organs/tissues related to Cranioectodermal Dysplasia 1:

38
Skin, Bone, Kidney

Publications for Cranioectodermal Dysplasia 1

Articles related to Cranioectodermal Dysplasia 1:

# Title Authors Year
1
Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations. ( 28332779 )
2017
2
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. ( 24123776 )
2013
3
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). ( 22486404 )
2013
4
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. ( 22987818 )
2012
5
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. ( 21378380 )
2011
6
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. ( 20817137 )
2010
7
Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. ( 20493458 )
2010
8
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. ( 17022080 )
2006
9
Renal and retinal involvement in the Sensenbrenner syndrome. ( 9600748 )
1998
10
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) ( 9182772 )
1997

Variations for Cranioectodermal Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Cranioectodermal Dysplasia 1:

71
# Symbol AA change Variation ID SNP ID
1 IFT122 p.Trp7Cys VAR_063584 rs267607193
2 IFT122 p.Ser322Phe VAR_063585 rs267607192
3 IFT122 p.Val502Gly VAR_063586 rs267607191

ClinVar genetic disease variations for Cranioectodermal Dysplasia 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT122 NM_052985.3(IFT122): c.1108delG (p.Glu370Serfs) deletion Pathogenic rs397515567 GRCh37 Chromosome 3, 129195296: 129195296
2 IFT122 NM_052985.3(IFT122): c.1636G> A (p.Gly546Arg) single nucleotide variant Pathogenic rs397515568 GRCh37 Chromosome 3, 129198760: 129198760
3 IFT122 NM_052990.2(IFT122): c.2042+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786205567 GRCh38 Chromosome 3, 129500070: 129500070
4 IFT122 NM_052985.3(IFT122): c.1658T> G (p.Val553Gly) single nucleotide variant Pathogenic rs267607191 GRCh37 Chromosome 3, 129200389: 129200389
5 IFT122 NM_052985.3(IFT122): c.1118C> T (p.Ser373Phe) single nucleotide variant Pathogenic rs267607192 GRCh37 Chromosome 3, 129195306: 129195306
6 IFT122 NM_052985.3(IFT122): c.502+5G> A single nucleotide variant Pathogenic rs376595844 GRCh37 Chromosome 3, 129180152: 129180152
7 IFT122 NM_052985.3(IFT122): c.21G> C (p.Trp7Cys) single nucleotide variant Pathogenic rs267607193 GRCh37 Chromosome 3, 129159194: 129159194

Expression for Cranioectodermal Dysplasia 1

Search GEO for disease gene expression data for Cranioectodermal Dysplasia 1.

Pathways for Cranioectodermal Dysplasia 1

Pathways related to Cranioectodermal Dysplasia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
2
Show member pathways
12.24 DYNC2H1 IFT122 IFT140 IFT52 TTC21B WDR19
3 10.94 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80

GO Terms for Cranioectodermal Dysplasia 1

Cellular components related to Cranioectodermal Dysplasia 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 DYNC2H1 IFT122 IFT140 IFT43 IFT80 TRAF3IP1
2 cell projection GO:0042995 9.96 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
3 cilium GO:0005929 9.9 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
4 centrosome GO:0005813 9.89 IFT140 IFT52 IFT80 TRAF3IP1 WDR35
5 ciliary basal body GO:0036064 9.76 IFT122 IFT140 TRAF3IP1 WDR35
6 axoneme GO:0005930 9.71 DYNC2H1 IFT140 TRAF3IP1 WDR35
7 motile cilium GO:0031514 9.69 DYNC2H1 IFT52 WDR19
8 photoreceptor connecting cilium GO:0032391 9.67 IFT122 IFT140 IFT52 WDR19
9 ciliary base GO:0097546 9.65 IFT122 IFT52 TRAF3IP1
10 ciliary tip GO:0097542 9.65 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
11 intraciliary transport particle B GO:0030992 9.61 IFT52 IFT80 TRAF3IP1
12 photoreceptor outer segment GO:0001750 9.55 IFT140 WDR19
13 non-motile cilium GO:0097730 9.52 IFT140 WDR19
14 intraciliary transport particle A GO:0030991 9.1 IFT122 IFT140 IFT43 TTC21B WDR19 WDR35
15 cytoplasm GO:0005737 10.19 DYNC2H1 IFT122 IFT140 IFT43 IFT80 TRAF3IP1

Biological processes related to Cranioectodermal Dysplasia 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.86 DYNC2H1 IFT122 IFT140 IFT43 IFT52 TRAF3IP1
2 intraciliary transport involved in cilium assembly GO:0035735 9.85 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
3 smoothened signaling pathway GO:0007224 9.73 IFT52 IFT80 TTC21B WDR19
4 protein localization to cilium GO:0061512 9.72 IFT122 IFT140 TTC21B TULP4 WDR35
5 embryonic digit morphogenesis GO:0042733 9.71 IFT122 IFT140 IFT52 TRAF3IP1
6 negative regulation of epithelial cell proliferation GO:0050680 9.69 IFT122 IFT52 IFT80
7 non-motile cilium assembly GO:1905515 9.67 IFT122 IFT140 IFT52 IFT80
8 embryonic camera-type eye development GO:0031076 9.63 IFT140 TRAF3IP1 WDR19
9 cilium assembly GO:0060271 9.61 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
10 determination of left/right symmetry GO:0007368 9.59 IFT140 IFT52
11 dorsal/ventral pattern formation GO:0009953 9.58 IFT122 IFT52
12 embryonic cranial skeleton morphogenesis GO:0048701 9.58 IFT140 WDR19
13 regulation of smoothened signaling pathway GO:0008589 9.57 IFT140 TTC21B
14 embryonic heart tube development GO:0035050 9.56 IFT122 TRAF3IP1
15 intraciliary transport GO:0042073 9.55 IFT140 TRAF3IP1
16 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.54 IFT122 WDR19
17 neural tube patterning GO:0021532 9.52 IFT140 TRAF3IP1
18 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.49 IFT122 WDR19
19 intraciliary anterograde transport GO:0035720 9.48 IFT122 IFT52
20 intraciliary retrograde transport GO:0035721 9.17 DYNC2H1 IFT122 IFT140 IFT43 TTC21B WDR19

Sources for Cranioectodermal Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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