MCID: CRN108
MIFTS: 50

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 54 24 71 29 13
Cranioectodermal Dysplasia 12 23 50 24 25 56 29 69
Sensenbrenner Syndrome 12 23 50 24 25 56 71 14
Ced 25 56
Cranio-Ectodermal Dysplasia 71
Levin Syndrome 1 50
Levin Syndrome I 71
Levin Syndrome 12
Ced1 71

Characteristics:

Orphanet epidemiological data:

56
cranioectodermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 cranioectodermal dysplasia, is related to zadik barak levin syndrome and kleine-levin hibernation syndrome, and has symptoms including nystagmus, myopia and sparse hair. An important gene associated with Cranioectodermal Dysplasia 1 is IFT122 (Intraflagellar Transport 122), and among its related pathways/superpathways are Signaling by GPCR and Organelle biogenesis and maintenance. Affiliated tissues include skin, bone and kidney, and related phenotypes are cellular and growth/size/body region

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on ectodermal dysplasia.

Genetics Home Reference : 25 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.

OMIM : 54
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)

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 4
Cranioectodermal Dysplasia 3

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

(show top 50) (show all 76)
id Related Disease Score Top Affiliating Genes
1 zadik barak levin syndrome 11.8
2 kleine-levin hibernation syndrome 11.7
3 spondylocostal dysostosis 5 11.5
4 spondylocostal dysostosis 3, autosomal recessive 11.4
5 cranioectodermal dysplasia 2 11.4
6 cranioectodermal dysplasia 3 11.4
7 cranioectodermal dysplasia 4 11.4
8 camurati-engelmann disease 11.0
9 atrial tachyarrhythmia with short pr interval 11.0
10 autoimmune lymphoproliferative syndrome, type iib 11.0
11 spondylocostal dysostosis 1, autosomal recessive 10.9
12 gnathodiaphyseal dysplasia 10.7
13 spondylocostal dysostosis, autosomal recessive 10.7
14 osteogenesis imperfecta levin type 10.7
15 dll3-related spondylocostal dysostosis, autosomal recessive 10.7
16 short-rib thoracic dysplasia 8 with or without polydactyly 10.7
17 short-rib thoracic dysplasia 12 10.7
18 short-rib thoracic dysplasia 3 with or without polydactyly 10.7
19 short-rib thoracic dysplasia 15 with polydactyly 10.7
20 short-rib thoracic dysplasia 14 with polydactyly 10.7
21 short-rib thoracic dysplasia 7 with or without polydactyly 10.7
22 short-rib thoracic dysplasia 10 with or without polydactyly 10.7
23 short-rib thoracic dysplasia 1 with or without polydactyly 10.7
24 short-rib thoracic dysplasia 4 with or without polydactyly 10.7
25 short-rib thoracic dysplasia 9 with or without polydactyly 10.7
26 short-rib thoracic dysplasia 2 with or without polydactyly 10.7
27 short-rib thoracic dysplasia 17 with or without polydactyly 10.7
28 short-rib thoracic dysplasia 16 with or without polydactyly 10.7
29 short-rib thoracic dysplasia 5 with or without polydactyly 10.7
30 short-rib thoracic dysplasia 6 with or without polydactyly 10.7
31 lymphoma, non-hodgkin 10.5 IFT122 WDR35
32 phosphoserine aminotransferase deficiency 10.5 IFT122 WDR35
33 acid-labile subunit, deficiency of 10.4 IFT140 IFT172
34 senior-loken syndrome-1 10.2 IFT140 TTC21B WDR19
35 hypersomnia 10.2
36 spondyloepimetaphyseal dysplasia, camera-genevieve type 10.2 TTC21B WDR19
37 lymphedema, hereditary, id 10.2 DYNC2H1 IFT80 NEK1
38 horner's syndrome 10.1 DYNC2H1 NEK1 WDR35
39 primary lateral sclerosis, adult, 1 10.1 EVC EVC2
40 hypothalamic hamartomas, somatic 10.0 EVC EVC2
41 encephalitis 10.0
42 ciliopathy 10.0
43 recurrent hypersomnia 9.9
44 narcolepsy 9.9
45 dysostosis 9.9
46 dementia, familial british 9.9 EVC EVC2
47 acrodermatitis chronica atrophicans 9.8 IFT140 IFT52 TTC21B WDR19 WDR35
48 retinitis 9.8
49 autistic disorder 9.8
50 deficiency anemia 9.6

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:

54

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

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

Skeletal:
joint laxity
osteoporosis

Skin Nails & Hair- Nails:
short nails
thin nails

Head And Neck- Face:
frontal bossing
full cheeks
occipital bossing

Head And Neck- Teeth:
small teeth
hypodontia
widely spaced teeth
dental fusion
anodontia
more
Chest- External Features:
narrow chest

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

Head And Neck- Head:
scaphocephaly
dolichocephaly

Laboratory- Abnormalities:
hypocalcemia

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

Genitourinary- Kidneys:
progressive renal failure
tubulointerstitial nephritis

Head And Neck- Eyes:
epicanthal folds
telecanthus
hypotelorism
myopia (reported in 1 patient)
nystagmus (reported in 1 patient)
more
Skin Nails & Hair- Hair:
sparse hair
fine hair
slow-growing hair

Head And Neck- Mouth:
everted lower lip
high arched palate

Head And Neck- Nose:
anteverted nares
broad nasal bridge

Chest- Ribs Sternum Clavicles And Scapulae:
short ribs
pectus excavatum

Abdomen- External Features:
protuberant abdomen

Neurologic- Central Nervous System:
normal intelligence

Skeletal- Feet:
short toes
broad toes

Cardiovascular- Heart:
bicuspid aortic valve


Clinical features from OMIM:

218330

Human phenotypes related to Cranioectodermal Dysplasia 1:

56 32 (show top 50) (show all 69)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 myopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000545
3 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
4 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
5 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
6 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
8 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
9 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
10 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
11 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
12 hypotelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000601
13 rhizomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008905
14 craniosynostosis 56 32 frequent (33%) Frequent (79-30%) HP:0001363
15 prominent occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0000269
16 dolichocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000268
17 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 microdontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000691
19 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000232
20 taurodontia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000679
21 abnormality of the fingernails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001231
22 clinodactyly of the 5th finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0004209
23 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
24 high-grade hypermetropia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008499
25 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
26 abnormal diaphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0000940
27 abnormality of the toenails 56 32 hallmark (90%) Very frequent (99-80%) HP:0008388
28 brachydactyly 32 hallmark (90%) HP:0001156
29 renal magnesium wasting 32 HP:0005567
30 hepatomegaly 32 HP:0002240
31 joint laxity 32 HP:0001388
32 short ribs 32 HP:0000773
33 telecanthus 32 HP:0000506
34 hepatic fibrosis 32 HP:0001395
35 protuberant abdomen 32 HP:0001538
36 clinodactyly 32 HP:0030084
37 wide nasal bridge 32 HP:0000431
38 full cheeks 32 HP:0000293
39 tubulointerstitial nephritis 32 HP:0001970
40 hepatic failure 32 HP:0001399
41 hypocalcemia 32 HP:0002901
42 widely spaced teeth 32 HP:0000687
43 fine hair 32 HP:0002213
44 slow-growing hair 32 HP:0002217
45 anodontia 32 HP:0000674
46 retinal dystrophy 32 HP:0000556
47 bicuspid aortic valve 32 HP:0001647
48 hepatic cysts 32 HP:0001407
49 malformation of the hepatic ductal plate 32 HP:0006563
50 chronic kidney disease 32 HP:0012622

UMLS symptoms related to Cranioectodermal Dysplasia 1:


joint laxity, thin nail

MGI Mouse Phenotypes related to Cranioectodermal Dysplasia 1:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 DPH1 DYNC2H1 EVC EVC2 IFT122 IFT140
2 growth/size/body region MP:0005378 10.25 DPH1 DYNC2H1 EVC EVC2 FTO HCRT
3 craniofacial MP:0005382 10.24 IFT122 IFT140 IFT172 IFT80 NEK1 TTC21B
4 mortality/aging MP:0010768 10.21 NEK1 SCN1A WDR19 WDR35 DPH1 DYNC2H1
5 limbs/digits/tail MP:0005371 10.14 DPH1 DYNC2H1 EVC EVC2 IFT122 IFT140
6 embryo MP:0005380 10.06 DPH1 DYNC2H1 IFT122 IFT140 IFT172 TTC21B
7 digestive/alimentary MP:0005381 10.02 DPH1 DYNC2H1 IFT122 IFT140 IFT172 WDR19
8 nervous system MP:0003631 10.02 NEK1 SCN1A TTC21B WDR19 DPH1 DYNC2H1
9 renal/urinary system MP:0005367 9.8 DYNC2H1 FTO IFT140 IFT172 IFT80 NEK1
10 skeleton MP:0005390 9.73 DPH1 DYNC2H1 EVC EVC2 FTO IFT140
11 respiratory system MP:0005388 9.63 DPH1 DYNC2H1 HCRT IFT140 IFT172 WDR35
12 vision/eye MP:0005391 9.17 DPH1 DYNC2H1 IFT122 IFT140 IFT172 IFT80

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:

id Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 1 29 24 IFT122
2 Cranioectodermal Dysplasia 29 24 WDR35

Anatomical Context for Cranioectodermal Dysplasia 1

MalaCards organs/tissues related to Cranioectodermal Dysplasia 1:

39
Skin, Bone, Kidney

Publications for Cranioectodermal Dysplasia 1

Variations for Cranioectodermal Dysplasia 1

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

71
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 IFT122 NM_052985.3(IFT122): c.1658T> G (p.Val553Gly) single nucleotide variant Pathogenic rs267607191 GRCh37 Chromosome 3, 129200389: 129200389
2 IFT122 NM_052985.3(IFT122): c.1118C> T (p.Ser373Phe) single nucleotide variant Pathogenic rs267607192 GRCh37 Chromosome 3, 129195306: 129195306
3 IFT122 NM_052985.3(IFT122): c.502+5G> A single nucleotide variant Pathogenic rs376595844 GRCh37 Chromosome 3, 129180152: 129180152
4 IFT122 NM_052985.3(IFT122): c.21G> C (p.Trp7Cys) single nucleotide variant Pathogenic rs267607193 GRCh37 Chromosome 3, 129159194: 129159194
5 IFT122 NM_052985.3(IFT122): c.1108delG (p.Glu370Serfs) deletion Pathogenic rs397515567 GRCh37 Chromosome 3, 129195296: 129195296
6 IFT122 NM_052985.3(IFT122): c.1636G> A (p.Gly546Arg) single nucleotide variant Pathogenic rs397515568 GRCh37 Chromosome 3, 129198760: 129198760
7 IFT122 NM_052990.2(IFT122): c.2042+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786205567 GRCh38 Chromosome 3, 129500070: 129500070

Expression for Cranioectodermal Dysplasia 1

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

Pathways for Cranioectodermal Dysplasia 1

GO Terms for Cranioectodermal Dysplasia 1

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.97 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172
2 centrosome GO:0005813 9.89 IFT140 IFT52 IFT80 NEK1 WDR35
3 microtubule organizing center GO:0005815 9.83 IFT140 IFT43 NEK1 WDR35
4 ciliary basal body GO:0036064 9.8 EVC IFT122 IFT140 IFT172 WDR35
5 axoneme GO:0005930 9.73 DYNC2H1 IFT140 IFT172 WDR35
6 motile cilium GO:0031514 9.69 DYNC2H1 IFT52 WDR19
7 photoreceptor connecting cilium GO:0032391 9.67 IFT122 IFT140 IFT52 WDR19
8 ciliary tip GO:0097542 9.65 DYNC2H1 IFT122 IFT140 IFT172 IFT43 IFT52
9 intraciliary transport particle B GO:0030992 9.63 IFT172 IFT52 IFT80
10 ciliary base GO:0097546 9.55 IFT122 IFT52
11 non-motile cilium GO:0097730 9.54 IFT140 WDR19
12 intraciliary transport particle A GO:0030991 9.1 IFT122 IFT140 IFT43 TTC21B WDR19 WDR35
13 cytoplasm GO:0005737 10.32 DPH1 DYNC2H1 EVC EVC2 HCRT IFT122
14 cytoskeleton GO:0005856 10.06 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT43
15 cell projection GO:0042995 10.03 DYNC2H1 EVC EVC2 IFT122 IFT140 IFT172

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

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.86 DYNC2H1 IFT122 IFT140 IFT43 IFT52 NEK1
2 smoothened signaling pathway GO:0007224 9.85 EVC EVC2 IFT172 IFT52 TTC21B WDR19
3 cilium assembly GO:0060271 9.85 DYNC2H1 IFT122 IFT140 IFT172 IFT43 IFT52
4 non-motile cilium assembly GO:1905515 9.8 DYNC2H1 IFT122 IFT140 IFT172 IFT52
5 determination of left/right symmetry GO:0007368 9.76 DYNC2H1 IFT140 IFT172 IFT52
6 negative regulation of epithelial cell proliferation GO:0050680 9.73 IFT122 IFT172 IFT52
7 dorsal/ventral pattern formation GO:0009953 9.73 DYNC2H1 IFT122 IFT172 IFT52
8 protein localization to cilium GO:0061512 9.72 IFT122 IFT140 TTC21B TULP4 WDR35
9 embryonic digit morphogenesis GO:0042733 9.71 IFT122 IFT140 IFT52
10 positive regulation of smoothened signaling pathway GO:0045880 9.67 DYNC2H1 EVC IFT172
11 regulation of smoothened signaling pathway GO:0008589 9.65 IFT140 IFT172 TTC21B
12 intraciliary transport involved in cilium assembly GO:0035735 9.65 DYNC2H1 IFT122 IFT140 IFT172 IFT43 IFT52
13 embryonic cranial skeleton morphogenesis GO:0048701 9.59 IFT140 WDR19
14 temperature homeostasis GO:0001659 9.58 FTO HCRT
15 spinal cord motor neuron differentiation GO:0021522 9.58 DYNC2H1 IFT172
16 embryonic camera-type eye development GO:0031076 9.57 IFT140 WDR19
17 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.55 IFT122 WDR19
18 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.52 IFT122 WDR19
19 intraciliary anterograde transport GO:0035720 9.51 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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