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 57 75 29 13 6
Cranioectodermal Dysplasia 12 24 53 25 59 37 29 6 73
Sensenbrenner Syndrome 57 12 76 24 53 25 59 75 15
Levin Syndrome I 57 75
Ced1 57 75
Ced 25 59
Dysplasia, Cranioectodermal, Type 1 40
Cranio-Ectodermal Dysplasia 75
Dysplasia, Cranioectodermal 40
Levin Syndrome 1 53
Levin Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
cranioectodermal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 1:
Inheritance autosomal recessive inheritance


GeneReviews:

24
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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1515Disease definitionCranioectodermal 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).EpidemiologyTo date, 20 cases have been reported in the literature.Clinical descriptionCED 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.EtiologyCED 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 methodsDiagnosis 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 diagnosisDifferential 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 counselingIn most cases, transmission is autosomal recessive.Management and treatmentIn 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.PrognosisPrognosis depends on renal, heart and lung defects which can be life threatening.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cranioectodermal Dysplasia 1, also known as cranioectodermal dysplasia, is related to short-rib thoracic dysplasia 12 and short-rib thoracic dysplasia 3 with or without polydactyly. 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 lung, and related phenotypes are pectus excavatum and frontal bossing

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 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 82)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 12 30.0 IFT122 IFT80 TTC21B WDR19
2 short-rib thoracic dysplasia 3 with or without polydactyly 28.4 DYNC2H1 IFT122 IFT80 TTC21B WDR19 WDR35
3 short-rib thoracic dysplasia 6 with or without polydactyly 28.0 DYNC2H1 IFT122 IFT80 TRAF3IP1 TTC21B
4 short-rib thoracic dysplasia 1 with or without polydactyly 26.9 DYNC2H1 IFT140 IFT80 TRAF3IP1 TTC21B WDR19
5 zadik barak levin syndrome 12.2
6 kleine-levin hibernation syndrome 12.1
7 spondylocostal dysostosis 5 11.9
8 spondylocostal dysostosis 3, autosomal recessive 11.8
9 camurati-engelmann disease 11.7
10 atrial tachyarrhythmia with short pr interval 11.6
11 spondylocostal dysostosis 1, autosomal recessive 11.5
12 spondylocostal dysostosis 1 11.2
13 caspase 8 deficiency 11.2
14 ribbing disease 11.1
15 spondylocostal dysostosis, autosomal recessive 11.0
16 gnathodiaphyseal dysplasia 10.8
17 osteogenesis imperfecta levin type 10.8
18 short-rib thoracic dysplasia 9 with or without polydactyly 10.8
19 short-rib thoracic dysplasia 2 with or without polydactyly 10.8
20 cranioectodermal dysplasia 2 10.8
21 short-rib thoracic dysplasia 4 with or without polydactyly 10.8
22 short-rib thoracic dysplasia 7 with or without polydactyly 10.8
23 cranioectodermal dysplasia 3 10.8
24 short-rib thoracic dysplasia 5 with or without polydactyly 10.8
25 cranioectodermal dysplasia 4 10.8
26 short-rib thoracic dysplasia 8 with or without polydactyly 10.8
27 short-rib thoracic dysplasia 10 with or without polydactyly 10.8
28 short-rib thoracic dysplasia 11 with or without polydactyly 10.8
29 short-rib thoracic dysplasia 14 with polydactyly 10.8
30 short-rib thoracic dysplasia 15 with polydactyly 10.8
31 short-rib thoracic dysplasia 16 with or without polydactyly 10.8
32 short-rib thoracic dysplasia 17 with or without polydactyly 10.8
33 short-rib thoracic dysplasia 18 with polydactyly 10.8
34 short-rib thoracic dysplasia 19 with or without polydactyly 10.8
35 short-rib thoracic dysplasia 20 with polydactyly 10.8
36 hypersomnia 10.3
37 hemophagocytic lymphohistiocytosis, familial, 1 10.1 IFT122 WDR35
38 encephalitis 10.0
39 dysostosis 10.0
40 recurrent hypersomnia 9.9
41 narcolepsy 9.9
42 hemophagocytic lymphohistiocytosis, familial, 2 9.9 IFT122 WDR35
43 progressive familial heart block, type ia 9.8
44 autism 9.8
45 hypothalamic disease 9.8
46 depression 9.8
47 multiple sclerosis 9.7
48 holt-oram syndrome 9.7
49 prader-willi syndrome 9.7
50 schizophrenia 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:

57
Chest Ribs Sternum 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

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)

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

Skeletal:
osteoporosis
joint laxity

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:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
6 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
7 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
8 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
10 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
11 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
12 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
13 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
14 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
15 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
16 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
17 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
18 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
19 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
20 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
21 taurodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000679
22 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
23 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
24 hypotelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000601
25 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
26 abnormal diaphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000940
27 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
28 clinodactyly 32 HP:0030084
29 high palate 32 HP:0000218
30 widely spaced teeth 32 HP:0000687
31 hepatomegaly 32 HP:0002240
32 abnormality of the dentition 59 Very frequent (99-80%)
33 wide nasal bridge 32 HP:0000431
34 full cheeks 32 HP:0000293
35 high, narrow palate 32 HP:0002705
36 hepatic fibrosis 32 HP:0001395
37 bicuspid aortic valve 32 HP:0001647
38 short toe 32 HP:0001831
39 telecanthus 32 HP:0000506
40 hepatic cysts 32 HP:0001407
41 joint laxity 32 HP:0001388
42 flattened epiphysis 32 HP:0003071
43 hypocalcemia 32 HP:0002901
44 fine hair 32 HP:0002213
45 high-grade hypermetropia 59 Occasional (29-5%)
46 hepatic failure 32 HP:0001399
47 abnormality of the toenails 59 Very frequent (99-80%)
48 slow-growing hair 32 HP:0002217
49 single transverse palmar crease 32 HP:0000954
50 retinal dystrophy 32 HP:0000556

MGI Mouse Phenotypes related to Cranioectodermal Dysplasia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 WDR35 DYNC2H1 IFT122 IFT140 IFT80 MBD4
2 craniofacial MP:0005382 9.98 IFT140 IFT80 MBD4 TTC21B WDR19 DYNC2H1
3 embryo MP:0005380 9.97 DYNC2H1 IFT122 IFT140 MBD4 TRAF3IP1 TTC21B
4 limbs/digits/tail MP:0005371 9.97 DYNC2H1 IFT122 IFT140 IFT80 MBD4 TRAF3IP1
5 mortality/aging MP:0010768 9.91 DYNC2H1 IFT122 IFT140 IFT52 IFT80 MBD4
6 digestive/alimentary MP:0005381 9.88 DYNC2H1 IFT122 IFT140 MBD4 WDR19 WDR35
7 nervous system MP:0003631 9.7 WDR19 DYNC2H1 IFT122 IFT140 MBD4 TRAF3IP1
8 skeleton MP:0005390 9.43 DYNC2H1 IFT140 IFT80 TTC21B WDR19 WDR35
9 vision/eye MP:0005391 9.17 DYNC2H1 IFT122 IFT140 IFT80 MBD4 TRAF3IP1

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 29 IFT122
2 Cranioectodermal Dysplasia 29

Anatomical Context for Cranioectodermal Dysplasia 1

MalaCards organs/tissues related to Cranioectodermal Dysplasia 1:

41
Skin, Bone, Lung, Liver, Heart, Testes, Eye

Publications for Cranioectodermal Dysplasia 1

Articles related to Cranioectodermal Dysplasia 1:

# Title Authors Year
1
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. ( 26792575 )
2016
2
A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. ( 26691894 )
2016
3
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. ( 24689072 )
2014
4
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. ( 24123776 )
2013
5
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome). ( 22486404 )
2013
6
Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. ( 20493458 )
2010
7
Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome) ( 9182772 )
1997
8
Cranioectodermal Dysplasia ( 24027799 )
1993
9
Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities. ( 8418667 )
1993

Variations for Cranioectodermal Dysplasia 1

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

75
# 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
(show top 50) (show all 482)
# 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.1658T> G (p.Val553Gly) single nucleotide variant Pathogenic rs267607191 GRCh38 Chromosome 3, 129481546: 129481546
3 IFT122 NM_052985.3(IFT122): c.1118C> T (p.Ser373Phe) single nucleotide variant Pathogenic rs267607192 GRCh37 Chromosome 3, 129195306: 129195306
4 IFT122 NM_052985.3(IFT122): c.1118C> T (p.Ser373Phe) single nucleotide variant Pathogenic rs267607192 GRCh38 Chromosome 3, 129476463: 129476463
5 IFT122 NM_052985.3(IFT122): c.502+5G> A single nucleotide variant Pathogenic rs376595844 GRCh37 Chromosome 3, 129180152: 129180152
6 IFT122 NM_052985.3(IFT122): c.502+5G> A single nucleotide variant Pathogenic rs376595844 GRCh38 Chromosome 3, 129461309: 129461309
7 IFT122 NM_052985.3(IFT122): c.21G> C (p.Trp7Cys) single nucleotide variant Pathogenic rs267607193 GRCh37 Chromosome 3, 129159194: 129159194
8 IFT122 NM_052985.3(IFT122): c.21G> C (p.Trp7Cys) single nucleotide variant Pathogenic rs267607193 GRCh38 Chromosome 3, 129440351: 129440351
9 IFT122 NM_052985.3(IFT122): c.1108delG (p.Glu370Serfs) deletion Pathogenic rs397515567 GRCh37 Chromosome 3, 129195296: 129195296
10 IFT122 NM_052985.3(IFT122): c.1108delG (p.Glu370Serfs) deletion Pathogenic rs397515567 GRCh38 Chromosome 3, 129476453: 129476453
11 IFT122 NM_052985.3(IFT122): c.1636G> A (p.Gly546Arg) single nucleotide variant Pathogenic rs397515568 GRCh37 Chromosome 3, 129198760: 129198760
12 IFT122 NM_052985.3(IFT122): c.1636G> A (p.Gly546Arg) single nucleotide variant Pathogenic rs397515568 GRCh38 Chromosome 3, 129479917: 129479917
13 WDR35 NM_001006657.1(WDR35): c.2948A> G (p.Glu983Gly) single nucleotide variant Benign rs1191778 GRCh37 Chromosome 2, 20131079: 20131079
14 WDR35 NM_001006657.1(WDR35): c.2948A> G (p.Glu983Gly) single nucleotide variant Benign rs1191778 GRCh38 Chromosome 2, 19931318: 19931318
15 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh37 Chromosome 4, 39254828: 39254828
16 WDR19 NM_025132.3(WDR19): c.2792A> C (p.Tyr931Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs187546086 GRCh38 Chromosome 4, 39253208: 39253208
17 WDR35 NM_001006657.1(WDR35): c.2857-14G> T single nucleotide variant Benign rs1191779 GRCh37 Chromosome 2, 20131184: 20131184
18 WDR35 NM_001006657.1(WDR35): c.2857-14G> T single nucleotide variant Benign rs1191779 GRCh38 Chromosome 2, 19931423: 19931423
19 WDR35 NM_001006657.1(WDR35): c.1215A> G (p.Thr405=) single nucleotide variant Uncertain significance rs144673252 GRCh37 Chromosome 2, 20162068: 20162068
20 WDR35 NM_001006657.1(WDR35): c.1215A> G (p.Thr405=) single nucleotide variant Uncertain significance rs144673252 GRCh38 Chromosome 2, 19962307: 19962307
21 IFT122 NM_052990.2(IFT122): c.2042+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786205567 GRCh37 Chromosome 3, 129218913: 129218913
22 IFT122 NM_052990.2(IFT122): c.2042+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786205567 GRCh38 Chromosome 3, 129500070: 129500070
23 IFT122 NM_052985.3(IFT122): c.1256G> A (p.Ser419Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150550701 GRCh37 Chromosome 3, 129195600: 129195600
24 IFT122 NM_052985.3(IFT122): c.1256G> A (p.Ser419Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150550701 GRCh38 Chromosome 3, 129476757: 129476757
25 IFT122 NM_052985.3(IFT122): c.2146-7G> C single nucleotide variant Benign rs2285354 GRCh37 Chromosome 3, 129210977: 129210977
26 IFT122 NM_052985.3(IFT122): c.2146-7G> C single nucleotide variant Benign rs2285354 GRCh38 Chromosome 3, 129492134: 129492134
27 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
28 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
29 WDR19 NM_025132.3(WDR19): c.2364-15_2364-14delTT deletion Uncertain significance rs555557314 GRCh37 Chromosome 4, 39241882: 39241883
30 WDR19 NM_025132.3(WDR19): c.2364-15_2364-14delTT deletion Uncertain significance rs555557314 GRCh38 Chromosome 4, 39240262: 39240263
31 IFT122 NM_052985.3(IFT122): c.2874G> A (p.Ala958=) single nucleotide variant Uncertain significance rs371570973 GRCh37 Chromosome 3, 129225322: 129225322
32 IFT122 NM_052985.3(IFT122): c.2874G> A (p.Ala958=) single nucleotide variant Uncertain significance rs371570973 GRCh38 Chromosome 3, 129506479: 129506479
33 WDR35 NM_001006657.1(WDR35): c.2810A> G (p.Tyr937Cys) single nucleotide variant Uncertain significance rs75602337 GRCh37 Chromosome 2, 20132090: 20132090
34 WDR35 NM_001006657.1(WDR35): c.2810A> G (p.Tyr937Cys) single nucleotide variant Uncertain significance rs75602337 GRCh38 Chromosome 2, 19932329: 19932329
35 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
36 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
37 IFT122 NM_052985.3(IFT122): c.2146-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs531091599 GRCh38 Chromosome 3, 129492133: 129492133
38 IFT122 NM_052985.3(IFT122): c.2146-8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs531091599 GRCh37 Chromosome 3, 129210976: 129210976
39 IFT122 NM_052985.3(IFT122): c.3585C> T (p.Ile1195=) single nucleotide variant Conflicting interpretations of pathogenicity rs149884307 GRCh37 Chromosome 3, 129237990: 129237990
40 IFT122 NM_052985.3(IFT122): c.3585C> T (p.Ile1195=) single nucleotide variant Conflicting interpretations of pathogenicity rs149884307 GRCh38 Chromosome 3, 129519147: 129519147
41 WDR35 NM_001006657.1(WDR35): c.2529A> G (p.Glu843=) single nucleotide variant Benign rs6741091 GRCh37 Chromosome 2, 20135283: 20135283
42 WDR35 NM_001006657.1(WDR35): c.2529A> G (p.Glu843=) single nucleotide variant Benign rs6741091 GRCh38 Chromosome 2, 19935522: 19935522
43 LOC101928222; MATN3; WDR35 NM_002381.4(MATN3): c.1406-4C> T single nucleotide variant Benign/Likely benign rs35973216 GRCh37 Chromosome 2, 20192931: 20192931
44 LOC101928222; MATN3; WDR35 NM_002381.4(MATN3): c.1406-4C> T single nucleotide variant Benign/Likely benign rs35973216 GRCh38 Chromosome 2, 19993170: 19993170
45 IFT122 NM_052985.3(IFT122): c.893+15G> A single nucleotide variant Benign rs56379561 GRCh38 Chromosome 3, 129467081: 129467081
46 IFT122 NM_052985.3(IFT122): c.893+15G> A single nucleotide variant Benign rs56379561 GRCh37 Chromosome 3, 129185924: 129185924
47 IFT122 NM_052985.3(IFT122): c.978G> T (p.Lys326Asn) single nucleotide variant Likely benign rs117517364 GRCh37 Chromosome 3, 129195166: 129195166
48 IFT122 NM_052985.3(IFT122): c.978G> T (p.Lys326Asn) single nucleotide variant Likely benign rs117517364 GRCh38 Chromosome 3, 129476323: 129476323
49 IFT122 NM_052985.3(IFT122): c.1179C> T (p.Asp393=) single nucleotide variant Uncertain significance rs79187669 GRCh37 Chromosome 3, 129195523: 129195523
50 IFT122 NM_052985.3(IFT122): c.1179C> T (p.Asp393=) single nucleotide variant Uncertain significance rs79187669 GRCh38 Chromosome 3, 129476680: 129476680

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 9.54 IFT140 WDR19
14 intraciliary transport particle A GO:0030991 9.1 IFT122 IFT140 IFT43 TTC21B WDR19 WDR35
15 cytoplasm GO:0005737 10.22 DYNC2H1 IFT122 IFT140 IFT43 IFT80 TRAF3IP1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.92 DYNC2H1 IFT122 IFT140 IFT43 IFT52 TRAF3IP1
2 intraciliary transport involved in cilium assembly GO:0035735 9.85 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
3 determination of left/right symmetry GO:0007368 9.73 DYNC2H1 IFT140 IFT52
4 protein localization to cilium GO:0061512 9.73 DYNC2H1 IFT122 IFT140 TTC21B TULP4 WDR35
5 smoothened signaling pathway GO:0007224 9.71 IFT52 TTC21B WDR19
6 embryonic digit morphogenesis GO:0042733 9.71 IFT122 IFT140 IFT52 TRAF3IP1
7 dorsal/ventral pattern formation GO:0009953 9.69 DYNC2H1 IFT122 IFT52
8 non-motile cilium assembly GO:1905515 9.67 DYNC2H1 IFT122 IFT140 IFT52
9 intraciliary transport GO:0042073 9.63 IFT140 IFT52 TRAF3IP1
10 embryonic camera-type eye development GO:0031076 9.61 IFT140 TRAF3IP1 WDR19
11 cilium assembly GO:0060271 9.61 DYNC2H1 IFT122 IFT140 IFT43 IFT52 IFT80
12 negative regulation of epithelial cell proliferation GO:0050680 9.6 IFT122 IFT52
13 embryonic limb morphogenesis GO:0030326 9.59 DYNC2H1 WDR19
14 embryonic cranial skeleton morphogenesis GO:0048701 9.58 IFT140 WDR19
15 regulation of smoothened signaling pathway GO:0008589 9.58 IFT140 TTC21B
16 embryonic heart tube development GO:0035050 9.57 IFT122 TRAF3IP1
17 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.55 IFT122 WDR19
18 neural tube patterning GO:0021532 9.52 IFT140 TRAF3IP1
19 ciliary receptor clustering involved in smoothened signaling pathway GO:0060830 9.49 IFT122 WDR19
20 intraciliary anterograde transport GO:0035720 9.48 IFT122 IFT52
21 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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