CED3
MCID: CRN110
MIFTS: 27

Cranioectodermal Dysplasia 3 (CED3)

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

Aliases & Classifications for Cranioectodermal Dysplasia 3

MalaCards integrated aliases for Cranioectodermal Dysplasia 3:

Name: Cranioectodermal Dysplasia 3 56 73 29 13 6 71
Ced3 56 73
Dysplasia, Cranioectodermal, Type 3 39
Sensenbrenner Syndrome 3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 3

OMIM : 56 Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011). For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330). (614099)

MalaCards based summary : Cranioectodermal Dysplasia 3, is also known as ced3, and has symptoms including dry skin An important gene associated with Cranioectodermal Dysplasia 3 is IFT43 (Intraflagellar Transport 43). Affiliated tissues include heart, skin and kidney, and related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : 73 Cranioectodermal dysplasia 3: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.

Related Diseases for Cranioectodermal Dysplasia 3

Diseases in the Cranioectodermal Dysplasia 1 family:

Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 4

Symptoms & Phenotypes for Cranioectodermal Dysplasia 3

Human phenotypes related to Cranioectodermal Dysplasia 3:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 occasional (7.5%) HP:0000256
2 frontal bossing 31 occasional (7.5%) HP:0002007
3 everted lower lip vermilion 31 occasional (7.5%) HP:0000232
4 cirrhosis 31 occasional (7.5%) HP:0001394
5 micrognathia 31 occasional (7.5%) HP:0000347
6 sandal gap 31 occasional (7.5%) HP:0001852
7 telecanthus 31 occasional (7.5%) HP:0000506
8 peripheral pulmonary artery stenosis 31 occasional (7.5%) HP:0004969
9 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
10 sagittal craniosynostosis 31 occasional (7.5%) HP:0004442
11 postaxial polydactyly 31 occasional (7.5%) HP:0100259
12 scaphocephaly 31 occasional (7.5%) HP:0030799
13 widely spaced teeth 31 HP:0000687
14 short stature 31 HP:0004322
15 dry skin 31 HP:0000958
16 joint laxity 31 HP:0001388
17 brachydactyly 31 HP:0001156
18 fine hair 31 HP:0002213
19 narrow chest 31 HP:0000774
20 nephronophthisis 31 HP:0000090
21 sparse hair 31 HP:0008070
22 broad nail 31 HP:0001821
23 cutis laxa 31 HP:0000973
24 short nail 31 HP:0001799
25 ectodermal dysplasia 31 HP:0000968
26 hypoplasia of teeth 31 HP:0000685
27 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
widely spaced teeth
hypoplastic teeth

Skin Nails Hair Skin:
dry skin
skin laxity

Skeletal Hands:
brachydactyly
webbing of fingers
postaxial polydactyly, bilateral (in some patients)

Skeletal Feet:
syndactyly
postaxial polydactyly, bilateral (in some patients)
sandal gap, bilateral (in some patients)

Skin Nails Hair Hair:
sparse, fine hair

Skin Nails Hair Nails:
short, broad nails

Head And Neck Eyes:
telecanthus (in some patients)

Cardiovascular Vascular:
peripheral pulmonary stenosis (in some patients)

Skeletal Skull:
sagittal suture synostosis (in some patients)

Growth Height:
short stature

Skeletal Limbs:
joint laxity
rhizomelic limbs
shortening or bowing of humeri

Genitourinary Kidneys:
nephronophthisis
end-stage renal disease (in some patients)

Chest External Features:
narrow thorax

Head And Neck Face:
micrognathia (in some patients)
frontal bossing (in some patients)

Head And Neck Head:
macrocephaly (in some patients)
scaphocephaly (in some patients)

Head And Neck Mouth:
everted lower lip (in some patients)

Abdomen Liver:
neonatal cholestasis (in some patients)
cirrhosis (in some patients)

Clinical features from OMIM:

614099

UMLS symptoms related to Cranioectodermal Dysplasia 3:


dry skin

Drugs & Therapeutics for Cranioectodermal Dysplasia 3

Search Clinical Trials , NIH Clinical Center for Cranioectodermal Dysplasia 3

Genetic Tests for Cranioectodermal Dysplasia 3

Genetic tests related to Cranioectodermal Dysplasia 3:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 3 29 IFT43

Anatomical Context for Cranioectodermal Dysplasia 3

MalaCards organs/tissues related to Cranioectodermal Dysplasia 3:

40
Heart, Skin, Kidney, Myeloid, Pituitary

Publications for Cranioectodermal Dysplasia 3

Articles related to Cranioectodermal Dysplasia 3:

(show all 28)
# Title Authors PMID Year
1
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 6 56
21378380 2011
2
Cranioectodermal Dysplasia 6
24027799 2013
3
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. 56
20817137 2010
4
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 56
20493458 2010
5
Oleanolic acid from antifilarial triterpene saponins of Dipterocarpus zeylanicus induces oxidative stress and apoptosis in filarial parasite Setaria digitata in vitro. 61
28351683 2017
6
Can't live without them, can live with them: roles of caspases during vital cellular processes. 61
19373560 2009
7
Ultrasound biomicroscopy study of the Verisyse aphakic intraocular lens combined with penetrating keratoplasty in pseudophakic bullous keratopathy. 61
17321397 2007
8
Camptothecin induced mitochondrial dysfunction leading to programmed cell death in unicellular hemoflagellate Leishmania donovani. 61
15118764 2004
9
Homology modeling of nematode Caenorhabditis elegans CED3 protein-inhibitor complex. 61
11178968 2001
10
The neuroprotective effect of pituitary adenylate cyclase-activating polypeptide on cerebellar granule cells is mediated through inhibition of the CED3-related cysteine protease caspase-3/CPP32. 61
11087878 2000
11
ATP-activated oligomerization as a mechanism for apoptosis regulation: fold and mechanism prediction for CED-4. 61
10737940 2000
12
Conservation and Evolution of the "Core Apoptotic Engine" Lesson from the Genome Comparison of Drosophila. 61
12058178 2000
13
Pharmacodynamics and toxicodynamics of drug action: signaling in cell survival and cell death. 61
10397596 1999
14
Intracellular mechanisms of ovarian cell apoptosis. 61
9922095 1998
15
Differential activation of MAPK and ICE/Ced-3 protease in chemical-induced apoptosis. The role of oxidative stress in the regulation of mitogen-activated protein kinases (MAPKs) leading to gene expression and survival or activation of caspases leading to apoptosis. 61
12671299 1998
16
Transient global forebrain ischemia induces a prolonged expression of the caspase-3 mRNA in rat hippocampal CA1 pyramidal neurons. 61
9498841 1998
17
Bcl-2 antisense therapy for cancer: the art of persuading tumour cells to commit suicide. 61
14646503 1998
18
Involvement of CPP32/Caspase-3 in c-Myc-induced apoptosis. 61
9467964 1998
19
[Caenorhabditis elegans and neuronal death in mammals]. 61
9683996 1997
20
Role of caspases (ICE/CED 3 proteases) in DNA damage and cell death in response to a mitochondrial inhibitor, antimycin A. 61
9263999 1997
21
The PI 3-kinase/Akt signaling pathway delivers an anti-apoptotic signal. 61
9087425 1997
22
The role of the Caspase family of cysteine proteases in apoptosis. 61
9106306 1997
23
Activation of the CED3/ICE-related protease CPP32 in cerebellar granule neurons undergoing apoptosis but not necrosis. 61
8987778 1997
24
Exploring cell death mechanisms by analyzing signaling cascades of the TNF/NGF receptor family. 61
8950472 1996
25
ICE/CED3-like proteases as therapeutic targets for the control of inappropriate apoptosis. 61
9630889 1996
26
Stimulation of interleukin-1beta-converting enzyme activity during growth inhibition by CPT-11 in the human myeloid leukemia cell line K562. 61
8812723 1996
27
Gonadal cell apoptosis. 61
8701090 1996
28
Senescent human fibroblasts resist programmed cell death, and failure to suppress bcl2 is involved. 61
7757977 1995

Variations for Cranioectodermal Dysplasia 3

ClinVar genetic disease variations for Cranioectodermal Dysplasia 3:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT43 NM_052873.3(IFT43):c.1A>G (p.Met1Val)SNV Pathogenic 31098 rs387907107 14:76452130-76452130 14:75985787-75985787
2 IFT43 NM_052873.3(IFT43):c.214_215+2deldeletion Uncertain significance 631717 rs777112610 14:76488736-76488739 14:76022393-76022396

Expression for Cranioectodermal Dysplasia 3

Search GEO for disease gene expression data for Cranioectodermal Dysplasia 3.

Pathways for Cranioectodermal Dysplasia 3

GO Terms for Cranioectodermal Dysplasia 3

Sources for Cranioectodermal Dysplasia 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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