CED3
MCID: CRN110
MIFTS: 26

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 58 76 30 13 6 74
Ced3 58 76
Dysplasia, Cranioectodermal, Type 3 41
Sensenbrenner Syndrome 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cranioectodermal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 3

OMIM : 58 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 : 76 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:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 occasional (7.5%) HP:0000256
2 frontal bossing 33 occasional (7.5%) HP:0002007
3 micrognathia 33 occasional (7.5%) HP:0000347
4 everted lower lip vermilion 33 occasional (7.5%) HP:0000232
5 cirrhosis 33 occasional (7.5%) HP:0001394
6 telecanthus 33 occasional (7.5%) HP:0000506
7 sandal gap 33 occasional (7.5%) HP:0001852
8 peripheral pulmonary artery stenosis 33 occasional (7.5%) HP:0004969
9 stage 5 chronic kidney disease 33 occasional (7.5%) HP:0003774
10 sagittal craniosynostosis 33 occasional (7.5%) HP:0004442
11 postaxial polydactyly 33 occasional (7.5%) HP:0100259
12 scaphocephaly 33 occasional (7.5%) HP:0030799
13 widely spaced teeth 33 HP:0000687
14 short stature 33 HP:0004322
15 narrow chest 33 HP:0000774
16 dry skin 33 HP:0000958
17 joint laxity 33 HP:0001388
18 brachydactyly 33 HP:0001156
19 fine hair 33 HP:0002213
20 sparse hair 33 HP:0008070
21 nephronophthisis 33 HP:0000090
22 broad nail 33 HP:0001821
23 syndactyly 33 HP:0001159
24 short nail 33 HP:0001799
25 ectodermal dysplasia 33 HP:0000968
26 hypoplasia of teeth 33 HP:0000685
27 cutis laxa 33 HP:0000973

Symptoms via clinical synopsis from OMIM:

58
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 30 IFT43

Anatomical Context for Cranioectodermal Dysplasia 3

MalaCards organs/tissues related to Cranioectodermal Dysplasia 3:

42
Heart, Skin, Kidney, Pituitary, Bone, Eye

Publications for Cranioectodermal Dysplasia 3

Articles related to Cranioectodermal Dysplasia 3:

# Title Authors Year
1
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. ( 21378380 )
2011
2
Homology modeling of nematode Caenorhabditis elegans CED3 protein-inhibitor complex. ( 11178968 )
2001
3
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. ( 11087878 )
2000
4
Activation of the CED3/ICE-related protease CPP32 in cerebellar granule neurons undergoing apoptosis but not necrosis. ( 8987778 )
1997
5
ICE/CED3-like proteases as therapeutic targets for the control of inappropriate apoptosis. ( 9630889 )
1996

Variations for Cranioectodermal Dysplasia 3

ClinVar genetic disease variations for Cranioectodermal Dysplasia 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT43 NM_052873.2(IFT43): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387907107 GRCh37 Chromosome 14, 76452130: 76452130
2 IFT43 NM_052873.2(IFT43): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387907107 GRCh38 Chromosome 14, 75985787: 75985787

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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