MCID: CRN110
MIFTS: 23

Cranioectodermal Dysplasia 3

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

Aliases & Classifications for Cranioectodermal Dysplasia 3

MalaCards integrated aliases for Cranioectodermal Dysplasia 3:

Name: Cranioectodermal Dysplasia 3 53 71 28 13 69
Ced3 53 71
Sensenbrenner Syndrome 3 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 3

OMIM : 53 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 joint laxity, dry skin and macrocephaly. An important gene associated with Cranioectodermal Dysplasia 3 is IFT43 (Intraflagellar Transport 43). Affiliated tissues include heart, skin and kidney.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
joint laxity
rhizomelic limbs
shortening or bowing of humeri

Head And Neck Teeth:
widely spaced teeth
hypoplastic teeth

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)

Skin Nails Hair Skin:
dry skin
skin laxity

Growth Height:
short stature

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

Human phenotypes related to Cranioectodermal Dysplasia 3:

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

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 28 IFT43

Anatomical Context for Cranioectodermal Dysplasia 3

MalaCards organs/tissues related to Cranioectodermal Dysplasia 3:

38
Heart, Skin, Kidney

Publications for Cranioectodermal Dysplasia 3

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

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
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
45 NCI
46 NCIt
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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