MCID: CRN110
MIFTS: 23

Cranioectodermal Dysplasia 3

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

Aliases & Classifications for Cranioectodermal Dysplasia 3

MalaCards integrated aliases for Cranioectodermal Dysplasia 3:

Name: Cranioectodermal Dysplasia 3 57 75 29 13 6 73
Ced3 57 75
Dysplasia, Cranioectodermal, Type 3 40
Sensenbrenner Syndrome 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 3

OMIM : 57 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 : 75 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:

57
Head And Neck Teeth:
widely spaced teeth
hypoplastic teeth

Skin Nails Hair Skin:
dry skin
skin laxity

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

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

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:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 occasional (7.5%) HP:0000256
2 frontal bossing 32 occasional (7.5%) HP:0002007
3 widely spaced teeth 32 HP:0000687
4 short stature 32 HP:0004322
5 micrognathia 32 occasional (7.5%) HP:0000347
6 narrow chest 32 HP:0000774
7 everted lower lip vermilion 32 occasional (7.5%) HP:0000232
8 dry skin 32 HP:0000958
9 cirrhosis 32 occasional (7.5%) HP:0001394
10 telecanthus 32 occasional (7.5%) HP:0000506
11 brachydactyly 32 HP:0001156
12 joint laxity 32 HP:0001388
13 sandal gap 32 occasional (7.5%) HP:0001852
14 fine hair 32 HP:0002213
15 peripheral pulmonary artery stenosis 32 occasional (7.5%) HP:0004969
16 sparse hair 32 HP:0008070
17 nephronophthisis 32 HP:0000090
18 broad nail 32 HP:0001821
19 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774
20 syndactyly 32 HP:0001159
21 short nail 32 HP:0001799
22 ectodermal dysplasia 32 HP:0000968
23 hypoplasia of teeth 32 HP:0000685
24 cutis laxa 32 HP:0000973
25 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
26 postaxial polydactyly 32 occasional (7.5%) HP:0100259
27 scaphocephaly 32 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 29 IFT43

Anatomical Context for Cranioectodermal Dysplasia 3

MalaCards organs/tissues related to Cranioectodermal Dysplasia 3:

41
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
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 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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