MCID: CRN110
MIFTS: 24

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 54 24 71 29 13 69
Sensenbrenner Syndrome 3 71
Ced3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 3

OMIM : 54
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 sensenbrenner syndrome 3, and has symptoms including short stature, brachydactyly and micrognathia. 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 4
Cranioectodermal Dysplasia 3

Symptoms & Phenotypes for Cranioectodermal Dysplasia 3

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

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

Skin Nails & Hair- Skin:
dry skin
skin laxity

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

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

Head And Neck- Eyes:
telecanthus (in some patients)

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

Cardiovascular- Vascular:
peripheral pulmonary stenosis (in some patients)

Skin Nails & Hair- Nails:
short, broad nails

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

Head And Neck- Teeth:
hypoplastic teeth
widely spaced teeth

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

Chest- External Features:
narrow thorax

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

Skin Nails & Hair- Hair:
sparse, fine hair

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

Skeletal- Skull:
sagittal suture synostosis (in some patients)


Clinical features from OMIM:

614099

Human phenotypes related to Cranioectodermal Dysplasia 3:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 brachydactyly 32 HP:0001156
3 micrognathia 32 occasional (7.5%) HP:0000347
4 joint laxity 32 HP:0001388
5 sparse hair 32 HP:0008070
6 frontal bossing 32 occasional (7.5%) HP:0002007
7 narrow chest 32 HP:0000774
8 telecanthus 32 occasional (7.5%) HP:0000506
9 macrocephaly 32 occasional (7.5%) HP:0000256
10 cirrhosis 32 occasional (7.5%) HP:0001394
11 dry skin 32 HP:0000958
12 syndactyly 32 HP:0001159
13 widely spaced teeth 32 HP:0000687
14 dolichocephaly 32 occasional (7.5%) HP:0000268
15 fine hair 32 HP:0002213
16 nephronophthisis 32 HP:0000090
17 ectodermal dysplasia 32 HP:0000968
18 cutis laxa 32 HP:0000973
19 peripheral pulmonary artery stenosis 32 occasional (7.5%) HP:0004969
20 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
21 everted lower lip vermilion 32 occasional (7.5%) HP:0000232
22 broad nail 32 HP:0001821
23 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774
24 short nail 32 HP:0001799
25 hypoplasia of teeth 32 HP:0000685

UMLS symptoms related to Cranioectodermal Dysplasia 3:


joint laxity, 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:

id Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 3 29 24 IFT43

Anatomical Context for Cranioectodermal Dysplasia 3

MalaCards organs/tissues related to Cranioectodermal Dysplasia 3:

39
Heart, Skin, Kidney

Publications for Cranioectodermal Dysplasia 3

Variations for Cranioectodermal Dysplasia 3

ClinVar genetic disease variations for Cranioectodermal Dysplasia 3:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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