MCID: CRN111
MIFTS: 24

Cranioectodermal Dysplasia 4

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

Aliases & Classifications for Cranioectodermal Dysplasia 4

MalaCards integrated aliases for Cranioectodermal Dysplasia 4:

Name: Cranioectodermal Dysplasia 4 53 71 28 13 69
Ced4 53 71
Sensenbrenner Syndrome 4 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 4

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 a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330). (614378)

MalaCards based summary : Cranioectodermal Dysplasia 4, is also known as ced4, and has symptoms including pectus excavatum, frontal bossing and hip dysplasia. An important gene associated with Cranioectodermal Dysplasia 4 is WDR19 (WD Repeat Domain 19). Affiliated tissues include heart, skin and bone.

UniProtKB/Swiss-Prot : 71 Cranioectodermal dysplasia 4: 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 4

Diseases in the Cranioectodermal Dysplasia 1 family:

Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 4

Symptoms & Phenotypes for Cranioectodermal Dysplasia 4

Symptoms via clinical synopsis from OMIM:

53
Chest External Features:
pectus excavatum
short, narrow thorax

Skeletal:
joint hypermobility

Skeletal Feet:
pes valgus
short, broad phalanges
small second through fifth toes (in some patients)

Head And Neck Ears:
protruding ears (in some patients)

Head And Neck Nose:
smooth philtrum (in some patients)

Head And Neck Teeth:
atypical cusps on maxillary first molars, mandibular first premolars, and canines
bony protrusion of hard palate (in some patients)
taurodontism of molars (in some patients)

Respiratory Lung:
recurrent pneumonia (in some patients)
reduced lung capacity

Abdomen Liver:
palpable liver

Genitourinary Kidneys:
nephronophthisis-like nephropathy
renal failure, endstage (in some patients)

Skeletal Pelvis:
hip dysplasia, bilateral

Skin Nails Hair Nails:
thick nails (in some patients)

Growth Height:
short stature

Head And Neck Eyes:
hypermetropia
retinitis pigmentosa with preserved central vision
nyctalopia, congenital (in some patients)

Skeletal Hands:
cutaneous syndactyly (in some patients)
short and broad distal phalanges
short second and fifth phalanges

Head And Neck Head:
frontal bossing (in some patients)
full cheeks (in some patients)

Head And Neck Mouth:
thin lips (in some patients)

Respiratory Airways:
recurrent asthma (in some patients)

Chest RibsSternum Clavicles And Scapulae:
short, thick ribs

Abdomen Spleen:
palpable spleen

Skeletal Skull:
craniosynostosis, sagittal (in some patients)

Skin Nails Hair Skin:
lax skin

Laboratory Abnormalities:
bone marrow hypoplasia (in some patients)


Clinical features from OMIM:

614378

Human phenotypes related to Cranioectodermal Dysplasia 4:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 HP:0000767
2 frontal bossing 31 occasional (7.5%) HP:0002007
3 hip dysplasia 31 HP:0001385
4 smooth philtrum 31 occasional (7.5%) HP:0000319
5 short stature 31 HP:0004322
6 nephropathy 31 HP:0000112
7 full cheeks 31 occasional (7.5%) HP:0000293
8 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
9 narrow chest 31 HP:0000774
10 protruding ear 31 occasional (7.5%) HP:0000411
11 joint hypermobility 31 HP:0001382
12 recurrent pneumonia 31 occasional (7.5%) HP:0006532
13 thin vermilion border 31 occasional (7.5%) HP:0000233
14 short distal phalanx of finger 31 HP:0009882
15 cutaneous finger syndactyly 31 occasional (7.5%) HP:0010554
16 rod-cone dystrophy 31 HP:0000510
17 broad distal phalanx of finger 31 HP:0009836
18 stage 5 chronic kidney disease 31 occasional (7.5%) HP:0003774
19 ectodermal dysplasia 31 HP:0000968
20 hypermetropia 31 HP:0000540
21 cutis laxa 31 HP:0000973
22 sagittal craniosynostosis 31 occasional (7.5%) HP:0004442
23 pes valgus 31 HP:0008081
24 broad phalanx of the toes 31 HP:0010174

Drugs & Therapeutics for Cranioectodermal Dysplasia 4

Search Clinical Trials , NIH Clinical Center for Cranioectodermal Dysplasia 4

Genetic Tests for Cranioectodermal Dysplasia 4

Genetic tests related to Cranioectodermal Dysplasia 4:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 4 28 WDR19

Anatomical Context for Cranioectodermal Dysplasia 4

MalaCards organs/tissues related to Cranioectodermal Dysplasia 4:

38
Heart, Skin, Bone, Bone Marrow, Lung, Kidney, Spleen

Publications for Cranioectodermal Dysplasia 4

Variations for Cranioectodermal Dysplasia 4

UniProtKB/Swiss-Prot genetic disease variations for Cranioectodermal Dysplasia 4:

71
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu710Ser VAR_067314 rs387906980

ClinVar genetic disease variations for Cranioectodermal Dysplasia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR19 NM_001317924.1(WDR19): c.1649T> C (p.Leu550Ser) single nucleotide variant Pathogenic rs387906980 GRCh37 Chromosome 4, 39233563: 39233563
2 WDR19 NM_025132.3(WDR19): c.3307C> T (p.Arg1103Ter) single nucleotide variant Pathogenic rs387906981 GRCh37 Chromosome 4, 39269660: 39269660

Expression for Cranioectodermal Dysplasia 4

Search GEO for disease gene expression data for Cranioectodermal Dysplasia 4.

Pathways for Cranioectodermal Dysplasia 4

GO Terms for Cranioectodermal Dysplasia 4

Sources for Cranioectodermal Dysplasia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 MedGen
41 MeSH
42 MESH via Orphanet
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50 NINDS
51 Novoseek
53 OMIM
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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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