CED4
MCID: CRN111
MIFTS: 26

Cranioectodermal Dysplasia 4 (CED4)

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

Aliases & Classifications for Cranioectodermal Dysplasia 4

MalaCards integrated aliases for Cranioectodermal Dysplasia 4:

Name: Cranioectodermal Dysplasia 4 58 76 30 13 6 74
Ced4 58 76
Dysplasia, Cranioectodermal, Type 4 41
Sensenbrenner Syndrome 4 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cranioectodermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 4

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

MalaCards based summary : Cranioectodermal Dysplasia 4, is also known as ced4. An important gene associated with Cranioectodermal Dysplasia 4 is WDR19 (WD Repeat Domain 19). Affiliated tissues include heart, skin and bone, and related phenotypes are frontal bossing and smooth philtrum

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cranioectodermal Dysplasia 4:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 occasional (7.5%) HP:0002007
2 smooth philtrum 33 occasional (7.5%) HP:0000319
3 full cheeks 33 occasional (7.5%) HP:0000293
4 bone marrow hypocellularity 33 occasional (7.5%) HP:0005528
5 protruding ear 33 occasional (7.5%) HP:0000411
6 recurrent pneumonia 33 occasional (7.5%) HP:0006532
7 thin vermilion border 33 occasional (7.5%) HP:0000233
8 cutaneous finger syndactyly 33 occasional (7.5%) HP:0010554
9 stage 5 chronic kidney disease 33 occasional (7.5%) HP:0003774
10 sagittal craniosynostosis 33 occasional (7.5%) HP:0004442
11 pectus excavatum 33 HP:0000767
12 hip dysplasia 33 HP:0001385
13 short stature 33 HP:0004322
14 nephropathy 33 HP:0000112
15 narrow chest 33 HP:0000774
16 joint hypermobility 33 HP:0001382
17 rod-cone dystrophy 33 HP:0000510
18 short distal phalanx of finger 33 HP:0009882
19 broad distal phalanx of finger 33 HP:0009836
20 pes valgus 33 HP:0008081
21 ectodermal dysplasia 33 HP:0000968
22 hypermetropia 33 HP:0000540
23 cutis laxa 33 HP:0000973
24 broad phalanx of the toes 33 HP:0010174

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum
short, narrow thorax

Skeletal:
joint hypermobility

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 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

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 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 Ribs Sternum 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

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 30 WDR19

Anatomical Context for Cranioectodermal Dysplasia 4

MalaCards organs/tissues related to Cranioectodermal Dysplasia 4:

42
Heart, Skin, Bone, Bone Marrow, Kidney, Liver, Spleen

Publications for Cranioectodermal Dysplasia 4

Articles related to Cranioectodermal Dysplasia 4:

# Title Authors Year
1
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ( 23683095 )
2013
2
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. ( 22019273 )
2011
3
PYNOD, a novel Apaf-1/CED4-like protein is an inhibitor of ASC and caspase-1. ( 15096476 )
2004
4
Human CARD12 is a novel CED4/Apaf-1 family member that induces apoptosis. ( 11374873 )
2001

Variations for Cranioectodermal Dysplasia 4

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

76
# 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_001317924.1(WDR19): c.1649T> C (p.Leu550Ser) single nucleotide variant Pathogenic rs387906980 GRCh38 Chromosome 4, 39231943: 39231943
3 WDR19 NM_025132.3(WDR19): c.3307C> T (p.Arg1103Ter) single nucleotide variant Pathogenic rs387906981 GRCh37 Chromosome 4, 39269660: 39269660
4 WDR19 NM_025132.3(WDR19): c.3307C> T (p.Arg1103Ter) single nucleotide variant Pathogenic rs387906981 GRCh38 Chromosome 4, 39268040: 39268040

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
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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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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