CED4
MCID: CRN111
MIFTS: 31

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 56 73 29 13 6 71
Ced4 56 73
Dysplasia, Cranioectodermal, Type 4 39
Sensenbrenner Syndrome 4 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 4

OMIM : 56 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 marrow, and related phenotypes are smooth philtrum and full cheeks

UniProtKB/Swiss-Prot : 73 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:

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

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Skeletal:
joint hypermobility

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

Chest External Features:
pectus excavatum
short, narrow thorax

Head And Neck Eyes:
hypermetropia
retinitis pigmentosa with preserved central vision
nyctalopia, congenital (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 29 WDR19

Anatomical Context for Cranioectodermal Dysplasia 4

MalaCards organs/tissues related to Cranioectodermal Dysplasia 4:

40
Heart, Skin, Bone Marrow, Bone, Spleen, Kidney, Liver

Publications for Cranioectodermal Dysplasia 4

Articles related to Cranioectodermal Dysplasia 4:

(show all 23)
# Title Authors PMID Year
1
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6 56
22019273 2011
2
Cranioectodermal Dysplasia 6
24027799 2013
3
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 6
23683095 2013
4
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. 56
21378380 2011
5
A semi-dominant mutation in a CC-NB-LRR-type protein leads to a short-root phenotype in rice. 61
30284062 2018
6
Evolution of a complex disease resistance gene cluster in diploid Phaseolus and tetraploid Glycine. 61
22457424 2012
7
Positive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients. 61
17380155 2007
8
The apical caspase dronc governs programmed and unprogrammed cell death in Drosophila. 61
15572131 2004
9
STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer. 61
15381417 2004
10
PYNOD, a novel Apaf-1/CED4-like protein is an inhibitor of ASC and caspase-1. 61
15096476 2004
11
Coupling of caspase-9 to Apaf1 in response to loss of pRb or cytotoxic drugs is cell-type-specific. 61
14713951 2004
12
CARD4/NOD1 is not involved in inflammatory bowel disease. 61
12477763 2003
13
The regulation of APAF1 expression during development and tumourigenesis. 61
11865201 2002
14
Identification of ter94, Drosophila VCP, as a modulator of polyglutamine-induced neurodegeneration. 61
11859409 2002
15
A positive feedback mechanism in the transcriptional activation of Apaf-1 by p53 and the coactivator Zac-1. 61
11896574 2002
16
Three-dimensional structure of the apoptosome: implications for assembly, procaspase-9 binding, and activation. 61
11864614 2002
17
Human CARD12 is a novel CED4/Apaf-1 family member that induces apoptosis. 61
11374873 2001
18
A novel enhancer of the Apaf1 apoptosome involved in cytochrome c-dependent caspase activation and apoptosis. 61
11113115 2001
19
Six amino acid changes confined to the leucine-rich repeat beta-strand/beta-turn motif determine the difference between the P and P2 rust resistance specificities in flax. 61
11158537 2001
20
ATP-activated oligomerization as a mechanism for apoptosis regulation: fold and mechanism prediction for CED-4. 61
10737940 2000
21
Hsp27 functions as a negative regulator of cytochrome c-dependent activation of procaspase-3. 61
10803458 2000
22
Conservation and Evolution of the "Core Apoptotic Engine" Lesson from the Genome Comparison of Drosophila. 61
12058178 2000
23
Protein sequence similarity searches using patterns as seeds. 61
9705509 1998

Variations for Cranioectodermal Dysplasia 4

ClinVar genetic disease variations for Cranioectodermal Dysplasia 4:

6 (show top 50) (show all 86) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR19 NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)SNV Pathogenic 30703 rs387906980 4:39233563-39233563 4:39231943-39231943
2 WDR19 NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)SNV Pathogenic 30704 rs387906981 4:39269660-39269660 4:39268040-39268040
3 WDR19 NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)SNV Conflicting interpretations of pathogenicity 167843 rs187546086 4:39254828-39254828 4:39253208-39253208
4 WDR19 NM_025132.4(WDR19):c.3918-6A>CSNV Conflicting interpretations of pathogenicity 252748 rs199546190 4:39280153-39280153 4:39278533-39278533
5 WDR19 NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)SNV Conflicting interpretations of pathogenicity 423393 rs201963605 4:39246135-39246135 4:39244515-39244515
6 WDR19 NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)SNV Conflicting interpretations of pathogenicity 437272 rs201354264 4:39257474-39257474 4:39255854-39255854
7 WDR19 NM_025132.4(WDR19):c.2577G>A (p.Ala859=)SNV Conflicting interpretations of pathogenicity 618489 rs753596825 4:39246104-39246104 4:39244484-39244484
8 WDR19 NM_025132.4(WDR19):c.1566C>T (p.Pro522=)SNV Conflicting interpretations of pathogenicity 771796 4:39226590-39226590 4:39224970-39224970
9 WDR19 NM_025132.4(WDR19):c.1198C>T (p.Leu400=)SNV Conflicting interpretations of pathogenicity 261856 rs199765304 4:39217779-39217779 4:39216159-39216159
10 WDR19 NM_025132.4(WDR19):c.1775A>G (p.Gln592Arg)SNV Conflicting interpretations of pathogenicity 798149 4:39229975-39229975 4:39228355-39228355
11 WDR19 NM_025132.4(WDR19):c.2361C>T (p.Phe787=)SNV Conflicting interpretations of pathogenicity 287684 rs200133722 4:39236493-39236493 4:39234873-39234873
12 WDR19 NM_025132.4(WDR19):c.1357-7G>ASNV Conflicting interpretations of pathogenicity 348735 rs377101599 4:39219596-39219596 4:39217976-39217976
13 WDR19 NM_025132.4(WDR19):c.1839A>G (p.Leu613=)SNV Conflicting interpretations of pathogenicity 348738 rs201320006 4:39230167-39230167 4:39228547-39228547
14 WDR19 NM_025132.4(WDR19):c.6+5A>GSNV Conflicting interpretations of pathogenicity 348723 rs201198839 4:39184188-39184188 4:39182568-39182568
15 WDR19 NM_025132.4(WDR19):c.3667C>T (p.Arg1223Cys)SNV Conflicting interpretations of pathogenicity 348754 rs201597047 4:39276529-39276529 4:39274909-39274909
16 WDR19 NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile)SNV Uncertain significance 348756 rs886059403 4:39278698-39278698 4:39277078-39277078
17 WDR19 NM_025132.4(WDR19):c.13+14C>TSNV Uncertain significance 348757 rs758352852 4:39280297-39280297 4:39278677-39278677
18 WDR19 NM_025132.4(WDR19):c.*184T>GSNV Uncertain significance 348761 rs886059405 4:39287277-39287277 4:39285657-39285657
19 WDR19 NM_025132.4(WDR19):c.523-3T>CSNV Uncertain significance 348725 rs747603843 4:39205259-39205259 4:39203639-39203639
20 WDR19 NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys)SNV Uncertain significance 348736 rs201148758 4:39219636-39219636 4:39218016-39218016
21 WDR19 NM_025132.4(WDR19):c.1932G>A (p.Thr644=)SNV Uncertain significance 348739 rs886059398 4:39230260-39230260 4:39228640-39228640
22 WDR19 NM_025132.4(WDR19):c.750A>T (p.Ser250=)SNV Uncertain significance 348726 rs886059395 4:39207216-39207216 4:39205596-39205596
23 WDR19 NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys)SNV Uncertain significance 348727 rs199783864 4:39216259-39216259 4:39214639-39214639
24 WDR19 NM_025132.4(WDR19):c.2364-15T>CSNV Uncertain significance 348742 rs771036360 4:39241882-39241882 4:39240262-39240262
25 WDR19 NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe)SNV Uncertain significance 348744 rs780963454 4:39254818-39254818 4:39253198-39253198
26 WDR19 NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala)SNV Uncertain significance 348745 rs199678654 4:39257482-39257482 4:39255862-39255862
27 WDR19 NM_025132.4(WDR19):c.3283T>C (p.Leu1095=)SNV Uncertain significance 348748 rs769329045 4:39269636-39269636 4:39268016-39268016
28 WDR19 NM_025132.4(WDR19):c.2218T>C (p.Tyr740His)SNV Uncertain significance 348741 rs886059399 4:39233857-39233857 4:39232237-39232237
29 WDR19 NM_025132.4(WDR19):c.3249T>C (p.Asp1083=)SNV Uncertain significance 348747 rs371128500 4:39267748-39267748 4:39266128-39266128
30 WDR19 NM_025132.4(WDR19):c.3602G>A (p.Cys1201Tyr)SNV Uncertain significance 348753 rs886059402 4:39276464-39276464 4:39274844-39274844
31 WDR19 NM_025132.4(WDR19):c.*131C>TSNV Uncertain significance 348759 rs886059404 4:39287224-39287224 4:39285604-39285604
32 WDR19 NM_025132.4(WDR19):c.*152G>ASNV Uncertain significance 348760 rs533059483 4:39287245-39287245 4:39285625-39285625
33 WDR19 NM_025132.4(WDR19):c.198A>T (p.Gly66=)SNV Uncertain significance 348724 rs749815295 4:39191309-39191309 4:39189689-39189689
34 WDR19 NM_025132.4(WDR19):c.935T>C (p.Ile312Thr)SNV Uncertain significance 348728 rs886059396 4:39216265-39216265 4:39214645-39214645
35 WDR19 NM_025132.4(WDR19):c.2429A>G (p.Asp810Gly)SNV Uncertain significance 348743 rs886059400 4:39245875-39245875 4:39244255-39244255
36 WDR19 NM_025132.4(WDR19):c.3358+15C>TSNV Uncertain significance 348749 rs750722358 4:39269726-39269726 4:39268106-39268106
37 WDR19 NM_025132.4(WDR19):c.3439A>G (p.Met1147Val)SNV Uncertain significance 348752 rs886059401 4:39271676-39271676 4:39270056-39270056
38 WDR19 NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)SNV Uncertain significance 348729 rs192495145 4:39217563-39217563 4:39215943-39215943
39 WDR19 NM_025132.4(WDR19):c.1173C>T (p.Asn391=)SNV Uncertain significance 348731 rs777985189 4:39217754-39217754 4:39216134-39216134
40 WDR19 NM_025132.4(WDR19):c.1293C>T (p.Ala431=)SNV Uncertain significance 348734 rs886059397 4:39218797-39218797 4:39217177-39217177
41 WDR19 NM_025132.4(WDR19):c.2329A>G (p.Ile777Val)SNV Uncertain significance 809632 4:39236461-39236461 4:39234841-39234841
42 WDR19 NM_025132.4(WDR19):c.490G>A (p.Val164Ile)SNV Uncertain significance 811687 4:39201181-39201181 4:39199561-39199561
43 WDR19 NM_025132.4(WDR19):c.128G>A (p.Arg43His)SNV Uncertain significance 902352 4:39188188-39188188 4:39186568-39186568
44 WDR19 NM_025132.4(WDR19):c.171T>C (p.Cys57=)SNV Uncertain significance 902353 4:39191282-39191282 4:39189662-39189662
45 WDR19 NM_025132.4(WDR19):c.479A>G (p.Lys160Arg)SNV Uncertain significance 903214 4:39201170-39201170 4:39199550-39199550
46 WDR19 NM_025132.4(WDR19):c.689A>C (p.Asp230Ala)SNV Uncertain significance 899609 4:39206859-39206859 4:39205239-39205239
47 WDR19 NM_025132.4(WDR19):c.778C>T (p.His260Tyr)SNV Uncertain significance 899610 4:39207244-39207244 4:39205624-39205624
48 WDR19 NM_025132.4(WDR19):c.822T>C (p.His274=)SNV Uncertain significance 899611 4:39207288-39207288 4:39205668-39205668
49 WDR19 NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr)SNV Uncertain significance 899680 4:39229839-39229839 4:39228219-39228219
50 WDR19 NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu)SNV Uncertain significance 900817 4:39229975-39229975 4:39228355-39228355

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

73
# Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu710Ser VAR_067314 rs387906980

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....