CED2
MCID: CRN109
MIFTS: 31

Cranioectodermal Dysplasia 2 (CED2)

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

Aliases & Classifications for Cranioectodermal Dysplasia 2

Summaries for Cranioectodermal Dysplasia 2

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 a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (218330). (613610)

MalaCards based summary : Cranioectodermal Dysplasia 2, also known as ced2, is related to camurati-engelmann disease, type 2. An important gene associated with Cranioectodermal Dysplasia 2 is WDR35 (WD Repeat Domain 35). Affiliated tissues include heart, skin and liver, and related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 Cranioectodermal dysplasia 2: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.

Related Diseases for Cranioectodermal Dysplasia 2

Diseases in the Cranioectodermal Dysplasia 1 family:

Cranioectodermal Dysplasia 2 Cranioectodermal Dysplasia 3
Cranioectodermal Dysplasia 4

Diseases related to Cranioectodermal Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease, type 2 11.3

Symptoms & Phenotypes for Cranioectodermal Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus
sparse eyelashes
epicanthal folds
upslanting palpebral fissures
more
Head And Neck Neck:
short neck
cystic hygroma

Skeletal Hands:
clinodactyly
brachydactyly
syndactyly
polydactyly

Muscle Soft Tissue:
inguinal hernia

Abdomen Spleen:
splenomegaly
accessory spleens

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge

Skeletal Skull:
cloverleaf skull
craniosynostosis
metopic synostosis
sagittal synostosis
coronal synostosis, unilateral
more
Cardiovascular Heart:
patent ductus arteriosus
atrial septal defect
left ventricular hypertrophy
patent foramen ovale
small aortic isthmus
more
Prenatal Manifestations Amniotic Fluid:
hydrops fetalis
polyhydramnios

Skeletal Feet:
brachydactyly
syndactyly
polydactyly, postaxial

Head And Neck Mouth:
high-arched palate
cleft palate (in some patients)
everted lower lip

Skeletal Limbs:
rhizomelic limb shortening
mesomelic limb shortening

Chest Ribs Sternum Clavicles And Scapulae:
horizontal ribs
pectus excavatum short ribs

Head And Neck Ears:
low-set ears
simple ears

Head And Neck Face:
frontal bossing
full cheeks
micrognathia
retrognathia
broad philtrum
more
Cardiovascular Vascular:
hypertension

Head And Neck Teeth:
widely spaced teeth
small teeth
dental fusion
missing multiple permanent teeth

Abdomen Liver:
hepatomegaly
biliary cirrhosis
cholestasis
abnormal liver function tests
hyperbilirubinemia, conjugated
more
Growth Height:
short stature

Chest External Features:
narrow chest

Head And Neck Head:
dolichocephaly
plagiocephaly

Skeletal:
joint laxity

Skin Nails Hair Hair:
sparse hair
sparse eyelashes
sparse eyebrows
skin laxity

Genitourinary Kidneys:
renal cysts
renal failure
renal tubular acidosis, type 1 distal
increased cortical echogenicity

Neurologic Central Nervous System:
developmental delay (in some patients)

Abdomen External Features:
inguinal hernia, bilateral


Clinical features from OMIM:

613610

Human phenotypes related to Cranioectodermal Dysplasia 2:

32 (show top 50) (show all 66)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 pectus excavatum 32 HP:0000767
5 frontal bossing 32 HP:0002007
6 clinodactyly 32 HP:0030084
7 high palate 32 HP:0000218
8 inguinal hernia 32 HP:0000023
9 widely spaced teeth 32 HP:0000687
10 splenomegaly 32 HP:0001744
11 hepatomegaly 32 HP:0002240
12 depressed nasal bridge 32 HP:0005280
13 wide nasal bridge 32 HP:0000431
14 smooth philtrum 32 HP:0000319
15 renal insufficiency 32 HP:0000083
16 full cheeks 32 HP:0000293
17 cleft palate 32 very rare (1%) HP:0000175
18 micrognathia 32 HP:0000347
19 cloverleaf skull 32 HP:0002676
20 retrognathia 32 HP:0000278
21 narrow chest 32 HP:0000774
22 patent ductus arteriosus 32 HP:0001643
23 epicanthus 32 HP:0000286
24 dolichocephaly 32 HP:0000268
25 everted lower lip vermilion 32 HP:0000232
26 microdontia 32 HP:0000691
27 hydrops fetalis 32 HP:0001789
28 cystic hygroma 32 HP:0000476
29 biliary cirrhosis 32 HP:0002613
30 abnormality of the pinna 32 HP:0000377
31 joint laxity 32 HP:0001388
32 telecanthus 32 HP:0000506
33 rhizomelia 32 HP:0008905
34 left ventricular hypertrophy 32 HP:0001712
35 upslanted palpebral fissure 32 HP:0000582
36 brachydactyly 32 HP:0001156
37 polyhydramnios 32 HP:0001561
38 cholestasis 32 HP:0001396
39 high forehead 32 HP:0000348
40 blepharophimosis 32 HP:0000581
41 midface retrusion 32 HP:0011800
42 craniosynostosis 32 HP:0001363
43 hyperbilirubinemia 32 HP:0002904
44 plagiocephaly 32 HP:0001357
45 sparse hair 32 HP:0008070
46 postaxial hand polydactyly 32 HP:0001162
47 broad philtrum 32 HP:0000289
48 acidosis 32 HP:0001941
49 sparse eyebrow 32 HP:0045075
50 renal cyst 32 HP:0000107

Drugs & Therapeutics for Cranioectodermal Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Cranioectodermal Dysplasia 2

Genetic Tests for Cranioectodermal Dysplasia 2

Genetic tests related to Cranioectodermal Dysplasia 2:

# Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 2 29 WDR35

Anatomical Context for Cranioectodermal Dysplasia 2

MalaCards organs/tissues related to Cranioectodermal Dysplasia 2:

41
Heart, Skin, Liver, Bone, Testes, Eye, Spleen

Publications for Cranioectodermal Dysplasia 2

Variations for Cranioectodermal Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Cranioectodermal Dysplasia 2:

75
# Symbol AA change Variation ID SNP ID
1 WDR35 p.Glu626Gly VAR_064581 rs267607174
2 WDR35 p.Ala875Thr VAR_064582 rs267607175

ClinVar genetic disease variations for Cranioectodermal Dysplasia 2:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR35 NM_001006657.1(WDR35): c.25-2A> G single nucleotide variant Pathogenic rs397515534 GRCh37 Chromosome 2, 20189045: 20189045
2 WDR35 NM_001006657.1(WDR35): c.25-2A> G single nucleotide variant Pathogenic rs397515534 GRCh38 Chromosome 2, 19989284: 19989284
3 WDR35 NM_001006657.1(WDR35): c.1877A> G (p.Glu626Gly) single nucleotide variant Pathogenic rs267607174 GRCh37 Chromosome 2, 20145548: 20145548
4 WDR35 NM_001006657.1(WDR35): c.1877A> G (p.Glu626Gly) single nucleotide variant Pathogenic rs267607174 GRCh38 Chromosome 2, 19945787: 19945787
5 WDR35 NM_001006657.1(WDR35): c.2891delC (p.Pro964Leufs) deletion Pathogenic rs397515334 GRCh37 Chromosome 2, 20131136: 20131136
6 WDR35 NM_001006657.1(WDR35): c.2891delC (p.Pro964Leufs) deletion Pathogenic rs397515334 GRCh38 Chromosome 2, 19931375: 19931375
7 WDR35 NM_001006657.1(WDR35): c.2623G> A (p.Ala875Thr) single nucleotide variant Likely pathogenic rs267607175 GRCh37 Chromosome 2, 20133230: 20133230
8 WDR35 NM_001006657.1(WDR35): c.2623G> A (p.Ala875Thr) single nucleotide variant Likely pathogenic rs267607175 GRCh38 Chromosome 2, 19933469: 19933469
9 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
10 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh38 Chromosome 2, 19941796: 19941796
11 WDR35 NM_001006657.1(WDR35): c.1592T> C (p.Leu531Pro) single nucleotide variant Pathogenic rs397515533 GRCh37 Chromosome 2, 20146297: 20146297
12 WDR35 NM_001006657.1(WDR35): c.1592T> C (p.Leu531Pro) single nucleotide variant Pathogenic rs397515533 GRCh38 Chromosome 2, 19946536: 19946536
13 WDR35 NM_001006657.1(WDR35): c.25-2A> C single nucleotide variant Pathogenic rs397515534 GRCh37 Chromosome 2, 20189045: 20189045
14 WDR35 NM_001006657.1(WDR35): c.25-2A> C single nucleotide variant Pathogenic rs397515534 GRCh38 Chromosome 2, 19989284: 19989284
15 WDR35 NM_001006657.1(WDR35): c.2912A> G (p.Tyr971Cys) single nucleotide variant Pathogenic rs397515535 GRCh37 Chromosome 2, 20131115: 20131115
16 WDR35 NM_001006657.1(WDR35): c.2912A> G (p.Tyr971Cys) single nucleotide variant Pathogenic rs397515535 GRCh38 Chromosome 2, 19931354: 19931354
17 WDR35 NM_001006657.1(WDR35): c.504T> A (p.Ser168Arg) single nucleotide variant Pathogenic rs397515536 GRCh37 Chromosome 2, 20175357: 20175357
18 WDR35 NM_001006657.1(WDR35): c.504T> A (p.Ser168Arg) single nucleotide variant Pathogenic rs397515536 GRCh38 Chromosome 2, 19975596: 19975596
19 WDR35 NM_001006657.1(WDR35): c.2599G> T (p.Val867Phe) single nucleotide variant Benign/Likely benign rs149667250 GRCh37 Chromosome 2, 20133254: 20133254
20 WDR35 NM_001006657.1(WDR35): c.2599G> T (p.Val867Phe) single nucleotide variant Benign/Likely benign rs149667250 GRCh38 Chromosome 2, 19933493: 19933493
21 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
22 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
23 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
24 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
25 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh37 Chromosome 2, 20137705: 20137705
26 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh38 Chromosome 2, 19937944: 19937944
27 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh37 Chromosome 2, 20130280: 20130280
28 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh38 Chromosome 2, 19930519: 19930519
29 WDR35 NM_001006657.1(WDR35): c.1288+1G> A single nucleotide variant Pathogenic rs371669862 GRCh37 Chromosome 2, 20160314: 20160314
30 WDR35 NM_001006657.1(WDR35): c.1288+1G> A single nucleotide variant Pathogenic rs371669862 GRCh38 Chromosome 2, 19960553: 19960553
31 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh37 Chromosome 2, 20151178: 20151178
32 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh38 Chromosome 2, 19951417: 19951417
33 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh38 Chromosome 2, 19975551: 19975551
34 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh37 Chromosome 2, 20175312: 20175312
35 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh38 Chromosome 2, 19982471: 19982471
36 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh37 Chromosome 2, 20182232: 20182232
37 WDR35 NM_001006657.1(WDR35): c.1415G> A (p.Arg472Gln) single nucleotide variant Likely pathogenic rs200140363 GRCh37 Chromosome 2, 20153613: 20153613
38 WDR35 NM_001006657.1(WDR35): c.1415G> A (p.Arg472Gln) single nucleotide variant Likely pathogenic rs200140363 GRCh38 Chromosome 2, 19953852: 19953852
39 SPAG17 NM_206996.3(SPAG17): c.1069G> C (p.Asp357His) single nucleotide variant Likely pathogenic rs183758503 GRCh37 Chromosome 1, 118635883: 118635883
40 SPAG17 NM_206996.3(SPAG17): c.1069G> C (p.Asp357His) single nucleotide variant Likely pathogenic rs183758503 GRCh38 Chromosome 1, 118093260: 118093260
41 WDR35 NM_001006657.1(WDR35): c.3203A> G (p.Tyr1068Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs541910371 GRCh37 Chromosome 2, 20113990: 20113990
42 WDR35 NM_001006657.1(WDR35): c.3203A> G (p.Tyr1068Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs541910371 GRCh38 Chromosome 2, 19914229: 19914229
43 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh37 Chromosome 2, 20141598: 20141630
44 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh38 Chromosome 2, 19941837: 19941869
45 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh37 Chromosome 2, 20160322: 20160322
46 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh38 Chromosome 2, 19960561: 19960561
47 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh37 Chromosome 2, 20174299: 20174299
48 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh38 Chromosome 2, 19974538: 19974538
49 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 20174301: 20174301
50 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 19974540: 19974540

Expression for Cranioectodermal Dysplasia 2

Search GEO for disease gene expression data for Cranioectodermal Dysplasia 2.

Pathways for Cranioectodermal Dysplasia 2

GO Terms for Cranioectodermal Dysplasia 2

Cellular components related to Cranioectodermal Dysplasia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 SPAG17 WDR35
2 cilium GO:0005929 8.62 SPAG17 WDR35

Biological processes related to Cranioectodermal Dysplasia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 8.62 SPAG17 WDR35

Sources for Cranioectodermal Dysplasia 2

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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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