MCID: CRN109
MIFTS: 28

Cranioectodermal Dysplasia 2

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

Aliases & Classifications for Cranioectodermal Dysplasia 2

MalaCards integrated aliases for Cranioectodermal Dysplasia 2:

Name: Cranioectodermal Dysplasia 2 57 75 29 13 6 73
Ced2 57 75
Dysplasia, Cranioectodermal, Type 2 40
Sensenbrenner Syndrome 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



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 11.1

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

AbdomenSpleen:
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:
joint laxity

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 Feet:
brachydactyly
syndactyly
polydactyly, postaxial

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 all 21)
# 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 inguinal hernia 32 HP:0000023
7 widely spaced teeth 32 HP:0000687
8 narrow chest 32 HP:0000774
9 dolichocephaly 32 HP:0000268
10 everted lower lip vermilion 32 HP:0000232
11 microdontia 32 HP:0000691
12 abnormality of the pinna 32 HP:0000377
13 telecanthus 32 HP:0000506
14 rhizomelia 32 HP:0008905
15 brachydactyly 32 HP:0001156
16 joint laxity 32 HP:0001388
17 blepharophimosis 32 HP:0000581
18 craniosynostosis 32 HP:0001363
19 sparse hair 32 HP:0008070
20 syndactyly 32 HP:0001159
21 ectodermal dysplasia 32 HP:0000968

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, Testes, 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 58)
# 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.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh37 Chromosome 2, 20137622: 20137622
20 WDR35 NM_001006657.1(WDR35): c.2182A> G (p.Ile728Val) single nucleotide variant Benign/Likely benign rs144493712 GRCh38 Chromosome 2, 19937861: 19937861
21 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh37 Chromosome 2, 20173436: 20173436
22 WDR35 NM_001006657.1(WDR35): c.770T> C (p.Val257Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs142955097 GRCh38 Chromosome 2, 19973675: 19973675
23 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh37 Chromosome 2, 20137705: 20137705
24 WDR35 NM_001006657.1(WDR35): c.2099G> A (p.Arg700His) single nucleotide variant Conflicting interpretations of pathogenicity rs74470618 GRCh38 Chromosome 2, 19937944: 19937944
25 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh37 Chromosome 2, 20130280: 20130280
26 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh38 Chromosome 2, 19930519: 19930519
27 WDR35 NM_001006657.1(WDR35): c.1288+1G> A single nucleotide variant Pathogenic rs371669862 GRCh37 Chromosome 2, 20160314: 20160314
28 WDR35 NM_001006657.1(WDR35): c.1288+1G> A single nucleotide variant Pathogenic rs371669862 GRCh38 Chromosome 2, 19960553: 19960553
29 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh37 Chromosome 2, 20151178: 20151178
30 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh38 Chromosome 2, 19951417: 19951417
31 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh38 Chromosome 2, 19975551: 19975551
32 WDR35 NM_001006657.1(WDR35): c.549C> T (p.Tyr183=) single nucleotide variant Benign/Likely benign rs34169020 GRCh37 Chromosome 2, 20175312: 20175312
33 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh38 Chromosome 2, 19982471: 19982471
34 WDR35 NM_001006657.1(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 GRCh37 Chromosome 2, 20182232: 20182232
35 WDR35 NM_001006657.1(WDR35): c.1415G> A (p.Arg472Gln) single nucleotide variant Likely pathogenic rs200140363 GRCh38 Chromosome 2, 19953852: 19953852
36 WDR35 NM_001006657.1(WDR35): c.1415G> A (p.Arg472Gln) single nucleotide variant Likely pathogenic rs200140363 GRCh37 Chromosome 2, 20153613: 20153613
37 SPAG17 NM_206996.3(SPAG17): c.1069G> C (p.Asp357His) single nucleotide variant Likely pathogenic rs183758503 GRCh37 Chromosome 1, 118635883: 118635883
38 SPAG17 NM_206996.3(SPAG17): c.1069G> C (p.Asp357His) single nucleotide variant Likely pathogenic rs183758503 GRCh38 Chromosome 1, 118093260: 118093260
39 WDR35 NM_001006657.1(WDR35): c.3203A> G (p.Tyr1068Cys) single nucleotide variant Likely pathogenic rs541910371 GRCh37 Chromosome 2, 20113990: 20113990
40 WDR35 NM_001006657.1(WDR35): c.3203A> G (p.Tyr1068Cys) single nucleotide variant Likely pathogenic rs541910371 GRCh38 Chromosome 2, 19914229: 19914229
41 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh38 Chromosome 2, 19941837: 19941869
42 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh37 Chromosome 2, 20141598: 20141630
43 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh38 Chromosome 2, 19960561: 19960561
44 WDR35 NM_001006657.1(WDR35): c.1281T> G (p.Ile427Met) single nucleotide variant Likely benign rs144701688 GRCh37 Chromosome 2, 20160322: 20160322
45 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh37 Chromosome 2, 20174299: 20174299
46 WDR35 NM_001006657.1(WDR35): c.666T> A (p.Pro222=) single nucleotide variant Likely benign rs987346249 GRCh38 Chromosome 2, 19974538: 19974538
47 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 20174301: 20174301
48 WDR35 NM_001006657.1(WDR35): c.664C> G (p.Pro222Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 19974540: 19974540
49 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh38 Chromosome 2, 19945876: 19945876
50 WDR35 NM_001006657.1(WDR35): c.1788C> T (p.Val596=) single nucleotide variant Benign rs146130105 GRCh37 Chromosome 2, 20145637: 20145637

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 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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