MCID: CRN109
MIFTS: 25

Cranioectodermal Dysplasia 2

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

Aliases & Classifications for Cranioectodermal Dysplasia 2

MalaCards integrated aliases for Cranioectodermal Dysplasia 2:

Name: Cranioectodermal Dysplasia 2 53 71 28 13 69
Ced2 53 71
Sensenbrenner Syndrome 2 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
cranioectodermal dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 2

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). (613610)

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

UniProtKB/Swiss-Prot : 71 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:

53
Skeletal:
joint laxity

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

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

Skeletal Limbs:
rhizomelic limb shortening
mesomelic limb shortening

Chest RibsSternum Clavicles And Scapulae:
horizontal ribs
pectus excavatum short ribs

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

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:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 joint laxity 31 HP:0001388
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 short neck 31 HP:0000470
5 pectus excavatum 31 HP:0000767
6 frontal bossing 31 HP:0002007
7 inguinal hernia 31 HP:0000023
8 widely spaced teeth 31 HP:0000687
9 narrow chest 31 HP:0000774
10 dolichocephaly 31 HP:0000268
11 everted lower lip vermilion 31 HP:0000232
12 microdontia 31 HP:0000691
13 abnormality of the pinna 31 HP:0000377
14 telecanthus 31 HP:0000506
15 rhizomelia 31 HP:0008905
16 brachydactyly 31 HP:0001156
17 blepharophimosis 31 HP:0000581
18 craniosynostosis 31 HP:0001363
19 sparse hair 31 HP:0008070
20 syndactyly 31 HP:0001159
21 ectodermal dysplasia 31 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 28 WDR35

Anatomical Context for Cranioectodermal Dysplasia 2

MalaCards organs/tissues related to Cranioectodermal Dysplasia 2:

38
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:

71
# 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 all 15)
# 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.1877A> G (p.Glu626Gly) single nucleotide variant Pathogenic rs267607174 GRCh37 Chromosome 2, 20145548: 20145548
3 WDR35 NM_001006657.1(WDR35): c.2891delC (p.Pro964Leufs) deletion Pathogenic rs397515334 GRCh37 Chromosome 2, 20131136: 20131136
4 WDR35 NM_001006657.1(WDR35): c.2623G> A (p.Ala875Thr) single nucleotide variant Pathogenic/Likely pathogenic rs267607175 GRCh37 Chromosome 2, 20133230: 20133230
5 WDR35 NM_001006657.1(WDR35): c.1922T> G (p.Leu641Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199952377 GRCh37 Chromosome 2, 20141557: 20141557
6 WDR35 NM_001006657.1(WDR35): c.1592T> C (p.Leu531Pro) single nucleotide variant Pathogenic rs397515533 GRCh37 Chromosome 2, 20146297: 20146297
7 WDR35 NM_001006657.1(WDR35): c.25-2A> C single nucleotide variant Pathogenic rs397515534 GRCh37 Chromosome 2, 20189045: 20189045
8 WDR35 NM_001006657.1(WDR35): c.2912A> G (p.Tyr971Cys) single nucleotide variant Pathogenic rs397515535 GRCh37 Chromosome 2, 20131115: 20131115
9 WDR35 NM_001006657.1(WDR35): c.504T> A (p.Ser168Arg) single nucleotide variant Pathogenic rs397515536 GRCh37 Chromosome 2, 20175357: 20175357
10 WDR35 NM_001006657.1(WDR35): c.3031G> T (p.Glu1011Ter) single nucleotide variant Pathogenic rs886043316 GRCh37 Chromosome 2, 20130280: 20130280
11 WDR35 NM_001006657.1(WDR35): c.1288+1G> A single nucleotide variant Pathogenic rs371669862 GRCh37 Chromosome 2, 20160314: 20160314
12 WDR35 NM_001006657.1(WDR35): c.1501delC (p.Gln501Lysfs) deletion Likely pathogenic rs886044119 GRCh38 Chromosome 2, 19951417: 19951417
13 WDR35 NM_001006657.1(WDR35): c.1415G> A (p.Arg472Gln) single nucleotide variant Likely pathogenic rs200140363 GRCh38 Chromosome 2, 19953852: 19953852
14 SPAG17 NM_206996.3(SPAG17): c.1069G> C (p.Asp357His) single nucleotide variant Likely pathogenic rs183758503 GRCh37 Chromosome 1, 118635883: 118635883
15 WDR35 NM_001006657.1(WDR35): c.1879-30_1881del deletion Likely pathogenic GRCh38 Chromosome 2, 19941837: 19941869

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

Sources for Cranioectodermal Dysplasia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....