MCID: CRN109
MIFTS: 24

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 54 24 71 29 13 69
Sensenbrenner Syndrome 2 71
Ced2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 2

OMIM : 54
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 sensenbrenner syndrome 2, is related to camurati engelmann disease, type 2, and has symptoms including brachydactyly, low-set ears and hypertelorism. An important gene associated with Cranioectodermal Dysplasia 2 is WDR35 (WD Repeat Domain 35). Affiliated tissues include heart.

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 4
Cranioectodermal Dysplasia 3

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

id Related Disease Score Top Affiliating Genes
1 camurati engelmann disease, type 2 10.8

Symptoms & Phenotypes for Cranioectodermal Dysplasia 2

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Ears:
low-set ears
simple ears

Skeletal:
joint laxity

Head And Neck- Mouth:
everted lower lip

Head And Neck- Teeth:
small teeth
widely spaced teeth
dental fusion

Chest- External Features:
narrow chest

Skeletal- Limbs:
rhizomelic limb shortening

Neurologic- Central Nervous System:
normal intelligence

Head And Neck- Head:
dolichocephaly

Skeletal- Hands:
brachydactyly
syndactyly

Head And Neck- Eyes:
hypertelorism
telecanthus
narrow palpebral fissures

Skin Nails & Hair- Hair:
sparse hair

Head And Neck- Face:
frontal bossing

Head And Neck- Neck:
short neck

Muscle Soft Tissue:
inguinal hernia

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal- Skull:
craniosynostosis


Clinical features from OMIM:

613610

Human phenotypes related to Cranioectodermal Dysplasia 2:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 low-set ears 32 HP:0000369
3 hypertelorism 32 HP:0000316
4 joint laxity 32 HP:0001388
5 sparse hair 32 HP:0008070
6 frontal bossing 32 HP:0002007
7 short neck 32 HP:0000470
8 narrow chest 32 HP:0000774
9 telecanthus 32 HP:0000506
10 inguinal hernia 32 HP:0000023
11 pectus excavatum 32 HP:0000767
12 syndactyly 32 HP:0001159
13 rhizomelia 32 HP:0008905
14 widely spaced teeth 32 HP:0000687
15 blepharophimosis 32 HP:0000581
16 craniosynostosis 32 HP:0001363
17 dolichocephaly 32 HP:0000268
18 microdontia 32 HP:0000691
19 ectodermal dysplasia 32 HP:0000968
20 everted lower lip vermilion 32 HP:0000232
21 abnormality of the pinna 32 HP:0000377

UMLS symptoms related to Cranioectodermal Dysplasia 2:


joint laxity

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:

id Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 2 29 24 WDR35

Anatomical Context for Cranioectodermal Dysplasia 2

MalaCards organs/tissues related to Cranioectodermal Dysplasia 2:

39
Heart

Publications for Cranioectodermal Dysplasia 2

Variations for Cranioectodermal Dysplasia 2

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

71
id 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 14)
id 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 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

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

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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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