MCID: CRN111
MIFTS: 25

Cranioectodermal Dysplasia 4

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

Aliases & Classifications for Cranioectodermal Dysplasia 4

MalaCards integrated aliases for Cranioectodermal Dysplasia 4:

Name: Cranioectodermal Dysplasia 4 54 24 71 29 13 69
Sensenbrenner Syndrome 4 71
Ced4 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
cranioectodermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cranioectodermal Dysplasia 4

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). (614378)

MalaCards based summary : Cranioectodermal Dysplasia 4, is also known as sensenbrenner syndrome 4, and has symptoms including short stature, frontal bossing and narrow chest. An important gene associated with Cranioectodermal Dysplasia 4 is WDR19 (WD Repeat Domain 19). Affiliated tissues include heart, skin and bone.

UniProtKB/Swiss-Prot : 71 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 4
Cranioectodermal Dysplasia 3

Symptoms & Phenotypes for Cranioectodermal Dysplasia 4

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Chest- External Features:
pectus excavatum
short, narrow thorax

Head And Neck- Head:
full cheeks (in some patients)
frontal bossing (in some patients)

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

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

Skin Nails & Hair- Nails:
thick nails (in some patients)

Skeletal:
joint hypermobility

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- 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)

Skeletal- Hands:
short and broad distal phalanges
short second and fifth phalanges
cutaneous syndactyly (in some patients)

Skin Nails & Hair- Skin:
lax skin

Laboratory- Abnormalities:
bone marrow hypoplasia (in some patients)


Clinical features from OMIM:

614378

Human phenotypes related to Cranioectodermal Dysplasia 4:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 frontal bossing 32 occasional (7.5%) HP:0002007
3 narrow chest 32 HP:0000774
4 thin vermilion border 32 occasional (7.5%) HP:0000233
5 joint hypermobility 32 HP:0001382
6 pectus excavatum 32 HP:0000767
7 full cheeks 32 occasional (7.5%) HP:0000293
8 rod-cone dystrophy 32 HP:0000510
9 hypermetropia 32 HP:0000540
10 smooth philtrum 32 occasional (7.5%) HP:0000319
11 recurrent pneumonia 32 occasional (7.5%) HP:0006532
12 nephropathy 32 HP:0000112
13 ectodermal dysplasia 32 HP:0000968
14 hip dysplasia 32 HP:0001385
15 cutis laxa 32 HP:0000973
16 sagittal craniosynostosis 32 occasional (7.5%) HP:0004442
17 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
18 protruding ear 32 occasional (7.5%) HP:0000411
19 short distal phalanx of finger 32 HP:0009882
20 cutaneous finger syndactyly 32 occasional (7.5%) HP:0010554
21 broad distal phalanx of finger 32 HP:0009836
22 stage 5 chronic kidney disease 32 occasional (7.5%) HP:0003774
23 broad phalanx of the toes 32 HP:0010174

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:

id Genetic test Affiliating Genes
1 Cranioectodermal Dysplasia 4 29 24 WDR19

Anatomical Context for Cranioectodermal Dysplasia 4

MalaCards organs/tissues related to Cranioectodermal Dysplasia 4:

39
Heart, Skin, Bone, Bone Marrow, Lung, Kidney, Spleen

Publications for Cranioectodermal Dysplasia 4

Variations for Cranioectodermal Dysplasia 4

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

71
id Symbol AA change Variation ID SNP ID
1 WDR19 p.Leu710Ser VAR_067314 rs387906980

ClinVar genetic disease variations for Cranioectodermal Dysplasia 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WDR19 NM_001317924.1(WDR19): c.1649T> C (p.Leu550Ser) single nucleotide variant Pathogenic rs387906980 GRCh37 Chromosome 4, 39233563: 39233563
2 WDR19 NM_025132.3(WDR19): c.3307C> T (p.Arg1103Ter) single nucleotide variant Pathogenic rs387906981 GRCh37 Chromosome 4, 39269660: 39269660

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
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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