CLSD
MCID: CRN049
MIFTS: 39

Craniolenticulosutural Dysplasia (CLSD)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Craniolenticulosutural Dysplasia

MalaCards integrated aliases for Craniolenticulosutural Dysplasia:

Name: Craniolenticulosutural Dysplasia 58 12 60 76 30 13 6 15 74
Boyadjiev-Jabs Syndrome 58 12 60 76
Cranio-Lenticulo-Sutural Dysplasia 77 76 38
Clsd 58 76
Cranio-Lenticulo-Sutural Dysplasia, Clsd 12

Characteristics:

Orphanet epidemiological data:

60
craniolenticulosutural dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
craniolenticulosutural dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Craniolenticulosutural Dysplasia

Disease Ontology : 12 An autosomal recessive disorder in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has material basis in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.

MalaCards based summary : Craniolenticulosutural Dysplasia, also known as boyadjiev-jabs syndrome, is related to congenital dyserythropoietic anemia. An important gene associated with Craniolenticulosutural Dysplasia is SEC23A (Sec23 Homolog A, Coat Complex II Component), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Metabolism of proteins. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and frontal bossing

OMIM : 58 Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011). (607812)

UniProtKB/Swiss-Prot : 76 Craniolenticulosutural dysplasia: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.

Wikipedia : 77 Cranio-lenticulo-sutural dysplasia (CLSD, or Boyadjiev–Jabs syndrome) is a neonatal/infancy disease... more...

Related Diseases for Craniolenticulosutural Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 congenital dyserythropoietic anemia 9.9 SEC23A SEC23B

Symptoms & Phenotypes for Craniolenticulosutural Dysplasia

Human phenotypes related to Craniolenticulosutural Dysplasia:

60 33 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
4 prominent supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0000336
5 skeletal dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002652
6 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
7 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
8 coarse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002208
9 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
10 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
11 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
12 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
13 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
14 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
15 hypoplasia of the maxilla 60 33 hallmark (90%) Very frequent (99-80%) HP:0000327
16 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
17 thin vermilion border 60 33 hallmark (90%) Very frequent (99-80%) HP:0000233
18 wide nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000445
19 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
20 decreased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004331
21 premature loss of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006480
22 brittle hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002299
23 hypoplasia of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000685
24 high iliac wings 60 33 hallmark (90%) Very frequent (99-80%) HP:0008808
25 posterior y-sutural cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0008031
26 posterior wedging of vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0008444
27 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
28 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
29 hyperpigmentation of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0000953
30 capillary hemangioma 33 frequent (33%) HP:0005306
31 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
32 delayed speech and language development 60 33 occasional (7.5%) Occasional (29-5%) HP:0000750
33 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
34 osteopenia 33 occasional (7.5%) HP:0000938
35 optic atrophy 33 occasional (7.5%) HP:0000648
36 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
37 cleft palate 33 occasional (7.5%) HP:0000175
38 bifid uvula 33 occasional (7.5%) HP:0000193
39 esotropia 33 occasional (7.5%) HP:0000565
40 macrocephaly 33 HP:0000256
41 malar flattening 33 HP:0000272
42 wide nasal bridge 33 HP:0000431
43 anteverted nares 33 HP:0000463
44 cryptorchidism 33 HP:0000028
45 joint laxity 33 HP:0001388
46 capillary hemangiomas 60 Frequent (79-30%)
47 thin upper lip vermilion 33 HP:0000219
48 midface retrusion 33 HP:0011800
49 wide anterior fontanel 33 HP:0000260
50 abnormality of skin pigmentation 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
large anterior fontanel
delayed closure anterior fontanel

Head And Neck Face:
frontal bossing
midface hypoplasia
long, smooth philtrum
prominent supraorbital ridge
forehead hyperpigmentation

Head And Neck Nose:
anteverted nares
broad nasal bridge

Growth Height:
short stature

Skeletal:
joint laxity
osteopenia (in some patients)

Skeletal Feet:
flat feet

Head And Neck Teeth:
delayed eruption
dental caries (secondary teeth)
hypoplastic teeth (secondary teeth)

Growth Other:
failure to thrive, postnatal, due to gastroesophageal reflux (in some patients)

Skin Nails Hair Skin:
hyperpigmentation (forehead)
capillary hemangioma (forehead)

Head And Neck Eyes:
hypertelorism
esotropia (in some patients)
y-shaped sutural cataract (in some patients)
punctate lenticular opacities
optic atrophy, bilateral (in some patients)
more
Skeletal Spine:
scoliosis
posterior wedging of vertebral bodies

Skin Nails Hair Hair:
coarse hair
sparse hair
brittle hair

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Mouth:
wide mouth
thin upper lip
cleft palate (in some patients)
bifid uvula (in some patients)
anteriorly displaced frenulum linguae (in some patients)

Skeletal Skull:
ossification defects

Abdomen Gastrointestinal:
gastroesophageal reflux (in some patients)

Skeletal Pelvis:
high, narrow iliac wings

Clinical features from OMIM:

607812

Drugs & Therapeutics for Craniolenticulosutural Dysplasia

Search Clinical Trials , NIH Clinical Center for Craniolenticulosutural Dysplasia

Genetic Tests for Craniolenticulosutural Dysplasia

Genetic tests related to Craniolenticulosutural Dysplasia:

# Genetic test Affiliating Genes
1 Craniolenticulosutural Dysplasia 30 SEC23A

Anatomical Context for Craniolenticulosutural Dysplasia

MalaCards organs/tissues related to Craniolenticulosutural Dysplasia:

42
Bone, Skin, Eye

Publications for Craniolenticulosutural Dysplasia

Articles related to Craniolenticulosutural Dysplasia:

# Title Authors Year
1
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. ( 21039434 )
2011
2
The genetic basis of a craniofacial disease provides insight into COPII coat assembly. ( 17981132 )
2007
3
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. ( 16980979 )
2006

Variations for Craniolenticulosutural Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Craniolenticulosutural Dysplasia:

76
# Symbol AA change Variation ID SNP ID
1 SEC23A p.Phe382Leu VAR_031030 rs118204000

ClinVar genetic disease variations for Craniolenticulosutural Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEC23A NM_006364.3(SEC23A): c.1144T> C (p.Phe382Leu) single nucleotide variant Pathogenic rs118204000 GRCh37 Chromosome 14, 39536460: 39536460
2 SEC23A NM_006364.3(SEC23A): c.1144T> C (p.Phe382Leu) single nucleotide variant Pathogenic rs118204000 GRCh38 Chromosome 14, 39067256: 39067256
3 SEC23A NM_006364.3(SEC23A): c.2104A> G (p.Met702Val) single nucleotide variant Pathogenic rs138568622 GRCh37 Chromosome 14, 39509974: 39509974
4 SEC23A NM_006364.3(SEC23A): c.2104A> G (p.Met702Val) single nucleotide variant Pathogenic rs138568622 GRCh38 Chromosome 14, 39040770: 39040770
5 SEC23A NM_006364.3(SEC23A): c.927T> C (p.Pro309=) single nucleotide variant Benign rs17108797 GRCh37 Chromosome 14, 39545199: 39545199
6 SEC23A NM_006364.3(SEC23A): c.927T> C (p.Pro309=) single nucleotide variant Benign rs17108797 GRCh38 Chromosome 14, 39075995: 39075995
7 SEC23A NM_006364.3(SEC23A): c.2208+6T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 39039025: 39039025
8 SEC23A NM_006364.3(SEC23A): c.2208+6T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 39508229: 39508229

Expression for Craniolenticulosutural Dysplasia

Search GEO for disease gene expression data for Craniolenticulosutural Dysplasia.

Pathways for Craniolenticulosutural Dysplasia

Pathways related to Craniolenticulosutural Dysplasia according to KEGG:

38
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Craniolenticulosutural Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.38 ARCN1 OGT SAR1B SEC13 SEC23A SEC24B
2
Show member pathways
13.03 CUL3 SAR1B SEC13 SEC23A SEC24B
3
Show member pathways
12.91 ARCN1 SAR1B SEC13 SEC23A SEC24B
4
Show member pathways
12.61 ARCN1 SAR1B SEC13 SEC23A SEC24B
5
Show member pathways
11.87 SEC23A SEC23B SEC24B
6 11.77 SAR1B SEC13 SEC23A SEC23B SEC24B
7 11.57 SAR1B SEC13 SEC23A SEC24B
8
Show member pathways
11.53 SAR1B SEC23A SEC24B
9 10.88 SAR1B SEC13 SEC23A SEC23B SEC24B
10 10.65 SAR1B SEC13 SEC23A SEC24B

GO Terms for Craniolenticulosutural Dysplasia

Cellular components related to Craniolenticulosutural Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.88 ARCN1 SAR1B SEC13 SEC23A SEC23B SEC24B
2 endoplasmic reticulum membrane GO:0005789 9.85 ARCN1 SAR1B SEC13 SEC23A SEC23B SEC24B
3 cytoplasmic vesicle GO:0031410 9.73 ARCN1 KLHL12 SEC13 SEC23A SEC23B SEC24B
4 Golgi membrane GO:0000139 9.7 ARCN1 CUL3 KLHL12 SEC13 SEC23A SEC23B
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.48 KLHL12 SEC23A
6 Cul3-RING ubiquitin ligase complex GO:0031463 9.46 CUL3 KLHL12
7 endoplasmic reticulum exit site GO:0070971 9.43 SAR1B SEC23A
8 ER to Golgi transport vesicle membrane GO:0012507 9.35 SAR1B SEC13 SEC23A SEC23B SEC24B
9 COPII vesicle coat GO:0030127 9.1 KLHL12 SAR1B SEC13 SEC23A SEC23B SEC24B
10 membrane GO:0016020 10.15 ARCN1 CUL3 GOLPH3 OGT SAR1B SEC13
11 cytosol GO:0005829 10.02 ARCN1 CUL3 GOLPH3 KLHL12 OGT SAR1B

Biological processes related to Craniolenticulosutural Dysplasia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 ARCN1 GOLPH3 SAR1B SEC13 SEC23A SEC23B
2 intracellular protein transport GO:0006886 9.88 ARCN1 SAR1B SEC13 SEC23A SEC23B SEC24B
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.78 SAR1B SEC13 SEC23A SEC24B
4 ER to Golgi vesicle-mediated transport GO:0006888 9.7 ARCN1 CUL3 KLHL12 SAR1B SEC23A SEC23B
5 COPII-coated vesicle budding GO:0090114 9.63 SEC13 SEC23A SEC23B
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.62 SAR1B SEC13 SEC23A SEC24B
7 cargo loading into COPII-coated vesicle GO:0090110 9.56 SEC13 SEC23A SEC23B SEC24B
8 positive regulation of GTPase activity GO:0043547 9.54 SEC23A SEC23B
9 protein monoubiquitination GO:0006513 9.52 CUL3 KLHL12
10 positive regulation of TOR signaling GO:0032008 9.51 GOLPH3 SEC13
11 COPII vesicle coating GO:0048208 9.43 CUL3 KLHL12 SAR1B SEC13 SEC23A SEC24B
12 vesicle-mediated transport GO:0016192 9.23 ARCN1 CUL3 KLHL12 SAR1B SEC13 SEC23A
13 Golgi organization GO:0007030 9.19 GOLPH3
14 regulation of COPII vesicle coating GO:0003400 9.13 SAR1B

Sources for Craniolenticulosutural Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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