CLSD
MCID: CRN049
MIFTS: 42

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 56 12 58 73 29 13 6 15 71
Boyadjiev-Jabs Syndrome 56 12 58 73
Cranio-Lenticulo-Sutural Dysplasia 74 73 36
Clsd 56 73
Cranio-Lenticulo-Sutural Dysplasia, Clsd 12

Characteristics:

Orphanet epidemiological data:

58
craniolenticulosutural dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
craniolenticulosutural dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


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 cataract and hypertelorism. An important gene associated with Craniolenticulosutural Dysplasia is SEC23A (Sec23 Homolog A, COPII Coat Complex 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 : 56 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)

KEGG : 36 Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.

UniProtKB/Swiss-Prot : 73 Craniolenticulosutural dysplasia: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.

Wikipedia : 74 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 cataract 10.6
2 hypertelorism 10.5
3 marinesco-sjogren syndrome 10.0 SAR1B MIA2
4 cole-carpenter syndrome 10.0 SEC24D SEC23A MIA2
5 hypobetalipoproteinemia, familial, 1 9.9 SAR1B MIA2
6 dyggve-melchior-clausen disease 9.6 TRAPPC2 GOLPH3
7 chylomicron retention disease 9.4 SEC24B SEC23B SEC13 SAR1B SAR1A MIA2
8 spondyloepiphyseal dysplasia tarda, x-linked 9.3 TRAPPC2 MIA3 MIA2

Graphical network of the top 20 diseases related to Craniolenticulosutural Dysplasia:



Diseases related to Craniolenticulosutural Dysplasia

Symptoms & Phenotypes for Craniolenticulosutural Dysplasia

Human phenotypes related to Craniolenticulosutural Dysplasia:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
5 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
6 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
9 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
12 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
13 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
14 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
15 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
16 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
17 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
18 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
19 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
20 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
21 premature loss of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006480
22 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
23 hypoplasia of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000685
24 high iliac wings 58 31 hallmark (90%) Very frequent (99-80%) HP:0008808
25 posterior y-sutural cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0008031
26 posterior wedging of vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0008444
27 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
28 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
29 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
30 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
31 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
32 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
33 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
34 osteopenia 31 occasional (7.5%) HP:0000938
35 optic atrophy 31 occasional (7.5%) HP:0000648
36 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
37 cleft palate 31 occasional (7.5%) HP:0000175
38 bifid uvula 31 occasional (7.5%) HP:0000193
39 esotropia 31 occasional (7.5%) HP:0000565
40 macrocephaly 31 HP:0000256
41 malar flattening 31 HP:0000272
42 wide nasal bridge 31 HP:0000431
43 cryptorchidism 31 HP:0000028
44 anteverted nares 31 HP:0000463
45 midface retrusion 31 HP:0011800
46 abnormality of skin pigmentation 58 Frequent (79-30%)
47 joint laxity 31 HP:0001388
48 thin upper lip vermilion 31 HP:0000219
49 wide anterior fontanel 31 HP:0000260
50 narrow iliac wings 31 HP:0002868

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
large anterior fontanel
delayed closure anterior fontanel

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

Growth Height:
short stature

Head And Neck Nose:
anteverted nares
broad nasal bridge

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
coarse hair
sparse hair
brittle hair

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 29 SEC23A

Anatomical Context for Craniolenticulosutural Dysplasia

MalaCards organs/tissues related to Craniolenticulosutural Dysplasia:

40
Bone, Skin, Eye

Publications for Craniolenticulosutural Dysplasia

Articles related to Craniolenticulosutural Dysplasia:

# Title Authors PMID Year
1
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion. 56 6
21039434 2011
2
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. 56 6
16980979 2006
3
The genetic basis of a craniofacial disease provides insight into COPII coat assembly. 6
17981132 2007
4
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. 56
12677423 2003
5
SEC23B is required for the maintenance of murine professional secretory tissues. 61
22745161 2012

Variations for Craniolenticulosutural Dysplasia

ClinVar genetic disease variations for Craniolenticulosutural Dysplasia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC23A NM_006364.4(SEC23A):c.1144T>C (p.Phe382Leu)SNV Pathogenic 1228 rs118204000 14:39536460-39536460 14:39067256-39067256
2 SEC23A NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)SNV Pathogenic 39521 rs138568622 14:39509974-39509974 14:39040770-39040770
3 SEC23A NM_006364.4(SEC23A):c.2208+6T>ASNV Uncertain significance 576528 rs1421920689 14:39508229-39508229 14:39039025-39039025
4 SEC23A NM_006364.4(SEC23A):c.927T>C (p.Pro309=)SNV Benign 464900 rs17108797 14:39545199-39545199 14:39075995-39075995

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

73
# Symbol AA change Variation ID SNP ID
1 SEC23A p.Phe382Leu VAR_031030 rs118204000

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:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23A
2
Show member pathways
13.29 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23A
3
Show member pathways
13.23 SEC24D SEC24C SEC24B SEC24A SEC23A SEC13
4
Show member pathways
12.99 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23A
5
Show member pathways
12.63 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
6
Show member pathways
12.38 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
7 12.31 SEC24C SEC24B SEC24A SEC23A
8 12.1 SEC24D SEC24C SEC24B SEC24A
9 11.93 SEC24D SEC24C SEC24B SEC24A SEC23A SEC13
10
Show member pathways
11.9 SEC24D SEC24C SEC24B SEC24A SEC23A SAR1B
11 11.54 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
12 11.47 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
13 11.1 SEC24D SEC24C SEC24B SEC24A SEC23A SEC13

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 membrane GO:0016020 10.31 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
2 cytosol GO:0005829 10.26 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B
3 endoplasmic reticulum GO:0005783 10.17 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B
4 endoplasmic reticulum membrane GO:0005789 10.15 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
5 cytoplasmic vesicle GO:0031410 10.01 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
6 intracellular membrane-bounded organelle GO:0043231 9.98 TRAPPC2 SEC24D SEC16A SEC13 MIA3 KLHL12
7 endoplasmic reticulum exit site GO:0070971 9.86 SEC23B SEC23A SEC16A SAR1B SAR1A PREB
8 ER to Golgi transport vesicle membrane GO:0012507 9.81 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
9 COPII vesicle coat GO:0030127 9.65 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
10 COPII-coated ER to Golgi transport vesicle GO:0030134 9.63 SEC24B SEC23A KLHL12
11 Golgi membrane GO:0000139 9.44 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 10.09 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
2 COPII vesicle coating GO:0048208 10 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23A
3 cargo loading into COPII-coated vesicle GO:0090110 9.97 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
4 protein transport GO:0015031 9.97 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A
5 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.95 SEC24D SEC24C SEC24B SEC24A SEC23A SEC13
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.91 SEC24D SEC24C SEC24B SEC24A SEC23A SEC13
7 protein secretion GO:0009306 9.81 PREB MIA3 MIA2 GOLPH3
8 vesicle-mediated transport GO:0016192 9.8 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B
9 positive regulation of protein exit from endoplasmic reticulum GO:0070863 9.7 SEC16A SAR1B SAR1A
10 COPII-coated vesicle budding GO:0090114 9.67 SEC23B SEC23A SEC13
11 protein exit from endoplasmic reticulum GO:0032527 9.65 SEC16A SEC13 PREB
12 regulation of COPII vesicle coating GO:0003400 9.63 SAR1B SAR1A PREB
13 endoplasmic reticulum organization GO:0007029 9.58 SEC16A MIA3
14 positive regulation of TOR signaling GO:0032008 9.57 SEC13 GOLPH3
15 vesicle organization GO:0016050 9.56 SAR1B SAR1A
16 cargo loading into vesicle GO:0035459 9.55 MIA3 MIA2
17 protein localization to endoplasmic reticulum exit site GO:0070973 9.54 SEC16A MIA3
18 ER to Golgi vesicle-mediated transport GO:0006888 9.47 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B

Molecular functions related to Craniolenticulosutural Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 TRAPPC2 SEC24D SEC24C SEC24B SEC24A SEC23B
2 zinc ion binding GO:0008270 9.1 SEC24D SEC24C SEC24B SEC24A SEC23B SEC23A

Sources for Craniolenticulosutural Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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