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 57 12 59 74 29 13 6 15 72
Boyadjiev-Jabs Syndrome 57 12 59 74
Cranio-Lenticulo-Sutural Dysplasia 75 74 37
Clsd 57 74
Cranio-Lenticulo-Sutural Dysplasia, Clsd 12

Characteristics:

Orphanet epidemiological data:

59
craniolenticulosutural dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
craniolenticulosutural dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070307
OMIM 57 607812
KEGG 37 H01105
ICD10 via Orphanet 34 Q75.8
UMLS via Orphanet 73 C1843042
Orphanet 59 ORPHA50814
MedGen 42 C1843042
UMLS 72 C1843042

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, 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 : 57 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 : 37
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 : 74 Craniolenticulosutural dysplasia: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.

Wikipedia : 75 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 congenital dyserythropoietic anemia 9.8 SEC23B SEC23A

Symptoms & Phenotypes for Craniolenticulosutural Dysplasia

Human phenotypes related to Craniolenticulosutural Dysplasia:

59 32 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
4 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
5 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
6 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
7 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
8 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
9 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
10 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
11 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
12 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
13 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
14 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
15 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
16 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
17 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
18 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
19 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
20 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
21 premature loss of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006480
22 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
23 hypoplasia of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000685
24 high iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008808
25 posterior y-sutural cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0008031
26 posterior wedging of vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008444
27 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
28 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
29 capillary hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0005306
30 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
31 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
32 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
33 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
34 osteopenia 32 occasional (7.5%) HP:0000938
35 optic atrophy 32 occasional (7.5%) HP:0000648
36 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
37 cleft palate 32 occasional (7.5%) HP:0000175
38 bifid uvula 32 occasional (7.5%) HP:0000193
39 esotropia 32 occasional (7.5%) HP:0000565
40 macrocephaly 32 HP:0000256
41 malar flattening 32 HP:0000272
42 wide nasal bridge 32 HP:0000431
43 anteverted nares 32 HP:0000463
44 abnormality of skin pigmentation 59 Frequent (79-30%)
45 cryptorchidism 32 HP:0000028
46 joint laxity 32 HP:0001388
47 thin upper lip vermilion 32 HP:0000219
48 midface retrusion 32 HP:0011800
49 wide anterior fontanel 32 HP:0000260
50 narrow iliac wings 32 HP:0002868

Symptoms via clinical synopsis from OMIM:

57
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

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 29 SEC23A

Anatomical Context for Craniolenticulosutural Dysplasia

MalaCards organs/tissues related to Craniolenticulosutural Dysplasia:

41
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. 8 71
21039434 2011
2
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. 8 71
16980979 2006
3
The genetic basis of a craniofacial disease provides insight into COPII coat assembly. 71
17981132 2007
4
A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. 8
12677423 2003
5
SEC23B is required for the maintenance of murine professional secretory tissues. 38
22745161 2012

Variations for Craniolenticulosutural Dysplasia

ClinVar genetic disease variations for Craniolenticulosutural Dysplasia:

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

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

74
# 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:

37
# 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 SEC24B SEC23A SEC13 SAR1B OGT ARCN1
2
Show member pathways
13.03 SEC24B SEC23A SEC13 SAR1B CUL3
3
Show member pathways
12.91 SEC24B SEC23A SEC13 SAR1B ARCN1
4
Show member pathways
12.61 SEC24B SEC23A SEC13 SAR1B ARCN1
5
Show member pathways
11.87 SEC24B SEC23B SEC23A
6 11.77 SEC24B SEC23B SEC23A SEC13 SAR1B
7 11.57 SEC24B SEC23A SEC13 SAR1B
8
Show member pathways
11.53 SEC24B SEC23A SAR1B
9 10.88 SEC24B SEC23B SEC23A SEC13 SAR1B
10 10.65 SEC24B SEC23A SEC13 SAR1B

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

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 SEC24B SEC23B SEC23A SEC13 SAR1B GOLPH3
2 intracellular protein transport GO:0006886 9.88 SEC24B SEC23B SEC23A SEC13 SAR1B ARCN1
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.78 SEC24B SEC23A SEC13 SAR1B
4 ER to Golgi vesicle-mediated transport GO:0006888 9.7 SEC24B SEC23B SEC23A SAR1B KLHL12 CUL3
5 COPII-coated vesicle budding GO:0090114 9.63 SEC23B SEC23A SEC13
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.62 SEC24B SEC23A SEC13 SAR1B
7 cargo loading into COPII-coated vesicle GO:0090110 9.56 SEC24B SEC23B SEC23A SEC13
8 positive regulation of GTPase activity GO:0043547 9.54 SEC23B SEC23A
9 protein monoubiquitination GO:0006513 9.52 KLHL12 CUL3
10 positive regulation of TOR signaling GO:0032008 9.51 SEC13 GOLPH3
11 COPII vesicle coating GO:0048208 9.43 SEC24B SEC23A SEC13 SAR1B KLHL12 CUL3
12 vesicle-mediated transport GO:0016192 9.23 SEC24B SEC23B SEC23A SEC13 SAR1B KLHL12
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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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