MCID: CRN049
MIFTS: 25

Craniolenticulosutural Dysplasia

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Craniolenticulosutural Dysplasia

MalaCards integrated aliases for Craniolenticulosutural Dysplasia:

Name: Craniolenticulosutural Dysplasia 57 59 75 29 13 6 73
Cranio-Lenticulo-Sutural Dysplasia 76 75 37
Boyadjiev-Jabs Syndrome 57 59 75
Clsd 57 75

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:



Summaries for Craniolenticulosutural Dysplasia

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)

MalaCards based summary : Craniolenticulosutural Dysplasia, is also known as cranio-lenticulo-sutural dysplasia. An important gene associated with Craniolenticulosutural Dysplasia is SEC23A (Sec23 Homolog A, Coat Complex II Component), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and frontal bossing

UniProtKB/Swiss-Prot : 75 Craniolenticulosutural dysplasia: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.

Wikipedia : 76 Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease... more...

Related Diseases for Craniolenticulosutural Dysplasia

Symptoms & Phenotypes for Craniolenticulosutural Dysplasia

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
midface hypoplasia
long, smooth philtrum
prominent supraorbital ridge
forehead hyperpigmentation

Head And Neck Nose:
anteverted nares
broad nasal bridge

Growth Height:
short stature

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 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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal:
joint laxity
osteopenia (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

Human phenotypes related to Craniolenticulosutural Dysplasia:

59 32 (show top 50) (show all 55)
# 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 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
5 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
6 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
7 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
8 delayed speech and language development 59 32 occasional (7.5%) Occasional (29-5%) HP:0000750
9 pes planus 59 32 frequent (33%) Frequent (79-30%) HP:0001763
10 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
11 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
12 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
13 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
14 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
15 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
16 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
17 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
18 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
19 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
20 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
21 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
22 thin vermilion border 59 32 hallmark (90%) Very frequent (99-80%) HP:0000233
23 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
24 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
25 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
26 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
27 brittle hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002299
28 hypoplasia of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000685
29 high iliac wings 59 32 hallmark (90%) Very frequent (99-80%) HP:0008808
30 premature loss of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006480
31 posterior y-sutural cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0008031
32 posterior wedging of vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008444
33 macrocephaly 32 HP:0000256
34 malar flattening 32 HP:0000272
35 osteopenia 32 occasional (7.5%) HP:0000938
36 wide nasal bridge 32 HP:0000431
37 anteverted nares 32 HP:0000463
38 optic atrophy 32 occasional (7.5%) HP:0000648
39 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
40 cleft palate 32 occasional (7.5%) HP:0000175
41 cryptorchidism 32 HP:0000028
42 capillary hemangiomas 59 Frequent (79-30%)
43 joint laxity 32 HP:0001388
44 thin upper lip vermilion 32 HP:0000219
45 midface retrusion 32 HP:0011800
46 wide anterior fontanel 32 HP:0000260
47 abnormality of skin pigmentation 59 Frequent (79-30%)
48 narrow iliac wings 32 HP:0002868
49 bifid uvula 32 occasional (7.5%) HP:0000193
50 esotropia 32 occasional (7.5%) HP:0000565

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
Skin, Bone

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
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:

75
# 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 GRCh38 Chromosome 14, 39075995: 39075995
6 SEC23A NM_006364.3(SEC23A): c.927T> C (p.Pro309=) single nucleotide variant Benign rs17108797 GRCh37 Chromosome 14, 39545199: 39545199

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

GO Terms for Craniolenticulosutural Dysplasia

Sources for Craniolenticulosutural Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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