SDJLABA
MCID: SKL033
MIFTS: 21

Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age (SDJLABA)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

MalaCards integrated aliases for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

Name: Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age 57 73 6
Sdjlaba 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
advanced bone age and monkey-wrench femoral neck no longer apparent in later childhood


HPO:

31
skeletal dysplasia, mild, with joint laxity and advanced bone age:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

OMIM® : 57 CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020). (618870) (Updated 05-Mar-2021)

MalaCards based summary : Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age, is also known as sdjlaba. An important gene associated with Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age is CSGALNACT1 (Chondroitin Sulfate N-Acetylgalactosaminyltransferase 1). Affiliated tissues include bone, and related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : 73 Skeletal dysplasia, mild, with joint laxity and advanced bone age: An autosomal recessive disorder characterized by skeletal dysplasia, short stature, short long bones, advanced bone age, joint laxity, and facial dysmorphism.

Related Diseases for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Symptoms & Phenotypes for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Human phenotypes related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

31 (show all 46)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 frontal bossing 31 very rare (1%) HP:0002007
3 scoliosis 31 very rare (1%) HP:0002650
4 hyperlordosis 31 very rare (1%) HP:0003307
5 depressed nasal bridge 31 very rare (1%) HP:0005280
6 pes planus 31 very rare (1%) HP:0001763
7 anteverted nares 31 very rare (1%) HP:0000463
8 short stature 31 very rare (1%) HP:0004322
9 genu valgum 31 very rare (1%) HP:0002857
10 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
11 pectus excavatum 31 very rare (1%) HP:0000767
12 scapular winging 31 very rare (1%) HP:0003691
13 motor delay 31 very rare (1%) HP:0001270
14 joint laxity 31 very rare (1%) HP:0001388
15 neonatal respiratory distress 31 very rare (1%) HP:0002643
16 downslanted palpebral fissures 31 very rare (1%) HP:0000494
17 brachydactyly 31 very rare (1%) HP:0001156
18 patent ductus arteriosus 31 very rare (1%) HP:0001643
19 long philtrum 31 very rare (1%) HP:0000343
20 ventriculomegaly 31 very rare (1%) HP:0002119
21 joint dislocation 31 very rare (1%) HP:0001373
22 ventricular septal defect 31 very rare (1%) HP:0001629
23 increased nuchal translucency 31 very rare (1%) HP:0010880
24 absent septum pellucidum 31 very rare (1%) HP:0001331
25 convex nasal ridge 31 very rare (1%) HP:0000444
26 micromelia 31 very rare (1%) HP:0002983
27 microretrognathia 31 very rare (1%) HP:0000308
28 round face 31 very rare (1%) HP:0000311
29 midface retrusion 31 very rare (1%) HP:0011800
30 accelerated skeletal maturation 31 very rare (1%) HP:0005616
31 butterfly vertebrae 31 very rare (1%) HP:0003316
32 single transverse palmar crease 31 very rare (1%) HP:0000954
33 tricuspid regurgitation 31 very rare (1%) HP:0005180
34 2-3 toe syndactyly 31 very rare (1%) HP:0004691
35 coronal cleft vertebrae 31 very rare (1%) HP:0003417
36 flat acetabular roof 31 very rare (1%) HP:0003180
37 hypermetropia 31 very rare (1%) HP:0000540
38 limited elbow extension 31 very rare (1%) HP:0001377
39 prominent nasal tip 31 very rare (1%) HP:0005274
40 periventricular heterotopia 31 very rare (1%) HP:0007165
41 patent foramen ovale 31 very rare (1%) HP:0001655
42 finger joint hypermobility 31 very rare (1%) HP:0006094
43 limited knee extension 31 very rare (1%) HP:0003066
44 clinodactyly of the 2nd finger 31 very rare (1%) HP:0040022
45 hypotonia 31 very rare (1%) HP:0001252
46 monkey wrench femoral neck 31 very rare (1%) HP:0033102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Face:
frontal bossing
microretrognathia
midface hypoplasia

Skeletal Feet:
pes planus
toe syndactyly, 2/3

Growth Height:
short stature

Chest External Features:
pectus excavatum
narrow chest

Respiratory Lung:
neonatal respiratory distress

Head And Neck Head:
relative macrocephaly

Head And Neck Eyes:
downslanting palpebral fissures
hyperopia
short palpebral fissures
nevus flammeus over both eyes

Neurologic Central Nervous System:
language delay
motor delay, mild
ventriculomegaly, mild
hippocampal volume loss, mild

Skin Nails Hair Skin:
single palmar crease

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder, mild

Skeletal Spine:
scoliosis
hyperlordosis
coronal clefting of vertebrae
sagittal clefting of vertebrae

Head And Neck Nose:
anteverted nares
prominent nasal tip
beaked nose
flat nasal bridge

Skeletal Limbs:
epiphyseal dysplasia
genua valga
short long bones
short femurs on prenatal sonography
neonatal monkey-wrench appearance of femoral neck
more
Skeletal:
joint laxity
advanced carpotarsal bone age in infancy

Skeletal Hands:
brachydactyly

Head And Neck Ears:
dysplastic ears

Skeletal Pelvis:
flat acetabular roofs
trident-shaped acetabula

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae

Muscle Soft Tissue:
hypotonia in early infancy

Clinical features from OMIM®:

618870 (Updated 05-Mar-2021)

Drugs & Therapeutics for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Search Clinical Trials , NIH Clinical Center for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age

Genetic Tests for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Anatomical Context for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

MalaCards organs/tissues related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

40
Bone

Publications for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Articles related to Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

# Title Authors PMID Year
1
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. 57 6
31705726 2020
2
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia. 6 57
31325655 2019
3
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. 6 57
27599773 2017

Variations for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

ClinVar genetic disease variations for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSGALNACT1 NM_018371.4(CSGALNACT1):c.372del (p.His125fs) Deletion Pathogenic 870478 8:19362974-19362974 8:19505463-19505463
2 CSGALNACT1 NM_001130518.1:c.-297+17058_634+22070delinsT Indel Pathogenic 870479
3 CSGALNACT1 NM_018371.4:c.635-8538_1228-3196del Deletion Pathogenic 870476
4 CSGALNACT1 NM_018371.4(CSGALNACT1):c.1151C>G (p.Pro384Arg) SNV Likely pathogenic 870477 8:19276243-19276243 8:19418732-19418732
5 CSGALNACT1 NM_018371.4(CSGALNACT1):c.1294G>T (p.Asp432Tyr) SNV Likely pathogenic 870480 8:19266139-19266139 8:19408628-19408628
6 CSGALNACT1 NM_018371.5(CSGALNACT1):c.791A>G (p.Asn264Ser) SNV Likely pathogenic 992625 8:19315997-19315997 8:19458486-19458486

Expression for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Search GEO for disease gene expression data for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone Age.

Pathways for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

GO Terms for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

Sources for Skeletal Dysplasia, Mild, with Joint Laxity and Advanced Bone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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