JDSCD
MCID: MLT162
MIFTS: 42

Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects (JDSCD)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards integrated aliases for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

Name: Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 56 73
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 36 29 13 6
Jdscd 56 73
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects 56
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism Without Congenital Heart Defects 6
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with Congenital Heart Defects 6
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome 58
Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects 39
Larsen Syndrome, Autosomal Recessive, Formerly 56
Autosomal Recessive Larsen Syndrome 73
Larsen-Like Syndrome, B3gat3 Type 58
Larsen-Like Syndrome B3gat3 Type 73
Larsen Syndrome, Recessive Type 71
Larsen-Like Syndrome 73

Characteristics:

Orphanet epidemiological data:

58
larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Multiple Joint Dislocations, Short Stature, and Craniofacial...

KEGG : 36 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosynthses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.

MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, is related to larsen-like syndrome b3gat3 type and larsen syndrome. An important gene associated with Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects is B3GAT3 (Beta-1,3-Glucuronyltransferase 3), and among its related pathways/superpathways are Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate and Glycosaminoglycan biosynthesis - heparan sulfate / heparin. Affiliated tissues include heart, bone and skin, and related phenotypes are delayed skeletal maturation and inguinal hernia

UniProtKB/Swiss-Prot : 73 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects.

More information from OMIM: 245600

Related Diseases for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Graphical network of the top 20 diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:



Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

Symptoms & Phenotypes for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Human phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

31 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
2 inguinal hernia 31 occasional (7.5%) HP:0000023
3 pectus carinatum 31 occasional (7.5%) HP:0000768
4 genu valgum 31 occasional (7.5%) HP:0002857
5 flat face 31 occasional (7.5%) HP:0012368
6 webbed neck 31 occasional (7.5%) HP:0000465
7 motor delay 31 occasional (7.5%) HP:0001270
8 sandal gap 31 occasional (7.5%) HP:0001852
9 recurrent fractures 31 occasional (7.5%) HP:0002757
10 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
11 microretrognathia 31 occasional (7.5%) HP:0000308
12 blue sclerae 31 occasional (7.5%) HP:0000592
13 hyperextensible skin 31 occasional (7.5%) HP:0000974
14 shoulder dislocation 31 occasional (7.5%) HP:0003834
15 rhizomelia 31 occasional (7.5%) HP:0008905
16 generalized hypotonia 31 occasional (7.5%) HP:0001290
17 11 pairs of ribs 31 occasional (7.5%) HP:0000878
18 generalized osteoporosis 31 occasional (7.5%) HP:0040160
19 prominent antitragus 31 occasional (7.5%) HP:0008593
20 metacarpophalangeal joint hyperextensibility 31 occasional (7.5%) HP:0006099
21 depressed nasal bridge 31 HP:0005280
22 hypertelorism 31 HP:0000316
23 short neck 31 HP:0000470
24 muscular hypotonia 31 HP:0001252
25 scoliosis 31 HP:0002650
26 pes planus 31 HP:0001763
27 microtia 31 HP:0008551
28 hydrocephalus 31 HP:0000238
29 thick eyebrow 31 HP:0000574
30 short stature 31 HP:0004322
31 brachycephaly 31 HP:0000248
32 cardiomegaly 31 HP:0001640
33 prominent forehead 31 HP:0011220
34 frontal bossing 31 HP:0002007
35 microdontia 31 HP:0000691
36 cleft palate 31 HP:0000175
37 metatarsus adductus 31 HP:0001840
38 narrow mouth 31 HP:0000160
39 osteopenia 31 HP:0000938
40 osteoporosis 31 HP:0000939
41 low-set ears 31 HP:0000369
42 low posterior hairline 31 HP:0002162
43 bicuspid aortic valve 31 HP:0001647
44 elbow flexion contracture 31 HP:0002987
45 joint laxity 31 HP:0001388
46 mitral valve prolapse 31 HP:0001634
47 talipes equinovarus 31 HP:0001762
48 left ventricular hypertrophy 31 HP:0001712
49 downslanted palpebral fissures 31 HP:0000494
50 amblyopia 31 HP:0000646

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge

Skeletal Spine:
scoliosis
osteopenia evident in childhood
atlanto-axial instability (in one patient)
atlanto-occipital instability (in one patient)

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly
atrial septal defect
bicuspid aortic valve
mitral valve prolapse
left ventricular hypertrophy
more
Head And Neck Ears:
low-set ears
small ears
dysmorphic ears
prominent antitragus (in some patients)
uplift of earlobes (in some patients)

Head And Neck Eyes:
amblyopia
esotropia
downslanting palpebral fissures
hyperopia
hypertelorism (in some patients)
more
Chest External Features:
narrow chest
chest asymmetry, mild

Head And Neck Teeth:
small teeth
extensive caries

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some patients)
gracile ribs (in one patient)
11 pairs of ribs (rare)

Respiratory Lung:
restrictive lung disease secondary to small thorax (rare)

Skeletal Limbs:
shoulder dislocation (in some patients)
elbow dislocation, bilateral
elbow contracture
rhizomelic shortening (in some patients)
radioulnar synostosis (in some patients)
more
Skin Nails Hair Skin:
hyperextensible skin (in some patients)
excessive skin wrinkling of palms and soles (in one patient)

Neurologic Central Nervous System:
hydrocephalus (rare)
arrested hydrocephalus (rare)
verbal delay (in some patients)
motor delay (in one patient)
generalized cortical atrophy (in one patient)

Head And Neck Neck:
short neck
low posterior hairline
webbed neck (in some patients)

Skeletal Feet:
pes planus
talipes equinovarus
talipes equinovalgus
metatarsus varus
broad ends of toes
more
Head And Neck Head:
brachycephaly

Head And Neck Face:
prominent forehead
midface hypoplasia
micrognathia (in some patients)
microretrognathia (in some patients)
flat face (in one patient)

Skin Nails Hair Hair:
low posterior hairline
thick eyebrows

Skeletal Pelvis:
hip dislocation
mild dysplasia of hip joints
dysmorphic appearance of femoral head (in one patient)
gibbus deformity at l1 level (in one patient)

Head And Neck Mouth:
small mouth
cleft palate (rare)

Cardiovascular Vascular:
aortic root dilatation
pulmonary artery dilation, mild (in one patient)

Abdomen External Features:
inguinal hernia (in some patients)
protrusion of abdomen (in some patients)
diaphragmatic hernia (in some patients)

Skeletal:
hyperextensibility of large joints
generalized osteoporosis (in some patients)
early bone maturation (in some patients)
dissociated bone age (in some patients)
multiple fractures (rare)

Skeletal Hands:
wrist joint laxity
wrist joint dislocation (in some patients)
interphalangeal joint laxity
increased number of carpal ossification centers
metacarpal shortening
more
Muscle Soft Tissue:
hypotonia, generalized (in some patients)

Clinical features from OMIM:

245600

GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.4 B3GAT3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.4 B4GALT7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.4 B3GAT3 B4GALT7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.4 B3GAT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.4 B3GAT3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.4 B4GALT7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.4 B4GALT7
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 B3GAT3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.4 B4GALT7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.4 B3GAT3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 B4GALT7

Drugs & Therapeutics for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search Clinical Trials , NIH Clinical Center for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects

Genetic Tests for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Genetic tests related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

# Genetic test Affiliating Genes
1 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 29 B3GAT3 CHST3

Anatomical Context for Multiple Joint Dislocations, Short Stature, and Craniofacial...

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

40
Heart, Bone, Skin, Eye, Lung

Publications for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Articles related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

(show all 12)
# Title Authors PMID Year
1
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 6 56
26086840 2015
2
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. 56 6
25893793 2015
3
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. 56 6
24668659 2014
4
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 6 56
21763480 2011
5
CHST3-Related Skeletal Dysplasia 6
21882400 2011
6
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
7
Larsen syndrome associated with severe congenital hydrocephalus. 56
11837607 2001
8
Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. 56
10546105 1999
9
Severe cardiac anomalies in sibs with Larsen syndrome. 56
6655668 1983
10
Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. 56
4626580 1972
11
Multiple congenital dislocations associated with characteristic facial abnormality. 56
14779259 1950
12
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61
31988067 2020

Variations for Multiple Joint Dislocations, Short Stature, and Craniofacial...

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B3GAT3 NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter)SNV Pathogenic 577885 rs535206047 11:62388051-62388051 11:62620579-62620579
2 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)SNV Pathogenic 5613 rs28937869 5:177035995-177035995 5:177608994-177608994
3 B3GAT3 NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu)SNV Pathogenic 225764 rs879255269 11:62384658-62384658 11:62617186-62617186
4 B3GAT3 NM_012200.4(B3GAT3):c.667G>A (p.Gly223Ser)SNV Pathogenic 225924 rs372487178 11:62384220-62384220 11:62616748-62616748
5 B3GAT3 NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln)SNV Pathogenic/Likely pathogenic 30573 rs387906937 11:62384057-62384057 11:62616585-62616585
6 COL11A2 NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)SNV Uncertain significance 191205 rs770888294 6:33146854-33146854 6:33179077-33179077
7 B3GAT3 NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser)SNV Uncertain significance 649029 11:62387979-62387979 11:62620507-62620507
8 B3GAT3 NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu)SNV Uncertain significance 548015 rs140755387 11:62384523-62384523 11:62617051-62617051
9 B3GAT3 NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln)SNV Uncertain significance 567412 rs1565074659 11:62383226-62383226 11:62615754-62615754
10 B3GAT3 NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln)SNV Uncertain significance 854700 11:62384183-62384183 11:62616711-62616711
11 B3GAT3 NM_012200.4(B3GAT3):c.930G>A (p.Arg310=)SNV Likely benign 774896 11:62383251-62383251 11:62615779-62615779
12 B3GAT3 NM_012200.4(B3GAT3):c.741G>A (p.Arg247=)SNV Likely benign 717447 11:62384146-62384146 11:62616674-62616674
13 B3GAT3 NM_012200.4(B3GAT3):c.906T>G (p.Thr302=)SNV Likely benign 729929 11:62383981-62383981 11:62616509-62616509
14 B3GAT3 NM_012200.4(B3GAT3):c.277C>T (p.Leu93=)SNV Likely benign 734503 11:62384800-62384800 11:62617328-62617328
15 B3GAT3 NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu)SNV Likely benign 729890 11:62389377-62389377 11:62621905-62621905
16 B3GAT3 NM_012200.4(B3GAT3):c.909+263C>GSNV Benign 802680 11:62383715-62383715 11:62616243-62616243
17 B3GAT3 NM_012200.4(B3GAT3):c.709G>A (p.Val237Met)SNV Benign 784708 11:62384178-62384178 11:62616706-62616706
18 B3GAT3 NM_012200.4(B3GAT3):c.909+263deldeletion Benign 522222 rs753764477 11:62383715-62383715 11:62616243-62616243
19 B3GAT3 NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)SNV Benign 544155 rs112223093 11:62384066-62384066 11:62616594-62616594
20 B3GAT3 NM_012200.4(B3GAT3):c.108C>T (p.Pro36=)SNV Benign 544154 rs75316688 11:62388118-62388118 11:62620646-62620646

UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects:

73
# Symbol AA change Variation ID SNP ID
1 B3GAT3 p.Arg277Gln VAR_066624 rs387906937
2 B3GAT3 p.Pro140Leu VAR_075370 rs879255269

Expression for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Search GEO for disease gene expression data for Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects.

Pathways for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532
2 Glycosaminoglycan biosynthesis - heparan sulfate / heparin hsa00534

Pathways related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.88 CHST3 B4GALT7 B3GAT3
2
Show member pathways
11.31 CHST3 B4GALT7 B3GAT3
3
Show member pathways
10.99 B4GALT7 B3GAT3

GO Terms for Multiple Joint Dislocations, Short Stature, and Craniofacial...

Cellular components related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.13 CHST3 B4GALT7 B3GAT3
2 Golgi membrane GO:0000139 8.8 CHST3 B4GALT7 B3GAT3

Biological processes related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.26 B4GALT7 B3GAT3
2 glycosaminoglycan biosynthetic process GO:0006024 9.16 B4GALT7 B3GAT3
3 glycosaminoglycan metabolic process GO:0030203 8.96 B4GALT7 B3GAT3
4 carbohydrate metabolic process GO:0005975 8.8 CHST3 B4GALT7 B3GAT3

Molecular functions related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.8 CHST3 B4GALT7 B3GAT3

Sources for Multiple Joint Dislocations, Short Stature, and Craniofacial...

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
Content
Loading form....