JDSCD
MCID: MLT162
MIFTS: 39

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 57 72 6
Jdscd 57 72
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, with or Without Congenital Heart Defects 57
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism Without Congenital Heart Defects 6
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome 58
Larsen Syndrome, Autosomal Recessive, Formerly 57
Autosomal Recessive Larsen Syndrome 72
Larsen-Like Syndrome, B3gat3 Type 58
Larsen-Like Syndrome B3gat3 Type 72
Larsen Syndrome, Recessive Type 70
Larsen-Like Syndrome 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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...

UniProtKB/Swiss-Prot : 72 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.

MalaCards based summary : Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects, also known as jdscd, is related to larsen-like syndrome b3gat3 type and spondyloepiphyseal dysplasia with congenital joint dislocations. 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 metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include heart, bone and lung, and related phenotypes are delayed skeletal maturation and inguinal hernia

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 80)
# 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 congenital diaphragmatic hernia 31 occasional (7.5%) HP:0000776
7 microretrognathia 31 occasional (7.5%) HP:0000308
8 hyperextensible skin 31 occasional (7.5%) HP:0000974
9 shoulder dislocation 31 occasional (7.5%) HP:0003834
10 rhizomelia 31 occasional (7.5%) HP:0008905
11 11 pairs of ribs 31 occasional (7.5%) HP:0000878
12 generalized osteoporosis 31 occasional (7.5%) HP:0040160
13 prominent antitragus 31 occasional (7.5%) HP:0008593
14 metacarpophalangeal joint hyperextensibility 31 occasional (7.5%) HP:0006099
15 frontal bossing 31 very rare (1%) HP:0002007
16 osteopenia 31 very rare (1%) HP:0000938
17 depressed nasal bridge 31 very rare (1%) HP:0005280
18 pes planus 31 very rare (1%) HP:0001763
19 short stature 31 very rare (1%) HP:0004322
20 low-set ears 31 very rare (1%) HP:0000369
21 webbed neck 31 very rare (1%) HP:0000465
22 motor delay 31 very rare (1%) HP:0001270
23 joint hypermobility 31 very rare (1%) HP:0001382
24 downslanted palpebral fissures 31 very rare (1%) HP:0000494
25 narrow mouth 31 very rare (1%) HP:0000160
26 sandal gap 31 very rare (1%) HP:0001852
27 long philtrum 31 very rare (1%) HP:0000343
28 platyspondyly 31 very rare (1%) HP:0000926
29 recurrent fractures 31 very rare (1%) HP:0002757
30 proptosis 31 very rare (1%) HP:0000520
31 broad forehead 31 very rare (1%) HP:0000337
32 hallux valgus 31 very rare (1%) HP:0001822
33 radioulnar synostosis 31 very rare (1%) HP:0002974
34 craniosynostosis 31 very rare (1%) HP:0001363
35 blue sclerae 31 very rare (1%) HP:0000592
36 midface retrusion 31 very rare (1%) HP:0011800
37 dislocated radial head 31 very rare (1%) HP:0003083
38 generalized hypotonia 31 very rare (1%) HP:0001290
39 flared metaphysis 31 very rare (1%) HP:0003015
40 multiple joint dislocation 31 very rare (1%) HP:0012095
41 scoliosis 31 HP:0002650
42 hydrocephalus 31 HP:0000238
43 short neck 31 HP:0000470
44 hypertelorism 31 HP:0000316
45 microtia 31 HP:0008551
46 thick eyebrow 31 HP:0000574
47 brachycephaly 31 HP:0000248
48 cardiomegaly 31 HP:0001640
49 prominent forehead 31 HP:0011220
50 microdontia 31 HP:0000691

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
osteopenia evident in childhood
atlanto-axial instability (in one patient)
atlanto-occipital instability (in one patient)

Head And Neck Nose:
depressed nasal bridge

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 (Updated 05-Apr-2021)

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...

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, 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 11)
# Title Authors PMID Year
1
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. 61 6 57
31988067 2020
2
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype. 57 6
26754439 2016
3
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. 6 57
25893793 2015
4
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. 57 6
21763480 2011
5
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. 57
26086840 2015
6
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. 57
24668659 2014
7
Larsen syndrome associated with severe congenital hydrocephalus. 57
11837607 2001
8
Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters. 57
10546105 1999
9
Severe cardiac anomalies in sibs with Larsen syndrome. 57
6655668 1983
10
Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings. 57
4626580 1972
11
Multiple congenital dislocations associated with characteristic facial abnormality. 57
14779259 1950

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 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GAT3 NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) SNV Pathogenic 577885 rs535206047 GRCh37: 11:62388051-62388051
GRCh38: 11:62620579-62620579
2 B3GAT3 NM_012200.4(B3GAT3):c.419C>T (p.Pro140Leu) SNV Pathogenic 225764 rs879255269 GRCh37: 11:62384658-62384658
GRCh38: 11:62617186-62617186
3 B3GAT3 NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) SNV Pathogenic 981501 GRCh37: 11:62384572-62384572
GRCh38: 11:62617100-62617100
4 B3GAT3 NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) SNV Pathogenic 30573 rs387906937 GRCh37: 11:62384057-62384057
GRCh38: 11:62616585-62616585
5 B3GAT3 NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) SNV Pathogenic 978466 rs765246909 GRCh37: 11:62384596-62384596
GRCh38: 11:62617124-62617124
6 B3GAT3 NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) SNV Pathogenic 978467 rs759636773 GRCh37: 11:62383998-62383998
GRCh38: 11:62616526-62616526
7 B3GAT3 NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) SNV Pathogenic 620480 rs377340567 GRCh37: 11:62384214-62384214
GRCh38: 11:62616742-62616742
8 B3GAT3 NM_012200.4(B3GAT3):c.914del (p.Leu305fs) Deletion Pathogenic 1032552 GRCh37: 11:62383267-62383267
GRCh38: 11:62615795-62615795
9 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) SNV Likely pathogenic 5613 rs28937869 GRCh37: 5:177035995-177035995
GRCh38: 5:177608994-177608994
10 B3GAT3 NM_012200.4(B3GAT3):c.424G>A (p.Ala142Thr) SNV Uncertain significance 1007316 GRCh37: 11:62384653-62384653
GRCh38: 11:62617181-62617181
11 B3GAT3 NM_012200.4(B3GAT3):c.32C>T (p.Ala11Val) SNV Uncertain significance 1010876 GRCh37: 11:62389388-62389388
GRCh38: 11:62621916-62621916
12 B3GAT3 NM_012200.4(B3GAT3):c.302G>C (p.Ser101Thr) SNV Uncertain significance 1021259 GRCh37: 11:62384775-62384775
GRCh38: 11:62617303-62617303
13 B3GAT3 NM_012200.4(B3GAT3):c.704G>A (p.Arg235Gln) SNV Uncertain significance 854700 GRCh37: 11:62384183-62384183
GRCh38: 11:62616711-62616711
14 B3GAT3 NM_012200.4(B3GAT3):c.980G>A (p.Arg327Gln) SNV Uncertain significance 1029180 GRCh37: 11:62383201-62383201
GRCh38: 11:62615729-62615729
15 B3GAT3 NM_012200.4(B3GAT3):c.58CTC[1] (p.Leu21del) Microsatellite Uncertain significance 1035403 GRCh37: 11:62389357-62389359
GRCh38: 11:62621885-62621887
16 B3GAT3 NM_012200.4(B3GAT3):c.167C>T (p.Ala56Val) SNV Uncertain significance 1040028 GRCh37: 11:62388059-62388059
GRCh38: 11:62620587-62620587
17 B3GAT3 NM_012200.4(B3GAT3):c.506G>A (p.Arg169Gln) SNV Uncertain significance 1041636 GRCh37: 11:62384571-62384571
GRCh38: 11:62617099-62617099
18 B3GAT3 NM_012200.4(B3GAT3):c.992del (p.Pro331fs) Deletion Uncertain significance 936655 GRCh37: 11:62383189-62383189
GRCh38: 11:62615717-62615717
19 B3GAT3 NM_012200.4(B3GAT3):c.95A>G (p.Asp32Gly) SNV Uncertain significance 936692 GRCh37: 11:62388131-62388131
GRCh38: 11:62620659-62620659
20 B3GAT3 NM_012200.4(B3GAT3):c.955G>C (p.Glu319Gln) SNV Uncertain significance 567412 rs1565074659 GRCh37: 11:62383226-62383226
GRCh38: 11:62615754-62615754
21 B3GAT3 NM_012200.4(B3GAT3):c.554G>A (p.Gly185Glu) SNV Uncertain significance 548015 rs140755387 GRCh37: 11:62384523-62384523
GRCh38: 11:62617051-62617051
22 COL11A2 NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln) SNV Uncertain significance 191205 rs770888294 GRCh37: 6:33146854-33146854
GRCh38: 6:33179077-33179077
23 B3GAT3 NM_012200.4(B3GAT3):c.247A>T (p.Thr83Ser) SNV Uncertain significance 649029 rs1590779613 GRCh37: 11:62387979-62387979
GRCh38: 11:62620507-62620507
24 B3GAT3 NM_012200.4(B3GAT3):c.741G>A (p.Arg247=) SNV Likely benign 717447 rs151230659 GRCh37: 11:62384146-62384146
GRCh38: 11:62616674-62616674
25 B3GAT3 NM_012200.4(B3GAT3):c.43G>C (p.Val15Leu) SNV Likely benign 729890 rs150651989 GRCh37: 11:62389377-62389377
GRCh38: 11:62621905-62621905
26 B3GAT3 NM_012200.4(B3GAT3):c.906T>G (p.Thr302=) SNV Likely benign 729929 rs111242496 GRCh37: 11:62383981-62383981
GRCh38: 11:62616509-62616509
27 B3GAT3 NM_012200.4(B3GAT3):c.277C>T (p.Leu93=) SNV Likely benign 734503 rs201779956 GRCh37: 11:62384800-62384800
GRCh38: 11:62617328-62617328
28 B3GAT3 NM_012200.4(B3GAT3):c.930G>A (p.Arg310=) SNV Likely benign 774896 rs147883248 GRCh37: 11:62383251-62383251
GRCh38: 11:62615779-62615779
29 B3GAT3 NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) SNV Benign 784708 rs140378202 GRCh37: 11:62384178-62384178
GRCh38: 11:62616706-62616706
30 B3GAT3 NM_012200.4(B3GAT3):c.909+263C>G SNV Benign 802680 rs12794886 GRCh37: 11:62383715-62383715
GRCh38: 11:62616243-62616243
31 B3GAT3 NM_012200.4(B3GAT3):c.909+263del Deletion Benign 522222 rs753764477 GRCh37: 11:62383715-62383715
GRCh38: 11:62616243-62616243
32 B3GAT3 NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) SNV Benign 544154 rs75316688 GRCh37: 11:62388118-62388118
GRCh38: 11:62620646-62620646
33 B3GAT3 NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) SNV Benign 544155 rs112223093 GRCh37: 11:62384066-62384066
GRCh38: 11:62616594-62616594

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

72
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 B4GALT7 B3GAT3
2
Show member pathways
11.46 B4GALT7 B3GAT3
3
Show member pathways
10.46 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 membrane GO:0000139 8.62 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 carbohydrate metabolic process GO:0005975 9.26 B4GALT7 B3GAT3
2 protein glycosylation GO:0006486 9.16 B4GALT7 B3GAT3
3 glycosaminoglycan biosynthetic process GO:0006024 8.96 B4GALT7 B3GAT3
4 glycosaminoglycan metabolic process GO:0030203 8.62 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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....