MCID: MLT162
MIFTS: 38

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

Categories: Genetic diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Fetal 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 75
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 37 29 13 6
Larsen-Like Syndrome, B3gat3 Type 59 6
Jdscd 57 75
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, and Craniofacial Dysmorphism with Congenital Heart Defects 6
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome 59
Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects 40
Larsen Syndrome, Autosomal Recessive, Formerly 57
Autosomal Recessive Larsen Syndrome 75
Larsen-Like Syndrome B3gat3 Type 75
Larsen Syndrome, Recessive Type 73
Larsen-Like Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, is related to larsen syndrome and larsen-like 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, skin and bone, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 245600

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

Diseases related to Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 larsen syndrome 28.4 B4GALT7 CHST3
2 larsen-like syndrome 12.4
3 larsen-like syndrome, lethal type 12.2
4 spondyloepiphyseal dysplasia with congenital joint dislocations 11.1
5 craniosynostosis 10.0
6 skeletal dysplasias 10.0
7 cleft tongue 9.9

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...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
small ears
dysmorphic ears
prominent antitragus (in some patients)
uplift of earlobes (in some patients)

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

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

Head And Neck Eyes:
amblyopia
esotropia
large eyes
downslanting palpebral fissures
hyperopia
more
Head And Neck Mouth:
small mouth
cleft palate (rare)

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)

Head And Neck Nose:
depressed nasal bridge

Growth Height:
short stature

Cardiovascular Heart:
cardiomegaly
atrial septal defect
bicuspid aortic valve
left ventricular hypertrophy
mitral valve prolapse
more
Chest External Features:
narrow chest
chest asymmetry, mild

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)

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

Head And Neck Teeth:
small teeth
extensive caries

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

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

32 (show top 50) (show all 71)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 short neck 32 HP:0000470
4 frontal bossing 32 HP:0002007
5 genu valgum 32 occasional (7.5%) HP:0002857
6 hydrocephalus 32 HP:0000238
7 osteopenia 32 HP:0000938
8 muscular hypotonia 32 HP:0001252
9 scoliosis 32 HP:0002650
10 inguinal hernia 32 occasional (7.5%) HP:0000023
11 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
12 depressed nasal bridge 32 HP:0005280
13 pectus carinatum 32 occasional (7.5%) HP:0000768
14 pes planus 32 HP:0001763
15 microtia 32 HP:0008551
16 thick eyebrow 32 HP:0000574
17 short stature 32 HP:0004322
18 osteoporosis 32 HP:0000939
19 brachycephaly 32 HP:0000248
20 cardiomegaly 32 HP:0001640
21 prominent forehead 32 HP:0011220
22 cleft palate 32 HP:0000175
23 narrow chest 32 HP:0000774
24 microdontia 32 HP:0000691
25 metatarsus adductus 32 HP:0001840
26 flat face 32 occasional (7.5%) HP:0012368
27 webbed neck 32 occasional (7.5%) HP:0000465
28 low posterior hairline 32 HP:0002162
29 bicuspid aortic valve 32 HP:0001647
30 hip dislocation 32 HP:0002827
31 rhizomelia 32 occasional (7.5%) HP:0008905
32 left ventricular hypertrophy 32 HP:0001712
33 mitral valve prolapse 32 HP:0001634
34 downslanted palpebral fissures 32 HP:0000494
35 narrow mouth 32 HP:0000160
36 joint laxity 32 HP:0001388
37 sandal gap 32 occasional (7.5%) HP:0001852
38 talipes equinovarus 32 HP:0001762
39 amblyopia 32 HP:0000646
40 recurrent fractures 32 occasional (7.5%) HP:0002757
41 radioulnar synostosis 32 HP:0002974
42 midface retrusion 32 HP:0011800
43 microretrognathia 32 occasional (7.5%) HP:0000308
44 blue sclerae 32 occasional (7.5%) HP:0000592
45 hyperextensible skin 32 occasional (7.5%) HP:0000974
46 motor delay 32 occasional (7.5%) HP:0001270
47 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
48 accelerated skeletal maturation 32 HP:0005616
49 shoulder dislocation 32 occasional (7.5%) HP:0003834
50 generalized hypotonia 32 occasional (7.5%) HP:0001290

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 B3GAT3 B4GALT7
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.32 B3GAT3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.32 B4GALT7
4 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.32 B3GAT3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.32 B3GAT3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 B3GAT3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.32 B4GALT7
8 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.32 B3GAT3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.32 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:

41
Heart, Skin, Bone, 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:

# Title Authors Year
1
Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome). ( 24300290 )
2014

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

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

75
# Symbol AA change Variation ID SNP ID
1 B3GAT3 p.Arg277Gln VAR_066624 rs387906937
2 B3GAT3 p.Pro140Leu VAR_075370 rs879255269

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
2 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh38 Chromosome 5, 177608994: 177608994
3 B3GAT3 NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln) single nucleotide variant Likely pathogenic rs387906937 GRCh37 Chromosome 11, 62384057: 62384057
4 B3GAT3 NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln) single nucleotide variant Likely pathogenic rs387906937 GRCh38 Chromosome 11, 62616585: 62616585
5 COL11A2 NM_080680.2(COL11A2): c.1607G> A (p.Arg536Gln) single nucleotide variant Uncertain significance rs770888294 GRCh37 Chromosome 6, 33146854: 33146854
6 COL11A2 NM_080680.2(COL11A2): c.1607G> A (p.Arg536Gln) single nucleotide variant Uncertain significance rs770888294 GRCh38 Chromosome 6, 33179077: 33179077
7 B3GAT3 NM_012200.3(B3GAT3): c.419C> T (p.Pro140Leu) single nucleotide variant Pathogenic rs879255269 GRCh38 Chromosome 11, 62617186: 62617186
8 B3GAT3 NM_012200.3(B3GAT3): c.419C> T (p.Pro140Leu) single nucleotide variant Pathogenic rs879255269 GRCh37 Chromosome 11, 62384658: 62384658
9 B3GAT3 NM_012200.3(B3GAT3): c.667G> A (p.Gly223Ser) single nucleotide variant Pathogenic rs372487178 GRCh37 Chromosome 11, 62384220: 62384220
10 B3GAT3 NM_012200.3(B3GAT3): c.667G> A (p.Gly223Ser) single nucleotide variant Pathogenic rs372487178 GRCh38 Chromosome 11, 62616748: 62616748
11 B3GAT3 NM_001288723.1(B3GAT3): c.910-3delC deletion Benign rs753764477 GRCh37 Chromosome 11, 62383715: 62383715
12 B3GAT3 NM_001288723.1(B3GAT3): c.910-3delC deletion Benign rs753764477 GRCh38 Chromosome 11, 62616243: 62616243
13 B3GAT3 NM_012200.3(B3GAT3): c.821C> A (p.Thr274Asn) single nucleotide variant Benign rs112223093 GRCh38 Chromosome 11, 62616594: 62616594
14 B3GAT3 NM_012200.3(B3GAT3): c.821C> A (p.Thr274Asn) single nucleotide variant Benign rs112223093 GRCh37 Chromosome 11, 62384066: 62384066
15 B3GAT3 NM_012200.3(B3GAT3): c.108C> T (p.Pro36=) single nucleotide variant Benign rs75316688 GRCh38 Chromosome 11, 62620646: 62620646
16 B3GAT3 NM_012200.3(B3GAT3): c.108C> T (p.Pro36=) single nucleotide variant Benign rs75316688 GRCh37 Chromosome 11, 62388118: 62388118

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:

37
# 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 B3GAT3 B4GALT7 CHST3
2
Show member pathways
11.31 B3GAT3 B4GALT7 CHST3
3
Show member pathways
10.99 B3GAT3 B4GALT7

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 B3GAT3 B4GALT7 CHST3
2 Golgi membrane GO:0000139 8.8 B3GAT3 B4GALT7 CHST3

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 B3GAT3 B4GALT7
2 glycosaminoglycan biosynthetic process GO:0006024 9.16 B3GAT3 B4GALT7
3 glycosaminoglycan metabolic process GO:0030203 8.96 B3GAT3 B4GALT7
4 carbohydrate metabolic process GO:0005975 8.8 B3GAT3 B4GALT7 CHST3

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 B3GAT3 B4GALT7 CHST3

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

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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