JDSCD
MCID: MLT123
MIFTS: 36

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects (JDSCD) malady

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

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

Aliases & Descriptions for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

Name: Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 54 24 13
Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome 56 29
Multiple Joint Dislocations, Short Stature, and Craniofacial Dysmorphism with or Without Congenital Heart Defects 66
Larsen Syndrome, Autosomal Recessive, Formerly 24
Autosomal Recessive Larsen Syndrome 66
Larsen-Like Syndrome, B3gat3 Type 56
Larsen-Like Syndrome B3gat3 Type 66
Larsen Syndrome, Recessive Type 69
Larsen-Like Syndrome 66
Jdscd 66

Characteristics:

Orphanet epidemiological data:

56
larsen-like syndrome, b3gat3 type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 245600
Orphanet 56 ORPHA284139
ICD10 via Orphanet 34 Q74.8

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

OMIM : 54 This autosomal recessive phenotype consists of dysmorphic facies, bilateral dislocations of the elbows, hips, and... (245600) more...

MalaCards based summary : Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects, also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome, is related to larsen-like syndrome and larsen-like syndrome, lethal type, and has symptoms including joint laxity, hypertelorism and low-set ears. An important gene associated with Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and 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 skin, and related phenotype is Increased shRNA abundance (Z-score > 2).

UniProtKB/Swiss-Prot : 66 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.

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

Diseases related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 larsen-like syndrome 12.3
2 larsen-like syndrome, lethal type 12.1
3 spondyloepiphyseal dysplasia with congenital joint dislocations 10.9
4 larsen syndrome 9.9
5 craniosynostosis 9.9
6 skeletal dysplasias 9.9
7 skeletal dysplasia 9.9
8 hemochromatosis, type 5 9.8 B3GAT3 B4GALT7

Graphical network of the top 20 diseases related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:



Diseases related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects

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

Symptoms by clinical synopsis from OMIM:

245600

Clinical features from OMIM:

245600

Human phenotypes related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

32 (show top 50) (show all 64)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 frontal bossing 32 HP:0002007
6 genu valgum 32 HP:0002857
7 hydrocephalus 32 HP:0000238
8 osteopenia 32 HP:0000938
9 scoliosis 32 HP:0002650
10 inguinal hernia 32 HP:0000023
11 delayed skeletal maturation 32 HP:0002750
12 depressed nasal bridge 32 HP:0005280
13 pectus carinatum 32 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 brachycephaly 32 HP:0000248
19 cardiomegaly 32 HP:0001640
20 prominent forehead 32 HP:0011220
21 cleft palate 32 HP:0000175
22 narrow chest 32 HP:0000774
23 microdontia 32 HP:0000691
24 metatarsus adductus 32 HP:0001840
25 flat face 32 HP:0012368
26 low posterior hairline 32 HP:0002162
27 webbed neck 32 HP:0000465
28 bicuspid aortic valve 32 HP:0001647
29 hip dislocation 32 HP:0002827
30 left ventricular hypertrophy 32 HP:0001712
31 mitral valve prolapse 32 HP:0001634
32 downslanted palpebral fissures 32 HP:0000494
33 narrow mouth 32 HP:0000160
34 sandal gap 32 HP:0001852
35 talipes equinovarus 32 HP:0001762
36 amblyopia 32 HP:0000646
37 radioulnar synostosis 32 HP:0002974
38 microretrognathia 32 HP:0000308
39 blue sclerae 32 HP:0000592
40 hyperextensible skin 32 HP:0000974
41 motor delay 32 HP:0001270
42 congenital diaphragmatic hernia 32 HP:0000776
43 accelerated skeletal maturation 32 HP:0005616
44 shoulder dislocation 32 HP:0003834
45 generalized hypotonia 32 HP:0001290
46 esotropia 32 HP:0000565
47 patent foramen ovale 32 HP:0001655
48 congenital glaucoma 32 HP:0001087
49 talipes equinovalgus 32 HP:0001772
50 aortic root dilatation 32 HP:0002616

GenomeRNAi Phenotypes related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 B4GALT7 B3GAT3
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, Craniofacial...

Search Clinical Trials , NIH Clinical Center for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects

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

Genetic tests related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

id Genetic test Affiliating Genes
1 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 29 24 B3GAT3

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

MalaCards organs/tissues related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

39
Heart, Bone, Skin, Eye

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

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

UniProtKB/Swiss-Prot genetic disease variations for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

66
id Symbol AA change Variation ID SNP ID
1 B3GAT3 p.Arg277Gln VAR_066624 rs387906937
2 B3GAT3 p.Pro140Leu VAR_075370

ClinVar genetic disease variations for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
2 B3GAT3 NM_012200.3(B3GAT3): c.830G> A (p.Arg277Gln) single nucleotide variant Pathogenic/Likely pathogenic rs387906937 GRCh37 Chromosome 11, 62384057: 62384057

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

Search GEO for disease gene expression data for Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects.

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

Pathways related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 B3GAT3 B4GALT7
2
Show member pathways
11.46 B3GAT3 B4GALT7
3
Show member pathways
10.46 B3GAT3 B4GALT7

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

Cellular components related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.62 B3GAT3 B4GALT7

Biological processes related to Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.26 B3GAT3 B4GALT7
2 protein glycosylation GO:0006486 9.16 B3GAT3 B4GALT7
3 glycosaminoglycan biosynthetic process GO:0006024 8.96 B3GAT3 B4GALT7
4 glycosaminoglycan metabolic process GO:0030203 8.62 B3GAT3 B4GALT7

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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