MCID: B4G002
MIFTS: 22

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards integrated aliases for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

Name: B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 58
Eds with Short Stature and Limb Anomalies 58
B4galt7-Related Spondylodysplastic Eds 58
Eds Progeroid Type 1 58
Speds-B4galt7 58

Characteristics:

Orphanet epidemiological data:

58
b4galt7-related spondylodysplastic ehlers-danlos syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards based summary : B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome, is also known as eds with short stature and limb anomalies. An important gene associated with B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include skin, bone and skeletal muscle, and related phenotypes are macrocephaly and muscular hypotonia

Related Diseases for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Human phenotypes related to B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

58 31 (showing 38, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
8 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
9 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
10 gingivitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000230
11 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
12 long toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010511
13 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
14 pulmonic stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001642
15 testicular torsion 58 31 hallmark (90%) Very frequent (99-80%) HP:0100813
16 hyperextensible skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000974
17 aortic valve stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001650
18 palmoplantar cutis gyrata 58 31 hallmark (90%) Very frequent (99-80%) HP:0007469
19 cutis laxa 58 31 hallmark (90%) Very frequent (99-80%) HP:0000973
20 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
21 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
22 skeletal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0002652
23 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
24 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
25 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
26 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
27 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
28 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
29 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
30 sparse eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000653
31 atrophic scars 58 31 frequent (33%) Frequent (79-30%) HP:0001075
32 sparse and thin eyebrow 31 frequent (33%) HP:0000535
33 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692
34 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
35 abnormality of primary teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006481
36 growth delay 58 Very frequent (99-80%)
37 atypical scarring of skin 58 Frequent (79-30%)
38 sparse eyebrow 58 Frequent (79-30%)

Drugs & Therapeutics for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Genetic Tests for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Anatomical Context for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

40
Skin, Bone, Skeletal Muscle, Eye

Publications for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Articles related to B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

(showing 14, show less)
# Title Authors PMID Year
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 6
29931299 2018
2
Further defining the phenotypic spectrum of B4GALT7 mutations. 6
26940150 2016
3
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 6
24755949 2015
4
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. 6
23956117 2013
5
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 6
23664117 2013
6
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. 6
18158310 2008
7
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 6
15211654 2004
8
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 6
10506123 1999
9
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. 6
10473568 1999
10
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 6
1640425 1992
11
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 6
3631078 1987
12
[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?]. 6
1221956 1975
13
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. 61
31862401 2019
14
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. 61
28882145 2017

Variations for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Expression for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome.

Pathways for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

GO Terms for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Sources for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

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72 UMLS via Orphanet
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