MCID: B4G002
MIFTS: 19

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Categories: Bone diseases, Fetal 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 59
Eds with Short Stature and Limb Anomalies 59
B4galt7-Related Spondylodysplastic Eds 59
Eds Progeroid Type 1 59
Speds-B4galt7 59

Characteristics:

Orphanet epidemiological data:

59
b4galt7-related spondylodysplastic ehlers-danlos syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

MESH via Orphanet 45 C536201
ICD10 via Orphanet 34 Q79.6
UMLS via Orphanet 73 C1869122
Orphanet 59 ORPHA75496

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0001371
7 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
8 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
9 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
10 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
11 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
12 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
13 pulmonic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001642
14 testicular torsion 59 32 hallmark (90%) Very frequent (99-80%) HP:0100813
15 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
16 aortic valve stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001650
17 long toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010511
18 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
19 palmoplantar cutis gyrata 59 32 hallmark (90%) Very frequent (99-80%) HP:0007469
20 cutis laxa 59 32 hallmark (90%) Very frequent (99-80%) HP:0000973
21 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
22 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
23 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
24 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
25 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
26 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
27 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
28 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
29 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
30 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
31 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
32 sparse and thin eyebrow 32 frequent (33%) HP:0000535
33 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
34 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
35 abnormality of primary teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006481
36 growth delay 59 Very frequent (99-80%)
37 atypical scarring of skin 59 Frequent (79-30%)
38 sparse eyebrow 59 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:

41
Skin, Bone, Skeletal Muscle

Publications for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

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

(show all 13)
# Title Authors PMID Year
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 71
29931299 2018
2
Further defining the phenotypic spectrum of B4GALT7 mutations. 71
26940150 2016
3
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 71
24755949 2015
4
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. 71
23956117 2013
5
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 71
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. 71
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. 71
15211654 2004
8
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 71
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. 71
10473568 1999
10
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 71
1640425 1992
11
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 71
3631078 1987
12
[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?]. 71
1221956 1975
13
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. 38
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....