EDSSPD1
MCID: EHL076
MIFTS: 34

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 (EDSSPD1)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

Name: Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 57 72 29 6
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 57 72
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 57 72
Galactosyltransferase I Deficiency 57 72
Xgpt Deficiency 57 72
Edsspd1 57 72
Edssla 57 72
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies; Edssla 57
Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly; Edsp1, Formerly 57
Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly 57
Proteodermatan Sulfate, Defective Biosynthesis of 57
Defective Biosynthesis of Proteodermatan Sulfate 72
Ehlers-Danlos Syndrome Spondylodysplastic Type 1 12
Ehlers-Danlos Syndrome, Progeroid Type, 1 72
Ehlers-Danlos Syndrome, Progeroid Form 70
Pds, Defective Biosynthesis of 57
Dermatan Sulfate Proteoglycan 57
Defective Biosynthesis of Pds 72
Edsp1, Formerly 57
Edsp1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, spondylodysplastic type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, spondylodysplastic type, 1: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.

MalaCards based summary : Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1, also known as ehlers-danlos syndrome with short stature and limb anomalies, is related to spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, spondylodysplastic type, 2. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include eye and bone, and related phenotypes are genu recurvatum and talipes equinovarus

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has material basis in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35.

OMIM® : 57 Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). (130070) (Updated 20-May-2021)

Related Diseases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Diseases in the Spondylodysplastic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondylodysplastic ehlers-danlos syndrome 11.5
2 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
3 corneal dystrophy, congenital stromal 11.3
4 ehlers-danlos syndrome 10.3
5 atherosclerosis susceptibility 10.1
6 scleroderma, familial progressive 10.1
7 osteogenic sarcoma 10.1
8 fibroma 10.1
9 progeroid syndrome 10.1
10 ovarian fibroma 10.1

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Human phenotypes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

31 (show all 50)
# Description HPO Frequency HPO Source Accession
1 genu recurvatum 31 occasional (7.5%) HP:0002816
2 talipes equinovarus 31 occasional (7.5%) HP:0001762
3 mild global developmental delay 31 occasional (7.5%) HP:0011342
4 talipes equinovalgus 31 occasional (7.5%) HP:0001772
5 phalangeal dislocation 31 occasional (7.5%) HP:0006243
6 scoliosis 31 very rare (1%) HP:0002650
7 osteopenia 31 very rare (1%) HP:0000938
8 hypertelorism 31 very rare (1%) HP:0000316
9 short stature 31 very rare (1%) HP:0004322
10 flexion contracture 31 very rare (1%) HP:0001371
11 flat face 31 very rare (1%) HP:0012368
12 micrognathia 31 very rare (1%) HP:0000347
13 low-set ears 31 very rare (1%) HP:0000369
14 motor delay 31 very rare (1%) HP:0001270
15 narrow mouth 31 very rare (1%) HP:0000160
16 recurrent fractures 31 very rare (1%) HP:0002757
17 proptosis 31 very rare (1%) HP:0000520
18 broad forehead 31 very rare (1%) HP:0000337
19 radioulnar synostosis 31 very rare (1%) HP:0002974
20 craniosynostosis 31 very rare (1%) HP:0001363
21 blue sclerae 31 very rare (1%) HP:0000592
22 hyperextensible skin 31 very rare (1%) HP:0000974
23 accelerated skeletal maturation 31 very rare (1%) HP:0005616
24 bifid uvula 31 very rare (1%) HP:0000193
25 dislocated radial head 31 very rare (1%) HP:0003083
26 generalized hypotonia 31 very rare (1%) HP:0001290
27 hypermetropia 31 very rare (1%) HP:0000540
28 atrophic scars 31 very rare (1%) HP:0001075
29 flared metaphysis 31 very rare (1%) HP:0003015
30 macrocephaly 31 HP:0000256
31 failure to thrive 31 HP:0001508
32 bowing of the long bones 31 HP:0006487
33 wide nasal bridge 31 HP:0000431
34 pectus carinatum 31 HP:0000768
35 pes planus 31 HP:0001763
36 joint laxity 31 HP:0001388
37 arachnodactyly 31 HP:0001166
38 sparse scalp hair 31 HP:0002209
39 narrow chest 31 HP:0000774
40 coxa valga 31 HP:0002673
41 midface retrusion 31 HP:0011800
42 single transverse palmar crease 31 HP:0000954
43 slender toe 31 HP:0011308
44 short clavicles 31 HP:0000894
45 absent earlobe 31 HP:0000387
46 palmoplantar cutis gyrata 31 HP:0007469
47 long toe 31 HP:0010511
48 small face 31 HP:0000274
49 flat forehead 31 HP:0004425
50 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Skeletal:
osteopenia
advanced bone age

Skeletal Feet:
pes planus
long, slender toes
talipes equinovarus (in some patients)
talipes equinovalgus (in some patients)

Head And Neck Ears:
low-set ears
absent ear lobes

Chest External Features:
narrow chest

Head And Neck Face:
small face
midface hypoplasia
broad, flat forehead

Head And Neck Nose:
broad nasal bridge

Head And Neck Eyes:
prominent eyes
hypertelorism (in some patients)
severe hypermetropia (in some patients)
blue sclerae (rare)

Skeletal Spine:
scoliosis (in some patients)

Skin Nails Hair Skin:
transverse palmar creases
loose, elastic skin
thin, atrophic scars
cutis gyrata of palms and soles
delayed wound healing

Laboratory Abnormalities:
galactosyltransferase i deficiency in fibroblasts

Growth Other:
failure to thrive

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short clavicles

Growth Height:
short stature

Skeletal Limbs:
joint laxity
radioulnar synostosis
bowing of long bones
genu recurvatum (in some patients)

Skeletal Pelvis:
coxa valga

Neurologic Central Nervous System:
hypotonia
psychomotor retardation, mild (in some patients)

Head And Neck Mouth:
small mouth
protruding lips (in some patients)
bifid uvula (rare)
cleft palate (rare)

Head And Neck Teeth:
poorly implanted teeth (in some patients)
cavity-prone teeth (in some patients)

Skeletal Hands:
transverse palmar creases
long, slender fingers
phalangeal dislocation (in some patients)

Skin Nails Hair Hair:
sparse scalp hair (in some patients)

Clinical features from OMIM®:

130070 (Updated 20-May-2021)

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Genetic Tests for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Genetic tests related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 29 B4GALT7

Anatomical Context for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

40
Eye, Bone

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Articles related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

(show all 17)
# Title Authors PMID Year
1
Further defining the phenotypic spectrum of B4GALT7 mutations. 57 61 6
26940150 2016
2
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 57 6
24755949 2015
3
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. 57 6
23956117 2013
4
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 57
15211654 2004
5
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 57 6
10506123 1999
6
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 57
10473568 1999
7
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 57 6
1640425 1992
8
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 57 6
3631078 1987
9
[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?]. 57 6
1221956 1975
10
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. 61 57
2106134 1990
11
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
12
Larsen syndrome in siblings with consanguineous parents. 57
7526939 1994
13
Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. 57
3815877 1986
14
Primary structure of an extracellular matrix proteoglycan core protein deduced from cloned cDNA. 57
3484330 1986
15
Third case of a distinct variant of the Ehlers-Danlos Syndrome (EDS). 57
7307320 1981
16
A distinct variant of the Ehlers-Danlos syndrome. 57
519906 1979
17
Multiple congenital dislocations associated with characteristic facial abnormality. 57
14779259 1950

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B4GALT7 NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) SNV Pathogenic 5611 rs121917817 GRCh37: 5:177034446-177034446
GRCh38: 5:177607445-177607445
2 B4GALT7 NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) SNV Pathogenic 5612 rs121917818 GRCh37: 5:177034506-177034506
GRCh38: 5:177607505-177607505
3 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) SNV Pathogenic 5613 rs28937869 GRCh37: 5:177035995-177035995
GRCh38: 5:177608994-177608994
4 B4GALT7 NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) SNV Pathogenic 225691 rs375845310 GRCh37: 5:177031251-177031251
GRCh38: 5:177604250-177604250
5 B4GALT7 NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) SNV Pathogenic 253110 rs753594601 GRCh37: 5:177035541-177035541
GRCh38: 5:177608540-177608540
6 B4GALT7 NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) SNV Pathogenic 253108 rs187063864 GRCh37: 5:177034310-177034310
GRCh38: 5:177607309-177607309
7 B4GALT7 NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) SNV Pathogenic 978463 rs1481659687 GRCh37: 5:177036541-177036541
GRCh38: 5:177609540-177609540
8 B4GALT7 NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) SNV Pathogenic 1029149 GRCh37: 5:177031354-177031354
GRCh38: 5:177604353-177604353
9 B4GALT7 NM_007255.3(B4GALT7):c.277dup (p.His93fs) Duplication Conflicting interpretations of pathogenicity 253109 rs879255634 GRCh37: 5:177031401-177031402
GRCh38: 5:177604400-177604401
10 B4GALT7 NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) SNV Conflicting interpretations of pathogenicity 374581 rs142476892 GRCh37: 5:177031406-177031406
GRCh38: 5:177604405-177604405
11 B4GALT7 NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) SNV Uncertain significance 585081 rs373059256 GRCh37: 5:177031314-177031314
GRCh38: 5:177604313-177604313
12 B4GALT7 NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) SNV Uncertain significance 197288 rs756942664 GRCh37: 5:177035587-177035587
GRCh38: 5:177608586-177608586
13 B4GALT7 NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) SNV Uncertain significance 646681 rs1468472910 GRCh37: 5:177035562-177035562
GRCh38: 5:177608561-177608561
14 B4GALT7 NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His) Inversion Uncertain significance 647607 GRCh37: 5:177031347-177031348
GRCh38: 5:177604346-177604347
15 B4GALT7 NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) SNV Uncertain significance 282261 rs200503833 GRCh37: 5:177027249-177027249
GRCh38: 5:177600248-177600248
16 B4GALT7 NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) SNV Uncertain significance 1033201 GRCh37: 5:177036671-177036671
GRCh38: 5:177609670-177609670
17 B4GALT7 NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) SNV Uncertain significance 1009378 GRCh37: 5:177031407-177031407
GRCh38: 5:177604406-177604406
18 B4GALT7 NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) SNV Uncertain significance 1023417 GRCh37: 5:177035558-177035558
GRCh38: 5:177608557-177608557
19 B4GALT7 NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) SNV Uncertain significance 1024894 GRCh37: 5:177035948-177035948
GRCh38: 5:177608947-177608947
20 B4GALT7 NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) SNV Uncertain significance 849803 GRCh37: 5:177031503-177031503
GRCh38: 5:177604502-177604502
21 B4GALT7 NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) SNV Uncertain significance 389383 rs146632722 GRCh37: 5:177036001-177036001
GRCh38: 5:177609000-177609000
22 B4GALT7 NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) SNV Likely benign 783627 rs780427259 GRCh37: 5:177031354-177031354
GRCh38: 5:177604353-177604353
23 B4GALT7 NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) SNV Likely benign 798136 rs147617631 GRCh37: 5:177035597-177035597
GRCh38: 5:177608596-177608596
24 B4GALT7 NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) SNV Likely benign 390360 rs200124872 GRCh37: 5:177031516-177031516
GRCh38: 5:177604515-177604515
25 B4GALT7 NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) SNV Likely benign 728291 rs200732558 GRCh37: 5:177034478-177034478
GRCh38: 5:177607477-177607477
26 B4GALT7 NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) SNV Likely benign 748354 rs201489289 GRCh37: 5:177035576-177035576
GRCh38: 5:177608575-177608575
27 B4GALT7 NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) SNV Benign/Likely benign 285266 rs142951817 GRCh37: 5:177031540-177031540
GRCh38: 5:177604539-177604539
28 B4GALT7 NM_007255.3(B4GALT7):c.413+60C>G SNV Benign 678008 rs28499092 GRCh37: 5:177031602-177031602
GRCh38: 5:177604601-177604601
29 B4GALT7 NM_007255.3(B4GALT7):c.297G>T (p.Val99=) SNV Benign 386362 rs114036939 GRCh37: 5:177031426-177031426
GRCh38: 5:177604425-177604425
30 B4GALT7 NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) SNV Benign 383778 rs11537644 GRCh37: 5:177031348-177031348
GRCh38: 5:177604347-177604347
31 B4GALT7 NM_007255.3(B4GALT7):c.777T>C (p.His259=) SNV Benign 377547 rs729459 GRCh37: 5:177035964-177035964
GRCh38: 5:177608963-177608963
32 B4GALT7 NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) SNV not provided 684548 rs926913315 GRCh37: 5:177031412-177031412
GRCh38: 5:177604411-177604411

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1:

72
# Symbol AA change Variation ID SNP ID
1 B4GALT7 p.Ala186Asp VAR_010293 rs121917817
2 B4GALT7 p.Leu206Pro VAR_010294 rs121917818

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1.

Pathways for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

GO Terms for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Sources for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

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