EDSSPD1
MCID: EHL076
MIFTS: 29

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic 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 58 76
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 58 76
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 58 76
Galactosyltransferase I Deficiency 58 76
Xgpt Deficiency 58 76
Edsspd1 58 76
Edssla 58 76
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies; Edssla 58
Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly; Edsp1, Formerly 58
Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly 58
Syndrome, Ehlers-Danlos, Spondylodysplastic, Type 1 41
Proteodermatan Sulfate, Defective Biosynthesis of 58
Defective Biosynthesis of Proteodermatan Sulfate 76
Ehlers-Danlos Syndrome, Progeroid Type, 1 76
Ehlers-Danlos Syndrome, Progeroid Form 74
Pds, Defective Biosynthesis of 58
Dermatan Sulfate Proteoglycan 58
Defective Biosynthesis of Pds 76
Edsp1, Formerly 58
Edsp1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ehlers-danlos syndrome, spondylodysplastic type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

UniProtKB/Swiss-Prot : 76 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 ehlers-danlos syndrome progeroid type and spondylodysplastic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and scoliosis

OMIM : 58 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)

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
B3galt6-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 ehlers-danlos syndrome progeroid type 11.6
2 spondylodysplastic ehlers-danlos syndrome 11.6
3 disorganization, mouse, homolog of 10.3
4 alzheimer disease 10.1
5 burn scar 10.1
6 ehlers-danlos syndrome 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:

33 (show all 41)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 scoliosis 33 occasional (7.5%) HP:0002650
3 cleft palate 33 occasional (7.5%) HP:0000175
4 genu recurvatum 33 occasional (7.5%) HP:0002816
5 talipes equinovarus 33 occasional (7.5%) HP:0001762
6 blue sclerae 33 occasional (7.5%) HP:0000592
7 mild global developmental delay 33 occasional (7.5%) HP:0011342
8 talipes equinovalgus 33 occasional (7.5%) HP:0001772
9 phalangeal dislocation 33 occasional (7.5%) HP:0006243
10 macrocephaly 33 HP:0000256
11 low-set ears 33 HP:0000369
12 osteopenia 33 HP:0000938
13 muscular hypotonia 33 HP:0001252
14 failure to thrive 33 HP:0001508
15 global developmental delay 33 HP:0001263
16 bowing of the long bones 33 HP:0006487
17 wide nasal bridge 33 HP:0000431
18 pectus carinatum 33 HP:0000768
19 pes planus 33 HP:0001763
20 short stature 33 HP:0004322
21 narrow chest 33 HP:0000774
22 coxa valga 33 HP:0002673
23 joint laxity 33 HP:0001388
24 arachnodactyly 33 HP:0001166
25 narrow mouth 33 HP:0000160
26 sparse scalp hair 33 HP:0002209
27 radioulnar synostosis 33 HP:0002974
28 midface retrusion 33 HP:0011800
29 proptosis 33 HP:0000520
30 accelerated skeletal maturation 33 HP:0005616
31 bifid uvula 33 HP:0000193
32 generalized hypotonia 33 HP:0001290
33 single transverse palmar crease 33 HP:0000954
34 short clavicles 33 HP:0000894
35 absent earlobe 33 HP:0000387
36 long toe 33 HP:0010511
37 flat forehead 33 HP:0004425
38 small face 33 HP:0000274
39 palmoplantar cutis gyrata 33 HP:0007469
40 atrophic scars 33 HP:0001075
41 slender toe 33 HP:0011308

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Skeletal:
osteopenia
advanced bone age

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short clavicles

Growth Height:
short stature

Skeletal Pelvis:
coxa valga

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

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

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

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

Growth Other:
failure to thrive

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

Chest External Features:
narrow chest

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

Head And Neck Nose:
broad nasal bridge

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

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

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

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

42
Bone, Skin, Eye

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

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

# Title Authors Year
1
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. ( 2106134 )
1990

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

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

76
# Symbol AA change Variation ID SNP ID
1 B4GALT7 p.Ala186Asp VAR_010293 rs121917817
2 B4GALT7 p.Leu206Pro VAR_010294 rs121917818

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.557C> A (p.Ala186Asp) single nucleotide variant Pathogenic rs121917817 GRCh37 Chromosome 5, 177034446: 177034446
2 B4GALT7 NM_007255.2(B4GALT7): c.557C> A (p.Ala186Asp) single nucleotide variant Pathogenic rs121917817 GRCh38 Chromosome 5, 177607445: 177607445
3 B4GALT7 NM_007255.2(B4GALT7): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh37 Chromosome 5, 177034506: 177034506
4 B4GALT7 NM_007255.2(B4GALT7): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh38 Chromosome 5, 177607505: 177607505
5 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
6 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh38 Chromosome 5, 177608994: 177608994
7 B4GALT7 NM_007255.2(B4GALT7): c.687C> T (p.Asp229=) single nucleotide variant Conflicting interpretations of pathogenicity rs756942664 GRCh37 Chromosome 5, 177035587: 177035587
8 B4GALT7 NM_007255.2(B4GALT7): c.687C> T (p.Asp229=) single nucleotide variant Conflicting interpretations of pathogenicity rs756942664 GRCh38 Chromosome 5, 177608586: 177608586
9 B4GALT7 NM_007255.2(B4GALT7): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 177604250: 177604250
10 B4GALT7 NM_007255.2(B4GALT7): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 177031251: 177031251
11 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
12 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh37 Chromosome 5, 177034310: 177034310
13 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
14 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh37 Chromosome 5, 177031406: 177031406
15 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
16 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh37 Chromosome 5, 177035541: 177035541
17 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh37 Chromosome 5, 177027249: 177027249
18 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh38 Chromosome 5, 177600248: 177600248
19 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh37 Chromosome 5, 177031540: 177031540
20 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh38 Chromosome 5, 177604539: 177604539
21 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh37 Chromosome 5, 177031406: 177031406
22 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh38 Chromosome 5, 177604405: 177604405
23 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
24 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
25 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
26 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh38 Chromosome 5, 177608963: 177608963
27 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided GRCh38 Chromosome 5, 177604313: 177604313
28 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided GRCh37 Chromosome 5, 177031314: 177031314

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

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

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