EDSSPD1
MCID: EHL076
MIFTS: 30

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 57 75
Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies 57 75
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 57 75
Galactosyltransferase I Deficiency 57 75
Xgpt Deficiency 57 75
Edsspd1 57 75
Edssla 57 75
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
Syndrome, Ehlers-Danlos, Spondylodysplastic, Type 1 40
Proteodermatan Sulfate, Defective Biosynthesis of 57
Defective Biosynthesis of Proteodermatan Sulfate 75
Ehlers-Danlos Syndrome, Progeroid Type, 1 75
Ehlers-Danlos Syndrome, Progeroid Form 73
Pds, Defective Biosynthesis of 57
Dermatan Sulfate Proteoglycan 57
Defective Biosynthesis of Pds 75
Edsp1, Formerly 57
Edsp1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, spondylodysplastic type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

UniProtKB/Swiss-Prot : 75 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 macrocephaly and hypertelorism

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)

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

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 11.5
3 disorganization, mouse, homolog of 10.3
4 alzheimer disease 10.1
5 burn scar 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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

41
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:

75
# 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 25)
# 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: c.122T> C single nucleotide variant Pathogenic
8 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
9 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh37 Chromosome 5, 177034310: 177034310
10 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
11 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh37 Chromosome 5, 177031406: 177031406
12 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
13 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh37 Chromosome 5, 177035541: 177035541
14 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh37 Chromosome 5, 177027249: 177027249
15 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh38 Chromosome 5, 177600248: 177600248
16 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh37 Chromosome 5, 177031540: 177031540
17 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh38 Chromosome 5, 177604539: 177604539
18 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh37 Chromosome 5, 177031406: 177031406
19 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh38 Chromosome 5, 177604405: 177604405
20 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
21 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
22 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
23 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh38 Chromosome 5, 177608963: 177608963
24 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided rs373059256 GRCh38 Chromosome 5, 177604313: 177604313
25 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided rs373059256 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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