EDSSPD2
MCID: EHL085
MIFTS: 26

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 (EDSSPD2)

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

Aliases & Classifications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

Name: Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 58 76
Ehlers-Danlos Syndrome, Progeroid Type, 2 76 74
Edsspd2 58 76
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly; Edsp2, Formerly 58
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly 58
Syndrome, Ehlers-Danlos, Spondylodysplastic, Type 2 41
Edsp2, Formerly 58
Edsp2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ehlers-danlos syndrome, spondylodysplastic type, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

UniProtKB/Swiss-Prot : 76 Ehlers-Danlos syndrome, spondylodysplastic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.

MalaCards based summary : Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2, also known as ehlers-danlos syndrome, progeroid type, 2, is related to ehlers-danlos syndrome progeroid type and b3galt6-related spondylodysplastic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include skin, bone and eye, and related phenotypes are pectus excavatum and global developmental delay

OMIM : 58 The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. (615349)

Related Diseases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome progeroid type 11.8
2 b3galt6-related spondylodysplastic ehlers-danlos syndrome 11.5

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 occasional (7.5%) HP:0000767
2 global developmental delay 33 occasional (7.5%) HP:0001263
3 cleft palate 33 occasional (7.5%) HP:0000175
4 carpal synostosis 33 occasional (7.5%) HP:0009702
5 prominent forehead 33 HP:0011220
6 epiphyseal dysplasia 33 HP:0002656
7 platyspondyly 33 HP:0000926
8 flat face 33 HP:0012368
9 talipes equinovarus 33 HP:0001762
10 kyphoscoliosis 33 HP:0002751
11 hip dislocation 33 HP:0002827
12 proptosis 33 HP:0000520
13 decreased body weight 33 HP:0004325
14 blue sclerae 33 HP:0000592
15 hyperextensible skin 33 HP:0000974
16 sparse hair 33 HP:0008070
17 generalized hypotonia 33 HP:0001290
18 flared metaphysis 33 HP:0003015
19 cutis laxa 33 HP:0000973
20 long upper lip 33 HP:0011341
21 advanced ossification of carpal bones 33 HP:0004233

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
prominent forehead
flat face

Skeletal Pelvis:
hip dislocation
prominent lesser trochanter
short ilia

Skin Nails Hair Skin:
hyperextensible skin
cutis laxa
doughy skin

Head And Neck Mouth:
long upper lip
cleft palate (rare)

Skeletal Limbs:
metaphyseal flaring
restricted elbow movement
elbow malalignment
epiphyseal dysplasia of femoral head

Skeletal Feet:
clubfeet

Skeletal Hands:
advanced carpal ossification
metacarpal shortening
hand contracture (rare)
carpal fusion (rare)
spatulate finger
more
Skeletal Spine:
platyspondyly
kyphoscoliosis
anterior beak of vertebral body

Head And Neck Eyes:
proptosis
blue sclerae
prominent eyes

Skin Nails Hair Hair:
sparse hair

Neurologic Central Nervous System:
hypotonia
developmental delay (rare)

Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (rare)

Skeletal:
large joint laxity

Clinical features from OMIM:

615349

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Anatomical Context for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

42
Skin, Bone, Eye

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Articles related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

# Title Authors Year
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. ( 29931299 )
2018
2
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. ( 23664117 )
2013

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

76
# Symbol AA change Variation ID SNP ID
1 B3GALT6 p.Arg6Trp VAR_070132 rs397514722
2 B3GALT6 p.Ser309Thr VAR_070141 rs397514721

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 B3GALT6 NM_080605.3(B3GALT6): c.353delA (p.Asp118Alafs) deletion Pathogenic rs750088530 GRCh37 Chromosome 1, 1168011: 1168011
2 B3GALT6 NM_080605.3(B3GALT6): c.353delA (p.Asp118Alafs) deletion Pathogenic rs750088530 GRCh38 Chromosome 1, 1232631: 1232631
3 B3GALT6 NM_080605.3(B3GALT6): c.925T> A (p.Ser309Thr) single nucleotide variant Pathogenic rs397514721 GRCh37 Chromosome 1, 1168583: 1168583
4 B3GALT6 NM_080605.3(B3GALT6): c.925T> A (p.Ser309Thr) single nucleotide variant Pathogenic rs397514721 GRCh38 Chromosome 1, 1233203: 1233203
5 B3GALT6 NM_080605.3(B3GALT6): c.588delG (p.Arg197Alafs) deletion Pathogenic rs533071750 GRCh37 Chromosome 1, 1168246: 1168246
6 B3GALT6 NM_080605.3(B3GALT6): c.588delG (p.Arg197Alafs) deletion Pathogenic rs533071750 GRCh38 Chromosome 1, 1232866: 1232866
7 B3GALT6 NM_080605.3(B3GALT6): c.16C> T (p.Arg6Trp) single nucleotide variant Pathogenic rs397514722 GRCh37 Chromosome 1, 1167674: 1167674
8 B3GALT6 NM_080605.3(B3GALT6): c.16C> T (p.Arg6Trp) single nucleotide variant Pathogenic rs397514722 GRCh38 Chromosome 1, 1232294: 1232294
9 B3GALT6 NM_080605.3(B3GALT6): c.415_423delATGCTGGCC (p.Met139_Ala141del) deletion Pathogenic rs786200942 GRCh37 Chromosome 1, 1168073: 1168081
10 B3GALT6 NM_080605.3(B3GALT6): c.415_423delATGCTGGCC (p.Met139_Ala141del) deletion Pathogenic rs786200942 GRCh38 Chromosome 1, 1232693: 1232701
11 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh37 Chromosome 1, 1167796: 1167796
12 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh38 Chromosome 1, 1232416: 1232416
13 B3GALT6 NM_080605.3(B3GALT6): c.17G> A (p.Arg6Gln) single nucleotide variant Uncertain significance rs1131691530 GRCh37 Chromosome 1, 1167675: 1167675
14 B3GALT6 NM_080605.3(B3GALT6): c.17G> A (p.Arg6Gln) single nucleotide variant Uncertain significance rs1131691530 GRCh38 Chromosome 1, 1232295: 1232295
15 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign rs1553151151 GRCh37 Chromosome 1, 1167680: 1167694
16 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign rs1553151151 GRCh38 Chromosome 1, 1232300: 1232314
17 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance rs1553151257 GRCh38 Chromosome 1, 1232724: 1232724
18 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance rs1553151257 GRCh37 Chromosome 1, 1168104: 1168104
19 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1168046: 1168046
20 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232666: 1232666
21 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1167894: 1167894
22 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232514: 1232514
23 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1168313: 1168313
24 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232933: 1232933
25 B3GALT6 NM_080605.4(B3GALT6): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 1232823: 1232823
26 B3GALT6 NM_080605.4(B3GALT6): c.545A> G (p.Tyr182Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 1168203: 1168203

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2.

Pathways for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

GO Terms for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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