EDSSPD2
MCID: EHL085
MIFTS: 24

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 57 75
Ehlers-Danlos Syndrome, Progeroid Type, 2 75 73
Edsspd2 57 75
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly; Edsp2, Formerly 57
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly 57
Syndrome, Ehlers-Danlos, Spondylodysplastic, Type 2 40
Edsp2, Formerly 57
Edsp2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, spondylodysplastic type, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

UniProtKB/Swiss-Prot : 75 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. 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 : 57 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

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 11.7

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 occasional (7.5%) HP:0000767
2 global developmental delay 32 occasional (7.5%) HP:0001263
3 prominent forehead 32 HP:0011220
4 cleft palate 32 occasional (7.5%) HP:0000175
5 epiphyseal dysplasia 32 HP:0002656
6 platyspondyly 32 HP:0000926
7 flat face 32 HP:0012368
8 talipes equinovarus 32 HP:0001762
9 hip dislocation 32 HP:0002827
10 proptosis 32 HP:0000520
11 decreased body weight 32 HP:0004325
12 blue sclerae 32 HP:0000592
13 hyperextensible skin 32 HP:0000974
14 sparse hair 32 HP:0008070
15 generalized hypotonia 32 HP:0001290
16 kyphoscoliosis 32 HP:0002751
17 carpal synostosis 32 occasional (7.5%) HP:0009702
18 flared metaphysis 32 HP:0003015
19 cutis laxa 32 HP:0000973
20 long upper lip 32 HP:0011341
21 advanced ossification of carpal bones 32 HP:0004233

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:

41
Skin, Bone, Eye

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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

75
# 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 22)
# 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 rs786200941 GRCh37 Chromosome 1, 1168246: 1168246
6 B3GALT6 NM_080605.3(B3GALT6): c.588delG (p.Arg197Alafs) deletion Pathogenic rs786200941 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.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh37 Chromosome 1, 1167680: 1167694
14 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh38 Chromosome 1, 1232300: 1232314
15 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh37 Chromosome 1, 1168104: 1168104
16 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 1232724: 1232724
17 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance rs777778007 GRCh37 Chromosome 1, 1168046: 1168046
18 B3GALT6 NM_080605.4(B3GALT6): c.388G> A (p.Glu130Lys) single nucleotide variant Uncertain significance rs777778007 GRCh38 Chromosome 1, 1232666: 1232666
19 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1167894: 1167894
20 B3GALT6 NM_080605.4(B3GALT6): c.236C> G (p.Thr79Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232514: 1232514
21 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 1168313: 1168313
22 B3GALT6 NM_080605.4(B3GALT6): c.655G> A (p.Val219Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 1232933: 1232933

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

Sources for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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