DBQD2
MCID: DSB005
MIFTS: 31

Desbuquois Dysplasia 2 (DBQD2)

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

Aliases & Classifications for Desbuquois Dysplasia 2

MalaCards integrated aliases for Desbuquois Dysplasia 2:

Name: Desbuquois Dysplasia 2 56 73 29 6 71
Baratela-Scott Syndrome 56 73
Dbqd2 56 73
Dysplasia, Desbuquois, Type 2 39
Syndrome, Baratela-Scott 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present


HPO:

31

Classifications:



Summaries for Desbuquois Dysplasia 2

UniProtKB/Swiss-Prot : 73 Desbuquois dysplasia 2: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations.

MalaCards based summary : Desbuquois Dysplasia 2, also known as baratela-scott syndrome, is related to desbuquois dysplasia 1 and scott syndrome. An important gene associated with Desbuquois Dysplasia 2 is XYLT1 (Xylosyltransferase 1). Affiliated tissues include bone, eye and skin, and related phenotypes are inguinal hernia and chronic otitis media

OMIM : 56 Desbuquois dysplasia, which belongs to the multiple dislocation group of disorders, is characterized by dislocations of large joints, severe pre- and postnatal growth retardation, joint laxity, and flat face with prominent eyes. Radiologic features include short long bones with an exaggerated trochanter that gives a 'monkey wrench' appearance to the proximal femur, and advanced carpal and tarsal ossification (summary by Bui et al., 2014). For a discussion of genetic heterogeneity of Desbuquois dysplasia, see DBQD1 (251450). (615777)

Related Diseases for Desbuquois Dysplasia 2

Diseases in the Desbuquois Dysplasia family:

Desbuquois Dysplasia 1 Desbuquois Dysplasia 2

Diseases related to Desbuquois Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 desbuquois dysplasia 1 29.7 XYLT1 LOC102723692
2 scott syndrome 10.4
3 autosomal recessive disease 10.4
4 desbuquois dysplasia 9.5 XYLT1 LOC102723692
5 pseudoxanthoma elasticum 9.2 XYLT1 LOC102723692

Graphical network of the top 20 diseases related to Desbuquois Dysplasia 2:



Diseases related to Desbuquois Dysplasia 2

Symptoms & Phenotypes for Desbuquois Dysplasia 2

Human phenotypes related to Desbuquois Dysplasia 2:

31 (show top 50) (show all 63)
# Description HPO Frequency HPO Source Accession
1 inguinal hernia 31 occasional (7.5%) HP:0000023
2 chronic otitis media 31 occasional (7.5%) HP:0000389
3 pectus carinatum 31 occasional (7.5%) HP:0000768
4 pes planus 31 occasional (7.5%) HP:0001763
5 broad thumb 31 occasional (7.5%) HP:0011304
6 cleft palate 31 occasional (7.5%) HP:0000175
7 low posterior hairline 31 occasional (7.5%) HP:0002162
8 pectus excavatum 31 occasional (7.5%) HP:0000767
9 dental crowding 31 occasional (7.5%) HP:0000678
10 conductive hearing impairment 31 occasional (7.5%) HP:0000405
11 hypodontia 31 occasional (7.5%) HP:0000668
12 narrow chest 31 occasional (7.5%) HP:0000774
13 sleep apnea 31 occasional (7.5%) HP:0010535
14 high pitched voice 31 occasional (7.5%) HP:0001620
15 coxa valga 31 occasional (7.5%) HP:0002673
16 blue sclerae 31 occasional (7.5%) HP:0000592
17 toe clinodactyly 31 occasional (7.5%) HP:0001863
18 truncal obesity 31 occasional (7.5%) HP:0001956
19 astigmatism 31 occasional (7.5%) HP:0000483
20 broad foot 31 occasional (7.5%) HP:0001769
21 single transverse palmar crease 31 occasional (7.5%) HP:0000954
22 generalized hypotonia 31 occasional (7.5%) HP:0001290
23 radial head subluxation 31 occasional (7.5%) HP:0003048
24 bifid uvula 31 very rare (1%) HP:0000193
25 cutaneous syndactyly 31 very rare (1%) HP:0012725
26 intellectual disability 31 HP:0001249
27 global developmental delay 31 HP:0001263
28 depressed nasal bridge 31 HP:0005280
29 short neck 31 HP:0000470
30 delayed speech and language development 31 HP:0000750
31 microcephaly 31 HP:0000252
32 short stature 31 HP:0004322
33 epiphyseal dysplasia 31 HP:0002656
34 flat face 31 HP:0012368
35 intrauterine growth retardation 31 HP:0001511
36 postnatal growth retardation 31 HP:0008897
37 epicanthus 31 HP:0000286
38 joint laxity 31 HP:0001388
39 brachydactyly 31 HP:0001156
40 long philtrum 31 HP:0000343
41 platyspondyly 31 HP:0000926
42 proptosis 31 HP:0000520
43 malar flattening 31 HP:0000272
44 genu varum 31 HP:0002970
45 round face 31 HP:0000311
46 midface retrusion 31 HP:0011800
47 cutaneous finger syndactyly 31 HP:0010554
48 synophrys 31 HP:0000664
49 short metacarpal 31 HP:0010049
50 short clavicles 31 HP:0000894

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck
supple neck

Head And Neck Head:
microcephaly
relative macrocephaly

Head And Neck Face:
flat face
long philtrum
round face

Skeletal:
joint laxity

Skeletal Spine:
platyspondyly
lumbar lordosis
vertebral endplate irregularities

Head And Neck Eyes:
synophrys
epicanthal folds
prominent eyes
blue sclerae (in some patients)

Neurologic Central Nervous System:
developmental delay
learning disability
speech delay
mental retardation, mild to moderate
hypotonia (rare)

Skeletal Hands:
short metacarpals
short phalanges
broad thumbs (in some patients)
advanced carpal bone age
cutaneous syndactyly (in some patients)
more
Growth Weight:
truncal obesity (in some patients)

Respiratory Lung:
respiratory distress (due to narrow thorax that resolves in first year of life, in some patients)

Skin Nails Hair Skin:
doughy or puffy skin (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
short clavicles
flared ribs

Growth Height:
short stature

Growth Other:
postnatal growth retardation
prenatal growth retardation

Head And Neck Teeth:
dental crowding
hypodontia
class iii malocclusion
supernumerary conical tooth

Skeletal Limbs:
genu varum
metaphyseal widening
short long bones
multiple dislocations of large joints
monkey-wrench appearance of the femoral neck
more
Skeletal Pelvis:
flat acetabular roof
coxa valga (in some patients)

Head And Neck Nose:
low nasal bridge

Head And Neck Mouth:
cleft palate (in some patients)
bifid uvula (in some patients)

Skeletal Feet:
pes planus (in some patients)
advanced tarsal bone age
broad feet (in some patients)
toe clinodactyly (in some patients)
toe deformities (rare)

Chest External Features:
narrow thorax (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
warm and engaging personality (in some patients)

Clinical features from OMIM:

615777

Drugs & Therapeutics for Desbuquois Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Desbuquois Dysplasia 2

Genetic Tests for Desbuquois Dysplasia 2

Genetic tests related to Desbuquois Dysplasia 2:

# Genetic test Affiliating Genes
1 Desbuquois Dysplasia 2 29 XYLT1

Anatomical Context for Desbuquois Dysplasia 2

MalaCards organs/tissues related to Desbuquois Dysplasia 2:

40
Bone, Eye, Skin

Publications for Desbuquois Dysplasia 2

Articles related to Desbuquois Dysplasia 2:

# Title Authors PMID Year
1
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. 56 6
30554721 2019
2
XYLT1 mutations in Desbuquois dysplasia type 2. 56 6
24581741 2014
3
The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. 6 56
23982343 2014
4
A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay. 56 6
22711505 2012
5
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. 56
21037275 2011
6
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. 61
27881841 2017
7
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. 61
27030147 2016

Variations for Desbuquois Dysplasia 2

ClinVar genetic disease variations for Desbuquois Dysplasia 2:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 XYLT1 NM_022166.4(XYLT1):c.319G>T (p.Gly107Ter)SNV Pathogenic 619181 rs1567215600 16:17564335-17564335 16:17470478-17470478
2 XYLT1 NW_019805500.1:g.472169CCG[(100-833)]NT expansion Pathogenic 619182 16:472169-472169
3 XYLT1 NM_022166.4(XYLT1):c.281_306del (p.Gln94fs)deletion Pathogenic 619183 rs1567215615 16:17564348-17564373 16:17470491-17470516
4 XYLT1 NM_022166.4(XYLT1):c.1290-1G>ASNV Pathogenic 619184 rs1567300982 16:17252767-17252767 16:17158910-17158910
5 XYLT1 NM_022166.4(XYLT1):c.1441C>T (p.Arg481Trp)SNV Pathogenic 127234 rs587777366 16:17235156-17235156 16:17141299-17141299
6 XYLT1 NM_022166.4(XYLT1):c.1792C>T (p.Arg598Cys)SNV Pathogenic 127235 rs587777367 16:17228565-17228565 16:17134708-17134708
7 XYLT1 NM_022166.4(XYLT1):c.439C>T (p.Arg147Ter)SNV Pathogenic 127236 rs587777368 16:17353319-17353319 16:17259462-17259462
8 XYLT1 NM_022166.4(XYLT1):c.276dup (p.Pro93fs)duplication Pathogenic 127237 rs587777369 16:17564377-17564378 16:17470520-17470521
9 XYLT1 NM_022166.4(XYLT1):c.1730_1733dup (p.Asp578delinsGluTer)duplication Pathogenic 426319 rs1085307563 16:17232242-17232243 16:17138385-17138386
10 XYLT1 NM_022166.4(XYLT1):c.1290-2A>CSNV Pathogenic 127239 rs587777370 16:17252768-17252768 16:17158911-17158911
11 XYLT1 NM_022166.4(XYLT1):c.1756C>T (p.Arg586Cys)SNV Uncertain significance 573227 rs139179946 16:17232220-17232220 16:17138363-17138363
12 XYLT1 NM_022166.4(XYLT1):c.1588-3C>TSNV Likely benign 127238 rs201818754 16:17232391-17232391 16:17138534-17138534

UniProtKB/Swiss-Prot genetic disease variations for Desbuquois Dysplasia 2:

73
# Symbol AA change Variation ID SNP ID
1 XYLT1 p.Arg481Trp VAR_071273 rs587777366
2 XYLT1 p.Arg598Cys VAR_071274 rs587777367

Expression for Desbuquois Dysplasia 2

Search GEO for disease gene expression data for Desbuquois Dysplasia 2.

Pathways for Desbuquois Dysplasia 2

GO Terms for Desbuquois Dysplasia 2

Sources for Desbuquois Dysplasia 2

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