MCID: DSB005
MIFTS: 25

Desbuquois Dysplasia 2

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

Aliases & Classifications for Desbuquois Dysplasia 2

MalaCards integrated aliases for Desbuquois Dysplasia 2:

Name: Desbuquois Dysplasia 2 57 75 29 6 73
Dbqd2 57 75
Dysplasia, Desbuquois, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
desbuquois dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Desbuquois Dysplasia 2

UniProtKB/Swiss-Prot : 75 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 dbqd2, is related to desbuquois dysplasia 1. An important gene associated with Desbuquois Dysplasia 2 is XYLT1 (Xylosyltransferase 1). Affiliated tissues include bone, eye and skin, and related phenotypes are cleft palate and round face

OMIM : 57 Desbuquois dysplasia (DBQD), 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 9.3 LOC107987234 XYLT1

Symptoms & Phenotypes for Desbuquois Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Limbs:
epiphyseal dysplasia
metaphyseal widening
short long bones
coxa valga (in some patients)
multiple dislocations of large joints
more
Chest Ribs Sternum Clavicles And Scapulae:
short clavicles
pectus carinatum (in some patients)
pectus excavatum (in some patients)

Head And Neck Nose:
low nasal bridge

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

Neurologic Central Nervous System:
mental retardation, mild to moderate
hypotonia (in some patients)

Growth Weight:
truncal obesity (in some patients)

Skin Nails Hair Skin:
simian crease (in some patients)
doughy or puffy skin (in some patients)

Chest External Features:
narrow thorax (in some patients)

Head And Neck Face:
long philtrum
flat face
round face

Skeletal:
joint laxity

Head And Neck Head:
relative macrocephaly

Skeletal Hands:
short metacarpals
short phalanges
broad thumbs (in some patients)
advanced carpal bone age
simian crease (in some patients)
more
Head And Neck Eyes:
prominent eyes
blue sclerae (in some patients)

Growth Other:
pre- and postnatal growth retardation

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

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


Clinical features from OMIM:

615777

Human phenotypes related to Desbuquois Dysplasia 2:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 round face 32 HP:0000311
3 long philtrum 32 HP:0000343
4 proptosis 32 HP:0000520
5 blue sclerae 32 occasional (7.5%) HP:0000592
6 pectus excavatum 32 occasional (7.5%) HP:0000767
7 pectus carinatum 32 occasional (7.5%) HP:0000768
8 narrow chest 32 occasional (7.5%) HP:0000774
9 short clavicles 32 HP:0000894
10 single transverse palmar crease 32 occasional (7.5%) HP:0000954
11 intellectual disability 32 HP:0001249
12 generalized hypotonia 32 occasional (7.5%) HP:0001290
13 joint laxity 32 HP:0001388
14 pes planus 32 occasional (7.5%) HP:0001763
15 broad foot 32 occasional (7.5%) HP:0001769
16 toe clinodactyly 32 occasional (7.5%) HP:0001863
17 truncal obesity 32 occasional (7.5%) HP:0001956
18 epiphyseal dysplasia 32 HP:0002656
19 coxa valga 32 occasional (7.5%) HP:0002673
20 metaphyseal widening 32 HP:0003016
21 short long bone 32 HP:0003026
22 advanced ossification of carpal bones 32 HP:0004233
23 short stature 32 HP:0004322
24 relative macrocephaly 32 HP:0004482
25 depressed nasal bridge 32 HP:0005280
26 short phalanx of finger 32 HP:0009803
27 short metacarpal 32 HP:0010049
28 broad thumb 32 occasional (7.5%) HP:0011304
29 flat face 32 HP:0012368

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:

41
Bone, Eye, Skin

Publications for Desbuquois Dysplasia 2

Variations for Desbuquois Dysplasia 2

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

75
# Symbol AA change Variation ID SNP ID
1 XYLT1 p.Arg481Trp VAR_071273 rs587777366
2 XYLT1 p.Arg598Cys VAR_071274 rs587777367

ClinVar genetic disease variations for Desbuquois Dysplasia 2:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 XYLT1 NM_022166.3(XYLT1): c.1441C> T (p.Arg481Trp) single nucleotide variant Pathogenic rs587777366 GRCh38 Chromosome 16, 17141299: 17141299
2 XYLT1 NM_022166.3(XYLT1): c.1441C> T (p.Arg481Trp) single nucleotide variant Pathogenic rs587777366 GRCh37 Chromosome 16, 17235156: 17235156
3 XYLT1 NM_022166.3(XYLT1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic rs587777367 GRCh38 Chromosome 16, 17134708: 17134708
4 XYLT1 NM_022166.3(XYLT1): c.1792C> T (p.Arg598Cys) single nucleotide variant Pathogenic rs587777367 GRCh37 Chromosome 16, 17228565: 17228565
5 XYLT1 NM_022166.3(XYLT1): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs587777368 GRCh38 Chromosome 16, 17259462: 17259462
6 XYLT1 NM_022166.3(XYLT1): c.439C> T (p.Arg147Ter) single nucleotide variant Pathogenic rs587777368 GRCh37 Chromosome 16, 17353319: 17353319
7 XYLT1 NM_022166.3(XYLT1): c.276dupG (p.Pro93Alafs) duplication Pathogenic rs587777369 GRCh38 Chromosome 16, 17470521: 17470521
8 XYLT1 NM_022166.3(XYLT1): c.276dupG (p.Pro93Alafs) duplication Pathogenic rs587777369 GRCh37 Chromosome 16, 17564378: 17564378
9 XYLT1 NM_022166.3(XYLT1): c.1588-3C> T single nucleotide variant Pathogenic rs201818754 GRCh37 Chromosome 16, 17232391: 17232391
10 XYLT1 NM_022166.3(XYLT1): c.1588-3C> T single nucleotide variant Pathogenic rs201818754 GRCh38 Chromosome 16, 17138534: 17138534
11 XYLT1 NM_022166.3(XYLT1): c.1290-2A> C single nucleotide variant Pathogenic rs587777370 GRCh38 Chromosome 16, 17158911: 17158911
12 XYLT1 NM_022166.3(XYLT1): c.1290-2A> C single nucleotide variant Pathogenic rs587777370 GRCh37 Chromosome 16, 17252768: 17252768

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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