MCID: DPH019
MIFTS: 38

Diaphanospondylodysostosis

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

Aliases & Classifications for Diaphanospondylodysostosis

MalaCards integrated aliases for Diaphanospondylodysostosis:

Name: Diaphanospondylodysostosis 57 59 75 37 29 13 6 40 73
Vertebral Ossification, Defect in, with Nephrogenic Rests 57
Defect in Vertebral Ossification with Nephrogenic Rests 75
Dsd 75

Characteristics:

Orphanet epidemiological data:

59
diaphanospondylodysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients die in neonatal period secondary to respiratory insufficiency


HPO:

32
diaphanospondylodysostosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Diaphanospondylodysostosis

OMIM : 57 Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010). (608022)

MalaCards based summary : Diaphanospondylodysostosis, also known as vertebral ossification, defect in, with nephrogenic rests, is related to 46,xx sex reversal 1 and 46, xy disorders of sexual development. An important gene associated with Diaphanospondylodysostosis is BMPER (BMP Binding Endothelial Regulator). Affiliated tissues include kidney, liver and bone, and related phenotypes are short neck and cleft palate

UniProtKB/Swiss-Prot : 75 Diaphanospondylodysostosis: A rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics of the phenotype include a small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, a depressed nasal bridge with a short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.

Related Diseases for Diaphanospondylodysostosis

Graphical network of the top 20 diseases related to Diaphanospondylodysostosis:



Diseases related to Diaphanospondylodysostosis

Symptoms & Phenotypes for Diaphanospondylodysostosis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
epicanthal folds

Head And Neck Neck:
short neck
webbed neck

Head And Neck Nose:
depressed nasal bridge
short nose
flat nose

Head And Neck Face:
micrognathia

Head And Neck Head:
large fontanelles

Respiratory Airways:
tracheomalacia

Neurologic Central Nervous System:
polymicrogyria
developmental delay
hypotonia
lumbosacral meningocele

Abdomen External Features:
protuberant abdomen

Skeletal Hands:
hypoplastic fingernails

Skeletal Feet:
clubfeet
hammer toe

Respiratory Lung:
hypoplastic lungs

Prenatal Manifestations:
nuchal translucency

Abdomen Liver:
trilobed liver

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Mouth:
cleft palate

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
ribbon-like ribs
absent in utero rib ossification
posterior gaps in ribs

Chest External Features:
thoracic hypoplasia
bell-shaped thorax
short trunk

Genitourinary Kidneys:
cystic renal dysplasia
enlarged kidneys
nephroblastomatosis
intralobular nephrogenic rests

Skin Nails Hair Nails:
hypoplastic fingernails

Skeletal Pelvis:
narrow pelvis
downward tilt of pubic rami

Skeletal Spine:
vertebral segmentation defects
zipper-like pedicles
delayed ossification of pedicles
unossified sacrum
unossified vertebral bodies (below level of t12)
more
Respiratory:
respiratory distress/insufficiency


Clinical features from OMIM:

608022

Human phenotypes related to Diaphanospondylodysostosis:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 respiratory distress 59 32 hallmark (90%) Very frequent (99-80%) HP:0002098
4 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
5 enlarged thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0100625
6 multiple renal cysts 59 32 hallmark (90%) Very frequent (99-80%) HP:0005562
7 missing ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000921
8 narrow pelvis bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003275
9 abnormal vertebral segmentation and fusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005640
10 myelomeningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002475
11 absent or minimally ossified vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0004599
12 hypertelorism 32 HP:0000316
13 low-set ears 32 HP:0000369
14 respiratory insufficiency 32 HP:0002093
15 inguinal hernia 32 HP:0000023
16 global developmental delay 32 HP:0001263
17 depressed nasal bridge 32 HP:0005280
18 short nose 32 HP:0003196
19 micrognathia 32 HP:0000347
20 disproportionate short-trunk short stature 32 HP:0003521
21 epicanthus 32 HP:0000286
22 intrauterine growth retardation 32 HP:0001511
23 webbed neck 32 HP:0000465
24 depressed nasal ridge 32 HP:0000457
25 talipes equinovarus 32 HP:0001762
26 vertebral segmentation defect 32 HP:0003422
27 increased nuchal translucency 32 HP:0010880
28 large fontanelles 32 HP:0000239
29 oligohydramnios 32 HP:0001562
30 tracheomalacia 32 HP:0002779
31 polymicrogyria 32 HP:0002126
32 hypoplastic fingernail 32 HP:0001804
33 enlarged kidney 32 HP:0000105
34 hammertoe 32 HP:0001765
35 thoracic hypoplasia 32 HP:0005257
36 pulmonary hypoplasia 32 HP:0002089
37 generalized hypotonia 32 HP:0001290
38 bell-shaped thorax 32 HP:0001591
39 protuberant abdomen 32 HP:0001538
40 cystic renal dysplasia 32 HP:0000800
41 abnormal liver lobulation 32 HP:0100752
42 nephroblastomatosis 32 HP:0008643
43 lumbosacral meningocele 32 HP:0200133
44 absent in utero rib ossification 32 HP:0006615
45 unossified sacrum 32 HP:0030290
46 absent in utero ossification of vertebral bodies 32 HP:0008435
47 nephrogenic rest 32 HP:0100880

MGI Mouse Phenotypes related to Diaphanospondylodysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 BMPER MEOX1 PAX1 PKD1L1
2 craniofacial MP:0005382 9.43 BMPER MEOX1 PAX1
3 limbs/digits/tail MP:0005371 9.13 BMPER MEOX1 PAX1
4 skeleton MP:0005390 8.92 BMPER ELMO1 MEOX1 PAX1

Drugs & Therapeutics for Diaphanospondylodysostosis

Search Clinical Trials , NIH Clinical Center for Diaphanospondylodysostosis

Genetic Tests for Diaphanospondylodysostosis

Genetic tests related to Diaphanospondylodysostosis:

# Genetic test Affiliating Genes
1 Diaphanospondylodysostosis 29 BMPER

Anatomical Context for Diaphanospondylodysostosis

MalaCards organs/tissues related to Diaphanospondylodysostosis:

41
Kidney, Liver, Bone, Lung

Publications for Diaphanospondylodysostosis

Articles related to Diaphanospondylodysostosis:

# Title Authors Year
1
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report. ( 29445489 )
2018
2
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ( 28815954 )
2017
3
BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. ( 26467725 )
2015
4
Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis. ( 22469945 )
2012
5
Long-term survival with diaphanospondylodysostosis (DSD): survival to 5 years and further phenotypic characteristics. ( 22581610 )
2012
6
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD). ( 21990102 )
2011
7
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. ( 20869035 )
2010
8
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. ( 17764081 )
2007
9
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis. ( 15988748 )
2005

Variations for Diaphanospondylodysostosis

UniProtKB/Swiss-Prot genetic disease variations for Diaphanospondylodysostosis:

75
# Symbol AA change Variation ID SNP ID
1 BMPER p.Pro370Leu VAR_065823 rs387906993

ClinVar genetic disease variations for Diaphanospondylodysostosis:

6
(show top 50) (show all 150)
# Gene Variation Type Significance SNP ID Assembly Location
1 BMPER NM_133468.4(BMPER): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs387906992 GRCh37 Chromosome 7, 34094913: 34094913
2 BMPER NM_133468.4(BMPER): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs387906992 GRCh38 Chromosome 7, 34055301: 34055301
3 BMPER BMPER, 10-BP DEL/14-BP INS, NT26 indel Pathogenic
4 BMPER BMPER, IVS11DS, G-A, +5 single nucleotide variant Pathogenic
5 BMPER NM_133468.4(BMPER): c.1109C> T (p.Pro370Leu) single nucleotide variant Pathogenic rs387906993 GRCh37 Chromosome 7, 34118499: 34118499
6 BMPER NM_133468.4(BMPER): c.1109C> T (p.Pro370Leu) single nucleotide variant Pathogenic rs387906993 GRCh38 Chromosome 7, 34078887: 34078887
7 BMPER NM_133468.4(BMPER): c.1638T> A (p.Cys546Ter) single nucleotide variant Pathogenic rs387906994 GRCh37 Chromosome 7, 34125597: 34125597
8 BMPER NM_133468.4(BMPER): c.1638T> A (p.Cys546Ter) single nucleotide variant Pathogenic rs387906994 GRCh38 Chromosome 7, 34085985: 34085985
9 BMPER NM_133468.4(BMPER): c.-362C> A single nucleotide variant Uncertain significance rs144748548 GRCh37 Chromosome 7, 33944535: 33944535
10 BMPER NM_133468.4(BMPER): c.-362C> A single nucleotide variant Uncertain significance rs144748548 GRCh38 Chromosome 7, 33904923: 33904923
11 BMPER NM_133468.4(BMPER): c.-230G> A single nucleotide variant Likely benign rs189473686 GRCh37 Chromosome 7, 33944667: 33944667
12 BMPER NM_133468.4(BMPER): c.-230G> A single nucleotide variant Likely benign rs189473686 GRCh38 Chromosome 7, 33905055: 33905055
13 BMPER NM_133468.4(BMPER): c.-141+9T> A single nucleotide variant Uncertain significance rs886062293 GRCh38 Chromosome 7, 33905153: 33905153
14 BMPER NM_133468.4(BMPER): c.-141+9T> A single nucleotide variant Uncertain significance rs886062293 GRCh37 Chromosome 7, 33944765: 33944765
15 BMPER NM_133468.4(BMPER): c.133+9G> C single nucleotide variant Likely benign rs75250304 GRCh37 Chromosome 7, 33945367: 33945367
16 BMPER NM_133468.4(BMPER): c.133+9G> C single nucleotide variant Likely benign rs75250304 GRCh38 Chromosome 7, 33905755: 33905755
17 BMPER NM_133468.4(BMPER): c.254C> T (p.Pro85Leu) single nucleotide variant Uncertain significance rs142205105 GRCh37 Chromosome 7, 33976935: 33976935
18 BMPER NM_133468.4(BMPER): c.254C> T (p.Pro85Leu) single nucleotide variant Uncertain significance rs142205105 GRCh38 Chromosome 7, 33937323: 33937323
19 BMPER NM_133468.4(BMPER): c.372G> A (p.Pro124=) single nucleotide variant Uncertain significance rs750265350 GRCh37 Chromosome 7, 34006143: 34006143
20 BMPER NM_133468.4(BMPER): c.372G> A (p.Pro124=) single nucleotide variant Uncertain significance rs750265350 GRCh38 Chromosome 7, 33966531: 33966531
21 BMPER NM_133468.4(BMPER): c.406G> A (p.Gly136Ser) single nucleotide variant Uncertain significance rs886062296 GRCh37 Chromosome 7, 34009944: 34009944
22 BMPER NM_133468.4(BMPER): c.406G> A (p.Gly136Ser) single nucleotide variant Uncertain significance rs886062296 GRCh38 Chromosome 7, 33970332: 33970332
23 BMPER NM_133468.4(BMPER): c.408C> T (p.Gly136=) single nucleotide variant Benign rs10265207 GRCh37 Chromosome 7, 34009946: 34009946
24 BMPER NM_133468.4(BMPER): c.408C> T (p.Gly136=) single nucleotide variant Benign rs10265207 GRCh38 Chromosome 7, 33970334: 33970334
25 BMPER NM_133468.4(BMPER): c.774T> G (p.Ala258=) single nucleotide variant Uncertain significance rs117988035 GRCh37 Chromosome 7, 34091570: 34091570
26 BMPER NM_133468.4(BMPER): c.774T> G (p.Ala258=) single nucleotide variant Uncertain significance rs117988035 GRCh38 Chromosome 7, 34051958: 34051958
27 BMPER NM_133468.4(BMPER): c.857G> T (p.Cys286Phe) single nucleotide variant Uncertain significance rs765544595 GRCh37 Chromosome 7, 34094845: 34094845
28 BMPER NM_133468.4(BMPER): c.857G> T (p.Cys286Phe) single nucleotide variant Uncertain significance rs765544595 GRCh38 Chromosome 7, 34055233: 34055233
29 BMPER NM_133468.4(BMPER): c.1461G> T (p.Pro487=) single nucleotide variant Benign rs77064045 GRCh37 Chromosome 7, 34125420: 34125420
30 BMPER NM_133468.4(BMPER): c.1461G> T (p.Pro487=) single nucleotide variant Benign rs77064045 GRCh38 Chromosome 7, 34085808: 34085808
31 BMPER NM_133468.4(BMPER): c.1797C> T (p.Cys599=) single nucleotide variant Uncertain significance rs74674953 GRCh37 Chromosome 7, 34182893: 34182893
32 BMPER NM_133468.4(BMPER): c.1797C> T (p.Cys599=) single nucleotide variant Uncertain significance rs74674953 GRCh38 Chromosome 7, 34143281: 34143281
33 BMPER NM_133468.4(BMPER): c.1818C> A (p.Thr606=) single nucleotide variant Uncertain significance rs138797097 GRCh37 Chromosome 7, 34182914: 34182914
34 BMPER NM_133468.4(BMPER): c.1818C> A (p.Thr606=) single nucleotide variant Uncertain significance rs138797097 GRCh38 Chromosome 7, 34143302: 34143302
35 BMPER NM_133468.4(BMPER): c.*278T> C single nucleotide variant Likely benign rs116981158 GRCh38 Chromosome 7, 34153551: 34153551
36 BMPER NM_133468.4(BMPER): c.*278T> C single nucleotide variant Likely benign rs116981158 GRCh37 Chromosome 7, 34193163: 34193163
37 BMPER NM_133468.4(BMPER): c.*677C> T single nucleotide variant Uncertain significance rs780769567 GRCh37 Chromosome 7, 34193562: 34193562
38 BMPER NM_133468.4(BMPER): c.*677C> T single nucleotide variant Uncertain significance rs780769567 GRCh38 Chromosome 7, 34153950: 34153950
39 BMPER NM_133468.4(BMPER): c.*678G> A single nucleotide variant Uncertain significance rs77835415 GRCh37 Chromosome 7, 34193563: 34193563
40 BMPER NM_133468.4(BMPER): c.*678G> A single nucleotide variant Uncertain significance rs77835415 GRCh38 Chromosome 7, 34153951: 34153951
41 BMPER NM_133468.4(BMPER): c.*767C> T single nucleotide variant Uncertain significance rs886062299 GRCh37 Chromosome 7, 34193652: 34193652
42 BMPER NM_133468.4(BMPER): c.*767C> T single nucleotide variant Uncertain significance rs886062299 GRCh38 Chromosome 7, 34154040: 34154040
43 BMPER NM_133468.4(BMPER): c.*1071A> G single nucleotide variant Uncertain significance rs886062300 GRCh37 Chromosome 7, 34193956: 34193956
44 BMPER NM_133468.4(BMPER): c.*1071A> G single nucleotide variant Uncertain significance rs886062300 GRCh38 Chromosome 7, 34154344: 34154344
45 BMPER NM_133468.4(BMPER): c.*1262C> T single nucleotide variant Benign rs60064022 GRCh37 Chromosome 7, 34194147: 34194147
46 BMPER NM_133468.4(BMPER): c.*1262C> T single nucleotide variant Benign rs60064022 GRCh38 Chromosome 7, 34154535: 34154535
47 BMPER NM_133468.4(BMPER): c.*1667G> C single nucleotide variant Uncertain significance rs886062304 GRCh37 Chromosome 7, 34194552: 34194552
48 BMPER NM_133468.4(BMPER): c.*1667G> C single nucleotide variant Uncertain significance rs886062304 GRCh38 Chromosome 7, 34154940: 34154940
49 BMPER NM_133468.4(BMPER): c.*1703C> T single nucleotide variant Likely benign rs73097003 GRCh37 Chromosome 7, 34194588: 34194588
50 BMPER NM_133468.4(BMPER): c.*1703C> T single nucleotide variant Likely benign rs73097003 GRCh38 Chromosome 7, 34154976: 34154976

Expression for Diaphanospondylodysostosis

Search GEO for disease gene expression data for Diaphanospondylodysostosis.

Pathways for Diaphanospondylodysostosis

GO Terms for Diaphanospondylodysostosis

Biological processes related to Diaphanospondylodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sclerotome development GO:0061056 8.62 MEOX1 PAX1

Sources for Diaphanospondylodysostosis

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74 UMLS via Orphanet
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