OCLSBG
MCID: OST153
MIFTS: 25

Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type (OCLSBG)

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

Aliases & Classifications for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

MalaCards integrated aliases for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

Name: Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 57 72 29 6
Complex Lethal Osteochondrodysplasia 58 36
Oclsbg 57 72
Complex Lethal Osteochondrodysplasia, Symoens-Barnes-Gistelinck Type 58

Characteristics:

Orphanet epidemiological data:

58
complex lethal osteochondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal,stillbirth;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
six affected individuals, including 5 fetuses from interrupted pregnancies and 1 term birth have been reported (last curated april 2016)


HPO:

31
osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

KEGG : 36 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development. First, it affects intracellular protein trafficking and organization of cellular organelles. Second, TAPT1 could play a role in ciliary assembly and signaling, and influence osteoblast and/or chondrocyte differentiation.

MalaCards based summary : Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type, also known as complex lethal osteochondrodysplasia, is related to odontochondrodysplasia and skeletal dysplasias. An important gene associated with Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type is TAPT1 (Transmembrane Anterior Posterior Transformation 1). Affiliated tissues include cerebellum, and related phenotypes are short neck and osteopenia

OMIM® : 57 Complex lethal osteochondrodysplasia of the Symoens-Barnes-Gistelinck type is characterized by severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly (Symoens et al., 2015). (616897) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type: An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys.

Related Diseases for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Diseases related to Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 odontochondrodysplasia 10.0
2 skeletal dysplasias 10.0

Symptoms & Phenotypes for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Human phenotypes related to Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 short neck 31 HP:0000470
2 osteopenia 31 HP:0000938
3 hypertelorism 31 HP:0000316
4 wide nasal bridge 31 HP:0000431
5 short nose 31 HP:0003196
6 microcephaly 31 HP:0000252
7 anteverted nares 31 HP:0000463
8 flexion contracture 31 HP:0001371
9 brachycephaly 31 HP:0000248
10 cardiomegaly 31 HP:0001640
11 prominent forehead 31 HP:0011220
12 cleft palate 31 HP:0000175
13 ascites 31 HP:0001541
14 hydrops fetalis 31 HP:0001789
15 flat face 31 HP:0012368
16 intrauterine growth retardation 31 HP:0001511
17 micrognathia 31 HP:0000347
18 low-set ears 31 HP:0000369
19 webbed neck 31 HP:0000465
20 hypertrophic cardiomyopathy 31 HP:0001639
21 micropenis 31 HP:0000054
22 polyhydramnios 31 HP:0001561
23 hydronephrosis 31 HP:0000126
24 platyspondyly 31 HP:0000926
25 ventriculomegaly 31 HP:0002119
26 hypospadias 31 HP:0000047
27 telecanthus 31 HP:0000506
28 ventricular septal defect 31 HP:0001629
29 adducted thumb 31 HP:0001181
30 wormian bones 31 HP:0002645
31 cerebellar hypoplasia 31 HP:0001321
32 single umbilical artery 31 HP:0001195
33 decreased skull ossification 31 HP:0004331
34 pulmonary hypoplasia 31 HP:0002089
35 posteriorly rotated ears 31 HP:0000358
36 pleural effusion 31 HP:0002202
37 multiple rib fractures 31 HP:0006640
38 small for gestational age 31 HP:0001518
39 thoracic hypoplasia 31 HP:0005257
40 limb undergrowth 31 HP:0009826
41 short ribs 31 HP:0000773
42 short femur 31 HP:0003097
43 unilateral cleft lip 31 HP:0100333
44 flared metaphysis 31 HP:0003015
45 large fleshy ears 31 HP:0002265
46 multiple prenatal fractures 31 HP:0005855
47 beaded ribs 31 HP:0000923
48 fractured radius 31 HP:0003978
49 decreased fibular diameter 31 HP:0031107

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck
webbed neck
hygroma colli

Head And Neck Nose:
short nose
anteverted nares
broad nasal bridge
hypoplastic nose

Skeletal Skull:
microcephaly
brachycephaly
wormian bones
incomplete ossification of skull

Head And Neck Face:
prominent forehead
flat face
micrognathia

Abdomen External Features:
ascites

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
micropenis
hypospadias

Neurologic Central Nervous System:
ventriculomegaly
hypoplastic cerebellum
vermis agenesis

Respiratory Lung:
pleural effusion
hypoplastic lungs

Skeletal Limbs:
metaphyseal flaring
flexion contractures
short limbs
poorly modeled long bones
humoral fractures
more
Chest External Features:
small thorax
barrel-shaped thorax

Genitourinary Kidneys:
hydronephrosis, bilateral

Head And Neck Eyes:
hypertelorism
telecanthus

Head And Neck Head:
microcephaly
brachycephaly

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
ventricular septal defect

Head And Neck Mouth:
cleft palate
cleft lip

Prenatal Manifestations:
hydrops fetalis

Head And Neck Ears:
low-set ears
posteriorly rotated ears
large fleshy ears

Skeletal Spine:
platyspondyly

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

Chest Ribs Sternum Clavicles And Scapulae:
multiple rib fractures
short ribs
discontinuous beading of ribs on antenatal ultrasound

Skeletal Hands:
adducted thumbs

Prenatal Manifestations Amniotic Fluid:
hydramnios

Skeletal:
generalized osteopenia, severe
multiple fractures (intrauterine)

Clinical features from OMIM®:

616897 (Updated 05-Apr-2021)

Drugs & Therapeutics for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Search Clinical Trials , NIH Clinical Center for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type

Genetic Tests for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Genetic tests related to Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

# Genetic test Affiliating Genes
1 Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type 29 TAPT1

Anatomical Context for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

MalaCards organs/tissues related to Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

40
Cerebellum

Publications for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Articles related to Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

# Title Authors PMID Year
1
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. 6 57 61
26365339 2015

Variations for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

ClinVar genetic disease variations for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAPT1 NM_153365.3(TAPT1):c.1108-1G>C SNV Pathogenic 224906 rs869320633 GRCh37: 4:16176353-16176353
GRCh38: 4:16174730-16174730
2 TAPT1 NM_153365.3(TAPT1):c.1058A>T (p.Asp353Val) SNV Pathogenic 224907 rs869312980 GRCh37: 4:16177791-16177791
GRCh38: 4:16176168-16176168
3 TAPT1 NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile) SNV Pathogenic 690289 rs1338086129 GRCh37: 4:16177817-16177817
GRCh38: 4:16176194-16176194

UniProtKB/Swiss-Prot genetic disease variations for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type:

72
# Symbol AA change Variation ID SNP ID
1 TAPT1 p.Asp353Val VAR_076497 rs869312980

Expression for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Search GEO for disease gene expression data for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type.

Pathways for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

GO Terms for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

Sources for Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....