MCID: OST153
MIFTS: 26

Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type

Categories: Genetic diseases, Bone diseases, Fetal 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 75 29 6
Oclsbg 57 75
Complex Lethal Osteochondrodysplasia, Symoens-Barnes-Gistelinck Type 59
Complex Lethal Osteochondrodysplasia 59

Characteristics:

Orphanet epidemiological data:

59
complex lethal osteochondrodysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal,stillbirth;

OMIM:

57
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:

32
osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type, also known as oclsbg, is related to osteochondrodysplasia. An important gene associated with Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type is TAPT1 (Transmembrane Anterior Posterior Transformation 1). Affiliated tissues include lung, kidney and brain, and related phenotypes are hypospadias and micropenis

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)

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 osteochondrodysplasia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
telecanthus

Head And Neck Neck:
short neck
webbed neck
hygroma colli

Head And Neck Head:
microcephaly
brachycephaly

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
ventricular septal defect

Abdomen External Features:
ascites

Skeletal Spine:
platyspondyly

Growth Other:
intrauterine growth retardation

Genitourinary External Genitalia Male:
hypospadias
micropenis

Respiratory Lung:
pleural effusion
hypoplastic lungs

Skeletal Limbs:
metaphyseal flaring
flexion contractures
short limbs
poorly modeled long bones
humoral fractures
more
Skeletal Hands:
adducted thumbs

Skeletal:
generalized osteopenia, severe
multiple fractures (intrauterine)

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

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
micrognathia
flat face

Head And Neck Mouth:
cleft palate
cleft lip

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis
hydramnios

Neurologic Central Nervous System:
ventriculomegaly
hypoplastic cerebellum
vermis agenesis

Prenatal Manifestations Placenta And Umbilical Cord:
single umbilical artery

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

Chest External Features:
small thorax
barrel-shaped thorax

Genitourinary Kidneys:
hydronephrosis, bilateral


Clinical features from OMIM:

616897

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

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

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:

41
Lung, Kidney, Brain, Bone, Cerebellum

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

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

# Title Authors Year
1
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia. ( 26365339 )
2015

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

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

75
# Symbol AA change Variation ID SNP ID
1 TAPT1 p.Asp353Val VAR_076497 rs869312980

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAPT1 NM_153365.2(TAPT1): c.1108-1G> C single nucleotide variant Pathogenic rs869320633 GRCh38 Chromosome 4, 16174730: 16174730
2 TAPT1 NM_153365.2(TAPT1): c.1108-1G> C single nucleotide variant Pathogenic rs869320633 GRCh37 Chromosome 4, 16176353: 16176353
3 TAPT1 NM_153365.2(TAPT1): c.1058A> T (p.Asp353Val) single nucleotide variant Pathogenic rs869312980 GRCh37 Chromosome 4, 16177791: 16177791
4 TAPT1 NM_153365.2(TAPT1): c.1058A> T (p.Asp353Val) single nucleotide variant Pathogenic rs869312980 GRCh38 Chromosome 4, 16176168: 16176168

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...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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