MCID: SPN297
MIFTS: 43

Spondylocostal Dysostosis 3, Autosomal Recessive

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

Aliases & Classifications for Spondylocostal Dysostosis 3, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 3, Autosomal Recessive:

Name: Spondylocostal Dysostosis 3, Autosomal Recessive 57 75
Spondylocostal Dysostosis 12 53 25 37 15
Spondylocostal Dysostosis, Autosomal Recessive 3 12 13 73
Jarcho-Levin Syndrome 12 25 73
Scdo3 57 75
Scdo 53 25
Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 40
Spondylothoracic Dysostosis 12
Spondylothoracic Dysplasia 12
Dysostosis, Spondylocostal 40
Costovertebral Dysplasia 53

Characteristics:

HPO:

32
spondylocostal dysostosis 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609813
Disease Ontology 12 DOID:0050568
MedGen 42 C1853296
MeSH 44 D004413
KEGG 37 H00517

Summaries for Spondylocostal Dysostosis 3, Autosomal Recessive

NIH Rare Diseases : 53 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited, autosomal recessive or autosomal dominant . Some of the autosomal recessive types of spondylocostal dysostosis are called "Jarcho-Levin syndrome", a term that is more often used as a synonym for a similar condition known as "spondylothoracic dysostosis". Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.

MalaCards based summary : Spondylocostal Dysostosis 3, Autosomal Recessive, also known as spondylocostal dysostosis, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 3, Autosomal Recessive is LFNG (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), and among its related pathways/superpathways are Notch signaling pathway and Notch signaling pathway (KEGG). Affiliated tissues include vertebrae or, bone and spleen, and related phenotypes are slender finger and scoliosis

Disease Ontology : 12 A dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

Genetics Home Reference : 25 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.

UniProtKB/Swiss-Prot : 75 Spondylocostal dysostosis 3, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

Wikipedia : 76 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Description from OMIM: 609813

Related Diseases for Spondylocostal Dysostosis 3, Autosomal Recessive

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive:



Diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 3, Autosomal Recessive

Clinical features from OMIM:

609813

Human phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:

32
# Description HPO Frequency HPO Source Accession
1 slender finger 32 HP:0001238
2 scoliosis 32 HP:0002650
3 vertebral segmentation defect 32 HP:0003422
4 supernumerary vertebral ossification centers 32 HP:0004598

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.91 DLL3 HES7 LFNG MESP2 NOTCH1 RIPPLY2
2 growth/size/body region MP:0005378 9.87 DLL3 HES7 LFNG MESP2 NOTCH1 RIPPLY2
3 limbs/digits/tail MP:0005371 9.73 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
4 mortality/aging MP:0010768 9.7 DLL3 HES7 LFNG MESP2 NOTCH1 RIPPLY2
5 muscle MP:0005369 9.26 DLL3 MESP2 NOTCH1 RIPPLY2
6 skeleton MP:0005390 9.17 DLL3 HES7 LFNG MESP2 NOTCH1 RIPPLY2

Drugs & Therapeutics for Spondylocostal Dysostosis 3, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 3, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 3, Autosomal Recessive

Anatomical Context for Spondylocostal Dysostosis 3, Autosomal Recessive

The Foundational Model of Anatomy Ontology organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:

19
Vertebrae Or

MalaCards organs/tissues related to Spondylocostal Dysostosis 3, Autosomal Recessive:

41
Bone, Spleen

Publications for Spondylocostal Dysostosis 3, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 3, Autosomal Recessive:

(show top 50) (show all 67)
# Title Authors Year
1
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. ( 29765785 )
2018
2
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820 )
2017
3
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
4
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764 )
2016
5
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884 )
2016
6
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680 )
2015
7
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705 )
2015
8
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
9
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
10
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344 )
2015
11
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929 )
2014
12
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313 )
2014
13
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829 )
2013
14
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. ( 23546915 )
2013
15
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. ( 23897666 )
2013
16
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123 )
2013
17
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. ( 23335591 )
2013
18
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. ( 21147753 )
2011
19
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. ( 22052723 )
2011
20
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
21
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. ( 20087400 )
2010
22
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. ( 20503311 )
2010
23
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. ( 19247767 )
2009
24
Spondylocostal dysostosis associated with methylmalonic aciduria. ( 19371216 )
2009
25
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. ( 18520929 )
2008
26
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. ( 18627039 )
2008
27
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ( 18775957 )
2008
28
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. ( 18388793 )
2008
29
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? ( 17056308 )
2007
30
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. ( 16567446 )
2006
31
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. ( 16619382 )
2006
32
Spine and rib abnormalities and stature in spondylocostal dysostosis. ( 16582839 )
2006
33
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. ( 16385447 )
2006
34
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. ( 16509479 )
2006
35
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. ( 15200511 )
2004
36
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. ( 15223937 )
2004
37
[Spondylocostal dysostosis: a rare genetic disease]. ( 15562550 )
2004
38
Mutated MESP2 causes spondylocostal dysostosis in humans. ( 15122512 )
2004
39
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. ( 12746394 )
2003
40
Association of spondylocostal dysostosis and type I split cord malformation. ( 14600825 )
2003
41
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. ( 12868087 )
2003
42
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. ( 12791036 )
2003
43
Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap. ( 12142673 )
2002
44
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. ( 11118901 )
2001
45
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. ( 10742114 )
2000
46
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. ( 10204217 )
1999
47
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ( 10364530 )
1999
48
A case of spondylocostal dysostosis with a fra (5) (q32). ( 9433158 )
1997
49
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. ( 9354844 )
1997
50
Spondylocostal dysostosis with perinatal death and meningomyelocele. ( 8159620 )
1994

Variations for Spondylocostal Dysostosis 3, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 LFNG p.Phe188Leu VAR_025850 rs104894024

ClinVar genetic disease variations for Spondylocostal Dysostosis 3, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh37 Chromosome 7, 2564935: 2564935
2 LFNG NM_001040167.1(LFNG): c.564C> A (p.Phe188Leu) single nucleotide variant Pathogenic rs104894024 GRCh38 Chromosome 7, 2525301: 2525301
3 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh37 Chromosome 7, 2564849: 2564849
4 LFNG NM_001040167.1(LFNG): c.482-4A> G single nucleotide variant Benign rs62444250 GRCh38 Chromosome 7, 2525215: 2525215
5 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 2565109: 2565109
6 LFNG NM_001040167.1(LFNG): c.643G> A (p.Ala215Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 2525475: 2525475
7 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh37 Chromosome 7, 2565119: 2565119
8 LFNG NM_001040167.1(LFNG): c.653C> T (p.Pro218Leu) single nucleotide variant Uncertain significance rs148460430 GRCh38 Chromosome 7, 2525485: 2525485
9 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh38 Chromosome 7, 2525555: 2525555
10 LFNG NM_001040167.1(LFNG): c.723C> T (p.Ser241=) single nucleotide variant Likely benign rs115678269 GRCh37 Chromosome 7, 2565189: 2565189

Copy number variations for Spondylocostal Dysostosis 3, Autosomal Recessive from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 96229 15 86900000 92100000 Copy number MESP2 Spondylocostal dysostosis
2 116536 17 6800000 11200000 Copy number HES7 Spondylocostal dysostosis
3 128868 19 43400000 47800000 Copy number DLL3 Spondylocostal dysostosis
4 223467 7 2100000 4500000 Copy number LFNG Spondylocostal dysostosis

Expression for Spondylocostal Dysostosis 3, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 3, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 3, Autosomal Recessive

Pathways related to Spondylocostal Dysostosis 3, Autosomal Recessive according to KEGG:

37
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Spondylocostal Dysostosis 3, Autosomal Recessive

Biological processes related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.81 HES7 NOTCH1 RIPPLY2 TBX6
2 multicellular organism development GO:0007275 9.8 DLL3 HES7 LFNG MESP2 NOTCH1 RIPPLY2
3 determination of left/right symmetry GO:0007368 9.56 NOTCH1 RIPPLY2
4 positive regulation of Notch signaling pathway GO:0045747 9.55 LFNG NOTCH1
5 mesoderm development GO:0007498 9.54 HES7 TBX6
6 mesoderm formation GO:0001707 9.52 MESP2 TBX6
7 regulation of somitogenesis GO:0014807 9.5 HES7 LFNG NOTCH1
8 embryonic pattern specification GO:0009880 9.49 MESP2 RIPPLY2
9 cell fate specification GO:0001708 9.48 NOTCH1 TBX6
10 negative regulation of neurogenesis GO:0050768 9.46 DLL3 NOTCH1
11 post-anal tail morphogenesis GO:0036342 9.43 HES7 RIPPLY2
12 regulation of Notch signaling pathway GO:0008593 9.4 LFNG NOTCH1
13 somite rostral/caudal axis specification GO:0032525 9.37 RIPPLY2 TBX6
14 Notch signaling pathway GO:0007219 9.35 DLL3 HES7 MESP2 NOTCH1 RIPPLY2
15 compartment pattern specification GO:0007386 9.33 DLL3 LFNG NOTCH1
16 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2

Molecular functions related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 8.62 DLL3 NOTCH1

Sources for Spondylocostal Dysostosis 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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42 MedGen
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45 MESH via Orphanet
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49 NCI
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62 PubMed
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69 SNOMED-CT via HPO
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