SCDO3
MCID: SPN297
MIFTS: 54

Spondylocostal Dysostosis 3, Autosomal Recessive (SCDO3)

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

Aliases & Classifications for Spondylocostal Dysostosis 3, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 3, Autosomal Recessive:

Name: Spondylocostal Dysostosis 3, Autosomal Recessive 56 52 73
Spondylocostal Dysostosis 12 52 25 36 15
Spondylocostal Dysostosis, Autosomal Recessive 3 12 13 71
Spondylocostal Dysostosis 3 52 29 6
Jarcho-Levin Syndrome 12 25 71
Scdo3 56 73
Scdo 52 25
Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 39
Spondylothoracic Dysostosis 12
Spondylothoracic Dysplasia 12
Dysostosis, Spondylocostal 39
Costovertebral Dysplasia 52
Scod3 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two patients have been independently reported (last curated february 2019)


HPO:

31
spondylocostal dysostosis 3, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050568
OMIM 56 609813
OMIM Phenotypic Series 56 PS277300
KEGG 36 H00517
MeSH 43 D004413
MedGen 41 C1853296
UMLS 71 C0265343 C1853296

Summaries for Spondylocostal Dysostosis 3, Autosomal Recessive

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. The spine and rib abnormalities, which are present from birth, cause other signs and symptoms of spondylocostal dysostosis. Infants with this condition have small chests that cannot expand adequately, often leading to life-threatening breathing problems. As the lungs expand in the narrow chest, the muscle that separates the abdomen from the chest cavity (the diaphragm) is forced down and the abdomen is pushed out. The increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis. Some people with spondylocostal dysostosis also have a type of birth defect known as a neural tube defect. Neural tube defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Examples of neural tube defects that occur in people with spondylocostal dysostosis include a spinal cord abnormality known as spina bifida and a brain abnormality called a Chiari malformation. Although breathing problems can be fatal early in life, many affected individuals live into adulthood. Spondylocostal dysostosis has often been grouped with a similar condition called spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin syndrome; however, they are now considered distinct conditions.

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 PI3K-Akt signaling pathway. Affiliated tissues include vertebrae, ribs and bone, and related phenotypes are scoliosis and kyphosis

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.

NIH Rare Diseases : 52 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.

KEGG : 36 Spondylocostal dysostosis (SCDO) is a group of disorders characterized by vertebral defects along the entire spinal column with rib fusions and deletions. SCD arises from disturbed somite segmentation during embryonic development due to mutations in Notch pathway genes.

UniProtKB/Swiss-Prot : 73 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 : 74 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

More information from OMIM: 609813 PS277300

Related Diseases for Spondylocostal Dysostosis 3, Autosomal Recessive

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 6, Autosomal Recessive

Diseases related to Spondylocostal Dysostosis 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 34.2 TBX6 HES7
2 spondylocostal dysostosis 1, autosomal recessive 32.4 PAX1 MESP2 LFNG HES7 DLL3
3 dysostosis 30.7 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
4 spina bifida occulta 30.5 MESP2 HES7
5 meningocele 30.3 NOTCH3 MESP2 HES7
6 spondylocostal dysostosis, autosomal recessive 30.3 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
7 scoliosis 30.0 TBX6 RIPPLY2 PAX1 MESP2 LFNG HES7
8 spinal disease 29.7 TBX6 RIPPLY2 PAX1 MESP2 HES7
9 spondylocostal dysostosis 6, autosomal recessive 12.9
10 spondylocostal dysostosis 4, autosomal recessive 12.9
11 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.7
12 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 12.4
13 neural tube defects 10.8
14 respiratory failure 10.7
15 hydrocephalus 10.6
16 diastematomyelia 10.5
17 syringomyelia, noncommunicating isolated 10.4
18 vesicoureteral reflux 1 10.4
19 chiari malformation type ii 10.4
20 syringomyelia 10.4
21 lung disease 10.4
22 chiari malformation 10.4
23 oliver syndrome 10.3 RBPJ NOTCH1
24 meckel diverticulum 10.3
25 osteoporosis 10.3
26 pancreas, annular 10.3
27 anus, imperforate 10.3
28 duodenal atresia 10.3
29 wilms tumor 5 10.3
30 bone mineral density quantitative trait locus 8 10.3
31 bone mineral density quantitative trait locus 15 10.3
32 pulmonary hypertension 10.3
33 myelomeningocele 10.3
34 intestinal atresia 10.3
35 placenta praevia 10.3
36 synostosis 10.3
37 hypothyroidism 10.3
38 heart septal defect 10.3
39 atrial heart septal defect 10.3
40 glomus tumor 10.3
41 holoprosencephaly 10.3
42 polyhydramnios 10.3
43 skeletal dysplasias 10.3
44 back pain 10.3
45 overgrowth syndrome 10.3
46 diaphragmatic hernia, congenital 10.2
47 robinow syndrome, autosomal recessive 1 10.2
48 spondylocostal dysostosis with anal atresia and urogenital anomalies 10.2
49 spondylocostal dysostosis 2, autosomal recessive 10.2
50 autosomal recessive disease 10.2

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

Human phenotypes related to Spondylocostal Dysostosis 3, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 short stature 31 HP:0004322
4 vertebral segmentation defect 31 HP:0003422
5 rib fusion 31 HP:0000902
6 slender finger 31 HP:0001238
7 hypoplasia of the odontoid process 31 HP:0003311
8 supernumerary vertebral ossification centers 31 HP:0004598

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis
hypoplastic odontoid process
multiple vertebral anomalies
'pebble-beach' appearance of vertebral bodies
multiple vertebral ossification centers
more
Chest Ribs Sternum Clavicles And Scapulae:
fused ribs

Skeletal Limbs:
normal long bones

Growth Height:
short stature

Skeletal Pelvis:
normal pelvis

Clinical features from OMIM:

609813

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

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.43 DLL1 DLL3 HES7 JAG1 LFNG MESP2
2 growth/size/body region MP:0005378 10.4 DLL1 DLL3 HES7 JAG1 LFNG MESP2
3 cardiovascular system MP:0005385 10.33 DLL1 JAG1 LFNG MESP2 NOTCH1 NOTCH2
4 mortality/aging MP:0010768 10.33 DLL1 DLL3 HES7 JAG1 LFNG MESP2
5 endocrine/exocrine gland MP:0005379 10.25 DLL1 JAG1 LFNG NOTCH1 NOTCH2 NOTCH3
6 cellular MP:0005384 10.24 DLL1 JAG1 MESP2 NOTCH1 NOTCH2 NOTCH3
7 nervous system MP:0003631 10.17 DLL1 DLL3 JAG1 LFNG MESP2 NOTCH1
8 limbs/digits/tail MP:0005371 10.13 DLL1 DLL3 HES7 LFNG MESP2 NOTCH2
9 muscle MP:0005369 10.11 DLL1 DLL3 JAG1 MESP2 NOTCH1 NOTCH2
10 integument MP:0010771 10.06 JAG1 MESP2 NOTCH1 NOTCH2 NOTCH3 PAX1
11 hearing/vestibular/ear MP:0005377 9.95 DLL1 DLL3 JAG1 LFNG NOTCH1 NOTCH3
12 normal MP:0002873 9.86 DLL1 JAG1 MESP2 NOTCH1 NOTCH2 NOTCH3
13 renal/urinary system MP:0005367 9.81 DLL1 JAG1 NOTCH1 NOTCH2 NOTCH3 PAX1
14 respiratory system MP:0005388 9.56 LFNG NOTCH1 NOTCH2 NOTCH3 POFUT1 RBPJ
15 skeleton MP:0005390 9.5 DLL1 DLL3 HES7 JAG1 LFNG MESP2

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

Genetic tests related to Spondylocostal Dysostosis 3, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 3 29 LFNG

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, Ribs

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

40
Bone, Spinal Cord, Brain, Lung, Spleen, Kidney

Publications for Spondylocostal Dysostosis 3, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 3, Autosomal Recessive:

(show top 50) (show all 153)
# Title Authors PMID Year
1
Identification of novel LFNG mutations in spondylocostal dysostosis. 6 56 61
30531807 2019
2
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. 56 6 61
16385447 2006
3
Spondylocostal Dysostosis, Autosomal Recessive 61 6
20301771 2009
4
Mutated MESP2 causes spondylocostal dysostosis in humans. 56 61
15122512 2004
5
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. 61
31015262 2019
6
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis. 61
31448202 2019
7
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells. 61
31461642 2019
8
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series. 61
30921094 2019
9
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up. 61
30448585 2019
10
Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations. 61
31597143 2019
11
A Cryptic Cause of Cardiac Arrest. 61
30420309 2019
12
Screening of known disease genes in congenital scoliosis. 61
30196550 2018
13
Spondylocostal Dysostosis (Jarcho Levin Syndrome). 61
29270795 2018
14
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. 61
29459493 2018
15
Homozygous DMRT2 variant associates with severe rib malformations in a newborn. 61
29681102 2018
16
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. 61
29765785 2018
17
Response to Lefebvre et al. 61
28990171 2017
18
Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention. 61
29675085 2017
19
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. 61
27861764 2017
20
The developmental biology of genetic Notch disorders. 61
28512196 2017
21
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. 61
28054739 2017
22
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. 61
28196820 2017
23
Congenital hemangioma in spondylocostal dysostosis: a novel association. 61
28300884 2016
24
Mind the gap: an unusual case of a cervical lipomyelocele. 61
27594964 2016
25
[Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room]. 61
29421389 2016
26
Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype. 61
26367183 2016
27
Context-Dependent Sensitivity to Mutations Disrupting the Structural Integrity of Individual EGF Repeats in the Mouse Notch Ligand DLL1. 61
26801181 2016
28
The many roles of Notch signaling during vertebrate somitogenesis. 61
25483003 2016
29
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. 61
26962344 2015
30
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. 61
26167215 2015
31
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome). 61
25304117 2015
32
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. 61
25659135 2015
33
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. 61
26222705 2015
34
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. 61
26090680 2015
35
Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs). 61
25378514 2014
36
Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele. 61
25323186 2014
37
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. 61
25624929 2014
38
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. 61
24666313 2014
39
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 61
23897666 2013
40
Notch signaling in skeletal health and disease. 61
23554451 2013
41
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 61
23335591 2013
42
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. 61
23238123 2013
43
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. 61
23599829 2013
44
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation. 61
24051442 2013
45
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. 61
23546915 2013
46
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome? 61
23166036 2012
47
Notch signaling in human development and disease. 61
22306179 2012
48
Notch regulation of bone development and remodeling and related skeletal disorders. 61
22002679 2012
49
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. 61
22052723 2011
50
The mouse notches up another success: understanding the causes of human vertebral malformation. 61
21667129 2011

Variations for Spondylocostal Dysostosis 3, Autosomal Recessive

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LFNG NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)SNV Pathogenic 6999 rs104894024 7:2564935-2564935 7:2525301-2525301
2 LFNG NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn)SNV Pathogenic 619139 rs1211456697 7:2565067-2565067 7:2525433-2525433
3 LFNG NM_001040167.2(LFNG):c.372del (p.Lys124fs)deletion Pathogenic 619140 rs1562551396 7:2559867-2559867 7:2520233-2520233
4 LFNG NM_001040167.2(LFNG):c.715C>T (p.Arg239Trp)SNV Uncertain significance 665982 7:2565181-2565181 7:2525547-2525547
5 LFNG NM_001040167.2(LFNG):c.1013A>T (p.Glu338Val)SNV Uncertain significance 661901 7:2566495-2566495 7:2526861-2526861
6 LFNG NM_001040167.2(LFNG):c.643G>A (p.Ala215Thr)SNV Uncertain significance 465827 rs1160316709 7:2565109-2565109 7:2525475-2525475
7 LFNG NM_001040167.2(LFNG):c.653C>T (p.Pro218Leu)SNV Uncertain significance 465828 rs148460430 7:2565119-2565119 7:2525485-2525485
8 LFNG NM_001040167.2(LFNG):c.723C>T (p.Ser241=)SNV Likely benign 534226 rs115678269 7:2565189-2565189 7:2525555-2525555
9 LFNG NM_001040167.2(LFNG):c.482-4A>GSNV Benign 257266 rs62444250 7:2564849-2564849 7:2525215-2525215

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

73
# Symbol AA change Variation ID SNP ID
1 LFNG p.Phe188Leu VAR_025850 rs104894024

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

7
# CNVD ID Chromosome 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:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG1
2
Show member pathways
12.82 RBPJ POGLUT1 POFUT1 NOTCH3 NOTCH2 NOTCH1
3 12.78 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3 DLL1
4
Show member pathways
12.71 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3 DLL1
5
Show member pathways
12.61 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3 DLL1
6
Show member pathways
12.56 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3
7
Show member pathways
12.42 RBPJ POFUT1 NOTCH3 NOTCH2 NOTCH1 LFNG
8
Show member pathways
12.39 TBX6 NOTCH1 HES7 DLL1
9
Show member pathways
12.15 RBPJ NOTCH1 LFNG JAG1 DLL1
10
Show member pathways
12.06 RBPJ NOTCH2 NOTCH1 JAG1 DLL1
11 12.04 RBPJ NOTCH3 NOTCH2 NOTCH1
12 12.02 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG JAG1
13
Show member pathways
12.01 RBPJ POGLUT1 POFUT1 NOTCH3 NOTCH2 NOTCH1
14
Show member pathways
11.97 NOTCH3 NOTCH2 NOTCH1
15 11.88 NOTCH3 NOTCH2 NOTCH1
16 11.87 TBX6 RBPJ NOTCH3 NOTCH2 NOTCH1 DLL3
17 11.86 NOTCH3 NOTCH2 NOTCH1
18 11.81 NOTCH3 NOTCH2 NOTCH1 JAG1
19
Show member pathways
11.79 POGLUT1 POFUT1 LFNG
20 11.44 RBPJ NOTCH1 JAG1
21 11.43 RBPJ NOTCH1 DLL1
22 11.34 RBPJ POFUT1 NOTCH2 NOTCH1
23 11.28 RBPJ NOTCH3 NOTCH2 NOTCH1 LFNG
24 11.01 NOTCH1 JAG1 DLL3 DLL1
25 10.85 NOTCH1 JAG1
26 10.6 RBPJ NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3
27 10.54 TBX6 RIPPLY2 NOTCH1 MESP2 LFNG HES7

GO Terms for Spondylocostal Dysostosis 3, Autosomal Recessive

Cellular components related to Spondylocostal Dysostosis 3, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.43 UNCX TBX6 RBPJ PAX1 MESP2 HES7
2 adherens junction GO:0005912 9.33 NOTCH1 JAG1 DLL1
3 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 RBPJ NOTCH1

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

(show top 50) (show all 66)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.23 TBX6 RBPJ PAX1 NOTCH3 NOTCH1 JAG1
2 cell differentiation GO:0030154 10.21 UNCX NOTCH3 NOTCH2 NOTCH1 HES7 DLL3
3 regulation of transcription, DNA-templated GO:0006355 10.17 UNCX TBX6 SRRT RBPJ POFUT1 PAX1
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.16 TBX6 RIPPLY2 RBPJ NOTCH3 NOTCH2 NOTCH1
5 regulation of gene expression GO:0010468 10.02 UNCX RIPPLY2 RBPJ NOTCH1
6 angiogenesis GO:0001525 10.01 RBPJ POFUT1 NOTCH1 JAG1
7 multicellular organism development GO:0007275 10 UNCX TBX6 RIPPLY2 POGLUT1 PAX1 NOTCH3
8 transcription initiation from RNA polymerase II promoter GO:0006367 9.98 RBPJ NOTCH3 NOTCH2 NOTCH1
9 animal organ morphogenesis GO:0009887 9.91 NOTCH2 LFNG JAG1
10 hemopoiesis GO:0030097 9.9 RBPJ NOTCH2 JAG1 DLL1
11 determination of left/right symmetry GO:0007368 9.88 RIPPLY2 NOTCH1 DLL1
12 pattern specification process GO:0007389 9.87 UNCX PAX1 LFNG
13 humoral immune response GO:0006959 9.87 RBPJ NOTCH2 NOTCH1
14 negative regulation of neuron differentiation GO:0045665 9.87 NOTCH3 NOTCH1 JAG1 DLL1
15 keratinocyte differentiation GO:0030216 9.86 RBPJ NOTCH1 JAG1
16 heart looping GO:0001947 9.86 TBX6 NOTCH2 NOTCH1 DLL1
17 regulation of neurogenesis GO:0050767 9.84 NOTCH1 HES7 DLL1
18 negative regulation of Notch signaling pathway GO:0045746 9.84 NOTCH3 JAG1 DLL3 DLL1
19 positive regulation of BMP signaling pathway GO:0030513 9.81 RBPJ NOTCH2 NOTCH1
20 negative regulation of cell differentiation GO:0045596 9.8 RBPJ NOTCH3 NOTCH1 JAG1 DLL1
21 positive regulation of transcription of Notch receptor target GO:0007221 9.79 RBPJ NOTCH3 NOTCH1
22 cell fate determination GO:0001709 9.78 NOTCH2 JAG1 DLL1
23 neuronal stem cell population maintenance GO:0097150 9.78 SRRT NOTCH1 JAG1 DLL1
24 inflammatory response to antigenic stimulus GO:0002437 9.77 RBPJ NOTCH2 NOTCH1
25 pulmonary valve morphogenesis GO:0003184 9.76 NOTCH2 NOTCH1 JAG1
26 regulation of Notch signaling pathway GO:0008593 9.76 POGLUT1 POFUT1 NOTCH1 LFNG
27 left/right axis specification GO:0070986 9.75 NOTCH2 NOTCH1 DLL1
28 artery morphogenesis GO:0048844 9.74 RBPJ NOTCH3
29 negative regulation of myoblast differentiation GO:0045662 9.73 NOTCH1 DLL1
30 negative regulation of ossification GO:0030279 9.73 RBPJ NOTCH1
31 myeloid dendritic cell differentiation GO:0043011 9.73 RBPJ NOTCH2
32 post-anal tail morphogenesis GO:0036342 9.73 RIPPLY2 HES7
33 ventricular trabecula myocardium morphogenesis GO:0003222 9.73 RBPJ NOTCH1
34 negative regulation of stem cell differentiation GO:2000737 9.73 NOTCH1 JAG1
35 positive regulation of Notch signaling pathway GO:0045747 9.73 RBPJ POGLUT1 NOTCH1 LFNG JAG1 DLL1
36 cardiac septum morphogenesis GO:0060411 9.72 NOTCH1 JAG1
37 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.72 RBPJ NOTCH1
38 nephron development GO:0072006 9.72 JAG1 DLL1
39 response to muramyl dipeptide GO:0032495 9.72 NOTCH1 JAG1
40 marginal zone B cell differentiation GO:0002315 9.72 NOTCH2 LFNG DLL1
41 somite rostral/caudal axis specification GO:0032525 9.71 TBX6 RIPPLY2
42 cardiac left ventricle morphogenesis GO:0003214 9.71 RBPJ NOTCH1
43 morphogenesis of an epithelial sheet GO:0002011 9.71 NOTCH2 JAG1
44 paraxial mesoderm development GO:0048339 9.7 POGLUT1 DLL3
45 glomerular visceral epithelial cell development GO:0072015 9.7 NOTCH2 JAG1
46 protein O-linked fucosylation GO:0036066 9.7 POFUT1 LFNG
47 interleukin-4 secretion GO:0072602 9.7 RBPJ NOTCH2 NOTCH1
48 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.69 RBPJ NOTCH1
49 regulation of somitogenesis GO:0014807 9.69 NOTCH1 LFNG DLL1
50 proximal tubule development GO:0072014 9.68 NOTCH2 DLL1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.63 UNCX TBX6 RBPJ PAX1 MESP2 HES7
2 calcium ion binding GO:0005509 9.43 NOTCH3 NOTCH2 NOTCH1 JAG1 DLL3 DLL1
3 Notch binding GO:0005112 8.92 NOTCH1 JAG1 DLL3 DLL1

Sources for Spondylocostal Dysostosis 3, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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