SCDO1
MCID: SPN310
MIFTS: 45

Spondylocostal Dysostosis 1, Autosomal Recessive (SCDO1)

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

Aliases & Classifications for Spondylocostal Dysostosis 1, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 1, Autosomal Recessive:

Name: Spondylocostal Dysostosis 1, Autosomal Recessive 57 72 29 6
Jarcho-Levin Syndrome 57 73 72 29 6 70
Scdo1 57 20 72
Spondylothoracic Dysostosis 57 72
Spondylothoracic Dysplasia 57 72
Costovertebral Dysplasia 57 72
Vertebral Anomalies 57 54
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1 39
Spondylocostal Dysostosis, Autosomal Recessive, 1 13
Spondylocostal Dysostosis 1 Autosomal Recessive 20
Spondylocostal Dysostosis 1 20

Characteristics:

OMIM®:

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

Miscellaneous:
infantile death


HPO:

31
spondylocostal dysostosis 1, autosomal recessive:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 277300
OMIM Phenotypic Series 57 PS277300
MeSH 44 D004413
MedGen 41 C0265343
UMLS 70 C0265343

Summaries for Spondylocostal Dysostosis 1, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spondylocostal dysostosis 1, 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.

MalaCards based summary : Spondylocostal Dysostosis 1, Autosomal Recessive, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 3, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 1, Autosomal Recessive is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Notch Signaling Pathway (sino) and Gene regulatory network modelling somitogenesis. Affiliated tissues include heart, and related phenotypes are back pain and short neck

OMIM® : 57 The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). (277300) (Updated 05-Apr-2021)

Wikipedia : 73 Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial... more...

Related Diseases for Spondylocostal Dysostosis 1, 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 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 32.2 MESP2 HES7
2 spondylocostal dysostosis 3, autosomal recessive 31.2 MESP2 LFNG HES7 DLL3
3 lateral meningocele syndrome 30.8 MESP2 HES7
4 hajdu-cheney syndrome 30.4 MESP2 LFNG HES7 DLL3
5 meningocele 29.6 MESP2 HES7
6 dysostosis 29.4 PLEKHG2 MESP2 LFNG HES7 DLL3
7 spondylocostal dysostosis, autosomal recessive 29.0 PLEKHG2 MESP2 LFNG HES7 DLL3
8 scoliosis 28.9 PAX1 MESP2 LFNG HES7 DLL3
9 spina bifida occulta 28.9 PAX1 MESP2 HES7
10 sacral defect with anterior meningocele 28.8 MESP2 LFNG HES7
11 klippel-feil syndrome 28.6 PAX1 MESP2 LFNG HES7
12 alagille syndrome 1 28.5 MESP2 LFNG HES7 DLL3
13 sacral agenesis with vertebral anomalies 11.6
14 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.6
15 vertebral anomalies and variable endocrine and t-cell dysfunction 11.6
16 ophthalmoplegia, external, with rib and vertebral anomalies 11.5
17 cleft palate short stature vertebral anomalies 11.5
18 polydactyly, postaxial, with dental and vertebral anomalies 11.2
19 feingold syndrome 1 11.1
20 tethered spinal cord syndrome 11.1
21 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 11.1
22 robinow syndrome, autosomal dominant 1 11.1
23 vacterl association with hydrocephalus 11.1
24 vacterl association, x-linked, with or without hydrocephalus 11.1
25 vater/vacterl association 11.0
26 acrofacial dysostosis 1, nager type 10.9
27 oculocerebrocutaneous syndrome 10.9
28 pseudoachondroplasia 10.9
29 steinfeld syndrome 10.9
30 microphthalmia with limb anomalies 10.9
31 aprosencephaly syndrome 10.9
32 ritscher-schinzel syndrome 1 10.9
33 holoprosencephaly 13, x-linked 10.9
34 mesomelia-synostoses syndrome 10.9
35 feingold syndrome 2 10.9
36 verheij syndrome 10.9
37 anophthalmos with limb anomalies 10.9
38 diphallia 10.9
39 ichthyosis follicularis atrichia photophobia syndrome 10.9
40 thoraco abdominal enteric duplication 10.9
41 respiratory failure 10.5
42 hydrocephalus 10.4
43 anus, imperforate 10.3
44 vesicoureteral reflux 1 10.3
45 chiari malformation type ii 10.3
46 chiari malformation 10.3
47 polydactyly 10.2
48 cleft palate, isolated 10.2
49 osteoporosis 10.1
50 pancreas, annular 10.1

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 1, Autosomal Recessive:



Diseases related to Spondylocostal Dysostosis 1, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 1, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 back pain 31 very rare (1%) HP:0003418
2 short neck 31 HP:0000470
3 recurrent respiratory infections 31 HP:0002205
4 disproportionate short-trunk short stature 31 HP:0003521
5 kyphoscoliosis 31 HP:0002751
6 hemivertebrae 31 HP:0002937
7 vertebral segmentation defect 31 HP:0003422
8 rib fusion 31 HP:0000902
9 block vertebrae 31 HP:0003305
10 severe short stature 31 HP:0003510
11 abdominal distention 31 HP:0003270
12 abnormality of the odontoid process 31 HP:0003310

Symptoms via clinical synopsis from OMIM®:

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

Growth Height:
dwarfism
short trunk

Growth Other:
normal length limbs

Respiratory:
respiratory infection

Skeletal Spine:
hemivertebrae
vertebral fusion
block vertebrae
abnormal odontoid process

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies
fused ribs

Skeletal Limbs:
normal length limbs

Clinical features from OMIM®:

277300 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.55 DLL3 HES7 LFNG MESP2 PAX1
2 limbs/digits/tail MP:0005371 9.35 DLL3 HES7 LFNG MESP2 PAX1
3 skeleton MP:0005390 9.02 DLL3 HES7 LFNG MESP2 PAX1

Drugs & Therapeutics for Spondylocostal Dysostosis 1, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 1, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 1, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 1, Autosomal Recessive 29 DLL3 MESP2
2 Jarcho-Levin Syndrome 29 HES7 LFNG MESP2

Anatomical Context for Spondylocostal Dysostosis 1, Autosomal Recessive

MalaCards organs/tissues related to Spondylocostal Dysostosis 1, Autosomal Recessive:

40
Heart

Publications for Spondylocostal Dysostosis 1, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 1, Autosomal Recessive:

(show top 50) (show all 146)
# Title Authors PMID Year
1
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. 57 6
15200511 2004
2
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 6 57
10742114 2000
3
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. 6 57
2805381 1989
4
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. 57 61 54
12833407 2003
5
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. 61 57
8723567 1996
6
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. 61 57
8834041 1996
7
Jarcho-Levin syndrome: unusual survival in a classical case. 61 57
8209895 1994
8
Jarcho-Levin syndrome: four new cases and classification of subtypes. 61 57
1951427 1991
9
Familial Jarcho-Levin syndrome. 61 57
2070546 1991
10
Spondylocostal dysplasia and neural tube defects. 61 57
1999834 1991
11
Spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome. 61 57
1274901 1976
12
Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature. 57 61
4372555 1974
13
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. 57
22052723 2011
14
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. 57
20503311 2010
15
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. 57
16385447 2006
16
Mutated MESP2 causes spondylocostal dysostosis in humans. 57
15122512 2004
17
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. 6
14708096 2004
18
Diaphragmatic hernia and preaxial polydactyly in spondylothoracic dysplasia. 57
14564219 2003
19
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. 6
12791036 2003
20
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. 57
12746394 2003
21
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. 57
11146471 2000
22
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. 57
10364530 1999
23
Monozygotic twins discordant for spondylocostal dysostosis. 57
7747763 1994
24
Identical twins with an autosomal recessive form of spondylocostal dysostosis. 57
1623623 1992
25
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. 57
1999829 1991
26
Spondylocostal dysostosis. 57
6694190 1984
27
[Spondylocostal dysostosis. Report of 5 cases including siblings and an atypical case]. 57
6835216 1983
28
[Costovertebral dysplasia. A receptor defect of sclerotome development?]. 57
7100875 1982
29
Spondylocostal dysostosis in South African sisters. 57
7460377 1981
30
Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity. 57
668719 1978
31
Spondylothoracic dysostosis: report of two cases and review of the literature. 57
350188 1978
32
Spondylothoracic dysplasia in two siblings. A short neck and trunk due to vertebral body abnormalities along with abnormal ribs should suggest this rare syndrome. 57
589884 1977
33
The autosomal recessive form of spondylocostal dysostosis. 57
4843303 1974
34
Spondylo-thoracic dysplasia in three sisters. 57
4718686 1973
35
Evidence for autosomal recessive inheritance of costovertebral dysplasia. 57
5111758 1971
36
Bizarre deformities in offspring of user of lysergic acid diethylamide. 57
5429806 1970
37
Spondylothoracic dysplasia--a syndrome of congenital anomalies. 57
5769299 1969
38
A syndrome of bizarre vertebral anomalies. 57
5953839 1966
39
A case report of Jarcho-Levin syndrome. 61
33679190 2021
40
Urinary bladder neck diverticular stone in patient with multiple congenital anomaly (Jarcho-Levin syndrome). 61
33102051 2020
41
Anaesthetic considerations in a parturient with Jarcho-Levin syndrome. 61
31402308 2020
42
Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family. 61
32518573 2019
43
Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case. 61
31479788 2019
44
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up. 61
30448585 2019
45
Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid. 61
28608177 2018
46
Spondylocostal Dysostosis (Jarcho Levin Syndrome). 61
29270795 2018
47
Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention. 61
29675085 2017
48
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
49
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. 61
27739421 2016
50
A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome. 61
26239489 2016

Variations for Spondylocostal Dysostosis 1, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis 1, Autosomal Recessive:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DLL3 NM_203486.3(DLL3):c.945_946del (p.Ala317fs) Deletion Pathogenic 6829 rs786200900 GRCh37: 19:39995943-39995944
GRCh38: 19:39505303-39505304
2 DLL3 NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) SNV Pathogenic 6830 rs104894674 GRCh37: 19:39997739-39997739
GRCh38: 19:39507099-39507099
3 DLL3 NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) Duplication Pathogenic 6831 rs777791545 GRCh37: 19:39997869-39997870
GRCh38: 19:39507229-39507230
4 DLL3 NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) SNV Pathogenic 6833 rs104894675 GRCh37: 19:39994770-39994770
GRCh38: 19:39504130-39504130
5 DLL3 NM_203486.3(DLL3):c.1440del (p.Pro481fs) Deletion Pathogenic 6834 rs786200903 GRCh37: 19:39998025-39998025
GRCh38: 19:39507385-39507385
6 DLL3 NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) SNV Pathogenic 6835 rs104894676 GRCh37: 19:39998096-39998096
GRCh38: 19:39507456-39507456
7 PLEKHG2 , DLL3 NM_203486.3(DLL3):c.594_598GCGGT[3] (p.Pro202fs) Microsatellite Pathogenic 6828 rs786200899 GRCh37: 19:39993644-39993648
GRCh38: 19:39502998-39502999
8 DLL3 NM_203486.3(DLL3):c.618del (p.Cys207fs) Deletion Pathogenic 6832 rs786200902 GRCh37: 19:39993660-39993660
GRCh38: 19:39503020-39503020
9 DLL3 NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) SNV Pathogenic 191104 rs786205519 GRCh37: 19:39997721-39997721
GRCh38: 19:39507081-39507081
10 DLL3 NM_203486.3(DLL3):c.472_479dup (p.Asp161fs) Duplication Pathogenic 1031978 GRCh37: 19:39993510-39993511
GRCh38: 19:39502870-39502871
11 DLL3 NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) SNV Likely pathogenic 559885 rs1447189148 GRCh37: 19:39993579-39993579
GRCh38: 19:39502939-39502939
12 DLL3 NM_203486.3(DLL3):c.352-15C>T SNV Conflicting interpretations of pathogenicity 811612 rs201902809 GRCh37: 19:39991240-39991240
GRCh38: 19:39500600-39500600
13 DLL3 NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) SNV Conflicting interpretations of pathogenicity 286841 rs145191532 GRCh37: 19:39994735-39994735
GRCh38: 19:39504095-39504095
14 DLL3 NM_203486.3(DLL3):c.1759-31C>G SNV Uncertain significance 892623 GRCh37: 19:39998861-39998861
GRCh38: 19:39508221-39508221
15 DLL3 NM_203486.3(DLL3):c.409+6T>C SNV Uncertain significance 994083 GRCh37: 19:39991318-39991318
GRCh38: 19:39500678-39500678
16 MESP2 NM_001039958.2(MESP2):c.*132_*134dup Duplication Uncertain significance 317398 rs3840032 GRCh37: 15:90321695-90321696
GRCh38: 15:89778464-89778465
17 DLL3 NM_203486.3(DLL3):c.1187C>T (p.Ala396Val) SNV Uncertain significance 811836 rs747708804 GRCh37: 19:39997772-39997772
GRCh38: 19:39507132-39507132
18 DLL3 NM_203486.3(DLL3):c.969C>T (p.Asn323=) SNV Uncertain significance 892563 GRCh37: 19:39995967-39995967
GRCh38: 19:39505327-39505327
19 DLL3 NM_203486.3(DLL3):c.984C>T (p.Val328=) SNV Uncertain significance 892564 GRCh37: 19:39995982-39995982
GRCh38: 19:39505342-39505342
20 DLL3 NM_203486.3(DLL3):c.1362T>C (p.Ala454=) SNV Uncertain significance 892589 GRCh37: 19:39997947-39997947
GRCh38: 19:39507307-39507307
21 DLL3 NM_203486.3(DLL3):c.1378A>G (p.Met460Val) SNV Uncertain significance 892590 GRCh37: 19:39997963-39997963
GRCh38: 19:39507323-39507323
22 DLL3 NM_203486.3(DLL3):c.1091A>G (p.Asn364Ser) SNV Uncertain significance 497714 rs142597040 GRCh37: 19:39996089-39996089
GRCh38: 19:39505449-39505449
23 DLL3 NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) SNV Uncertain significance 449192 rs139297205 GRCh37: 19:39994863-39994863
GRCh38: 19:39504223-39504223
24 DLL3 NM_203486.3(DLL3):c.1758+57C>T SNV Uncertain significance 515510 rs147582946 GRCh37: 19:39998611-39998611
GRCh38: 19:39507971-39507971
25 DLL3 NM_203486.3(DLL3):c.-12dup Duplication Uncertain significance 329230 rs747003629 GRCh37: 19:39989596-39989597
GRCh38: 19:39498956-39498957
26 DLL3 NM_203486.3(DLL3):c.982G>T (p.Val328Phe) SNV Uncertain significance 499140 rs749513254 GRCh37: 19:39995980-39995980
GRCh38: 19:39505340-39505340
27 DLL3 NM_203486.3(DLL3):c.221A>C (p.Glu74Ala) SNV Uncertain significance 811272 rs1600751637 GRCh37: 19:39989983-39989983
GRCh38: 19:39499343-39499343
28 DLL3 NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu) SNV Uncertain significance 811484 rs777442783 GRCh37: 19:39997983-39997983
GRCh38: 19:39507343-39507343
29 DLL3 NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr) SNV Uncertain significance 329233 rs886054432 GRCh37: 19:39993665-39993665
GRCh38: 19:39503025-39503025
30 DLL3 NM_203486.3(DLL3):c.452G>A (p.Arg151His) SNV Uncertain significance 329231 rs768310008 GRCh37: 19:39993497-39993497
GRCh38: 19:39502857-39502857
31 DLL3 NM_203486.3(DLL3):c.1066C>T (p.Arg356Trp) SNV Uncertain significance 289692 rs146274789 GRCh37: 19:39996064-39996064
GRCh38: 19:39505424-39505424
32 DLL3 NM_203486.3(DLL3):c.779C>A (p.Pro260His) SNV Uncertain significance 329234 rs748649010 GRCh37: 19:39994837-39994837
GRCh38: 19:39504197-39504197
33 DLL3 NM_203486.3(DLL3):c.939G>A (p.Gly313=) SNV Uncertain significance 329235 rs150100958 GRCh37: 19:39995937-39995937
GRCh38: 19:39505297-39505297
34 DLL3 NM_203486.3(DLL3):c.1759-162A>G SNV Uncertain significance 329241 rs886054434 GRCh37: 19:39998730-39998730
GRCh38: 19:39508090-39508090
35 DLL3 NM_203486.3(DLL3):c.1030G>C (p.Gly344Arg) SNV Uncertain significance 329236 rs530857183 GRCh37: 19:39996028-39996028
GRCh38: 19:39505388-39505388
36 DLL3 NM_203486.3(DLL3):c.1383A>C (p.Gly461=) SNV Uncertain significance 329239 rs886054433 GRCh37: 19:39997968-39997968
GRCh38: 19:39507328-39507328
37 DLL3 NM_203486.3(DLL3):c.1758+20C>G SNV Uncertain significance 329240 rs778339882 GRCh37: 19:39998574-39998574
GRCh38: 19:39507934-39507934
38 DLL3 NM_203486.3(DLL3):c.1759-53A>G SNV Uncertain significance 329242 rs762786941 GRCh37: 19:39998839-39998839
GRCh38: 19:39508199-39508199
39 DLL3 NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) SNV Uncertain significance 893094 GRCh37: 19:39989862-39989862
GRCh38: 19:39499222-39499222
40 DLL3 NM_203486.3(DLL3):c.153C>T (p.Ser51=) SNV Uncertain significance 260775 rs373980582 GRCh37: 19:39989915-39989915
GRCh38: 19:39499275-39499275
41 DLL3 NM_203486.3(DLL3):c.615C>T (p.Arg205=) SNV Uncertain significance 893125 GRCh37: 19:39993660-39993660
GRCh38: 19:39503020-39503020
42 DLL3 NM_203486.3(DLL3):c.343G>A (p.Ala115Thr) SNV Uncertain significance 893300 GRCh37: 19:39990105-39990105
GRCh38: 19:39499465-39499465
43 DLL3 NM_203486.3(DLL3):c.367A>G (p.Ile123Val) SNV Uncertain significance 893301 GRCh37: 19:39991270-39991270
GRCh38: 19:39500630-39500630
44 DLL3 NM_203486.3(DLL3):c.652+15C>T SNV Uncertain significance 893342 GRCh37: 19:39993712-39993712
GRCh38: 19:39503072-39503072
45 DLL3 NM_203486.3(DLL3):c.654G>A (p.Leu218=) SNV Uncertain significance 893343 GRCh37: 19:39994712-39994712
GRCh38: 19:39504072-39504072
46 DLL3 NM_203486.3(DLL3):c.1101C>T (p.Leu367=) SNV Uncertain significance 893379 GRCh37: 19:39997686-39997686
GRCh38: 19:39507046-39507046
47 DLL3 NM_203486.3(DLL3):c.1441C>G (p.Pro481Ala) SNV Uncertain significance 893400 GRCh37: 19:39998026-39998026
GRCh38: 19:39507386-39507386
48 DLL3 NM_203486.3(DLL3):c.1455C>T (p.Pro485=) SNV Uncertain significance 893401 GRCh37: 19:39998040-39998040
GRCh38: 19:39507400-39507400
49 DLL3 NM_203486.3(DLL3):c.1474C>G (p.Leu492Val) SNV Uncertain significance 893402 GRCh37: 19:39998059-39998059
GRCh38: 19:39507419-39507419
50 DLL3 NM_203486.3(DLL3):c.478C>T (p.Arg160Trp) SNV Uncertain significance 894146 GRCh37: 19:39993523-39993523
GRCh38: 19:39502883-39502883

UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 1, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 DLL3 p.Gly385Asp VAR_009952 rs104894674

Expression for Spondylocostal Dysostosis 1, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 1, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 1, Autosomal Recessive

Pathways related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.73 LFNG HES7
2 9.84 MESP2 LFNG HES7

GO Terms for Spondylocostal Dysostosis 1, Autosomal Recessive

Biological processes related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.43 PAX1 HES7 DLL3
2 multicellular organism development GO:0007275 9.35 PAX1 MESP2 LFNG HES7 DLL3
3 Notch signaling pathway GO:0007219 9.33 MESP2 HES7 DLL3
4 pattern specification process GO:0007389 9.32 PAX1 LFNG
5 somitogenesis GO:0001756 8.92 PAX1 LFNG HES7 DLL3

Molecular functions related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.8 PAX1 MESP2 HES7

Sources for Spondylocostal Dysostosis 1, Autosomal Recessive

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
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