SCKL4
MCID: SCK010
MIFTS: 31

Seckel Syndrome 4 (SCKL4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Seckel Syndrome 4

MalaCards integrated aliases for Seckel Syndrome 4:

Name: Seckel Syndrome 4 58 12 76 30 13 6 15 74
Sckl4 58 12 76
Seckel Syndrome, Type 4 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
seckel syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 4

OMIM : 58 Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002). For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see 210600. (613676)

MalaCards based summary : Seckel Syndrome 4, also known as sckl4, is related to microcephaly 3, primary, autosomal recessive and microcephaly 6, primary, autosomal recessive. An important gene associated with Seckel Syndrome 4 is CENPJ (Centromere Protein J). Affiliated tissues include bone, and related phenotypes are cognitive impairment and low-set ears

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the CENPJ gene on chromosome 13q12.

UniProtKB/Swiss-Prot : 76 Seckel syndrome 4: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

Related Diseases for Seckel Syndrome 4

Graphical network of the top 20 diseases related to Seckel Syndrome 4:



Diseases related to Seckel Syndrome 4

Symptoms & Phenotypes for Seckel Syndrome 4

Human phenotypes related to Seckel Syndrome 4:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cognitive impairment 33 occasional (7.5%) HP:0100543
2 low-set ears 33 HP:0000369
3 microcephaly 33 HP:0000252
4 short stature 33 HP:0004322
5 retrognathia 33 HP:0000278
6 intrauterine growth retardation 33 HP:0001511
7 underdeveloped nasal alae 33 HP:0000430
8 high forehead 33 HP:0000348
9 decreased body weight 33 HP:0004325
10 11 pairs of ribs 33 HP:0000878
11 steep acetabular roof 33 HP:0010455

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Skeletal Pelvis:
steep acetabular roof

Growth Weight:
low weight

Growth Other:
intrauterine growth retardation (iugr)

Head And Neck Head:
microcephaly
high forehead

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Head And Neck Nose:
hypoplastic alae nasi
prominent nasal spine

Head And Neck Mouth:
receding chin

Neurologic Central Nervous System:
intellectual impairment (rare)

Clinical features from OMIM:

613676

GenomeRNAi Phenotypes related to Seckel Syndrome 4 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 8.62 PCNT RNF17

Drugs & Therapeutics for Seckel Syndrome 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817

Search NIH Clinical Center for Seckel Syndrome 4

Genetic Tests for Seckel Syndrome 4

Genetic tests related to Seckel Syndrome 4:

# Genetic test Affiliating Genes
1 Seckel Syndrome 4 30 CENPJ

Anatomical Context for Seckel Syndrome 4

MalaCards organs/tissues related to Seckel Syndrome 4:

42
Bone

Publications for Seckel Syndrome 4

Articles related to Seckel Syndrome 4:

# Title Authors Year
1
Novel CENPJ mutation causes Seckel syndrome. ( 20522431 )
2010

Variations for Seckel Syndrome 4

ClinVar genetic disease variations for Seckel Syndrome 4:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 CENPJ NM_018451.4(CENPJ): c.3302-1G> C single nucleotide variant Pathogenic rs864321658 GRCh37 Chromosome 13, 25459809: 25459809
2 CENPJ NM_018451.4(CENPJ): c.3302-1G> C single nucleotide variant Pathogenic rs864321658 GRCh38 Chromosome 13, 24885671: 24885671
3 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh37 Chromosome 13, 25457412: 25457412
4 CENPJ NM_018451.4(CENPJ): c.3920C> T (p.Thr1307Ile) single nucleotide variant Uncertain significance rs144251950 GRCh38 Chromosome 13, 24883274: 24883274
5 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202058504 GRCh37 Chromosome 13, 25480590: 25480590
6 CENPJ NM_018451.4(CENPJ): c.1586C> G (p.Ser529Ter) single nucleotide variant Pathogenic/Likely pathogenic rs202058504 GRCh38 Chromosome 13, 24906452: 24906452
7 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh37 Chromosome 13, 25480663: 25480663
8 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh38 Chromosome 13, 24906525: 24906525
9 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh37 Chromosome 13, 25484193: 25484193
10 CENPJ NM_018451.4(CENPJ): c.600G> T (p.Gln200His) single nucleotide variant Uncertain significance rs200061825 GRCh38 Chromosome 13, 24910055: 24910055
11 CENPJ NM_018451.4(CENPJ): c.444+3A> G single nucleotide variant Uncertain significance rs587783411 GRCh37 Chromosome 13, 25486717: 25486717
12 CENPJ NM_018451.4(CENPJ): c.444+3A> G single nucleotide variant Uncertain significance rs587783411 GRCh38 Chromosome 13, 24912579: 24912579
13 CENPJ NM_018451.4(CENPJ): c.3495_3497dupGAA (p.Lys1165_Asn1166insLys) duplication Likely pathogenic rs776528706 GRCh37 Chromosome 13, 25458582: 25458584
14 CENPJ NM_018451.4(CENPJ): c.3495_3497dupGAA (p.Lys1165_Asn1166insLys) duplication Likely pathogenic rs776528706 GRCh38 Chromosome 13, 24884444: 24884446
15 CENPJ NM_018451.4(CENPJ): c.3007dupA (p.Ile1003Asnfs) duplication Pathogenic rs797045452 GRCh37 Chromosome 13, 25466990: 25466990
16 CENPJ NM_018451.4(CENPJ): c.3007dupA (p.Ile1003Asnfs) duplication Pathogenic rs797045452 GRCh38 Chromosome 13, 24892852: 24892852
17 CENPJ NM_018451.4(CENPJ): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs797045450 GRCh37 Chromosome 13, 25480207: 25480207
18 CENPJ NM_018451.4(CENPJ): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs797045450 GRCh38 Chromosome 13, 24906069: 24906069
19 CENPJ NM_018451.4(CENPJ): c.1882delG (p.Ala628Glnfs) deletion Pathogenic rs797045449 GRCh38 Chromosome 13, 24906156: 24906156
20 CENPJ NM_018451.4(CENPJ): c.1882delG (p.Ala628Glnfs) deletion Pathogenic rs797045449 GRCh37 Chromosome 13, 25480294: 25480294
21 CENPJ NM_018451.4(CENPJ): c.1850_1851delCT (p.Pro617Argfs) deletion Pathogenic rs797045448 GRCh38 Chromosome 13, 24906187: 24906188
22 CENPJ NM_018451.4(CENPJ): c.1850_1851delCT (p.Pro617Argfs) deletion Pathogenic rs797045448 GRCh37 Chromosome 13, 25480325: 25480326
23 CENPJ NM_018451.4(CENPJ): c.1404_1407delTTCT (p.Ser469Argfs) deletion Pathogenic rs777893196 GRCh38 Chromosome 13, 24906631: 24906634
24 CENPJ NM_018451.4(CENPJ): c.1404_1407delTTCT (p.Ser469Argfs) deletion Pathogenic rs777893196 GRCh37 Chromosome 13, 25480769: 25480772
25 CENPJ NM_018451.4(CENPJ): c.1339A> T (p.Lys447Ter) single nucleotide variant Pathogenic rs797045447 GRCh38 Chromosome 13, 24906699: 24906699
26 CENPJ NM_018451.4(CENPJ): c.1339A> T (p.Lys447Ter) single nucleotide variant Pathogenic rs797045447 GRCh37 Chromosome 13, 25480837: 25480837
27 CENPJ NM_018451.4(CENPJ): c.1263G> C (p.Gln421His) single nucleotide variant Likely pathogenic rs201088712 GRCh38 Chromosome 13, 24906775: 24906775
28 CENPJ NM_018451.4(CENPJ): c.1263G> C (p.Gln421His) single nucleotide variant Likely pathogenic rs201088712 GRCh37 Chromosome 13, 25480913: 25480913
29 CENPJ NM_018451.4(CENPJ): c.897_898delAG (p.Glu300Thrfs) deletion Pathogenic rs797045454 GRCh37 Chromosome 13, 25482232: 25482233
30 CENPJ NM_018451.4(CENPJ): c.897_898delAG (p.Glu300Thrfs) deletion Pathogenic rs797045454 GRCh38 Chromosome 13, 24908094: 24908095
31 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh38 Chromosome 13, 24885387: 24885387
32 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh37 Chromosome 13, 25459525: 25459525
33 CENPJ NM_018451.3(CENPJ): c.2872C> T (p.Arg958Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749343808 GRCh37 Chromosome 13, 25473676: 25473676
34 CENPJ NM_018451.3(CENPJ): c.2872C> T (p.Arg958Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749343808 GRCh38 Chromosome 13, 24899538: 24899538
35 CENPJ NM_018451.4(CENPJ): c.2432T> A (p.Val811Asp) single nucleotide variant Uncertain significance rs151299406 GRCh37 Chromosome 13, 25479744: 25479744
36 CENPJ NM_018451.4(CENPJ): c.2432T> A (p.Val811Asp) single nucleotide variant Uncertain significance rs151299406 GRCh38 Chromosome 13, 24905606: 24905606

Expression for Seckel Syndrome 4

Search GEO for disease gene expression data for Seckel Syndrome 4.

Pathways for Seckel Syndrome 4

GO Terms for Seckel Syndrome 4

Cellular components related to Seckel Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.33 CENPJ CNTLN PCNT
2 microtubule GO:0005874 9.26 CENPJ PCNT
3 centrosome GO:0005813 9.13 CENPJ CNTLN PCNT
4 centriole GO:0005814 8.8 CENPJ CNTLN PCNT

Biological processes related to Seckel Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.16 CENPJ PCNT
2 ciliary basal body-plasma membrane docking GO:0097711 8.96 CENPJ PCNT
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.62 CENPJ PCNT

Molecular functions related to Seckel Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 8.62 CENPJ CNTLN

Sources for Seckel Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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