SCKL4
MCID: SCK010
MIFTS: 30

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 57 12 75 29 13 6 15 73
Sckl4 57 12 75
Seckel Syndrome, Type 4 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
seckel syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 4

OMIM : 57 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 low-set ears and microcephaly

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

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Seckel Syndrome 4:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 microcephaly 32 HP:0000252
3 short stature 32 HP:0004322
4 cognitive impairment 32 occasional (7.5%) HP:0100543
5 retrognathia 32 HP:0000278
6 intrauterine growth retardation 32 HP:0001511
7 underdeveloped nasal alae 32 HP:0000430
8 high forehead 32 HP:0000348
9 decreased body weight 32 HP:0004325
10 11 pairs of ribs 32 HP:0000878
11 steep acetabular roof 32 HP:0010455

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

26
# 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

Search Clinical Trials , 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 29 CENPJ

Anatomical Context for Seckel Syndrome 4

MalaCards organs/tissues related to Seckel Syndrome 4:

41
Bone

Publications for Seckel Syndrome 4

Variations for Seckel Syndrome 4

ClinVar genetic disease variations for Seckel Syndrome 4:

6 (show all 24)
# 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.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh37 Chromosome 13, 25480663: 25480663
4 CENPJ NM_018451.4(CENPJ): c.1513G> A (p.Glu505Lys) single nucleotide variant Uncertain significance rs145679691 GRCh38 Chromosome 13, 24906525: 24906525
5 CENPJ NM_018451.4(CENPJ): c.3495_3497dupGAA (p.Lys1165_Asn1166insLys) duplication Likely pathogenic rs776528706 GRCh37 Chromosome 13, 25458582: 25458584
6 CENPJ NM_018451.4(CENPJ): c.3495_3497dupGAA (p.Lys1165_Asn1166insLys) duplication Likely pathogenic rs776528706 GRCh38 Chromosome 13, 24884444: 24884446
7 CENPJ NM_018451.4(CENPJ): c.3007dupA (p.Ile1003Asnfs) duplication Pathogenic rs797045452 GRCh37 Chromosome 13, 25466990: 25466990
8 CENPJ NM_018451.4(CENPJ): c.3007dupA (p.Ile1003Asnfs) duplication Pathogenic rs797045452 GRCh38 Chromosome 13, 24892852: 24892852
9 CENPJ NM_018451.4(CENPJ): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs797045450 GRCh37 Chromosome 13, 25480207: 25480207
10 CENPJ NM_018451.4(CENPJ): c.1969C> T (p.Gln657Ter) single nucleotide variant Pathogenic rs797045450 GRCh38 Chromosome 13, 24906069: 24906069
11 CENPJ NM_018451.4(CENPJ): c.1882delG (p.Ala628Glnfs) deletion Pathogenic rs797045449 GRCh38 Chromosome 13, 24906156: 24906156
12 CENPJ NM_018451.4(CENPJ): c.1882delG (p.Ala628Glnfs) deletion Pathogenic rs797045449 GRCh37 Chromosome 13, 25480294: 25480294
13 CENPJ NM_018451.4(CENPJ): c.1850_1851delCT (p.Pro617Argfs) deletion Pathogenic rs797045448 GRCh38 Chromosome 13, 24906187: 24906188
14 CENPJ NM_018451.4(CENPJ): c.1850_1851delCT (p.Pro617Argfs) deletion Pathogenic rs797045448 GRCh37 Chromosome 13, 25480325: 25480326
15 CENPJ NM_018451.4(CENPJ): c.1404_1407delTTCT (p.Ser469Argfs) deletion Pathogenic rs777893196 GRCh38 Chromosome 13, 24906631: 24906634
16 CENPJ NM_018451.4(CENPJ): c.1404_1407delTTCT (p.Ser469Argfs) deletion Pathogenic rs777893196 GRCh37 Chromosome 13, 25480769: 25480772
17 CENPJ NM_018451.4(CENPJ): c.1339A> T (p.Lys447Ter) single nucleotide variant Pathogenic rs797045447 GRCh38 Chromosome 13, 24906699: 24906699
18 CENPJ NM_018451.4(CENPJ): c.1339A> T (p.Lys447Ter) single nucleotide variant Pathogenic rs797045447 GRCh37 Chromosome 13, 25480837: 25480837
19 CENPJ NM_018451.4(CENPJ): c.1263G> C (p.Gln421His) single nucleotide variant Likely pathogenic rs201088712 GRCh38 Chromosome 13, 24906775: 24906775
20 CENPJ NM_018451.4(CENPJ): c.1263G> C (p.Gln421His) single nucleotide variant Likely pathogenic rs201088712 GRCh37 Chromosome 13, 25480913: 25480913
21 CENPJ NM_018451.4(CENPJ): c.897_898delAG (p.Glu300Thrfs) deletion Pathogenic rs797045454 GRCh37 Chromosome 13, 25482232: 25482233
22 CENPJ NM_018451.4(CENPJ): c.897_898delAG (p.Glu300Thrfs) deletion Pathogenic rs797045454 GRCh38 Chromosome 13, 24908094: 24908095
23 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh38 Chromosome 13, 24885387: 24885387
24 CENPJ NM_018451.4(CENPJ): c.3367-1G> A single nucleotide variant Likely pathogenic rs763715733 GRCh37 Chromosome 13, 25459525: 25459525

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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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