SCKL2
MCID: SCK015
MIFTS: 40

Seckel Syndrome 2 (SCKL2)

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

Aliases & Classifications for Seckel Syndrome 2

MalaCards integrated aliases for Seckel Syndrome 2:

Name: Seckel Syndrome 2 58 12 76 30 13 6 15 74
Microcephalic Primordial Dwarfism 2 58 12 76
Seckel-Type Dwarfism 2 58 12 76
Sckl2 58 12 76
Seckel Syndrome, Type 2 41
Bird-Headed Dwarfism 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
seckel syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 2

OMIM : 58 Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (606744)

MalaCards based summary : Seckel Syndrome 2, also known as microcephalic primordial dwarfism 2, is related to seckel syndrome and dwarfism. An important gene associated with Seckel Syndrome 2 is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of TP53 Activity. Affiliated tissues include kidney, bone and cerebellum, and related phenotypes are ectopic kidney and high pitched voice

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the RBBP8 gene on chromosome 18q11.

UniProtKB/Swiss-Prot : 76 Seckel syndrome 2: 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 2

Graphical network of the top 20 diseases related to Seckel Syndrome 2:



Diseases related to Seckel Syndrome 2

Symptoms & Phenotypes for Seckel Syndrome 2

Human phenotypes related to Seckel Syndrome 2:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 ectopic kidney 33 occasional (7.5%) HP:0000086
2 high pitched voice 33 very rare (1%) HP:0001620
3 microcephaly 33 HP:0000252
4 micrognathia 33 HP:0000347
5 microdontia 33 HP:0000691
6 growth delay 33 HP:0001510
7 cerebellar hypoplasia 33 HP:0001321
8 microphthalmia 33 HP:0000568
9 hypospadias 33 HP:0000047
10 clinodactyly of the 5th finger 33 HP:0004209
11 mild global developmental delay 33 HP:0011342
12 prominent nose 33 HP:0000448
13 small for gestational age 33 HP:0001518
14 microglossia 33 HP:0000171
15 heart murmur 33 HP:0030148
16 narrow forehead 33 HP:0000341
17 few cafe-au-lait spots 33 HP:0007429

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly
micrognathia

Head And Neck Eyes:
microphthalmia

Head And Neck Nose:
prominent nose

Cardiovascular Heart:
heart murmur

Voice:
high-pitched voice

Skin Nails Hair Skin:
cafe au lait spots

Growth Height:
proportionate short stature at birth

Genitourinary External Genitalia Male:
mild hypospadias

Skeletal Hands:
swelling over proximal part of middle phalanx of second, third, and fourth fingers
clinodactyly of fifth finger
absence of epiphyseal ossification centers of distal and middle phalangeal bones of fifth finger
synostosis of distal interphalangeal joint of fifth finger

Skeletal Skull:
microcephaly
short anterior cranial base
short maxillary length

Neurologic Central Nervous System:
mild global developmental delay
mild cerebellar hypoplasia
bilateral calcification of basal ganglia and cerebellum

Head And Neck Mouth:
microglossia

Head And Neck Teeth:
small teeth

Growth Weight:
low birth weight
underweight

Skeletal Limbs:
slender extremities

Growth Other:
persistent growth deficiency

Genitourinary Kidneys:
ectopic kidneys (rare)

Clinical features from OMIM:

606744

GenomeRNAi Phenotypes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.8 ATR MNAT1 RBBP8

MGI Mouse Phenotypes related to Seckel Syndrome 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.35 ATR CENPJ CEP152 MNAT1 RBBP8
2 nervous system MP:0003631 9.02 ATR CENPJ CEP152 MNAT1 NRXN1

Drugs & Therapeutics for Seckel Syndrome 2

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 2

Genetic Tests for Seckel Syndrome 2

Genetic tests related to Seckel Syndrome 2:

# Genetic test Affiliating Genes
1 Seckel Syndrome 2 30 RBBP8

Anatomical Context for Seckel Syndrome 2

MalaCards organs/tissues related to Seckel Syndrome 2:

42
Kidney, Bone, Cerebellum

Publications for Seckel Syndrome 2

Articles related to Seckel Syndrome 2:

# Title Authors Year
1
Seckel's syndrome or bird-headed dwarfism (2 cases reports). ( 751929 )
1978

Variations for Seckel Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 RBBP8 p.Arg100Trp VAR_075824 rs373804633

ClinVar genetic disease variations for Seckel Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBBP8 NM_002894.2(RBBP8): c.2287+53T> G single nucleotide variant Pathogenic rs587776883 GRCh38 Chromosome 18, 23001782: 23001782
2 RBBP8 NM_002894.2(RBBP8): c.2287+53T> G single nucleotide variant Pathogenic rs587776883 GRCh37 Chromosome 18, 20581745: 20581745
3 RBBP8 NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp) single nucleotide variant Pathogenic rs373804633 GRCh38 Chromosome 18, 22968855: 22968855
4 RBBP8 NM_002894.2(RBBP8): c.298C> T (p.Arg100Trp) single nucleotide variant Pathogenic rs373804633 GRCh37 Chromosome 18, 20548818: 20548818
5 RBBP8 NM_002894.2(RBBP8): c.604+1G> T single nucleotide variant Pathogenic rs587780432 GRCh38 Chromosome 18, 22982394: 22982394
6 RBBP8 NM_002894.2(RBBP8): c.604+1G> T single nucleotide variant Pathogenic rs587780432 GRCh37 Chromosome 18, 20562357: 20562357

Expression for Seckel Syndrome 2

Search GEO for disease gene expression data for Seckel Syndrome 2.

Pathways for Seckel Syndrome 2

GO Terms for Seckel Syndrome 2

Cellular components related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 ATR CENPJ CEP152 MNAT1 RBBP8
2 centriole GO:0005814 8.96 CENPJ CEP152

Biological processes related to Seckel Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.43 CENPJ CEP152
2 DNA repair GO:0006281 9.43 ATR MNAT1 RBBP8
3 ciliary basal body-plasma membrane docking GO:0097711 9.4 CENPJ CEP152
4 G1/S transition of mitotic cell cycle GO:0000082 9.37 MNAT1 RBBP8
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.32 CENPJ CEP152
6 nucleotide-excision repair GO:0006289 9.16 MNAT1 RBBP8
7 centriole replication GO:0007099 8.96 CENPJ CEP152
8 centrosome duplication GO:0051298 8.62 CENPJ CEP152

Sources for Seckel Syndrome 2

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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