SCKL7
MCID: SCK029
MIFTS: 36

Seckel Syndrome 7 (SCKL7)

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

Aliases & Classifications for Seckel Syndrome 7

MalaCards integrated aliases for Seckel Syndrome 7:

Name: Seckel Syndrome 7 56 12 73 29 13 6 15 71
Sckl7 56 12 73
Microcephalic Primordial Dwarfism, Dauber Type 58
Seckel Syndrome, Type 7 39

Characteristics:

Orphanet epidemiological data:

58
microcephalic primordial dwarfism, dauber type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters (last curated october 2012)


HPO:

31
seckel syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Seckel Syndrome 7

UniProtKB/Swiss-Prot : 73 Seckel syndrome 7: 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.

MalaCards based summary : Seckel Syndrome 7, also known as sckl7, is related to joubert syndrome 4 and joubert syndrome 3, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include bone, breast and uterus, and related phenotypes are global developmental delay and delayed skeletal maturation

Disease Ontology : 12 A Seckel syndrome that has material basis in compound heterozygous mutation in the NIN gene on chromosome 14q22.

More information from OMIM: 614851 PS210600

Related Diseases for Seckel Syndrome 7

Graphical network of the top 20 diseases related to Seckel Syndrome 7:



Diseases related to Seckel Syndrome 7

Symptoms & Phenotypes for Seckel Syndrome 7

Human phenotypes related to Seckel Syndrome 7:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
3 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
4 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
8 primary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000786
9 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
10 madelung deformity 58 31 frequent (33%) Frequent (79-30%) HP:0003067
11 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
12 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
13 severe postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008850
14 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
15 limb undergrowth 58 31 frequent (33%) Frequent (79-30%) HP:0009826
16 severe intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008846
17 subglottic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001607
18 abnormality of the carpal bones 58 31 occasional (7.5%) Frequent (79-30%) HP:0001191
19 short middle phalanx of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004220
20 bilateral breast hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012814
21 lumbar scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0004626
22 seizure 31 frequent (33%) HP:0001250
23 seizures 58 Frequent (79-30%)
24 intrauterine growth retardation 31 HP:0001511
25 severe global developmental delay 31 HP:0011344
26 severe short stature 31 HP:0003510
27 hypoplasia of the uterus 31 HP:0000013
28 clinodactyly 31 HP:0030084
29 central hypothyroidism 31 HP:0011787

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
mental retardation, severe
developmental delay, significant

Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries
small uterus (prepubertal size)

Head And Neck Eyes:
hypotelorism

Head And Neck Ears:
small ears

Head And Neck Head:
microcephaly, severe

Skeletal Hands:
clinodactyly, fifth finger
short fifth middle phalanx (in some patients)
abnormal carpal bones (in some patients)

Chest Breasts:
prepubertal breast development

Skeletal Spine:
lumbar scoliosis, mild

Growth Other:
intrauterine growth retardation

Endocrine Features:
primary amenorrhea
normal luteinizing hormone (lh)
normal follicle-stimulating hormone (fsh)
modestly low estradiol
central hypothyroidism, borderline
more
Head And Neck Nose:
prominent nose

Growth Height:
short stature, severe

Skeletal Skull:
microcephaly, severe

Skeletal Pelvis:
hip dysplasia, bilateral

Skeletal:
delayed bone age (2 to 3 years) during childhood

Skeletal Limbs:
foreshortened ulna (madelung deformity)

Clinical features from OMIM:

614851

UMLS symptoms related to Seckel Syndrome 7:


seizures

Drugs & Therapeutics for Seckel Syndrome 7

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 7

Genetic Tests for Seckel Syndrome 7

Genetic tests related to Seckel Syndrome 7:

# Genetic test Affiliating Genes
1 Seckel Syndrome 7 29 NIN

Anatomical Context for Seckel Syndrome 7

MalaCards organs/tissues related to Seckel Syndrome 7:

40
Bone, Breast, Uterus, Ovary

Publications for Seckel Syndrome 7

Articles related to Seckel Syndrome 7:

# Title Authors PMID Year
1
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. 56 6
22933543 2012
2
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301772 2009

Variations for Seckel Syndrome 7

ClinVar genetic disease variations for Seckel Syndrome 7:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NIN NM_016350.4(NIN):c.2987A>G (p.Asn996Ser)SNV Pathogenic 37291 rs387907308 14:51211022-51211022 14:50744304-50744304
2 NIN NM_020921.3(NIN):c.2482del (p.Arg828fs)deletion Pathogenic 211602 rs747680111 14:51225266-51225266 14:50758548-50758548
3 NIN NM_016350.4(NIN):c.3976C>T (p.Arg1326Ter)SNV Likely pathogenic 804469 14:51192748-51192748 14:50726030-50726030
4 NIN NM_020921.3(NIN):c.3665A>G (p.Gln1222Arg)SNV Likely benign 37290 rs187464517 14:51224083-51224083 14:50757365-50757365
5 NIN NM_020921.3(NIN):c.5800C>G (p.Gln1934Glu)SNV Benign 129798 rs2295847 14:51202311-51202311 14:50735593-50735593
6 NIN NM_016350.4(NIN):c.2400-2204G>ASNV Benign 194884 rs2073347 14:51223789-51223789 14:50757071-50757071
7 NIN NM_016350.4(NIN):c.2399+2201A>CSNV Benign 281107 rs12882191 14:51224374-51224374 14:50757656-50757656

UniProtKB/Swiss-Prot genetic disease variations for Seckel Syndrome 7:

73
# Symbol AA change Variation ID SNP ID
1 NIN p.Gln1222Arg VAR_069083 rs187464517
2 NIN p.Asn1709Ser VAR_069084 rs387907308

Expression for Seckel Syndrome 7

Search GEO for disease gene expression data for Seckel Syndrome 7.

Pathways for Seckel Syndrome 7

GO Terms for Seckel Syndrome 7

Cellular components related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.1 POC1B NIN NEDD1 KIF24 CEP350 CEP19
2 cell projection GO:0042995 9.81 POC1B CEP350 CEP19 CCDC120
3 centrosome GO:0005813 9.8 POC1B NIN NEDD1 CEP350 CEP19 CEP162
4 microtubule organizing center GO:0005815 9.77 POC1B NIN NEDD1 CEP350 CEP128
5 microtubule GO:0005874 9.65 NIN KIF24 CEP162
6 spindle pole GO:0000922 9.65 POC1B NIN NEDD1 CEP19 CEP128
7 cytoskeleton GO:0005856 9.65 POC1B NIN NEDD1 KIF24 CEP350 CEP19
8 ciliary basal body GO:0036064 9.61 POC1B NEDD1 CEP19
9 apical part of cell GO:0045177 9.49 NIN NEDD1
10 pericentriolar material GO:0000242 9.46 NIN NEDD1
11 centriolar subdistal appendage GO:0120103 9.46 NIN CEP128 CCDC68 CCDC120
12 centriole GO:0005814 9.32 POC1B NIN NEDD1 KIF24 CEP350 CEP19

Biological processes related to Seckel Syndrome 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.56 POC1B KIF24 CEP19 CEP162
2 ciliary basal body-plasma membrane docking GO:0097711 9.5 NEDD1 KIF24 CEP162
3 cell projection organization GO:0030030 9.46 POC1B KIF24 CEP19 CEP162
4 protein localization GO:0008104 9.26 NIN CEP128 CCDC68 CCDC120
5 microtubule anchoring at centrosome GO:0034454 8.92 NIN CEP19 CCDC68 CCDC120

Sources for Seckel Syndrome 7

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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