MCID: SCK029
MIFTS: 23

Seckel Syndrome 7

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

Aliases & Classifications for Seckel Syndrome 7

MalaCards integrated aliases for Seckel Syndrome 7:

Name: Seckel Syndrome 7 57 12 75 29 13 6 73
Sckl7 57 12 75
Microcephalic Primordial Dwarfism, Dauber Type 59
Seckel Syndrome, Type 7 40

Characteristics:

Orphanet epidemiological data:

59
microcephalic primordial dwarfism, dauber type
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
seckel syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 7

UniProtKB/Swiss-Prot : 75 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, is also known as sckl7, and has symptoms including seizures An important gene associated with Seckel Syndrome 7 is NIN (Ninein). Affiliated tissues include bone, uterus and ovary, and related phenotypes are seizures and hip dysplasia

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

Description from OMIM: 614851

Related Diseases for Seckel Syndrome 7

Symptoms & Phenotypes for Seckel Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Seckel Syndrome 7:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hip dysplasia 32 HP:0001385
3 delayed skeletal maturation 32 HP:0002750
4 microtia 32 HP:0008551
5 microcephaly 32 HP:0000252
6 intellectual disability, severe 32 HP:0010864
7 severe global developmental delay 32 HP:0011344
8 intrauterine growth retardation 32 HP:0001511
9 primary amenorrhea 32 HP:0000786
10 madelung deformity 32 HP:0003067
11 severe short stature 32 HP:0003510
12 hypotelorism 32 HP:0000601
13 prominent nose 32 HP:0000448
14 hypoplasia of the uterus 32 HP:0000013
15 abnormality of the carpal bones 32 occasional (7.5%) HP:0001191
16 central hypothyroidism 32 HP:0011787
17 lumbar scoliosis 32 HP:0004626

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:

41
Bone, Uterus, Ovary

Publications for Seckel Syndrome 7

Variations for Seckel Syndrome 7

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

75
# Symbol AA change Variation ID SNP ID
1 NIN p.Gln1222Arg VAR_069083 rs187464517
2 NIN p.Asn1709Ser VAR_069084 rs387907308

ClinVar genetic disease variations for Seckel Syndrome 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NIN NM_020921.3(NIN): c.3665A> G (p.Gln1222Arg) single nucleotide variant Pathogenic rs187464517 GRCh37 Chromosome 14, 51224083: 51224083
2 NIN NM_020921.3(NIN): c.3665A> G (p.Gln1222Arg) single nucleotide variant Pathogenic rs187464517 GRCh38 Chromosome 14, 50757365: 50757365
3 NIN NM_020921.3(NIN): c.5126A> G (p.Asn1709Ser) single nucleotide variant Pathogenic rs387907308 GRCh37 Chromosome 14, 51211022: 51211022
4 NIN NM_020921.3(NIN): c.5126A> G (p.Asn1709Ser) single nucleotide variant Pathogenic rs387907308 GRCh38 Chromosome 14, 50744304: 50744304
5 NIN NM_020921.3(NIN): c.2482delA (p.Arg828Glyfs) deletion Pathogenic rs747680111 GRCh38 Chromosome 14, 50758548: 50758548
6 NIN NM_020921.3(NIN): c.2482delA (p.Arg828Glyfs) deletion Pathogenic rs747680111 GRCh37 Chromosome 14, 51225266: 51225266

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

Sources for Seckel Syndrome 7

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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