MCID: SCK038
MIFTS: 22

Seckel Syndrome 10

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

Aliases & Classifications for Seckel Syndrome 10

MalaCards integrated aliases for Seckel Syndrome 10:

Name: Seckel Syndrome 10 57 12 75 6
Sckl10 57 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated patients (last curated december 2016)


HPO:

32
seckel syndrome 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 10

UniProtKB/Swiss-Prot : 75 Seckel syndrome 10: A form of Seckel syndrome, 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 10, is also known as sckl10. An important gene associated with Seckel Syndrome 10 is NSMCE2 (NSE2 (MMS21) Homolog, SMC5-SMC6 Complex SUMO Ligase). Affiliated tissues include bone, heart and uterus, and related phenotypes are microcephaly and microretrognathia

Disease Ontology : 12 A Seckel syndrome that has material basis in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24.

Description from OMIM: 617253

Related Diseases for Seckel Syndrome 10

Symptoms & Phenotypes for Seckel Syndrome 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
acanthosis nigricans
skin tags

Laboratory Abnormalities:
glycosuria
elevated fasting blood glucose
elevated hba1c
markedly elevated fasting plasma insulin
elevated fasting serum triglycerides
more
Abdomen Liver:
fatty liver

Growth Height:
short stature, extreme

Head And Neck Eyes:
retinal detachment, bilateral congenital (patient a)

Cardiovascular Heart:
ventricular hypertrophy (patient a)
heart failure (patient a)

Abdomen External Features:
subcutaneous fat accumulation (patient a)

Skeletal Limbs:
gracile long bones (patient a)
widened metaphyses (patient a)
cone-shaped epiphyses (patient a)

Neurologic Central Nervous System:
global learning difficulties, mild

Skeletal Skull:
microcephaly

Head And Neck Face:
microretrognathia
prominent midface

Endocrine Features:
impaired glucose tolerance
elevated follicle-stimulating hormone (fsh)
elevated luteinizing hormone (lh)
diabetes mellitus, poorly controlled
primary gonadal failure
more
Genitourinary Internal Genitalia Female:
prepubertal uterus
prepubertal or undetectable ovaries

Growth Weight:
low weight, extreme

Head And Neck Teeth:
small secondary teeth (patient b)

Cardiovascular Vascular:
hypertension (patient a)
abdominal aortic aneurysm (patient a)

Abdomen Pancreas:
acute pancreatitis (patient a)
pancreatic exocrine insufficiency (patient a)

Muscle Soft Tissue:
accumulation of subcutaneous adipose tissue in limbs and abdomen (patient a)

Metabolic Features:
extreme insulin resistance


Clinical features from OMIM:

617253

Human phenotypes related to Seckel Syndrome 10:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 microretrognathia 32 HP:0000308
3 retinal detachment 32 HP:0000541
4 hypertension 32 HP:0000822
5 glucose intolerance 32 HP:0000833
6 acanthosis nigricans 32 HP:0000956
7 hepatic steatosis 32 HP:0001397
8 congestive heart failure 32 HP:0001635
9 ventricular hypertrophy 32 HP:0001714
10 acute pancreatitis 32 HP:0001735
11 metaphyseal widening 32 HP:0003016
12 glycosuria 32 HP:0003076
13 slender long bone 32 HP:0003100
14 abdominal aortic aneurysm 32 HP:0005112
15 elevated circulating follicle stimulating hormone level 32 HP:0008232
16 cone-shaped epiphysis 32 HP:0010579
17 skin tags 32 HP:0010609
18 elevated circulating luteinizing hormone level 32 HP:0011969

Drugs & Therapeutics for Seckel Syndrome 10

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 10

Genetic Tests for Seckel Syndrome 10

Anatomical Context for Seckel Syndrome 10

MalaCards organs/tissues related to Seckel Syndrome 10:

41
Bone, Heart, Uterus, Ovary, Liver, Skin

Publications for Seckel Syndrome 10

Variations for Seckel Syndrome 10

ClinVar genetic disease variations for Seckel Syndrome 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSMCE2 NM_173685.3(NSMCE2): c.346delT (p.Ser116Leufs) deletion Pathogenic rs1057519088 GRCh37 Chromosome 8, 126194426: 126194426
2 NSMCE2 NM_173685.3(NSMCE2): c.346delT (p.Ser116Leufs) deletion Pathogenic rs1057519088 GRCh38 Chromosome 8, 125182184: 125182184
3 NSMCE2 NM_173685.3(NSMCE2): c.697_700dupAGGG (p.Ala234Glufs) duplication Pathogenic rs1057519089 GRCh38 Chromosome 8, 125366838: 125366841
4 NSMCE2 NM_173685.3(NSMCE2): c.697_700dupAGGG (p.Ala234Glufs) duplication Pathogenic rs1057519089 GRCh37 Chromosome 8, 126379080: 126379083

Expression for Seckel Syndrome 10

Search GEO for disease gene expression data for Seckel Syndrome 10.

Pathways for Seckel Syndrome 10

GO Terms for Seckel Syndrome 10

Sources for Seckel Syndrome 10

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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