SCKL10
MCID: SCK038
MIFTS: 23

Seckel Syndrome 10 (SCKL10)

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

Aliases & Classifications for Seckel Syndrome 10

MalaCards integrated aliases for Seckel Syndrome 10:

Name: Seckel Syndrome 10 58 12 76 6
Sckl10 58 12 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
seckel syndrome 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 10

UniProtKB/Swiss-Prot : 76 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, skin and heart, and related phenotypes are diabetes mellitus and hypertension

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

Human phenotypes related to Seckel Syndrome 10:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 33 HP:0000819
2 hypertension 33 HP:0000822
3 microcephaly 33 HP:0000252
4 acanthosis nigricans 33 HP:0000956
5 cone-shaped epiphysis 33 HP:0010579
6 congestive heart failure 33 HP:0001635
7 glucose intolerance 33 HP:0001952
8 hepatic steatosis 33 HP:0001397
9 retinal detachment 33 HP:0000541
10 microretrognathia 33 HP:0000308
11 elevated circulating follicle stimulating hormone level 33 HP:0008232
12 elevated circulating luteinizing hormone level 33 HP:0011969
13 slender long bone 33 HP:0003100
14 glycosuria 33 HP:0003076
15 skin tags 33 HP:0010609
16 metaphyseal widening 33 HP:0003016
17 ventricular hypertrophy 33 HP:0001714
18 acute pancreatitis 33 HP:0001735
19 abdominal aortic aneurysm 33 HP:0005112
20 elevated serum aspartate aminotransferase 33 HP:0031956
21 elevated serum alanine aminotransferase 33 HP:0031964

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Bone, Skin, Heart, Ovary, Uterus, Liver

Publications for Seckel Syndrome 10

Articles related to Seckel Syndrome 10:

# Title Authors Year
1
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. ( 25105364 )
2014

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.346del (p.Ser116Leufs) deletion Pathogenic rs757613817 GRCh37 Chromosome 8, 126194426: 126194426
2 NSMCE2 NM_173685.3(NSMCE2): c.346del (p.Ser116Leufs) deletion Pathogenic rs757613817 GRCh38 Chromosome 8, 125182184: 125182184
3 NSMCE2 NM_173685.3(NSMCE2): c.697_700dup (p.Ala234Glufs) duplication Pathogenic rs773917653 GRCh38 Chromosome 8, 125366838: 125366841
4 NSMCE2 NM_173685.3(NSMCE2): c.697_700dup (p.Ala234Glufs) duplication Pathogenic rs773917653 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 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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