SCKL10
MCID: SCK038
MIFTS: 24

Seckel Syndrome 10 (SCKL10)

Categories: Bone diseases, Eye 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 57 12 72 29 6
Sckl10 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
seckel syndrome 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 10

UniProtKB/Swiss-Prot : 72 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 eye, heart and uterus, and related phenotypes are hypertriglyceridemia and hepatic steatosis

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

More information from OMIM: 617253 PS210600

Related Diseases for Seckel Syndrome 10

Symptoms & Phenotypes for Seckel Syndrome 10

Human phenotypes related to Seckel Syndrome 10:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 31 very rare (1%) HP:0002155
2 hepatic steatosis 31 very rare (1%) HP:0001397
3 retinal detachment 31 very rare (1%) HP:0000541
4 microretrognathia 31 very rare (1%) HP:0000308
5 severe short stature 31 very rare (1%) HP:0003510
6 insulin resistance 31 very rare (1%) HP:0000855
7 hyperplasia of midface 31 very rare (1%) HP:0012371
8 diabetes mellitus 31 HP:0000819
9 hypertension 31 HP:0000822
10 microcephaly 31 HP:0000252
11 congestive heart failure 31 HP:0001635
12 glucose intolerance 31 HP:0001952
13 slender long bone 31 HP:0003100
14 acanthosis nigricans 31 HP:0000956
15 cone-shaped epiphysis 31 HP:0010579
16 glycosuria 31 HP:0003076
17 skin tags 31 HP:0010609
18 metaphyseal widening 31 HP:0003016
19 elevated circulating follicle stimulating hormone level 31 HP:0008232
20 elevated circulating luteinizing hormone level 31 HP:0011969
21 elevated hemoglobin a1c 31 HP:0040217
22 ventricular hypertrophy 31 HP:0001714
23 acute pancreatitis 31 HP:0001735
24 impaired glucose tolerance 31 HP:0040270
25 elevated serum alanine aminotransferase 31 HP:0031964
26 elevated serum aspartate aminotransferase 31 HP:0031956
27 abdominal aortic aneurysm 31 HP:0005112

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly

Head And Neck Face:
microretrognathia
prominent midface

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

Skin Nails Hair Skin:
acanthosis nigricans
skin tags

Endocrine Features:
impaired glucose tolerance
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Seckel Syndrome 10

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 10

Genetic Tests for Seckel Syndrome 10

Genetic tests related to Seckel Syndrome 10:

# Genetic test Affiliating Genes
1 Seckel Syndrome 10 29 NSMCE2

Anatomical Context for Seckel Syndrome 10

MalaCards organs/tissues related to Seckel Syndrome 10:

40
Eye, Heart, Uterus, Bone, Liver

Publications for Seckel Syndrome 10

Articles related to Seckel Syndrome 10:

# Title Authors PMID Year
1
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. 57 6
25105364 2014

Variations for Seckel Syndrome 10

ClinVar genetic disease variations for Seckel Syndrome 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NSMCE2 NM_173685.4(NSMCE2):c.346del (p.Ser116fs) Deletion Pathogenic 372285 rs757613817 GRCh37: 8:126194425-126194425
GRCh38: 8:125182183-125182183
2 NSMCE2 NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs) Duplication Pathogenic 372286 rs773917653 GRCh37: 8:126379079-126379080
GRCh38: 8:125366837-125366838
3 NSMCE2 NM_173685.4(NSMCE2):c.419-18C>T SNV Uncertain significance 1033207 GRCh37: 8:126369443-126369443
GRCh38: 8:125357201-125357201

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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