Seckel syndrome 10

Preferred Label : Seckel syndrome 10;

Symbol : SCKL10;

CISMeF acronym : SCKL10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of S. cerevisiae non-SMC element-2 gene (NSMCE2, 617246.0001);

Laboratory abnormalities : Markedly elevated fasting plasma insulin; Glycosuria; Lipemic serum; Elevated serum alanine aminotransferase (ALT); Elevated fasting blood glucose; Elevated serum aspartate aminotransferase (AST); Elevated HbA1c; Elevated fasting serum triglycerides; Low serum high density lipoprotein (HDL) cholesterol;

Prefixed ID : #617253;

Details

Origin ID

617253;

UMLS CUI

C4310647;

CISMeF manual mappings
- Seckel syndrome 10 [DO Concept]
DO Cross reference
- Seckel syndrome 10 [DO Concept]
Genes related to phenotype
- Nse2 (mms21) homolog, smc5-smc6 complex sumo ligase [OMIM gene]
HPO term(s)
- Abdominal aortic aneurysm [HPO term]
- Acanthosis nigricans [HPO term]
- Acute pancreatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cone-shaped epiphysis [HPO term]
- Congestive heart failure [HPO term]
- Diabetes mellitus [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Elevated hemoglobin A1c [HPO term]
- Glucose intolerance [HPO term]
- Glycosuria [HPO term]
- Hepatic steatosis [HPO term]
- Hyperplasia of midface [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Impaired glucose tolerance [HPO term]
- Insulin resistance [HPO term]
- Metaphyseal widening [HPO term]
- Microcephaly [HPO term]
- Microretrognathia [HPO term]
- Retinal detachment [HPO term]
- Severe short stature [HPO term]
- Skin tags [HPO term]
- Slender long bone [HPO term]
- Ventricular hypertrophy [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Microcephalic primordial dwarfism-insulin resistance syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Seckel syndrome 10 [DO Concept]

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