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Stimmler syndrome

MedGen UID:
348505
•Concept ID:
C1859965
•
Congenital Abnormality; Disease or Syndrome
Synonym: Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
SNOMED CT: Stimmler syndrome (733072002); Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (733072002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008743
OMIM®: 202900
Orphanet: ORPHA3199

Definition

Syndrome with the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. [from SNOMEDCT_US]

Clinical features

From HPO
Alaninuria
MedGen UID:
1696785
•Concept ID:
C5139067
•
Finding
An increased level of alanine in the urine.
See: Feature record | Search on this feature
Severe short stature
MedGen UID:
3931
•Concept ID:
C0013336
•
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Lactic acidosis
MedGen UID:
1717
•Concept ID:
C0001125
•
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
See: Feature record | Search on this feature
Diabetes mellitus
MedGen UID:
8350
•Concept ID:
C0011849
•
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
See: Feature record | Search on this feature
Enamel hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVStimmler syndrome
Follow this link to review classifications for Stimmler syndrome in Orphanet.

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PubMed (OMIM)
      Related literature resources in PubMed

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