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]

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GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVStimmler syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Stimmler syndrome

Follow this link to review classifications for Stimmler syndrome in Orphanet.

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Stimmler syndrome

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