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MCID: ALN003
MIFTS: 18
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Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
Categories:
Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...
MalaCards integrated aliases for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:
Name: Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
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71
Characteristics:Orphanet epidemiological data:58
stimmler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Nephrological diseases
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3199 Definition Stimmler syndrome is characterised by 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. Visit the Orphanet disease page for more resources.
MalaCards based summary : Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus, is also known as stimmler syndrome. Affiliated tissues include testes, and related phenotypes are type ii diabetes mellitus and microcephaly Wikipedia : 74 Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al.... more...
More information from OMIM:
202900
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Human phenotypes related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:58 31 (show all 14)
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MalaCards organs/tissues related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:40
Testes
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Articles related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:
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Search
GEO
for disease gene expression data for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus.
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