MCID: ALN003
MIFTS: 18

Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus

Categories: Fetal diseases, Nephrological diseases, Neuronal diseases, Rare diseases

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 56 71
Stimmler Syndrome 56 74 52 58
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia and Diabetes Mellitus 52

Characteristics:

Orphanet epidemiological data:

58
stimmler syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

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

Related Diseases for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Symptoms & Phenotypes for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Human phenotypes related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 type ii diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005978
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 aminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003355
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
7 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
8 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
9 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
10 diabetes mellitus 31 HP:0000819
11 lactic acidosis 31 HP:0003128
12 severe short stature 31 HP:0003510
13 hypoplasia of dental enamel 31 HP:0006297
14 alaninuria 31 HP:0020078

Symptoms via clinical synopsis from OMIM:

56
Head:
microcephaly

Lab:
alaninuria
lacticacidosis

Growth:
dwarfism

Endocrine:
diabetes mellitus

Teeth:
enamel hypoplasia

Clinical features from OMIM:

202900

Drugs & Therapeutics for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Search Clinical Trials , NIH Clinical Center for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus

Genetic Tests for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Anatomical Context for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

MalaCards organs/tissues related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:

40
Testes

Publications for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Articles related to Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus:

# Title Authors PMID Year
1
Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters. 56
5477682 1970
2
Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 56
6050895 1967
3
Lactic acidosis with necrotizing encephalopathy in two sibs. 56
5829993 1965

Variations for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Expression for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Search GEO for disease gene expression data for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus.

Pathways for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

GO Terms for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

Sources for Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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