MCID: PRM187
MIFTS: 7

Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome

Categories: Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

MalaCards integrated aliases for Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome:

Name: Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA391408
ICD10 via Orphanet 34 Q87.8

Summaries for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

MalaCards based summary : Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome is related to microcephaly. An important gene associated with Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome is TRMT10A (TRNA Methyltransferase 10A).

Related Diseases for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Diseases related to Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 9.0 PPP1R15B TRMT10A

Symptoms & Phenotypes for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Drugs & Therapeutics for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Search Clinical Trials , NIH Clinical Center for Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome

Genetic Tests for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Anatomical Context for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Publications for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Variations for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Expression for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Search GEO for disease gene expression data for Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome.

Pathways for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

GO Terms for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

Sources for Primary Microcephaly-Mild Intellectual Disability-Young-Onset...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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