MEDS2
MCID: MCR385
MIFTS: 15

Microcephaly, Epilepsy, and Diabetes Syndrome 2 (MEDS2)

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

Aliases & Classifications for Microcephaly, Epilepsy, and Diabetes Syndrome 2

MalaCards integrated aliases for Microcephaly, Epilepsy, and Diabetes Syndrome 2:

Name: Microcephaly, Epilepsy, and Diabetes Syndrome 2 57 6
Meds2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
diabetes diagnosed within first 15 months of life
onset of seizures within first 6 months of life


Classifications:



External Ids:

OMIM® 57 619278
OMIM Phenotypic Series 57 PS614231

Summaries for Microcephaly, Epilepsy, and Diabetes Syndrome 2

OMIM® : 57 MEDS2 is characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes (De Franco et al., 2020). For a discussion of genetic heterogeneity of microcephaly, epilepsy, and diabetes syndrome, see MEDS1 (614231). (619278) (Updated 20-May-2021)

MalaCards based summary : Microcephaly, Epilepsy, and Diabetes Syndrome 2, is also known as meds2. An important gene associated with Microcephaly, Epilepsy, and Diabetes Syndrome 2 is YIPF5 (Yip1 Domain Family Member 5).

Related Diseases for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Diseases in the Microcephaly, Epilepsy, and Diabetes Syndrome 1 family:

Microcephaly, Epilepsy, and Diabetes Syndrome 2

Symptoms & Phenotypes for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Weight:
low birthweight

Skeletal Skull:
severe microcephaly (median sd, -6.2)

Neurologic Central Nervous System:
severe developmental delay (in most patients)
generalized tonic-clonic seizures, neonatal/early-onset
lateral ventricles increased in size (rare)

Head And Neck Head:
severe microcephaly (median sd, -6.2)

Abdomen Pancreas:
diabetes, neonatal/early-onset

Endocrine Features:
diabetes (neonatal or early-onset)

Clinical features from OMIM®:

619278 (Updated 20-May-2021)

Drugs & Therapeutics for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Search Clinical Trials , NIH Clinical Center for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Genetic Tests for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Anatomical Context for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Publications for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Articles related to Microcephaly, Epilepsy, and Diabetes Syndrome 2:

# Title Authors PMID Year
1
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. 6 57
33164986 2020
2
Reconstruction of novel cyanobacterial siphovirus genomes from Mediterranean metagenomic fosmids. 61
23160125 2013

Variations for Microcephaly, Epilepsy, and Diabetes Syndrome 2

ClinVar genetic disease variations for Microcephaly, Epilepsy, and Diabetes Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 YIPF5 NM_030799.9(YIPF5):c.542C>T (p.Ala181Val) SNV Pathogenic 1064542 GRCh37: 5:143541851-143541851
GRCh38: 5:144162287-144162287
2 YIPF5 NM_030799.9(YIPF5):c.317_319del (p.Lys106del) Deletion Pathogenic 1064543 GRCh37: 5:143543785-143543787
GRCh38: 5:144164221-144164223
3 YIPF5 NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser) SNV Pathogenic 1064544 GRCh37: 5:143543811-143543811
GRCh38: 5:144164247-144164247
4 YIPF5 NM_030799.9(YIPF5):c.652T>A (p.Trp218Arg) SNV Pathogenic 1064545 GRCh37: 5:143540083-143540083
GRCh38: 5:144160519-144160519
5 YIPF5 NM_030799.9(YIPF5):c.290G>T (p.Gly97Val) SNV Pathogenic 1064546 GRCh37: 5:143543814-143543814
GRCh38: 5:144164250-144164250

Expression for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Search GEO for disease gene expression data for Microcephaly, Epilepsy, and Diabetes Syndrome 2.

Pathways for Microcephaly, Epilepsy, and Diabetes Syndrome 2

GO Terms for Microcephaly, Epilepsy, and Diabetes Syndrome 2

Sources for Microcephaly, Epilepsy, and Diabetes Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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