MCID: PRM187
MIFTS: 21

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

Categories: Endocrine diseases, Fetal diseases, Neuronal 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 58

Characteristics:

Orphanet epidemiological data:

58
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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 phenotypes are diabetes mellitus and small for gestational age

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 9.5 TRMT10A PPP1R15B

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

Human phenotypes related to Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000819
2 small for gestational age 58 31 hallmark (90%) Very frequent (99-80%) HP:0001518
3 proportionate short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003508
4 congenital microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0011451
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
7 hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001943
8 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 seizure 31 frequent (33%) HP:0001250
11 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
12 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
13 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
14 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
15 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
16 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
17 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
18 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
21 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
22 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
23 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
24 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
25 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
26 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
27 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
28 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
29 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
30 fine hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002213
31 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
32 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
33 down-sloping shoulders 58 31 occasional (7.5%) Occasional (29-5%) HP:0200021
34 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
35 high pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001620
36 hypotelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000601
37 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
38 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
39 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
40 wide nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000445
41 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
42 severe postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008850
43 sparse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0008070
44 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
45 slender toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0011308
46 spastic paraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002313
47 distal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002460
48 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
49 slender finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001238
50 muscular hypotonia of the trunk 58 31 occasional (7.5%) Occasional (29-5%) HP:0008936

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...

Articles related to Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome:

# Title Authors PMID Year
1
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. 6
26159176 2015
2
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability. 6
26307080 2015
3
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. 6
25053765 2014
4
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. 6
24204302 2013

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

ClinVar genetic disease variations for Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRMT10A NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg) SNV Pathogenic 156230 rs587777744 GRCh37: 4:100474971-100474971
GRCh38: 4:99553814-99553814
2 PPP1R15B NM_032833.4(PPP1R15B):c.1972C>T (p.Arg658Cys) SNV Pathogenic 222030 rs869025335 GRCh37: 1:204375390-204375390
GRCh38: 1:204406262-204406262
3 TRMT10A NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter) SNV Pathogenic 1033142 GRCh37: 4:100479277-100479277
GRCh38: 4:99558120-99558120
4 TRMT10A NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) SNV Likely pathogenic 156229 rs587777743 GRCh37: 4:100478543-100478543
GRCh38: 4:99557386-99557386
5 TRMT10A NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter) Indel Likely pathogenic 974899 GRCh37: 4:100472095-100472096
GRCh38: 4:99550938-99550939
6 TRMT10A NM_001134665.3(TRMT10A):c.388G>A (p.Ala130Thr) SNV Uncertain significance 1029187 GRCh37: 4:100478534-100478534
GRCh38: 4:99557377-99557377
7 TRMT10A NM_001134665.3(TRMT10A):c.388G>T (p.Ala130Ser) SNV Uncertain significance 1029188 GRCh37: 4:100478534-100478534
GRCh38: 4:99557377-99557377
8 PPP1R15B NM_032833.4(PPP1R15B):c.25C>G (p.Arg9Gly) SNV Uncertain significance 587627 rs759915160 GRCh37: 1:204380515-204380515
GRCh38: 1:204411387-204411387
9 TRMT10A NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln) SNV Uncertain significance 437057 rs10007569 GRCh37: 4:100478524-100478524
GRCh38: 4:99557367-99557367
10 TRMT10A NM_001134665.3(TRMT10A):c.348G>C (p.Lys116Asn) SNV Uncertain significance 984716 GRCh37: 4:100479206-100479206
GRCh38: 4:99558049-99558049

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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