MSSGM1
MCID: MCR323
MIFTS: 23

Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 (MSSGM1)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

MalaCards integrated aliases for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

Name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 57 72 29 6
Microcephaly, Short Stature, and Impaired Glucose Metabolism 72 36 70
Mssgm1 57 72
Mssgm 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
microcephaly, short stature, and impaired glucose metabolism 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

KEGG : 36 Microcephaly, short stature, and impaired glucose metabolism (MSSGM) is a new syndrome of young onset diabetes, short stature and microcephaly with intellectual disability. The causal nonsense mutation in tRNA methyltransferase gene TRMT10A has been identified. TRMT10A is ubiquitously expressed but enriched in brain and pancreatic islets, consistent with the tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms.

MalaCards based summary : Microcephaly, Short Stature, and Impaired Glucose Metabolism 1, also known as microcephaly, short stature, and impaired glucose metabolism, is related to microcephaly, short stature, and impaired glucose metabolism 2. An important gene associated with Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 is TRMT10A (TRNA Methyltransferase 10A). Affiliated tissues include brain, and related phenotypes are scoliosis and osteoporosis

UniProtKB/Swiss-Prot : 72 Microcephaly, short stature, and impaired glucose metabolism 1: A disease characterized by microcephaly, mental retardation, short stature, and disturbed glucose metabolism. Additional clinical features include delayed puberty, hypoglycemia-related seizures, hyperinsulinemic hypoglycemia, and early-onset diabetes.

More information from OMIM: 616033

Related Diseases for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Diseases in the Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 family:

Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Diseases related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly, short stature, and impaired glucose metabolism 2 12.0

Symptoms & Phenotypes for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Human phenotypes related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 occasional (7.5%) HP:0002650
2 osteoporosis 31 occasional (7.5%) HP:0000939
3 primary amenorrhea 31 occasional (7.5%) HP:0000786
4 joint laxity 31 occasional (7.5%) HP:0001388
5 hyperinsulinemic hypoglycemia 31 occasional (7.5%) HP:0000825
6 dorsocervical fat pad 31 occasional (7.5%) HP:0025383
7 delayed thelarche 31 occasional (7.5%) HP:0025515
8 intellectual disability 31 HP:0001249
9 short neck 31 HP:0000470
10 microcephaly 31 HP:0000252
11 short stature 31 HP:0004322
12 motor delay 31 HP:0001270
13 wide nose 31 HP:0000445
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Neck:
short neck

Skeletal Skull:
microcephaly

Head And Neck Nose:
wide nose

Skeletal Spine:
scoliosis (rare)

Skeletal:
osteoporosis (rare)

Abdomen Pancreas:
inappropriate insulin secretion (in some patients)

Skeletal Limbs:
joint laxity (rare)

Endocrine Features:
hyperinsulinemic hypoglycemia (in some patients)
diabetes, early-onset (in some patients)
delayed pubertal development (rare)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Neurologic Central Nervous System:
delayed motor development
mental retardation
hypoglycemia-related seizures
small brain with no other malformation see on mri

Head And Neck Face:
low hairline

Chest Breasts:
delayed thelarche (rare)

Genitourinary Internal Genitalia Female:
primary amenorrhea (rare)

Muscle Soft Tissue:
buffalo hump (rare)

Clinical features from OMIM®:

616033 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Search Clinical Trials , NIH Clinical Center for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Genetic Tests for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Genetic tests related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

# Genetic test Affiliating Genes
1 Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 29 TRMT10A

Anatomical Context for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

MalaCards organs/tissues related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

40
Brain

Publications for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Articles related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

# Title Authors PMID Year
1
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. 6 57
25053765 2014
2
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. 57 6
24204302 2013

Variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

ClinVar genetic disease variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

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 TRMT10A NM_001134665.3(TRMT10A):c.277C>T (p.Arg93Ter) SNV Pathogenic 1033142 GRCh37: 4:100479277-100479277
GRCh38: 4:99558120-99558120
3 TRMT10A NM_001134665.3(TRMT10A):c.379C>T (p.Arg127Ter) SNV Likely pathogenic 156229 rs587777743 GRCh37: 4:100478543-100478543
GRCh38: 4:99557386-99557386
4 TRMT10A NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter) Indel Likely pathogenic 974899 GRCh37: 4:100472095-100472096
GRCh38: 4:99550938-99550939
5 TRMT10A NM_001134665.3(TRMT10A):c.388G>A (p.Ala130Thr) SNV Uncertain significance 1029187 GRCh37: 4:100478534-100478534
GRCh38: 4:99557377-99557377
6 TRMT10A NM_001134665.3(TRMT10A):c.388G>T (p.Ala130Ser) SNV Uncertain significance 1029188 GRCh37: 4:100478534-100478534
GRCh38: 4:99557377-99557377
7 TRMT10A NM_001134665.3(TRMT10A):c.398G>A (p.Arg133Gln) SNV Uncertain significance 437057 rs10007569 GRCh37: 4:100478524-100478524
GRCh38: 4:99557367-99557367
8 TRMT10A NM_001134665.3(TRMT10A):c.348G>C (p.Lys116Asn) SNV Uncertain significance 984716 GRCh37: 4:100479206-100479206
GRCh38: 4:99558049-99558049

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1:

72
# Symbol AA change Variation ID SNP ID
1 TRMT10A p.Gly206Arg VAR_072420 rs587777744

Expression for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Search GEO for disease gene expression data for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1.

Pathways for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

GO Terms for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Sources for Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

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
Content
Loading form....