MCID: MCR323
MIFTS: 19

Microcephaly, Short Stature, and Impaired Glucose Metabolism 1

Categories: Genetic diseases, Metabolic 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 75 29 6
Microcephaly, Short Stature, and Impaired Glucose Metabolism 75 37 73
Mssgm1 57 75
Mssgm 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
microcephaly, short stature, and impaired glucose metabolism 1:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

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 microcephaly and wide nose

Description 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 12.8

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 wide nose 32 HP:0000445
3 short neck 32 HP:0000470
4 primary amenorrhea 32 occasional (7.5%) HP:0000786
5 hyperinsulinemic hypoglycemia 32 occasional (7.5%) HP:0000825
6 osteoporosis 32 occasional (7.5%) HP:0000939
7 intellectual disability 32 HP:0001249
8 motor delay 32 HP:0001270
9 joint laxity 32 occasional (7.5%) HP:0001388
10 scoliosis 32 occasional (7.5%) HP:0002650
11 short stature 32 HP:0004322
12 dorsocervical fat pad 32 occasional (7.5%) HP:0025383
13 delayed thelarche 32 occasional (7.5%) HP:0025515

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:

41
Brain

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 TRMT10A p.Gly206Arg VAR_072420 rs587777744

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMT10A NM_001134665.2(TRMT10A): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs587777743 GRCh37 Chromosome 4, 100478543: 100478543
2 TRMT10A NM_001134665.2(TRMT10A): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs587777743 GRCh38 Chromosome 4, 99557386: 99557386
3 TRMT10A NM_152292.4(TRMT10A): c.616G> A (p.Gly206Arg) single nucleotide variant Pathogenic rs587777744 GRCh38 Chromosome 4, 99553814: 99553814
4 TRMT10A NM_152292.4(TRMT10A): c.616G> A (p.Gly206Arg) single nucleotide variant Pathogenic rs587777744 GRCh37 Chromosome 4, 100474971: 100474971

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 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
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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