MSSGM2
MCID: MCR316
MIFTS: 23

Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 (MSSGM2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

MalaCards integrated aliases for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

Name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 57 72 29 6
Mssgm2 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable phenotype
two consanguineous families with two affected sibs each have been reported (last curated february 2016)
diabetes diagnosed in second or third decade of life


HPO:

31
microcephaly, short stature, and impaired glucose metabolism 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

UniProtKB/Swiss-Prot : 72 Microcephaly, short stature, and impaired glucose metabolism 2: A disease characterized by microcephaly, mental retardation, short stature, and disturbed glucose metabolism.

MalaCards based summary : Microcephaly, Short Stature, and Impaired Glucose Metabolism 2, is also known as mssgm2. An important gene associated with Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 is PPP1R15B (Protein Phosphatase 1 Regulatory Subunit 15B). Affiliated tissues include bone and testis, and related phenotypes are hypothyroidism and hyperlordosis

More information from OMIM: 616817

Related Diseases for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

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

Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Symptoms & Phenotypes for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Human phenotypes related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 occasional (7.5%) HP:0000821
2 hyperlordosis 31 occasional (7.5%) HP:0003307
3 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
4 macrotia 31 occasional (7.5%) HP:0000400
5 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
6 full cheeks 31 occasional (7.5%) HP:0000293
7 cryptorchidism 31 occasional (7.5%) HP:0000028
8 micrognathia 31 occasional (7.5%) HP:0000347
9 epicanthus 31 occasional (7.5%) HP:0000286
10 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
11 narrow mouth 31 occasional (7.5%) HP:0000160
12 downturned corners of mouth 31 occasional (7.5%) HP:0002714
13 renal hypoplasia 31 occasional (7.5%) HP:0000089
14 down-sloping shoulders 31 occasional (7.5%) HP:0200021
15 hypotelorism 31 occasional (7.5%) HP:0000601
16 blue sclerae 31 occasional (7.5%) HP:0000592
17 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
18 increased vertebral height 31 occasional (7.5%) HP:0004570
19 truncal ataxia 31 occasional (7.5%) HP:0002078
20 prominent superficial veins 31 occasional (7.5%) HP:0001015
21 delayed myelination 31 occasional (7.5%) HP:0012448
22 hypoplasia of the brainstem 31 occasional (7.5%) HP:0002365
23 spasticity 31 HP:0001257
24 dysarthria 31 HP:0001260
25 hearing impairment 31 HP:0000365
26 abnormal vertebral morphology 31 HP:0003468
27 microcephaly 31 HP:0000252
28 short stature 31 HP:0004322
29 delayed puberty 31 HP:0000823
30 intellectual disability, severe 31 HP:0010864
31 intrauterine growth retardation 31 HP:0001511
32 pectus excavatum 31 HP:0000767
33 kyphoscoliosis 31 HP:0002751
34 fine hair 31 HP:0002213
35 high pitched voice 31 HP:0001620
36 gait ataxia 31 HP:0002066
37 sparse hair 31 HP:0008070
38 recurrent hypoglycemia 31 HP:0001988
39 small for gestational age 31 HP:0001518
40 oligodontia 31 HP:0000677
41 brisk reflexes 31 HP:0001348
42 kinetic tremor 31 HP:0030186
43 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Height:
short stature

Chest External Features:
pectus excavatum
prominent veins (in some patients)

Endocrine Features:
hypothyroidism (rare)
delayed puberty (in some patients)
young-onset diabetes
residual beta-cell mass present
insulin administration required for glucose control

Voice:
high-pitched voice (in some patients)
dysarthric speech (rare)

Skeletal Spine:
kyphoscoliosis (in some patients)
hyperlordosis (in some patients)
tall vertebral bodies (in some patients)
loss of lumbar lordosis (in some patients)

Genitourinary Kidneys:
dilated calyces (in some patients)
small kidneys (in some patients)

Head And Neck Ears:
large ears (in some patients)
sensorineural deafness (rare)

Head And Neck Teeth:
oligodontia (in some patients)
dental hypoplasia (in some patients)

Skeletal Skull:
severe microcephaly

Abdomen Pancreas:
young-onset diabetes

Skeletal Feet:
everted feet (in some patients)

Growth Other:
intrauterine growth retardation

Skin Nails Hair Hair:
sparse hair
thin hair

Neurologic Central Nervous System:
mental retardation, severe
ataxic gait (in some patients)
thin corpus callosum (in some patients)
small brainstem (in some patients)
delayed myelination (in some patients)
more
Head And Neck Eyes:
blue sclerae (rare)
downslanting palpebral fissures (in some patients)
epicanthal folds (in some patients)
hypotelorism (in some patients)

Head And Neck Face:
micrognathia (in some patients)
full cheeks (in some patients)

Head And Neck Mouth:
small mouth (in some patients)
downturned corners of mouth (in some patients)

Skeletal:
delayed bone age (in some patients)

Head And Neck Head:
severe microcephaly

Chest Ribs Sternum Clavicles And Scapulae:
rounded shoulders (in some patients)
sloping shoulders (in some patients)

Genitourinary Internal Genitalia Male:
undescended testis (in some patients)

Clinical features from OMIM®:

616817 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Search Clinical Trials , NIH Clinical Center for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Genetic Tests for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Genetic tests related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

# Genetic test Affiliating Genes
1 Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 29 PPP1R15B

Anatomical Context for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

MalaCards organs/tissues related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

40
Bone, Testis

Publications for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Articles related to Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

# Title Authors PMID Year
1
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. 57 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 57
26307080 2015

Variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

ClinVar genetic disease variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP1R15B NM_032833.4(PPP1R15B):c.1972C>T (p.Arg658Cys) SNV Pathogenic 222030 rs869025335 GRCh37: 1:204375390-204375390
GRCh38: 1:204406262-204406262
2 PPP1R15B NM_032833.4(PPP1R15B):c.25C>G (p.Arg9Gly) SNV Uncertain significance 587627 rs759915160 GRCh37: 1:204380515-204380515
GRCh38: 1:204411387-204411387

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2:

72
# Symbol AA change Variation ID SNP ID
1 PPP1R15B p.Arg658Cys VAR_074072 rs869025335

Expression for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Search GEO for disease gene expression data for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2.

Pathways for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

GO Terms for Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Sources for Microcephaly, Short Stature, and Impaired Glucose Metabolism 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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