MCID: MCR316
MIFTS: 21

Microcephaly, Short Stature, and Impaired Glucose Metabolism 2

Categories: Genetic diseases, Metabolic 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 75 29 6
Mssgm2 57 75

Characteristics:

OMIM:

57
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:

32
microcephaly, short stature, and impaired glucose metabolism 2:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 testis, kidney and bone, and related phenotypes are cryptorchidism and renal hypoplasia

Description 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

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum
prominent veins (in some patients)

Growth Other:
intrauterine growth retardation

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)

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

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)

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

GenitourinaryInternal GenitaliaMale:
undescended testis (in some patients)


Clinical features from OMIM:

616817

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

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

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:

41
Testis, Kidney, Bone

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 PPP1R15B p.Arg658Cys VAR_074072

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP1R15B NM_032833.4(PPP1R15B): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs869025335 GRCh37 Chromosome 1, 204375390: 204375390
2 PPP1R15B NM_032833.4(PPP1R15B): c.1972C> T (p.Arg658Cys) single nucleotide variant Pathogenic rs869025335 GRCh38 Chromosome 1, 204406262: 204406262

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 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
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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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