SNSK
MCID: SHR084
MIFTS: 25

Short Stature with Nonspecific Skeletal Abnormalities (SNSK)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Short Stature with Nonspecific Skeletal Abnormalities

MalaCards integrated aliases for Short Stature with Nonspecific Skeletal Abnormalities:

Name: Short Stature with Nonspecific Skeletal Abnormalities 57 29 6
Snsk 57 72
Stature, Short, with Nonspecific Skeletal Abnormalities 39
Short Stature with Non-Specific Skeletal Abnormalities 72

Characteristics:

OMIM®:

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


HPO:

31
short stature with nonspecific skeletal abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616255
MeSH 44 D004392
SNOMED-CT via HPO 68 123983008 263681008

Summaries for Short Stature with Nonspecific Skeletal Abnormalities

UniProtKB/Swiss-Prot : 72 Short stature with non-specific skeletal abnormalities: A condition characterized by short stature, defined as a height less than 2 SD below normal, and no endocrine abnormalities.

MalaCards based summary : Short Stature with Nonspecific Skeletal Abnormalities, also known as snsk, is related to brachydactyly and brachydactyly, type a1. An important gene associated with Short Stature with Nonspecific Skeletal Abnormalities is NPR2 (Natriuretic Peptide Receptor 2), and among its related pathways/superpathways is G-Beta Gamma Signaling. Affiliated tissues include bone, and related phenotypes are delayed skeletal maturation and proportionate short stature

More information from OMIM: 616255

Related Diseases for Short Stature with Nonspecific Skeletal Abnormalities

Diseases related to Short Stature with Nonspecific Skeletal Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 29.5 NPR2 IHH
2 brachydactyly, type a1 10.2
3 acrocapitofemoral dysplasia 9.7 NPR2 IHH
4 thanatophoric dysplasia, type i 9.7 NPR2 IHH
5 hypochondroplasia 9.7 NPR2 IHH
6 bone development disease 9.7 NPR2 IHH
7 craniosynostosis 9.6 NPR2 IHH
8 odontochondrodysplasia 9.6 NPR2 IHH

Graphical network of the top 20 diseases related to Short Stature with Nonspecific Skeletal Abnormalities:



Diseases related to Short Stature with Nonspecific Skeletal Abnormalities

Symptoms & Phenotypes for Short Stature with Nonspecific Skeletal Abnormalities

Human phenotypes related to Short Stature with Nonspecific Skeletal Abnormalities:

31
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
2 proportionate short stature 31 HP:0003508

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
delayed bone age (in some patients)

Growth Other:
increased arm span to height (in some patients)
increased sitting height to total height (in some patients)

Growth Height:
short stature, proportionate (-1 to -3sd)

Clinical features from OMIM®:

616255 (Updated 05-Apr-2021)

Drugs & Therapeutics for Short Stature with Nonspecific Skeletal Abnormalities

Search Clinical Trials , NIH Clinical Center for Short Stature with Nonspecific Skeletal Abnormalities

Genetic Tests for Short Stature with Nonspecific Skeletal Abnormalities

Genetic tests related to Short Stature with Nonspecific Skeletal Abnormalities:

# Genetic test Affiliating Genes
1 Short Stature with Nonspecific Skeletal Abnormalities 29 NPR2

Anatomical Context for Short Stature with Nonspecific Skeletal Abnormalities

MalaCards organs/tissues related to Short Stature with Nonspecific Skeletal Abnormalities:

40
Bone

Publications for Short Stature with Nonspecific Skeletal Abnormalities

Articles related to Short Stature with Nonspecific Skeletal Abnormalities:

# Title Authors PMID Year
1
Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature. 6 57
24471569 2014
2
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. 6 57
24001744 2013
3
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. 6 57
16384845 2006
4
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. 6
15146390 2004
5
Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy". 61
31290960 2019
6
Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy". 61
31290976 2019
7
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy. 61
29155992 2018

Variations for Short Stature with Nonspecific Skeletal Abnormalities

ClinVar genetic disease variations for Short Stature with Nonspecific Skeletal Abnormalities:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NPR2 NM_003995.3(NPR2):c.1092del (p.Ile364fs) Deletion Pathogenic 208355 rs879255257 GRCh37: 9:35800122-35800122
GRCh38: 9:35800125-35800125
2 NPR2 NM_003995.3(NPR2):c.2455C>T (p.Arg819Cys) SNV Pathogenic 208356 rs766256429 GRCh37: 9:35806471-35806471
GRCh38: 9:35806474-35806474
3 NPR2 NM_003995.3(NPR2):c.226T>C (p.Ser76Pro) SNV Pathogenic 208357 rs796065355 GRCh37: 9:35792631-35792631
GRCh38: 9:35792634-35792634
4 NPR2 NM_003995.3(NPR2):c.788G>C (p.Arg263Pro) SNV Pathogenic 208358 rs139036657 GRCh37: 9:35794015-35794015
GRCh38: 9:35794018-35794018
5 NPR2 NM_003995.4(NPR2):c.328C>T SNV Pathogenic 208359 rs758478717 GRCh37: 9:35792733-35792733
GRCh38: 9:35792736-35792736
6 NPR2 NM_003995.3(NPR2):c.1249C>G (p.Gln417Glu) SNV Pathogenic 208360 rs796065356 GRCh37: 9:35800736-35800736
GRCh38: 9:35800739-35800739
7 NPR2 NM_003995.3(NPR2):c.1435C>T (p.Arg479Ter) SNV Pathogenic 375290 rs1057519324 GRCh37: 9:35801150-35801150
GRCh38: 9:35801153-35801153
8 NPR2 NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys) SNV Likely pathogenic 997998 GRCh37: 9:35800736-35800736
GRCh38: 9:35800739-35800739
9 NPR2 NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter) SNV Likely pathogenic 998027 GRCh37: 9:35806157-35806157
GRCh38: 9:35806160-35806160
10 NPR2 NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) SNV Uncertain significance 193262 rs140014632 GRCh37: 9:35792469-35792469
GRCh38: 9:35792472-35792472
11 NPR2 NM_003995.4(NPR2):c.494G>A (p.Arg165His) SNV Uncertain significance 931161 GRCh37: 9:35792899-35792899
GRCh38: 9:35792902-35792902
12 NPR2 NM_003995.4(NPR2):c.2246G>A (p.Arg749Gln) SNV Uncertain significance 976392 GRCh37: 9:35806104-35806104
GRCh38: 9:35806107-35806107

UniProtKB/Swiss-Prot genetic disease variations for Short Stature with Nonspecific Skeletal Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 NPR2 p.Ser76Pro VAR_074678 rs796065355
2 NPR2 p.Arg110Cys VAR_074679 rs758478717
3 NPR2 p.Arg263Pro VAR_074681 rs139036657
4 NPR2 p.Gln417Glu VAR_074682 rs796065356
5 NPR2 p.Arg819Cys VAR_074683 rs766256429

Expression for Short Stature with Nonspecific Skeletal Abnormalities

Search GEO for disease gene expression data for Short Stature with Nonspecific Skeletal Abnormalities.

Pathways for Short Stature with Nonspecific Skeletal Abnormalities

Pathways related to Short Stature with Nonspecific Skeletal Abnormalities according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 NPR2 IHH

GO Terms for Short Stature with Nonspecific Skeletal Abnormalities

Biological processes related to Short Stature with Nonspecific Skeletal Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 8.62 NPR2 IHH

Sources for Short Stature with Nonspecific Skeletal Abnormalities

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....