MCID: SHR084
MIFTS: 20

Short Stature with Nonspecific Skeletal Abnormalities

Categories: Genetic diseases, Endocrine diseases, Bone 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 75
Stature, Short, with Nonspecific Skeletal Abnormalities 40
Short Stature with Non-Specific Skeletal Abnormalities 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
short stature with nonspecific skeletal abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616255
MeSH 44 D004392
ICD10 33 E34.3
SNOMED-CT via HPO 69 263681008 123983008

Summaries for Short Stature with Nonspecific Skeletal Abnormalities

UniProtKB/Swiss-Prot : 75 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, is also known as snsk. 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

Description from OMIM: 616255

Related Diseases for Short Stature with Nonspecific Skeletal Abnormalities

Symptoms & Phenotypes for Short Stature with Nonspecific Skeletal Abnormalities

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature, proportionate (-1 to -3sd)

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)


Clinical features from OMIM:

616255

Human phenotypes related to Short Stature with Nonspecific Skeletal Abnormalities:

32
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
2 proportionate short stature 32 HP:0003508

MGI Mouse Phenotypes related to Short Stature with Nonspecific Skeletal Abnormalities:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 IHH NPR2
2 limbs/digits/tail MP:0005371 8.62 IHH NPR2

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:

41
Bone

Publications for Short Stature with Nonspecific Skeletal Abnormalities

Variations for Short Stature with Nonspecific Skeletal Abnormalities

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

75
# 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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPR2 NM_003995.3(NPR2): c.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh38 Chromosome 9, 35800126: 35800126
2 NPR2 NM_003995.3(NPR2): c.1092delT (p.Ile364Metfs) deletion Pathogenic rs879255257 GRCh37 Chromosome 9, 35800123: 35800123
3 NPR2 NM_003995.3(NPR2): c.2455C> T (p.Arg819Cys) single nucleotide variant Pathogenic rs766256429 GRCh37 Chromosome 9, 35806471: 35806471
4 NPR2 NM_003995.3(NPR2): c.2455C> T (p.Arg819Cys) single nucleotide variant Pathogenic rs766256429 GRCh38 Chromosome 9, 35806474: 35806474
5 NPR2 NM_003995.3(NPR2): c.226T> C (p.Ser76Pro) single nucleotide variant Pathogenic rs796065355 GRCh38 Chromosome 9, 35792634: 35792634
6 NPR2 NM_003995.3(NPR2): c.226T> C (p.Ser76Pro) single nucleotide variant Pathogenic rs796065355 GRCh37 Chromosome 9, 35792631: 35792631
7 NPR2 NM_003995.3(NPR2): c.788G> C (p.Arg263Pro) single nucleotide variant Pathogenic rs139036657 GRCh37 Chromosome 9, 35794015: 35794015
8 NPR2 NM_003995.3(NPR2): c.788G> C (p.Arg263Pro) single nucleotide variant Pathogenic rs139036657 GRCh38 Chromosome 9, 35794018: 35794018
9 NPR2 NM_003995.3(NPR2): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs758478717 GRCh37 Chromosome 9, 35792733: 35792733
10 NPR2 NM_003995.3(NPR2): c.328C> T (p.Arg110Cys) single nucleotide variant Pathogenic rs758478717 GRCh38 Chromosome 9, 35792736: 35792736
11 NPR2 NM_003995.3(NPR2): c.1249C> G (p.Gln417Glu) single nucleotide variant Pathogenic rs796065356 GRCh37 Chromosome 9, 35800736: 35800736
12 NPR2 NM_003995.3(NPR2): c.1249C> G (p.Gln417Glu) single nucleotide variant Pathogenic rs796065356 GRCh38 Chromosome 9, 35800739: 35800739

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 IHH NPR2

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 IHH NPR2

Sources for Short Stature with Nonspecific Skeletal Abnormalities

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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