MCID: SHR049
MIFTS: 10

Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

MalaCards integrated aliases for Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome:

Name: Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome 52
Soph Syndrome 52

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

MalaCards based summary : Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome, also known as soph syndrome, is related to pelger-huet anomaly and 3-methylglutaconic aciduria, type iii. Affiliated tissues include liver, bone and eye.

Related Diseases for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Diseases related to Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 pelger-huet anomaly 10.5
2 3-methylglutaconic aciduria, type iii 10.5
3 short stature, optic nerve atrophy, and pelger-huet anomaly 10.5
4 achromatopsia 10.5
5 neuroblastoma 10.5
6 acute liver failure 10.2
7 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
8 agammaglobulinemia 10.1
9 cutis laxa 10.1
10 hypoglycemia 10.1
11 growth hormone deficiency 10.1

Symptoms & Phenotypes for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Drugs & Therapeutics for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Search Clinical Trials , NIH Clinical Center for Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome

Genetic Tests for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Anatomical Context for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

MalaCards organs/tissues related to Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome:

40
Liver, Bone, Eye

Publications for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Articles related to Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome:

(show all 11)
# Title Authors PMID Year
1
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 61
31015584 2019
2
[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]. 61
31216810 2019
3
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
4
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 61
30592236 2018
5
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 61
28425089 2017
6
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 61
28031453 2017
7
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 61
27789416 2017
8
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 61
28115293 2017
9
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. 61
29369590 2016
10
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. 61
26541327 2016
11
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. 61
20577004 2010

Variations for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Expression for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Search GEO for disease gene expression data for Short Stature with Optic Atrophy and Pelger-Huët Anomaly Syndrome.

Pathways for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

GO Terms for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

Sources for Short Stature with Optic Atrophy and Pelger-Huët Anomaly...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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