SOPH
MCID: SHR058
MIFTS: 29

Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

MalaCards integrated aliases for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

Name: Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 58 76 30 13 6 74
Soph Syndrome 58 60 76
Soph 58 76
Stature, Short, Optic Nerve Atrophy, and Pelger-Huet Anomaly 41
Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
short stature-optic atrophy-pelger-huët anomaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
short stature, optic nerve atrophy, and pelger-huet anomaly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

OMIM : 58 Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see 169400), and normal intelligence. (614800)

MalaCards based summary : Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly, also known as soph syndrome, is related to short stature with optic atrophy and pelger-huët anomaly syndrome and infantile liver failure syndrome 1, and has symptoms including tenting - skin and exophthalmos, bilateral. An important gene associated with Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly is NBAS (Neuroblastoma Amplified Sequence). Affiliated tissues include neutrophil, skin and liver, and related phenotypes are hypertelorism and delayed skeletal maturation

UniProtKB/Swiss-Prot : 76 Short stature, optic nerve atrophy, and Pelger-Huet anomaly: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision.

Related Diseases for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 short stature with optic atrophy and pelger-huët anomaly syndrome 11.5
2 infantile liver failure syndrome 1 10.0
3 acute liver failure 10.0
4 social phobia 10.0
5 cutis laxa 10.0
6 growth hormone deficiency 10.0

Graphical network of the top 20 diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:



Diseases related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Symptoms & Phenotypes for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Human phenotypes related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 delayed skeletal maturation 33 occasional (7.5%) HP:0002750
3 strabismus 33 occasional (7.5%) HP:0000486
4 myopia 33 occasional (7.5%) HP:0000545
5 single transverse palmar crease 33 occasional (7.5%) HP:0000954
6 syndactyly 33 occasional (7.5%) HP:0001159
7 hypermetropia 33 occasional (7.5%) HP:0000540
8 short neck 33 HP:0000470
9 muscular hypotonia 33 HP:0001252
10 thick eyebrow 33 HP:0000574
11 optic atrophy 33 HP:0000648
12 short stature 33 HP:0004322
13 brachycephaly 33 HP:0000248
14 long philtrum 33 HP:0000343
15 micromelia 33 HP:0002983
16 epicanthus 33 HP:0000286
17 postnatal growth retardation 33 HP:0008897
18 reduced visual acuity 33 HP:0007663
19 brachydactyly 33 HP:0001156
20 sandal gap 33 HP:0001852
21 long face 33 HP:0000276
22 fine hair 33 HP:0002213
23 proptosis 33 HP:0000520
24 thin vermilion border 33 HP:0000233
25 facial asymmetry 33 HP:0000324
26 prominent glabella 33 HP:0002057
27 cutis laxa 33 HP:0000973
28 narrow forehead 33 HP:0000341
29 achromatopsia 33 HP:0011516
30 nonprogressive visual loss 33 HP:0200068

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Head And Neck Head:
brachycephaly

Head And Neck Face:
long philtrum
long face
facial asymmetry
prominent glabella
narrow forehead
more
Head And Neck Eyes:
epicanthus
exophthalmos, bilateral
thick eyebrows
myopia (in some patients)
hypertelorism (in some patients)
more
Skeletal Feet:
brachydactyly
sandal gap
wide feet
hypermobility of small joints
high arch
more
Head And Neck Mouth:
thin lips

Growth Height:
postnatal growth failure

Skeletal:
delayed bone age (in some patients)

Neurologic Central Nervous System:
normal intellectual function

Hematology:
hypolobulation of granulocyte nuclei (pelger-huet anomaly)

Muscle Soft Tissue:
muscular hypotonia

Skeletal Skull:
brachycephaly
hypoplasia of frontal tubers
hypoplasia of parietal tubers

Skeletal Limbs:
micromelia

Skeletal Hands:
brachydactyly
hypermobility of small joints
syndactyly (rare)
simian crease (in some patients)

Skin Nails Hair Hair:
fine hair

Skin Nails Hair Skin:
loose skin
decreased turgor of skin

Head And Neck Nose:
straight nose

Genitourinary Internal Genitalia Female:
uterine hypoplasia (in some patients)

Voice:
high voice with harsh timber

Clinical features from OMIM:

614800

UMLS symptoms related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:


tenting - skin, exophthalmos, bilateral

Drugs & Therapeutics for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Search Clinical Trials , NIH Clinical Center for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Genetic Tests for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Genetic tests related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

# Genetic test Affiliating Genes
1 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 30 NBAS

Anatomical Context for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

MalaCards organs/tissues related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

42
Neutrophil, Skin, Liver, Bone, Eye

Publications for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Articles related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

# Title Authors Year
1
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. ( 31015584 )
2019
2
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. ( 30592236 )
2018
3
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. ( 28031453 )
2017
4
[Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. ( 29369590 )
2016
5
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. ( 20577004 )
2010

Variations for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

76
# Symbol AA change Variation ID SNP ID
1 NBAS p.Arg1914His VAR_068957 rs369698072

ClinVar genetic disease variations for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 NBAS NM_015909.3(NBAS): c.5741G> A (p.Arg1914His) single nucleotide variant Pathogenic rs369698072 GRCh37 Chromosome 2, 15378794: 15378794
2 NBAS NM_015909.3(NBAS): c.5741G> A (p.Arg1914His) single nucleotide variant Pathogenic rs369698072 GRCh38 Chromosome 2, 15238670: 15238670
3 NBAS NM_015909.3(NBAS): c.3164T> C (p.Leu1055Pro) single nucleotide variant Likely pathogenic rs796052121 GRCh37 Chromosome 2, 15534444: 15534444
4 NBAS NM_015909.3(NBAS): c.3164T> C (p.Leu1055Pro) single nucleotide variant Likely pathogenic rs796052121 GRCh38 Chromosome 2, 15394320: 15394320
5 NBAS NM_015909.3(NBAS): c.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance rs1553367826 GRCh38 Chromosome 2, 15308292: 15308292
6 NBAS NM_015909.3(NBAS): c.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance rs1553367826 GRCh37 Chromosome 2, 15448416: 15448416
7 NBAS NM_015909.3(NBAS): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs1131692171 GRCh37 Chromosome 2, 15676603: 15676603
8 NBAS NM_015909.3(NBAS): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs1131692171 GRCh38 Chromosome 2, 15536479: 15536479
9 NBAS NM_015909.3(NBAS): c.2065T> C (p.Leu689=) single nucleotide variant Uncertain significance rs1131692172 GRCh37 Chromosome 2, 15607485: 15607485
10 NBAS NM_015909.3(NBAS): c.2065T> C (p.Leu689=) single nucleotide variant Uncertain significance rs1131692172 GRCh38 Chromosome 2, 15467361: 15467361
11 NBAS NM_015909.3(NBAS): c.5864T> C (p.Leu1955Ser) single nucleotide variant Uncertain significance rs141793158 GRCh37 Chromosome 2, 15378671: 15378671
12 NBAS NM_015909.3(NBAS): c.5864T> C (p.Leu1955Ser) single nucleotide variant Uncertain significance rs141793158 GRCh38 Chromosome 2, 15238547: 15238547
13 NBAS NM_015909.3(NBAS): c.5129C> T (p.Thr1710Met) single nucleotide variant Uncertain significance rs369271997 GRCh37 Chromosome 2, 15427206: 15427206
14 NBAS NM_015909.3(NBAS): c.5129C> T (p.Thr1710Met) single nucleotide variant Uncertain significance rs369271997 GRCh38 Chromosome 2, 15287082: 15287082
15 NBAS NM_015909.3(NBAS): c.2012T> G (p.Phe671Cys) single nucleotide variant Likely pathogenic rs143212851 GRCh38 Chromosome 2, 15467670: 15467670
16 NBAS NM_015909.3(NBAS): c.2012T> G (p.Phe671Cys) single nucleotide variant Likely pathogenic rs143212851 GRCh37 Chromosome 2, 15607794: 15607794
17 NBAS NM_015909.3: c.(?_5028)_(5724_?)del deletion Likely pathogenic

Expression for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Search GEO for disease gene expression data for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly.

Pathways for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

GO Terms for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

Sources for Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....