SOPH
MCID: SHR058
MIFTS: 32

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 57 72 29 13 6 70
Soph Syndrome 57 58 72
Soph 57 72
Stature, Short, Optic Nerve Atrophy, and Pelger-Huet Anomaly 39
Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
short stature-optic atrophy-pelger-huet anomaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
short stature, optic nerve atrophy, and pelger-huet anomaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


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

OMIM® : 57 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) (Updated 20-May-2021)

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 3-methylglutaconic aciduria, type iii, 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 (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include eye, neutrophil and liver, and related phenotypes are delayed skeletal maturation and hypertelorism

UniProtKB/Swiss-Prot : 72 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 short stature with optic atrophy and pelger-huët anomaly syndrome 11.0
2 3-methylglutaconic aciduria, type iii 10.2
3 pelger-huet anomaly 10.2
4 liver disease 10.1
5 acute liver failure 10.1
6 neuroblastoma 10.0
7 strabismus 9.9
8 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
9 autosomal recessive disease 9.9
10 myopia 9.9
11 agammaglobulinemia 9.9
12 cutis laxa 9.9
13 mechanical strabismus 9.9
14 hypoglycemia 9.9
15 dwarfism 9.9
16 growth hormone deficiency 9.9
17 encephalopathy 9.9

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:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 strabismus 31 occasional (7.5%) HP:0000486
4 myopia 31 occasional (7.5%) HP:0000545
5 single transverse palmar crease 31 occasional (7.5%) HP:0000954
6 hypermetropia 31 occasional (7.5%) HP:0000540
7 syndactyly 31 occasional (7.5%) HP:0001159
8 short neck 31 HP:0000470
9 thick eyebrow 31 HP:0000574
10 optic atrophy 31 HP:0000648
11 short stature 31 HP:0004322
12 brachycephaly 31 HP:0000248
13 postnatal growth retardation 31 HP:0008897
14 epicanthus 31 HP:0000286
15 brachydactyly 31 HP:0001156
16 sandal gap 31 HP:0001852
17 facial asymmetry 31 HP:0000324
18 long face 31 HP:0000276
19 long philtrum 31 HP:0000343
20 fine hair 31 HP:0002213
21 proptosis 31 HP:0000520
22 reduced visual acuity 31 HP:0007663
23 micromelia 31 HP:0002983
24 thin vermilion border 31 HP:0000233
25 cutis laxa 31 HP:0000973
26 prominent glabella 31 HP:0002057
27 narrow forehead 31 HP:0000341
28 nonprogressive visual loss 31 HP:0200068
29 hypotonia 31 HP:0001252
30 achromatopsia 31 HP:0011516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

Head And Neck Head:
brachycephaly

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
Skin Nails Hair Hair:
fine hair

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

Head And Neck Face:
facial asymmetry
long face
long philtrum
prominent glabella
narrow forehead
more
Skeletal Limbs:
micromelia

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 (Updated 20-May-2021)

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 29 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:

40
Eye, Neutrophil, Liver, Bone

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

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

(show all 17)
# Title Authors PMID Year
1
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. 57 6 61
20577004 2010
2
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. 61 6
26541327 2016
3
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. 6
26073778 2015
4
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. 57
15612572 2004
5
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. 57
14964842 2003
6
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants. 61
33707149 2021
7
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients. 61
32812336 2020
8
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation. 61
32805445 2020
9
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades. 61
32297715 2020
10
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 61
31015584 2019
11
[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]. 61
31216810 2019
12
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
13
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 61
30592236 2018
14
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 61
27789416 2017
15
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 61
28115293 2017
16
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 61
28031453 2017
17
[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

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

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NBAS NM_015909.4(NBAS):c.586C>T (p.Gln196Ter) SNV Pathogenic 430659 rs1131692171 GRCh37: 2:15676603-15676603
GRCh38: 2:15536479-15536479
2 NBAS NM_015909.4(NBAS):c.5741G>A (p.Arg1914His) SNV Pathogenic 37042 rs369698072 GRCh37: 2:15378794-15378794
GRCh38: 2:15238670-15238670
3 NBAS NM_015909.4(NBAS):c.6433-2A>G SNV Pathogenic 975151 GRCh37: 2:15330529-15330529
GRCh38: 2:15190405-15190405
4 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly) SNV Likely pathogenic 873540 GRCh37: 2:15567847-15567847
GRCh38: 2:15427723-15427723
5 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) SNV Likely pathogenic 204584 rs796052121 GRCh37: 2:15534444-15534444
GRCh38: 2:15394320-15394320
6 NBAS NM_015909.4(NBAS):c.1741C>T (p.Arg581Ter) SNV Likely pathogenic 976858 GRCh37: 2:15608642-15608642
GRCh38: 2:15468518-15468518
7 NBAS NM_015909.3:c.(?_5028)_(5724_?)del Deletion Likely pathogenic 624565 GRCh37:
GRCh38:
8 NBAS NM_015909.4(NBAS):c.2893G>A (p.Asp965Asn) SNV Uncertain significance 1032706 GRCh37: 2:15555714-15555714
GRCh38: 2:15415590-15415590
9 NBAS NM_015909.4(NBAS):c.3360+17A>G SNV Uncertain significance 1032707 GRCh37: 2:15523322-15523322
GRCh38: 2:15383198-15383198
10 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) SNV Uncertain significance 264645 rs1553367826 GRCh37: 2:15448416-15448416
GRCh38: 2:15308292-15308292
11 NBAS NM_015909.4(NBAS):c.2065T>C (p.Leu689=) SNV Uncertain significance 430660 rs1131692172 GRCh37: 2:15607485-15607485
GRCh38: 2:15467361-15467361
12 NBAS NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser) SNV Uncertain significance 431715 rs141793158 GRCh37: 2:15378671-15378671
GRCh38: 2:15238547-15238547
13 NBAS NM_015909.4(NBAS):c.5129C>T (p.Thr1710Met) SNV Uncertain significance 431716 rs369271997 GRCh37: 2:15427206-15427206
GRCh38: 2:15287082-15287082
14 NBAS NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) SNV Uncertain significance 523072 rs143212851 GRCh37: 2:15607794-15607794
GRCh38: 2:15467670-15467670

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

72
# Symbol AA change Variation ID SNP ID
1 NBAS p.Arg1914His VAR_068957 rs369698072

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

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32 ICD10
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45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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