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 56 73 29 13 6 71
Soph Syndrome 56 58 73
Soph 56 73
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:

56
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 : 56 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 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 neutrophil, skin and bone, and related phenotypes are delayed skeletal maturation and hypertelorism

UniProtKB/Swiss-Prot : 73 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 11.6
2 3-methylglutaconic aciduria, type iii 10.4
3 pelger-huet anomaly 10.4
4 acute liver failure 10.3
5 strabismus 10.1
6 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
7 joint laxity, short stature, and myopia 10.1
8 autosomal recessive disease 10.1
9 social phobia 10.1
10 myopia 10.1
11 agammaglobulinemia 10.1
12 cutis laxa 10.1
13 neuroblastoma 10.1
14 mechanical strabismus 10.1
15 hypoglycemia 10.1
16 dwarfism 10.1
17 growth hormone deficiency 10.1

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 muscular hypotonia 31 HP:0001252
10 thick eyebrow 31 HP:0000574
11 optic atrophy 31 HP:0000648
12 short stature 31 HP:0004322
13 brachycephaly 31 HP:0000248
14 postnatal growth retardation 31 HP:0008897
15 epicanthus 31 HP:0000286
16 brachydactyly 31 HP:0001156
17 sandal gap 31 HP:0001852
18 facial asymmetry 31 HP:0000324
19 long face 31 HP:0000276
20 long philtrum 31 HP:0000343
21 fine hair 31 HP:0002213
22 proptosis 31 HP:0000520
23 reduced visual acuity 31 HP:0007663
24 micromelia 31 HP:0002983
25 thin vermilion border 31 HP:0000233
26 cutis laxa 31 HP:0000973
27 prominent glabella 31 HP:0002057
28 narrow forehead 31 HP:0000341
29 achromatopsia 31 HP:0011516
30 nonprogressive visual loss 31 HP:0200068

Symptoms via clinical synopsis from OMIM:

56
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

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
Neutrophil, Skin, Bone, Eye, Liver

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 13)
# 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. 6 56 61
20577004 2010
2
[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. 56
15612572 2004
3
[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. 56
14964842 2003
4
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
5
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. 61
31015584 2019
6
[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]. 61
31216810 2019
7
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. 61
30622725 2019
8
SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. 61
30592236 2018
9
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. 61
27789416 2017
10
Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. 61
28115293 2017
11
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. 61
28031453 2017
12
[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
13
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. 61
26541327 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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NBAS NM_015909.4(NBAS):c.586C>T (p.Gln196Ter)SNV Pathogenic 430659 rs1131692171 2:15676603-15676603 2:15536479-15536479
2 NBAS NM_015909.4(NBAS):c.5741G>A (p.Arg1914His)SNV Pathogenic 37042 rs369698072 2:15378794-15378794 2:15238670-15238670
3 NBAS NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro)SNV Likely pathogenic 204584 rs796052121 2:15534444-15534444 2:15394320-15394320
4 NBAS NM_015909.3:c.(?_5028)_(5724_?)deldeletion Likely pathogenic 624565
5 NBAS NM_015909.4(NBAS):c.2411A>G (p.Glu804Gly)SNV Likely pathogenic 873540 2:15567847-15567847 2:15427723-15427723
6 NBAS NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val)SNV Uncertain significance 264645 rs1553367826 2:15448416-15448416 2:15308292-15308292
7 NBAS NM_015909.4(NBAS):c.2065T>C (p.Leu689=)SNV Uncertain significance 430660 rs1131692172 2:15607485-15607485 2:15467361-15467361
8 NBAS NM_015909.4(NBAS):c.5864T>C (p.Leu1955Ser)SNV Uncertain significance 431715 rs141793158 2:15378671-15378671 2:15238547-15238547
9 NBAS NM_015909.4(NBAS):c.5129C>T (p.Thr1710Met)SNV Uncertain significance 431716 rs369271997 2:15427206-15427206 2:15287082-15287082
10 NBAS NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys)SNV Uncertain significance 523072 rs143212851 2:15607794-15607794 2:15467670-15467670

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

73
# 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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