MCID: SHR058
MIFTS: 28

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

Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Neuronal 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 75 29 13 6 73
Soph 57 75
Stature, Short, Optic Nerve Atrophy, and Pelger-Huet Anomaly 40
Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome 59
Soph Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
short stature-optic atrophy-pelger-huët anomaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 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)

MalaCards based summary : Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly, also known as soph, is related to short stature with optic atrophy and pelger-hu√ęt anomaly syndrome and social phobia, 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 bone, and related phenotypes are thin vermilion border and brachycephaly

UniProtKB/Swiss-Prot : 75 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 11.3
2 social phobia 9.9
3 aging 9.9
4 infantile liver failure syndrome 1 9.9
5 acute liver failure 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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
thick eyebrows
myopia (in some patients)
hypertelorism (in some patients)
bushy eyebrows
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

Head And Neck Nose:
straight nose

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

Skeletal:
delayed bone age (in some patients)

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

Voice:
high voice with harsh timber


Clinical features from OMIM:

614800

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

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 thin vermilion border 32 HP:0000233
2 brachycephaly 32 HP:0000248
3 long face 32 HP:0000276
4 epicanthus 32 HP:0000286
5 hypertelorism 32 occasional (7.5%) HP:0000316
6 facial asymmetry 32 HP:0000324
7 narrow forehead 32 HP:0000341
8 long philtrum 32 HP:0000343
9 short neck 32 HP:0000470
10 strabismus 32 occasional (7.5%) HP:0000486
11 proptosis 32 HP:0000520
12 hypermetropia 32 occasional (7.5%) HP:0000540
13 myopia 32 occasional (7.5%) HP:0000545
14 thick eyebrow 32 HP:0000574
15 optic atrophy 32 HP:0000648
16 single transverse palmar crease 32 occasional (7.5%) HP:0000954
17 cutis laxa 32 HP:0000973
18 brachydactyly 32 HP:0001156
19 syndactyly 32 occasional (7.5%) HP:0001159
20 muscular hypotonia 32 HP:0001252
21 sandal gap 32 HP:0001852
22 prominent glabella 32 HP:0002057
23 fine hair 32 HP:0002213
24 delayed skeletal maturation 32 occasional (7.5%) HP:0002750
25 micromelia 32 HP:0002983
26 short stature 32 HP:0004322
27 reduced visual acuity 32 HP:0007663
28 postnatal growth retardation 32 HP:0008897
29 nonprogressive visual loss 32 HP:0200068

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:

41
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:

# Title Authors Year
1
Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. ( 28031453 )
2017
2
[Population frequency and age of mutation G5741a89A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic]. ( 29369590 )
2016

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:

75
# 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 14)
# 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.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 15308292: 15308292
4 NBAS NM_015909.3(NBAS): c.4721C> T (p.Ala1574Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 15448416: 15448416
5 NBAS NM_015909.3(NBAS): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs1131692171 GRCh37 Chromosome 2, 15676603: 15676603
6 NBAS NM_015909.3(NBAS): c.586C> T (p.Gln196Ter) single nucleotide variant Pathogenic rs1131692171 GRCh38 Chromosome 2, 15536479: 15536479
7 NBAS NM_015909.3(NBAS): c.2065T> C (p.Leu689=) single nucleotide variant Uncertain significance rs1131692172 GRCh37 Chromosome 2, 15607485: 15607485
8 NBAS NM_015909.3(NBAS): c.2065T> C (p.Leu689=) single nucleotide variant Uncertain significance rs1131692172 GRCh38 Chromosome 2, 15467361: 15467361
9 NBAS NM_015909.3(NBAS): c.5864T> C (p.Leu1955Ser) single nucleotide variant Uncertain significance rs141793158 GRCh37 Chromosome 2, 15378671: 15378671
10 NBAS NM_015909.3(NBAS): c.5864T> C (p.Leu1955Ser) single nucleotide variant Uncertain significance rs141793158 GRCh38 Chromosome 2, 15238547: 15238547
11 NBAS NM_015909.3(NBAS): c.5129C> T (p.Thr1710Met) single nucleotide variant Uncertain significance rs369271997 GRCh37 Chromosome 2, 15427206: 15427206
12 NBAS NM_015909.3(NBAS): c.5129C> T (p.Thr1710Met) single nucleotide variant Uncertain significance rs369271997 GRCh38 Chromosome 2, 15287082: 15287082
13 NBAS NM_015909.3(NBAS): c.2012T> G (p.Phe671Cys) single nucleotide variant Likely pathogenic rs143212851 GRCh38 Chromosome 2, 15467670: 15467670
14 NBAS NM_015909.3(NBAS): c.2012T> G (p.Phe671Cys) single nucleotide variant Likely pathogenic rs143212851 GRCh37 Chromosome 2, 15607794: 15607794

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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