Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 614800

MeSH ⁴³ D004392 D009896 D010381

ICD10 via Orphanet ³³ Q87.1

Orphanet ⁵⁸ ORPHA391677

MedGen ⁴¹ C3541319

UMLS ⁷¹ C3541319

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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.

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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
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

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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

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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

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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

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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

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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	Maksimova N...Onodera O	20577004	2010
2	[The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. ⁵⁶	Tarskaia LA...Popova GN	15612572	2004
3	[Burden of hereditary diseases in residents of the Sakh republic (Iakutiia)]. ⁵⁶	Tarskaia LA...Popova GN	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	Lacassie Y...Aradhya S	32297715	2020
5	SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. ⁶¹	Fischer-Zirnsak B...Kornak U	31015584	2019
6	[A novel compound heterozygous mutation in NBAS gene causes SOPH syndrome and liver function damage]. ⁶¹	Gu JL...Mao XN	31216810	2019
7	Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. ⁶¹	Ono S...Ouchi K	30622725	2019
8	SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. ⁶¹	Li X...Wang X	30592236	2018
9	Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. ⁶¹	Balasubramanian M...Skerry TM	27789416	2017
10	Foveal hypoplasia in short stature with optic atrophy and Pelger-Huët anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation. ⁶¹	Park JW...Lee SJ	28115293	2017
11	Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype. ⁶¹	Kortum F...Kutsche K	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	Maksimova NR...Alekseeva EI	29369590	2016
13	Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. ⁶¹	Staufner C...Hoffmann GF	26541327	2016

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

Genes related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NBAS	NBAS Subunit Of NRZ Tethering Complex	Protein Coding	1680.81	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	20577004

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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_?)del	deletion	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

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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.

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

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

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

¹ BioSystems

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¹⁰ dbSNP

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¹⁶ DrugBank

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

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³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MESH via Orphanet

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

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:

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

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

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

Genes related to Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (1 elite genes):

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:

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

Expression 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