NATD
MCID: OGD001
MIFTS: 37

Ogden Syndrome (NATD)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Ogden Syndrome

MalaCards integrated aliases for Ogden Syndrome:

Name: Ogden Syndrome 57 12 76 59 75 15 73
N-Terminal Acetyltransferase Deficiency 57 12 75 29 13 6
Ogdns 57 12 75
Natd 57 75
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome 59
X-Linked Malformation and Infantile Lethality Syndrome 12
N-Terminal Acetyltransferase Deficiency; Natd 57
N-Alpha-Acetyltransferase 12
Ogden Syndrome ) 40

Characteristics:

Orphanet epidemiological data:

59
ogden syndrome
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Miscellaneous:
variable phenotype
variable severity
onset at birth
early death may occur from cardiogenic shock preceded by arrhythmia
two affected females have been reported (last curated november 2015)

Inheritance:
x-linked dominant
x-linked recessive


HPO:

32

Classifications:



Summaries for Ogden Syndrome

UniProtKB/Swiss-Prot : 75 N-terminal acetyltransferase deficiency: An enzymatic deficiency resulting in postnatal growth failure with severe delays and dysmorphic features. It is clinically characterized by wrinkled forehead, prominent eyes, widely opened anterior and posterior fontanels, downsloping palpebral fissures, thickened lids, large ears, flared nares, hypoplastic alae, short columella, protruding upper lip, and microretrognathia. There are also delayed closing of fontanels and broad great toes. Skin is characterized by redundancy or laxity with minimal subcutaneous fat, cutaneous capillary malformations, and very fine hair and eyebrows. Death results from cardiogenic shock following arrhythmia.

MalaCards based summary : Ogden Syndrome, also known as n-terminal acetyltransferase deficiency, is related to lung cancer. An important gene associated with Ogden Syndrome is NAA10 (N(Alpha)-Acetyltransferase 10, NatA Catalytic Subunit). Affiliated tissues include skin, eye and lung, and related phenotypes are low-set ears and frontal bossing

Disease Ontology : 12 An X-linked disease characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has material basis in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28.

OMIM : 57 Ogden syndrome is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Most patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015). (300855)

Wikipedia : 76 Ogden Syndrome, also known as n-terminal acetyltransferase deficiency (NATD), is an x-linked disorder of... more...

Related Diseases for Ogden Syndrome

Diseases related to Ogden Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung cancer 10.1

Symptoms & Phenotypes for Ogden Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
large ears

Head And Neck Face:
coarse facial features
prominent forehead
microretrognathia
prominent philtrum
wrinkled forehead
more
Growth Height:
short stature

Skin Nails Hair Skin:
redundant skin
cutis laxa
wrinkled forehead
cutaneous capillary malformations

Cardiovascular Vascular:
pulmonary artery stenosis

Head And Neck Nose:
short columella
broad nasal bridge
flat nasal bridge
hypoplastic alae nasi
flared nares

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
sparse eyebrows
prominent eyes
thick eyelids

Head And Neck Teeth:
dental abnormalities

Cardiovascular Heart:
arrhythmias
torsade de pointes
atrial septal defect (asd)
ventral septal defect (vsd)
premature ventricular contraction (pvc)
more
Growth Other:
postnatal growth failure

Neurologic Behavioral Psychiatric Manifestations:
autistic feature
stereotypic behaviors

Genitourinary Internal Genitalia Male:
inguinal hernia
cryptorchidism

Head And Neck Head:
microcephaly

Immunology:
recurrent infections

Skin Nails Hair Hair:
long eyelashes
sparse eyebrows
fine hair (in some patients)

Neurologic Central Nervous System:
cerebral atrophy
delayed psychomotor development, severe
hypotonia progressing to hypertonia

Muscle Soft Tissue:
minimal subcutaneous fat

Head And Neck Mouth:
high-arched palate
thin upper lip
protruding upper lip

Skeletal Spine:
scoliosis (in some patients)

Skeletal Feet:
broad great toes

Skeletal Skull:
delayed closure of fontanels


Clinical features from OMIM:

300855

Human phenotypes related to Ogden Syndrome:

59 32 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
2 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
3 scoliosis 59 32 occasional (7.5%) Frequent (79-30%) HP:0002650
4 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
5 coarse facial features 59 32 occasional (7.5%) Occasional (29-5%) HP:0000280
6 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
9 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
10 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
11 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
12 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
13 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
14 underdeveloped nasal alae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000430
15 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
16 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
17 fine hair 59 32 occasional (7.5%) Frequent (79-30%) HP:0002213
18 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
19 lethargy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001254
20 everted upper lip vermilion 59 32 occasional (7.5%) Occasional (29-5%) HP:0010803
21 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
22 pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004415
23 microretrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000308
24 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
25 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
26 shuffling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002362
27 autistic behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000729
28 delayed gross motor development 59 32 occasional (7.5%) Occasional (29-5%) HP:0002194
29 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
30 short columella 59 32 occasional (7.5%) Occasional (29-5%) HP:0002000
31 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
32 excessive daytime somnolence 59 32 frequent (33%) Frequent (79-30%) HP:0001262
33 abnormal head movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0002457
34 broad hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010055
35 narrow forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000341
36 cutis laxa 59 32 occasional (7.5%) Occasional (29-5%) HP:0000973
37 enlarged naris 59 32 occasional (7.5%) Occasional (29-5%) HP:0009931
38 capillary malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0025104
39 cardiogenic shock 59 32 occasional (7.5%) Occasional (29-5%) HP:0030149
40 high palate 32 HP:0000218
41 behavioral abnormality 59 Occasional (29-5%)
42 depressed nasal bridge 32 HP:0005280
43 abnormality of the dentition 32 HP:0000164
44 wide nasal bridge 32 HP:0000431
45 microcephaly 32 HP:0000252
46 short stature 32 HP:0004322
47 stereotypy 32 HP:0000733
48 prominent forehead 32 HP:0011220
49 epicanthus 32 HP:0000286
50 atrial septal defect 32 HP:0001631

GenomeRNAi Phenotypes related to Ogden Syndrome according to GeneCards Suite gene sharing:

26 (show all 30)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.49 EHMT1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-101 10.49 SAE1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.49 EHMT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.49 SAE1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.49 NAA15
6 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.49 EHMT1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.49 SAE1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.49 EHMT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.49 NAA15
10 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.49 SAE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.49 EHMT1 NAA15 PSMC5 NAA10
12 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.49 EHMT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.49 EHMT1 NAA15
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.49 PSMC5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.49 SAE1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.49 PSMC5
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.49 NAA15
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.49 EHMT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.49 NAA15
20 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.49 PSMC5
21 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.49 EHMT1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.49 NAA10
23 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.49 PSMC5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.49 NAA15 PSMC5 SAE1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-6 10.49 NAA15
26 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.49 NAA10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.49 EHMT1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.49 NAA10
29 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.49 PSMC5 NAA10
30 Synthetic lethal with Ras GR00018-A-0 8.92 NAA10 NAA15 PSMC5 SAE1

Drugs & Therapeutics for Ogden Syndrome

Search Clinical Trials , NIH Clinical Center for Ogden Syndrome

Genetic Tests for Ogden Syndrome

Genetic tests related to Ogden Syndrome:

# Genetic test Affiliating Genes
1 N-Terminal Acetyltransferase Deficiency 29 NAA10

Anatomical Context for Ogden Syndrome

MalaCards organs/tissues related to Ogden Syndrome:

41
Skin, Eye, Lung

Publications for Ogden Syndrome

Articles related to Ogden Syndrome:

# Title Authors Year
1
Clinical Manifestations Associated With the N-Terminal-Acetyltransferase NAA10 Gene Mutation in a Girl: Ogden Syndrome. ( 28967461 )
2017
2
Proteomic and genomic characterization of a yeast model for Ogden syndrome. ( 27668839 )
2017
3
A Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutant. ( 24408909 )
2014

Variations for Ogden Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Ogden Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 NAA10 p.Ser37Pro VAR_066652 rs387906701
2 NAA10 p.Tyr43Ser VAR_075206 rs863225427

ClinVar genetic disease variations for Ogden Syndrome:

6 (show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAA10 NM_003491.3(NAA10): c.109T> C (p.Ser37Pro) single nucleotide variant Pathogenic rs387906701 GRCh37 Chromosome X, 153199841: 153199841
2 NAA10 NM_003491.3(NAA10): c.109T> C (p.Ser37Pro) single nucleotide variant Pathogenic rs387906701 GRCh38 Chromosome X, 153934388: 153934388
3 NAA10 NM_003491.3(NAA10): c.319G> T (p.Val107Phe) single nucleotide variant Pathogenic rs587780562 GRCh37 Chromosome X, 153197791: 153197791
4 NAA10 NM_003491.3(NAA10): c.319G> T (p.Val107Phe) single nucleotide variant Pathogenic rs587780562 GRCh38 Chromosome X, 153932338: 153932338
5 NAA10 NM_003491.3(NAA10): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs587780563 GRCh37 Chromosome X, 153197564: 153197564
6 NAA10 NM_003491.3(NAA10): c.346C> T (p.Arg116Trp) single nucleotide variant Pathogenic rs587780563 GRCh38 Chromosome X, 153932111: 153932111
7 NAA10 NM_003491.3(NAA10): c.247C> T (p.Arg83Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs797044868 GRCh37 Chromosome X, 153197863: 153197863
8 NAA10 NM_003491.3(NAA10): c.247C> T (p.Arg83Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs797044868 GRCh38 Chromosome X, 153932410: 153932410
9 NAA10 NM_003491.3(NAA10): c.128A> C (p.Tyr43Ser) single nucleotide variant Pathogenic rs863225427 GRCh37 Chromosome X, 153199447: 153199447
10 NAA10 NM_003491.3(NAA10): c.128A> C (p.Tyr43Ser) single nucleotide variant Pathogenic rs863225427 GRCh38 Chromosome X, 153933994: 153933994
11 NAA10 NM_003491.3(NAA10): c.384T> A (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh37 Chromosome X, 153197526: 153197526
12 NAA10 NM_003491.3(NAA10): c.384T> A (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh38 Chromosome X, 153932073: 153932073
13 NAA10 NM_003491.3(NAA10): c.382T> A (p.Phe128Ile) single nucleotide variant Pathogenic rs878853264 GRCh38 Chromosome X, 153932075: 153932075
14 NAA10 NM_003491.3(NAA10): c.382T> A (p.Phe128Ile) single nucleotide variant Pathogenic rs878853264 GRCh37 Chromosome X, 153197528: 153197528
15 Pathogenic undetermined variant 0 rsRCV000225363 236260
16 NAA10 NM_003491.3(NAA10): c.384T> G (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh37 Chromosome X, 153197526: 153197526
17 NAA10 NM_003491.3(NAA10): c.384T> G (p.Phe128Leu) single nucleotide variant Pathogenic rs878853263 GRCh38 Chromosome X, 153932073: 153932073
18 NAA10 NM_003491.3(NAA10): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs1057519448 GRCh38 Chromosome X, 153932549: 153932549
19 NAA10 NM_003491.3(NAA10): c.215T> C (p.Ile72Thr) single nucleotide variant Pathogenic rs1057519448 GRCh37 Chromosome X, 153198002: 153198002
20 NAA10 NM_003491.3(NAA10): c.361C> G (p.Leu121Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 153197549: 153197549
21 NAA10 NM_003491.3(NAA10): c.361C> G (p.Leu121Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 153932096: 153932096
22 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 153197851: 153197851
23 NAA10 NM_003491.3(NAA10): c.259G> T (p.Ala87Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 153932398: 153932398
24 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153197778: 153197778
25 NAA10 NM_003491.3(NAA10): c.332T> G (p.Val111Gly) single nucleotide variant Pathogenic GRCh38 Chromosome X, 153932325: 153932325
26 NAA10 NM_003491.3(NAA10): c.494_495del (p.Lys165Argfs) deletion Pathogenic GRCh37 Chromosome X, 153195652: 153195654
27 NAA10 NM_003491.3(NAA10): c.494_495del (p.Lys165Argfs) deletion Pathogenic GRCh38 Chromosome X, 153930200: 153930201

Expression for Ogden Syndrome

Search GEO for disease gene expression data for Ogden Syndrome.

Pathways for Ogden Syndrome

GO Terms for Ogden Syndrome

Cellular components related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.43 EHMT1 NAA10 NAA15 PSMC5 RBM7 SAE1
2 NatA complex GO:0031415 8.62 NAA10 NAA15

Biological processes related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 N-terminal protein amino acid acetylation GO:0006474 8.62 NAA10 NAA15

Molecular functions related to Ogden Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribosome binding GO:0043022 9.16 NAA10 NAA15
2 acetyltransferase activity GO:0016407 8.96 NAA10 NAA15
3 peptide alpha-N-acetyltransferase activity GO:0004596 8.62 NAA10 NAA15

Sources for Ogden Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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