AUKS
MCID: AKL001
MIFTS: 31

Au-Kline Syndrome (AUKS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Au-Kline Syndrome

MalaCards integrated aliases for Au-Kline Syndrome:

Name: Au-Kline Syndrome 58 25 60 76 38 30 6
Auks 58 76
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due to a Point Mutation 60
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
dysmorphic features are variable
two unrelated boys have been reported (last curated october 2015)


HPO:

33
au-kline syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance There is complete penetrance for aks for loss-of-function variants in hnrnpk. no sex- or age-related differences have been observed. there is insufficient information regarding penetrance of missense variants in hnrnpk...

Classifications:



Summaries for Au-Kline Syndrome

UniProtKB/Swiss-Prot : 76 Au-Kline syndrome: A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features.

MalaCards based summary : Au-Kline Syndrome, also known as auks, is related to neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion and hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation. An important gene associated with Au-Kline Syndrome is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and mRNA Splicing - Major Pathway. Affiliated tissues include tongue, skin and bone, and related phenotypes are pectus excavatum and high palate

Description from OMIM: 616580
GeneReviews: NBK540283

Related Diseases for Au-Kline Syndrome

Diseases related to Au-Kline Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 12.8
2 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 10.3

Symptoms & Phenotypes for Au-Kline Syndrome

Human phenotypes related to Au-Kline Syndrome:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 33 HP:0000767
2 high palate 33 HP:0000218
3 ptosis 33 HP:0000508
4 intellectual disability 33 HP:0001249
5 constipation 33 HP:0002019
6 scoliosis 33 HP:0002650
7 global developmental delay 33 HP:0001263
8 hip dysplasia 33 HP:0001385
9 microtia 33 HP:0008551
10 feeding difficulties 33 HP:0011968
11 dolichocephaly 33 HP:0000268
12 cryptorchidism 33 HP:0000028
13 wide intermamillary distance 33 HP:0006610
14 thickened nuchal skin fold 33 HP:0000474
15 inverted nipples 33 HP:0003186
16 underdeveloped nasal alae 33 HP:0000430
17 downslanted palpebral fissures 33 HP:0000494
18 open mouth 33 HP:0000194
19 downturned corners of mouth 33 HP:0002714
20 long face 33 HP:0000276
21 sacral dimple 33 HP:0000960
22 long palpebral fissure 33 HP:0000637
23 craniosynostosis 33 HP:0001363
24 sparse lateral eyebrow 33 HP:0005338
25 generalized hypotonia 33 HP:0001290
26 oligodontia 33 HP:0000677
27 poor speech 33 HP:0002465
28 overlapping toe 33 HP:0001845
29 wide nasal ridge 33 HP:0012811
30 postaxial polydactyly 33 HP:0100259

Symptoms via clinical synopsis from OMIM:

58
Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
high pain tolerance
nodular heterotopia (in 1 patient)

Skeletal Spine:
scoliosis
vertebral segmentation defects

Head And Neck Mouth:
cleft palate
open mouth
high-arched palate
downturned mouth
midline crease of tongue

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Face:
long face

Skeletal Skull:
craniosynostosis
ridged metopic suture

Head And Neck Teeth:
oligodontia

Skeletal Hands:
postaxial polydactyly
deep palmar creases

Cardiovascular Heart:
aortic root dilation
cardiac malformations

Head And Neck Ears:
underdeveloped ears

Head And Neck Eyes:
ptosis
downslanting palpebral fissures
sparse lateral eyebrows
long palpebral fissures

Abdomen Gastrointestinal:
constipation
feeding difficulties

Skeletal Pelvis:
hip dysplasia

Head And Neck Head:
dolichocephaly

Chest Breasts:
inverted nipples
widely spaced nipples

Skin Nails Hair Skin:
sacral dimple
deep palmar and plantar creases

Skeletal Feet:
deep plantar creases
overlapping toes

Head And Neck Nose:
wide nasal ridge
hypoplastic nasal alae
dimple at the nasal tip

Muscle Soft Tissue:
hypotonia

Head And Neck Neck:
excess nuchal skin

Clinical features from OMIM:

616580

Drugs & Therapeutics for Au-Kline Syndrome

Search Clinical Trials , NIH Clinical Center for Au-Kline Syndrome

Genetic Tests for Au-Kline Syndrome

Genetic tests related to Au-Kline Syndrome:

# Genetic test Affiliating Genes
1 Au-Kline Syndrome 30 HNRNPK

Anatomical Context for Au-Kline Syndrome

MalaCards organs/tissues related to Au-Kline Syndrome:

42
Tongue, Skin, Bone

Publications for Au-Kline Syndrome

Articles related to Au-Kline Syndrome:

(show all 17)
# Title Authors Year
1
Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation. ( 30793470 )
2019
2
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. ( 29904177 )
2018
3
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. ( 28771707 )
2017
4
An ‛Aukward' Tale: A Genetic Approach to Discover the Whereabouts of the Last Great Auks. ( 28617333 )
2017
5
Physiological constraints and dive behavior scale in tandem with body mass in auks: A comparative analysis. ( 26952335 )
2016
6
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. ( 26954065 )
2016
7
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. ( 26173930 )
2015
8
Trace element concentrations in harvested auks from Newfoundland: Toxicological risk of a traditional hunt. ( 25666730 )
2015
9
Diversity-dependent cladogenesis and trait evolution in the adaptive radiation of the auks (aves: alcidae). ( 23356613 )
2013
10
High flight costs, but low dive costs, in auks support the biomechanical hypothesis for flightlessness in penguins. ( 23690614 )
2013
11
Sympatric breeding auks shift between dietary and spatial resource partitioning across the annual cycle. ( 24023663 )
2013
12
The feeding ecology of little auks raises questions about winter zooplankton stocks in North Atlantic surface waters. ( 20236962 )
2010
13
No evidence of blood parasites in Little Auks (Alle alle) breeding on Svalbard. ( 20688653 )
2010
14
Phylogeny and evolution of the auks (subfamily Alcinae) based on mitochondrial DNA sequences. ( 8058734 )
1994
15
Stable isotopic determinations of trophic relationships of great auks. ( 28313695 )
1991
16
Population dynamics of lice (Mallophaga) on auks (Alcidae) from Newfoundland. ( 974933 )
1976
17
Bionomics of Ixodes (Ceratixodes) uriae White, 1852 on auks (Alcidae) from Newfoundland. ( 1116065 )
1975

Variations for Au-Kline Syndrome

ClinVar genetic disease variations for Au-Kline Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 HNRNPK NM_002140.4(HNRNPK): c.953+1dupG duplication Pathogenic rs863223402 GRCh37 Chromosome 9, 86586796: 86586796
2 HNRNPK NM_002140.4(HNRNPK): c.953+1dupG duplication Pathogenic rs863223402 GRCh38 Chromosome 9, 83971881: 83971881
3 HNRNPK NM_002140.4(HNRNPK): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic/Likely pathogenic rs863223403 GRCh37 Chromosome 9, 86590377: 86590377
4 HNRNPK NM_002140.4(HNRNPK): c.257G> A (p.Arg86His) single nucleotide variant Pathogenic/Likely pathogenic rs863223403 GRCh38 Chromosome 9, 83975462: 83975462
5 HNRNPK NM_002140.4(HNRNPK): c.931_932insTT (p.Pro311Leufs) insertion Pathogenic rs879255263 GRCh38 Chromosome 9, 83971903: 83971904
6 HNRNPK NM_002140.4(HNRNPK): c.931_932insTT (p.Pro311Leufs) insertion Pathogenic rs879255263 GRCh37 Chromosome 9, 86586818: 86586819
7 HNRNPK NM_002140.4(HNRNPK): c.779dupG (p.Asp262Terfs) duplication Pathogenic rs886041807 GRCh37 Chromosome 9, 86586971: 86586971
8 HNRNPK NM_002140.4(HNRNPK): c.779dupG (p.Asp262Terfs) duplication Pathogenic rs886041807 GRCh38 Chromosome 9, 83972056: 83972056
9 HNRNPK NM_002140.4(HNRNPK): c.1008+1G> A single nucleotide variant Pathogenic rs1554698658 GRCh37 Chromosome 9, 86586586: 86586586
10 HNRNPK NM_002140.4(HNRNPK): c.1008+1G> A single nucleotide variant Pathogenic rs1554698658 GRCh38 Chromosome 9, 83971671: 83971671
11 HNRNPK NM_002140.4(HNRNPK): c.253G> A (p.Glu85Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1554700678 GRCh37 Chromosome 9, 86590381: 86590381
12 HNRNPK NM_002140.4(HNRNPK): c.253G> A (p.Glu85Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1554700678 GRCh38 Chromosome 9, 83975466: 83975466
13 HNRNPK NM_002140.4(HNRNPK): c.1094delG (p.Gly365Valfs) deletion Pathogenic rs1554698213 GRCh38 Chromosome 9, 83970911: 83970911
14 HNRNPK NM_002140.4(HNRNPK): c.1094delG (p.Gly365Valfs) deletion Pathogenic rs1554698213 GRCh37 Chromosome 9, 86585826: 86585826
15 HNRNPK NM_002140.4(HNRNPK): c.1009delG (p.Val337Leufs) deletion Pathogenic rs1554698470 GRCh37 Chromosome 9, 86586271: 86586271
16 HNRNPK NM_002140.4(HNRNPK): c.1009delG (p.Val337Leufs) deletion Pathogenic rs1554698470 GRCh38 Chromosome 9, 83971356: 83971356
17 HNRNPK NM_002140.4(HNRNPK): c.998dup (p.Tyr333Terfs) duplication Pathogenic rs1554698681 GRCh37 Chromosome 9, 86586597: 86586597
18 HNRNPK NM_002140.4(HNRNPK): c.998dup (p.Tyr333Terfs) duplication Pathogenic rs1554698681 GRCh38 Chromosome 9, 83971682: 83971682
19 HNRNPK NM_002140.4(HNRNPK): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554698878 GRCh37 Chromosome 9, 86586891: 86586891
20 HNRNPK NM_002140.4(HNRNPK): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554698878 GRCh38 Chromosome 9, 83971976: 83971976
21 HNRNPK NM_031262.3(HNRNPK): c.214-35A> G single nucleotide variant Likely pathogenic rs1554700718 GRCh37 Chromosome 9, 86590455: 86590455
22 HNRNPK NM_031262.3(HNRNPK): c.214-35A> G single nucleotide variant Likely pathogenic rs1554700718 GRCh38 Chromosome 9, 83975540: 83975540
23 HNRNPK NM_002140.4(HNRNPK): c.646-1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 86587105: 86587105
24 HNRNPK NM_002140.4(HNRNPK): c.646-1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 83972190: 83972190
25 HNRNPK NM_002140.4(HNRNPK): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 83973338: 83973338
26 HNRNPK NM_002140.4(HNRNPK): c.464T> C (p.Leu155Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 86588253: 86588253

Expression for Au-Kline Syndrome

Search GEO for disease gene expression data for Au-Kline Syndrome.

Pathways for Au-Kline Syndrome

Pathways related to Au-Kline Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 HNRNPK MIR7-1
2
Show member pathways
12.11 HNRNPK MIR7-1
3
Show member pathways
11.49 HNRNPK MIR7-1
4 11.1 HNRNPK MIR7-1

GO Terms for Au-Kline Syndrome

Sources for Au-Kline Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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