MCID: AKL001
MIFTS: 22

Au-Kline Syndrome

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

Aliases & Classifications for Au-Kline Syndrome

MalaCards integrated aliases for Au-Kline Syndrome:

Name: Au-Kline Syndrome 57 59 75 37 6
Auks 57 75
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome Due to a Point Mutation 59
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Hip Dysplasia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide);
neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
au-kline syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Au-Kline Syndrome

UniProtKB/Swiss-Prot : 75 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-hip dysplasia syndrome due to 9q21 microdeletion. An important gene associated with Au-Kline Syndrome is HNRNPK (Heterogeneous Nuclear Ribonucleoprotein K). Affiliated tissues include tongue, skin and bone, and related phenotypes are pectus excavatum and high palate

Description from OMIM: 616580

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-hip dysplasia syndrome due to 9q21 microdeletion 12.6

Symptoms & Phenotypes for Au-Kline Syndrome

Symptoms via clinical synopsis from OMIM:

57
Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
intellectual disability
poor speech
delayed psychomotor development
high pain tolerance

Skeletal Spine:
scoliosis
vertebral segmentation defects

Head And Neck Head:
dolichocephaly

Chest Breasts:
inverted nipples
widely spaced nipples

Head And Neck Face:
long face

Skeletal Skull:
craniosynostosis
ridged metopic suture

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

Muscle Soft Tissue:
hypotonia

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

Genitourinary External Genitalia Male:
cryptorchidism

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

Skin Nails Hair Skin:
sacral dimple

Head And Neck Teeth:
oligodontia

Skeletal Hands:
postaxial polydactyly

Skeletal Feet:
overlapping toes

Head And Neck Neck:
excess nuchal skin


Clinical features from OMIM:

616580

Human phenotypes related to Au-Kline Syndrome:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 HP:0000767
2 high palate 32 HP:0000218
3 ptosis 32 HP:0000508
4 intellectual disability 32 HP:0001249
5 constipation 32 HP:0002019
6 scoliosis 32 HP:0002650
7 global developmental delay 32 HP:0001263
8 hip dysplasia 32 HP:0001385
9 microtia 32 HP:0008551
10 feeding difficulties 32 HP:0011968
11 dolichocephaly 32 HP:0000268
12 cryptorchidism 32 HP:0000028
13 wide intermamillary distance 32 HP:0006610
14 thickened nuchal skin fold 32 HP:0000474
15 inverted nipples 32 HP:0003186
16 underdeveloped nasal alae 32 HP:0000430
17 downslanted palpebral fissures 32 HP:0000494
18 open mouth 32 HP:0000194
19 downturned corners of mouth 32 HP:0002714
20 long face 32 HP:0000276
21 sacral dimple 32 HP:0000960
22 long palpebral fissure 32 HP:0000637
23 craniosynostosis 32 HP:0001363
24 sparse lateral eyebrow 32 HP:0005338
25 generalized hypotonia 32 HP:0001290
26 oligodontia 32 HP:0000677
27 poor speech 32 HP:0002465
28 overlapping toe 32 HP:0001845
29 wide nasal ridge 32 HP:0012811
30 postaxial polydactyly 32 HP:0100259

Drugs & Therapeutics for Au-Kline Syndrome

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

Genetic Tests for Au-Kline Syndrome

Anatomical Context for Au-Kline Syndrome

MalaCards organs/tissues related to Au-Kline Syndrome:

41
Tongue, Skin, Bone

Publications for Au-Kline Syndrome

Variations for Au-Kline Syndrome

ClinVar genetic disease variations for Au-Kline Syndrome:

6
(show all 22)
# 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 rs863223403 GRCh37 Chromosome 9, 86590377: 86590377
4 HNRNPK NM_002140.4(HNRNPK): c.257G> A (p.Arg86His) single nucleotide variant 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 GRCh37 Chromosome 9, 86586586: 86586586
10 HNRNPK NM_002140.4(HNRNPK): c.1008+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 9, 83971671: 83971671
11 HNRNPK NM_002140.4(HNRNPK): c.253G> A (p.Glu85Lys) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 9, 83975466: 83975466
12 HNRNPK NM_002140.4(HNRNPK): c.253G> A (p.Glu85Lys) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 9, 86590381: 86590381
13 HNRNPK NM_002140.4(HNRNPK): c.1094delG (p.Gly365Valfs) deletion Pathogenic GRCh38 Chromosome 9, 83970911: 83970911
14 HNRNPK NM_002140.4(HNRNPK): c.1094delG (p.Gly365Valfs) deletion Pathogenic GRCh37 Chromosome 9, 86585826: 86585826
15 HNRNPK NM_002140.4(HNRNPK): c.1009delG (p.Val337Leufs) deletion Pathogenic GRCh37 Chromosome 9, 86586271: 86586271
16 HNRNPK NM_002140.4(HNRNPK): c.1009delG (p.Val337Leufs) deletion Pathogenic GRCh38 Chromosome 9, 83971356: 83971356
17 HNRNPK NM_002140.4(HNRNPK): c.998dup (p.Tyr333Terfs) duplication Pathogenic GRCh37 Chromosome 9, 86586597: 86586597
18 HNRNPK NM_002140.4(HNRNPK): c.998dup (p.Tyr333Terfs) duplication Pathogenic GRCh38 Chromosome 9, 83971682: 83971682
19 HNRNPK NM_002140.4(HNRNPK): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 9, 86586891: 86586891
20 HNRNPK NM_002140.4(HNRNPK): c.859C> T (p.Arg287Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 9, 83971976: 83971976
21 HNRNPK NM_031262.3(HNRNPK): c.214-35A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 86590455: 86590455
22 HNRNPK NM_031262.3(HNRNPK): c.214-35A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 83975540: 83975540

Expression for Au-Kline Syndrome

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

Pathways for Au-Kline Syndrome

GO Terms for Au-Kline Syndrome

Sources for Au-Kline 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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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