ALKAS
MCID: ALK023
MIFTS: 28

Al Kaissi Syndrome (ALKAS)

Categories: Genetic diseases

Aliases & Classifications for Al Kaissi Syndrome

MalaCards integrated aliases for Al Kaissi Syndrome:

Name: Al Kaissi Syndrome 57 72 36 6
Growth Retardation, Spine Malformation, Dysmorphic Facies, and Developmental Delay 57 72
Alkas 57 72
Abnormalities, Multiple 44

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
al kaissi syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Al Kaissi Syndrome

KEGG : 36 Al Kaissi syndrome (ALKAS) is an autosomal recessive syndrome characterized by growth retardation, spine malformation, facial dysmorphism, and developmental delay. It has been reported that affected individuals harbor mutations in CDK10. CDK10 is a protein kinase that partners with cyclin M to phosphorylate substrates such as ETS2 and PKN2 in order to modulate cellular growth.

MalaCards based summary : Al Kaissi Syndrome, also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay, is related to larsen syndrome and lentigines. An important gene associated with Al Kaissi Syndrome is CDK10 (Cyclin Dependent Kinase 10). The drugs Salicylic acid and Emollients have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are intellectual disability and depressed nasal bridge

OMIM® : 57 Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017). (617694) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Al Kaissi syndrome: An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay.

Related Diseases for Al Kaissi Syndrome

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

# Related Disease Score Top Affiliating Genes
1 larsen syndrome 10.8
2 lentigines 9.6
3 alopecia 9.6

Symptoms & Phenotypes for Al Kaissi Syndrome

Human phenotypes related to Al Kaissi Syndrome:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 depressed nasal bridge 31 very rare (1%) HP:0005280
3 wide nasal bridge 31 very rare (1%) HP:0000431
4 smooth philtrum 31 very rare (1%) HP:0000319
5 brachycephaly 31 very rare (1%) HP:0000248
6 low-set ears 31 very rare (1%) HP:0000369
7 high, narrow palate 31 very rare (1%) HP:0002705
8 epicanthus 31 very rare (1%) HP:0000286
9 atrial septal defect 31 very rare (1%) HP:0001631
10 downslanted palpebral fissures 31 very rare (1%) HP:0000494
11 long philtrum 31 very rare (1%) HP:0000343
12 telecanthus 31 very rare (1%) HP:0000506
13 pointed chin 31 very rare (1%) HP:0000307
14 small hand 31 very rare (1%) HP:0200055
15 triangular face 31 very rare (1%) HP:0000325
16 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
17 deep palmar crease 31 very rare (1%) HP:0006191
18 macrodontia 31 very rare (1%) HP:0001572
19 posteriorly rotated ears 31 very rare (1%) HP:0000358
20 nevus flammeus of the forehead 31 very rare (1%) HP:0007413
21 broad nasal tip 31 very rare (1%) HP:0000455
22 short chin 31 very rare (1%) HP:0000331
23 malar rash 31 very rare (1%) HP:0025300
24 seizure 31 very rare (1%) HP:0001250
25 global developmental delay 31 HP:0001263
26 hypertelorism 31 HP:0000316
27 delayed speech and language development 31 HP:0000750
28 pes planus 31 HP:0001763
29 microcephaly 31 HP:0000252
30 short stature 31 HP:0004322
31 intrauterine growth retardation 31 HP:0001511
32 postnatal growth retardation 31 HP:0008897
33 hemivertebrae 31 HP:0002937
34 thin upper lip vermilion 31 HP:0000219
35 sacral dimple 31 HP:0000960
36 decreased body weight 31 HP:0004325
37 synophrys 31 HP:0000664
38 broad-based gait 31 HP:0002136
39 torticollis 31 HP:0000473
40 generalized hypotonia 31 HP:0001290
41 abnormality of the pinna 31 HP:0000377
42 clinodactyly 31 HP:0030084
43 decreased head circumference 31 HP:0040195

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
depressed nasal bridge

Skeletal Feet:
pes planus

Growth Height:
short stature

Head And Neck Ears:
low-set ears
posteriorly rotated ears
abnormally shaped ears

Head And Neck Neck:
torticollis

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
wide-based gait
seizures (in some patients)
language delay
delayed psychomotor development
thin corpus callosum (in some patients)
more
Head And Neck Head:
small head circumference

Skeletal Spine:
spinal segmentation defects
c1 anterior clefting
c2-c3 fusion
sacral clefting
hemivertebrae fusion
more
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures
epicanthal folds

Head And Neck Face:
smooth philtrum
long philtrum
triangular face
small chin

Growth Other:
postnatal growth retardation
intrauterine growth retardation (iugr)

Skin Nails Hair Skin:
sacral dimple

Skeletal Hands:
clinodactyly
deep palmar creases
small hands

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

Growth Weight:
low weight

Cardiovascular Heart:
atrial septal defect (in some patients)

Clinical features from OMIM®:

617694 (Updated 20-May-2021)

Drugs & Therapeutics for Al Kaissi Syndrome

Drugs for Al Kaissi Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
2 Emollients Phase 4
3 Dermatologic Agents Phase 4

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Clinical and Dermoscopic Evaluation of Long-pulsed 1064 nm Nd-YAG Laser Versus Trichloroacetic Acid 20% in Treatment of Keratosis Pilaris Recruiting NCT04797663 Phase 4 TCA 20%
2 Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study Terminated NCT00944216 Phase 4 Salkera Emollient Foam
3 Clinical Collaborative Research of Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China Unknown status NCT03424772
4 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
5 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
6 Study on the Mnemic Functioning of Children With Kabuki Syndrome Completed NCT03547609
7 Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients Completed NCT02504502
8 Treatment of Keratosis Pilaris With 810 nm Diode Laser Completed NCT01281644
9 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
10 The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition Completed NCT00955370
11 Molecular Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877
12 Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders Completed NCT03855631
13 A Placebo-Controlled, Double-Blind, Bi-Lateral Study to Evaluate the Performance and Tolerability of a Cosmetic Product Designed to Improve the Appearance of Skin Afflicted With Keratosis Pilaris Completed NCT03243617
14 Genomic Sequencing to Aid Diagnosis in Pediatric and Prenatal Practice: Examining Clinical Utility, Ethical Implications, Payer Coverage, and Data Integration in a Diverse Population. Recruiting NCT03525431
15 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
16 Exome Sequencing of Fanconi Anemia Children and the Their Parents Available NCT01995305
17 Pilot Clinical Trial of Modified Atkins Diet for Kabuki Syndrome Not yet recruiting NCT04722315 Early Phase 1

Search NIH Clinical Center for Al Kaissi Syndrome

Cochrane evidence based reviews: abnormalities, multiple

Genetic Tests for Al Kaissi Syndrome

Anatomical Context for Al Kaissi Syndrome

MalaCards organs/tissues related to Al Kaissi Syndrome:

40
Skin

Publications for Al Kaissi Syndrome

Articles related to Al Kaissi Syndrome:

# Title Authors PMID Year
1
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. 6 57
28886341 2017
2
Biochemical characterization and mutational studies of a novel 3-methlyadenine DNA glycosylase II from the hyperthermophilic Thermococcus gammatolerans. 61
33360524 2021
3
HIP1-ALK, a novel ALK fusion variant that responds to crizotinib. 61
24496003 2014
4
Structure-function studies of an unusual 3-methyladenine DNA glycosylase II (AlkA) from Deinococcus radiodurans. 61
22683793 2012

Variations for Al Kaissi Syndrome

ClinVar genetic disease variations for Al Kaissi Syndrome:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDK10 NM_052988.5(CDK10):c.139del (p.Glu47fs) Deletion Pathogenic 440756 rs1555516716 GRCh37: 16:89755711-89755711
GRCh38: 16:89689303-89689303
2 CDK10 NM_052988.5(CDK10):c.88-870_232+368del Deletion Pathogenic 440755 GRCh37: 16:89754790-89757400
GRCh38: 16:89688382-89690992
3 CDK10 NM_052988.5(CDK10):c.609-1G>A SNV Pathogenic 440754 rs767176610 GRCh37: 16:89760580-89760580
GRCh38: 16:89694172-89694172
4 CDK10 NM_052988.5(CDK10):c.608+1G>A SNV Pathogenic 440757 rs771066826 GRCh37: 16:89759876-89759876
GRCh38: 16:89693468-89693468
5 CDK10 NM_052988.5(CDK10):c.*36G>A SNV Pathogenic 1033746 GRCh37: 16:89762136-89762136
GRCh38: 16:89695728-89695728
6 CDK10 NM_052988.5(CDK10):c.550_556del (p.Leu184fs) Deletion Likely pathogenic 813896 rs1597864006 GRCh37: 16:89759816-89759822
GRCh38: 16:89693408-89693414
7 CDK10 NM_052988.5(CDK10):c.51T>G (p.Arg17=) SNV Uncertain significance 1027754 GRCh37: 16:89753169-89753169
GRCh38: 16:89686761-89686761
8 CDK10 NM_052988.5(CDK10):c.527G>C (p.Cys176Ser) SNV Uncertain significance 1027755 GRCh37: 16:89759723-89759723
GRCh38: 16:89693315-89693315
9 CDK10 NM_052988.5(CDK10):c.661G>A (p.Asp221Asn) SNV Uncertain significance 1027756 GRCh37: 16:89760633-89760633
GRCh38: 16:89694225-89694225
10 CDK10 NM_052988.5(CDK10):c.263C>G (p.Thr88Arg) SNV Uncertain significance 1027757 GRCh37: 16:89757881-89757881
GRCh38: 16:89691473-89691473
11 CDK10 NM_052988.5(CDK10):c.1065C>A (p.Ser355Arg) SNV Uncertain significance 1027758 GRCh37: 16:89762082-89762082
GRCh38: 16:89695674-89695674
12 CDK10 NM_052988.5(CDK10):c.169C>T (p.Arg57Trp) SNV Uncertain significance 1030107 GRCh37: 16:89756969-89756969
GRCh38: 16:89690561-89690561
13 CDK10 NM_052988.5(CDK10):c.684A>G (p.Ile228Met) SNV Uncertain significance 1033747 GRCh37: 16:89761088-89761088
GRCh38: 16:89694680-89694680
14 CDK10 NM_052988.5(CDK10):c.295G>C (p.Val99Leu) SNV Uncertain significance 1033748 GRCh37: 16:89757913-89757913
GRCh38: 16:89691505-89691505

Expression for Al Kaissi Syndrome

Search GEO for disease gene expression data for Al Kaissi Syndrome.

Pathways for Al Kaissi Syndrome

GO Terms for Al Kaissi Syndrome

Sources for Al Kaissi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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