ALKAS
MCID: ALK023
MIFTS: 25

Al Kaissi Syndrome (ALKAS)

Categories: Genetic diseases

Aliases & Classifications for Al Kaissi Syndrome

MalaCards integrated aliases for Al Kaissi Syndrome:

Name: Al Kaissi Syndrome 58 76 6
Growth Retardation, Spine Malformation, Dysmorphic Facies, and Developmental Delay 58 76
Alkas 58 76
Abnormalities, Multiple 45

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

33
al kaissi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Al Kaissi Syndrome

OMIM : 58 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)

MalaCards based summary : Al Kaissi Syndrome, also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay, is related to multiple endocrine neoplasia, type iib and erdheim-chester disease. An important gene associated with Al Kaissi Syndrome is CDK10 (Cyclin Dependent Kinase 10). Affiliated tissues include bone, heart and b cells, and related phenotypes are low-set ears and intellectual disability

UniProtKB/Swiss-Prot : 76 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:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia, type iib 10.7
2 erdheim-chester disease 10.7
3 medial medullary syndrome 10.3
4 leukemia, chronic lymphocytic 2 9.4
5 lentigines 9.4
6 leukemia, chronic lymphocytic 9.4
7 williams-beuren syndrome 9.4
8 epidermodysplasia verruciformis 1 9.4
9 myeloma, multiple 9.4
10 adrenoleukodystrophy 9.4
11 alopecia 9.4
12 lymphocytic leukemia 9.4
13 nephrocalcinosis 9.4
14 macroglobulinemia 9.4
15 adrenomyeloneuropathy 9.4
16 leukemia, b-cell, chronic 9.4
17 multiple endocrine neoplasia 9.4

Graphical network of the top 20 diseases related to Al Kaissi Syndrome:



Diseases related to Al Kaissi Syndrome

Symptoms & Phenotypes for Al Kaissi Syndrome

Human phenotypes related to Al Kaissi Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures
epicanthal folds

Skeletal Hands:
clinodactyly
small hands
deep palmar creases

Skeletal Feet:
pes planus

Growth Height:
short stature

Skin Nails Hair Skin:
sacral dimple

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
wide-based gait
language delay
delayed psychomotor development
seizures (in some patients)
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 Ears:
low-set ears
posteriorly rotated ears
abnormally shaped ears

Head And Neck Nose:
depressed nasal bridge

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

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

Head And Neck Neck:
torticollis

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

Growth Weight:
low weight

Cardiovascular Heart:
atrial septal defect (in some patients)

Clinical features from OMIM:

617694

Drugs & Therapeutics for Al Kaissi Syndrome

Search Clinical Trials , 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:

42
Bone, Heart, B Cells

Publications for Al Kaissi Syndrome

Articles related to Al Kaissi Syndrome:

# Title Authors Year
1
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. ( 28886341 )
2017
2
Congenital triangular alopecia in association with congenital heart diseases, bone and teeth abnormalities, multiple lentigines and café-au-lait patches. ( 15117369 )
2004

Variations for Al Kaissi Syndrome

ClinVar genetic disease variations for Al Kaissi Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDK10 NM_052988.4(CDK10): c.609-1G> A single nucleotide variant Pathogenic rs767176610 GRCh37 Chromosome 16, 89760580: 89760580
2 CDK10 NM_052988.4(CDK10): c.609-1G> A single nucleotide variant Pathogenic rs767176610 GRCh38 Chromosome 16, 89694172: 89694172
3 CDK10 CDK10, EX2-3DEL deletion Pathogenic
4 CDK10 NM_052988.4(CDK10): c.139delG (p.Glu47Argfs) deletion Pathogenic rs1555516716 GRCh37 Chromosome 16, 89755711: 89755711
5 CDK10 NM_052988.4(CDK10): c.139delG (p.Glu47Argfs) deletion Pathogenic rs1555516716 GRCh38 Chromosome 16, 89689303: 89689303
6 CDK10 NM_052988.4(CDK10): c.608+1G> A single nucleotide variant Pathogenic rs771066826 GRCh37 Chromosome 16, 89759876: 89759876
7 CDK10 NM_052988.4(CDK10): c.608+1G> A single nucleotide variant Pathogenic rs771066826 GRCh38 Chromosome 16, 89693468: 89693468

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
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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