MCID: ALK023
MIFTS: 19

Al Kaissi Syndrome

Categories: Genetic diseases

Aliases & Classifications for Al Kaissi Syndrome

MalaCards integrated aliases for Al Kaissi Syndrome:

Name: Al Kaissi Syndrome 57 75 6
Growth Retardation, Spine Malformation, Dysmorphic Facies, and Developmental Delay 57 75
Alkas 57 75
Abnormalities, Multiple 44

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
al kaissi syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Al Kaissi Syndrome

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)

MalaCards based summary : Al Kaissi Syndrome, also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay, is related to erdheim-chester disease and poems syndrome. An important gene associated with Al Kaissi Syndrome is CDK10 (Cyclin Dependent Kinase 10). Related phenotypes are brachycephaly and epicanthus

UniProtKB/Swiss-Prot : 75 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 erdheim-chester disease 10.5
2 poems syndrome 9.3
3 essential thrombocythemia 9.3

Symptoms & Phenotypes for Al Kaissi Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Al Kaissi Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 32 very rare (1%) HP:0000248
2 epicanthus 32 very rare (1%) HP:0000286
3 pointed chin 32 very rare (1%) HP:0000307
4 smooth philtrum 32 very rare (1%) HP:0000319
5 triangular face 32 very rare (1%) HP:0000325
6 short chin 32 very rare (1%) HP:0000331
7 long philtrum 32 very rare (1%) HP:0000343
8 posteriorly rotated ears 32 very rare (1%) HP:0000358
9 low-set ears 32 very rare (1%) HP:0000369
10 wide nasal bridge 32 very rare (1%) HP:0000431
11 broad nasal tip 32 very rare (1%) HP:0000455
12 downslanted palpebral fissures 32 very rare (1%) HP:0000494
13 telecanthus 32 very rare (1%) HP:0000506
14 intellectual disability 32 very rare (1%) HP:0001249
15 macrodontia 32 very rare (1%) HP:0001572
16 high, narrow palate 32 very rare (1%) HP:0002705
17 short stature 32 HP:0004322
18 decreased body weight 32 HP:0004325
19 depressed nasal bridge 32 very rare (1%) HP:0005280
20 deep palmar crease 32 very rare (1%) HP:0006191
21 nevus flammeus of the forehead 32 very rare (1%) HP:0007413
22 malar rash 32 very rare (1%) HP:0025300
23 decreased head circumference 32 HP:0040195
24 small hand 32 very rare (1%) HP:0200055

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

Publications for Al Kaissi Syndrome

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 GRCh37 Chromosome 16, 89755711: 89755711
5 CDK10 NM_052988.4(CDK10): c.139delG (p.Glu47Argfs) deletion Pathogenic 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 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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