ALKKUCS
MCID: ALK024
MIFTS: 31

Alkuraya-Kucinskas Syndrome (ALKKUCS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Alkuraya-Kucinskas Syndrome

MalaCards integrated aliases for Alkuraya-Kucinskas Syndrome:

Name: Alkuraya-Kucinskas Syndrome 58 76 6
Arthrogryposis 45 74
Alkkucs 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
most affected individuals die in utero or soon after birth


HPO:

33
alkuraya-kucinskas syndrome:
Onset and clinical course congenital onset


Classifications:



Summaries for Alkuraya-Kucinskas Syndrome

UniProtKB/Swiss-Prot : 76 Alkuraya-Kucinskas syndrome: An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features.

MalaCards based summary : Alkuraya-Kucinskas Syndrome, also known as arthrogryposis, is related to distal arthrogryposis and arthrogryposis, distal, type 1a, and has symptoms including muscle weakness, arthralgia and myalgia. An important gene associated with Alkuraya-Kucinskas Syndrome is KIAA1109 (KIAA1109). Affiliated tissues include brain, bone and eye, and related phenotypes are seizures and pericardial effusion

OMIM : 58 ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018). (617822)

Related Diseases for Alkuraya-Kucinskas Syndrome

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

(show top 50) (show all 296)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 12.7
2 arthrogryposis, distal, type 1a 12.6
3 arthrogryposis multiplex congenita, neurogenic type 12.6
4 arthrogryposis, distal, type 5 12.6
5 arthrogryposis, distal, type 2b1 12.6
6 arthrogryposis, renal dysfunction, and cholestasis 1 12.5
7 arthrogryposis, distal, type 5d 12.5
8 arthrogryposis, distal, type 3 12.5
9 congenital arthrogryposis with anterior horn cell disease 12.5
10 arthrogryposis, distal, type 2a 12.5
11 arthrogryposis, renal dysfunction, and cholestasis 2 12.4
12 arthrogryposis, mental retardation, and seizures 12.4
13 arthrogryposis, perthes disease, and upward gaze palsy 12.4
14 muscular dystrophy, congenital, producing arthrogryposis 12.4
15 arthrogryposis, distal, with impaired proprioception and touch 12.4
16 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.3
17 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.3
18 arthrogryposis, distal, type 4 12.3
19 arthrogryposis, distal, type 8 12.3
20 arthrogryposis, distal, type 7 12.3
21 arthrogryposis, distal, type 1b 12.3
22 arthrogryposis, distal, type 9 12.3
23 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.2
24 arthrogryposis, distal, type 6 12.2
25 malignant hyperthermia arthrogryposis torticollis 12.2
26 arthrogryposis-like hand anomaly and sensorineural deafness 12.2
27 arthrogryposis, distal, type 2b2 12.2
28 pelvic dysplasia arthrogryposis of lower limbs 12.2
29 spinal muscular atrophy, x-linked 2 12.2
30 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.2
31 arthrogryposis, distal, type 2b3 12.2
32 arthrogryposis and ectodermal dysplasia 12.1
33 arthrogryposis multiplex congenita whistling face 12.1
34 neuropathy, congenital, with arthrogryposis multiplex 12.1
35 autosomal recessive myogenic arthrogryposis multiplex congenita 12.1
36 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.1
37 fetal akinesia deformation sequence 1 12.1
38 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.0
39 arthrogryposis, congenital, lower limb, x-linked 12.0
40 bruck syndrome 1 12.0
41 arthrogryposis, distal, type 10 12.0
42 arthrogryposis epileptic seizures migrational brain disorder 12.0
43 minicore myopathy, antenatal onset, with arthrogryposis 12.0
44 arthrogryposis with hyperkeratosis 11.9
45 pelvic hypoplasia with lower-limb arthrogryposis 11.9
46 arthrogryposis, distal, type 2e 11.9
47 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.9
48 arthrogryposis, distal, with mental retardation and characteristic facies 11.9
49 arthrogryposis iugr thoracic dystrophy 11.9
50 arthrogryposis multiplex congenita cns calcification 11.9

Graphical network of the top 20 diseases related to Alkuraya-Kucinskas Syndrome:



Diseases related to Alkuraya-Kucinskas Syndrome

Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

Human phenotypes related to Alkuraya-Kucinskas Syndrome:

33 (show all 40)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 pericardial effusion 33 very rare (1%) HP:0001698
3 hypertelorism 33 HP:0000316
4 low-set ears 33 HP:0000369
5 clinodactyly 33 HP:0030084
6 hydrocephalus 33 HP:0000238
7 intellectual disability 33 HP:0001249
8 cataract 33 HP:0000518
9 global developmental delay 33 HP:0001263
10 depressed nasal bridge 33 HP:0005280
11 short nose 33 HP:0003196
12 anteverted nares 33 HP:0000463
13 edema 33 HP:0000969
14 strabismus 33 HP:0000486
15 absent speech 33 HP:0001344
16 webbed neck 33 HP:0000465
17 cystic hygroma 33 HP:0000476
18 ventriculomegaly 33 HP:0002119
19 talipes equinovarus 33 HP:0001762
20 cerebellar hypoplasia 33 HP:0001321
21 upslanted palpebral fissure 33 HP:0000582
22 adducted thumb 33 HP:0001181
23 hypotelorism 33 HP:0000601
24 aplasia/hypoplasia of the corpus callosum 33 HP:0007370
25 micropenis 33 HP:0000054
26 generalized hypotonia 33 HP:0001290
27 oculomotor apraxia 33 HP:0000657
28 scrotal hypoplasia 33 HP:0000046
29 cerebellar dysplasia 33 HP:0007033
30 overlapping fingers 33 HP:0010557
31 hand clenching 33 HP:0001188
32 posteriorly rotated ears 33 HP:0000358
33 camptodactyly 33 HP:0012385
34 lissencephaly 33 HP:0001339
35 hypermetropia 33 HP:0000540
36 cutaneous syndactyly 33 HP:0012725
37 overlapping toe 33 HP:0001845
38 hypoplasia of the brainstem 33 HP:0002365
39 kinked brainstem 33 HP:0012793
40 gray matter heterotopia 33 HP:0002282

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

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

Neurologic Central Nervous System:
hydrocephalus
intellectual disability
cerebellar hypoplasia
cerebellar dysplasia
lissencephaly
more
Muscle Soft Tissue:
edema
hypotonia

Skeletal Skull:
plagiocephaly

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

Head And Neck Face:
retrognathism

Respiratory:
breathing difficulties, neonatal

Respiratory Lung:
pleural effusions (in some patients)

Head And Neck Eyes:
hypertelorism
strabismus
hypotelorism
oculomotor apraxia
hypermetropia
more
Skeletal Hands:
clinodactyly
overlapping fingers
camptodactyly
adducted thumbs
clenched hands

Head And Neck Nose:
short nose
anteverted nares
flattened nasal bridge

Head And Neck Neck:
webbed neck
cystic hygroma

Skeletal Feet:
cutaneous syndactyly
overlapping toes
foot deformities
club feet

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Skeletal:
arthrogryposis

Cardiovascular Heart:
cardiac defects (in some patients)
pericardial effusions (in some patients)

Genitourinary Kidneys:
renal defects (in some patients)

Skeletal Limbs:
flexion deformities

Clinical features from OMIM:

617822

UMLS symptoms related to Alkuraya-Kucinskas Syndrome:


muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

Search Clinical Trials , NIH Clinical Center for Alkuraya-Kucinskas Syndrome

Cochrane evidence based reviews: arthrogryposis

Genetic Tests for Alkuraya-Kucinskas Syndrome

Anatomical Context for Alkuraya-Kucinskas Syndrome

MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

42
Brain, Bone, Eye, Liver, Colon, Heart, Spinal Cord

Publications for Alkuraya-Kucinskas Syndrome

Articles related to Alkuraya-Kucinskas Syndrome:

# Title Authors Year
1
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. ( 29290337 )
2018
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ( 25558065 )
2015

Variations for Alkuraya-Kucinskas Syndrome

ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
2 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh37 Chromosome 4, 123128323: 123128323
3 KIAA1109 NM_015312.3(KIAA1109): c.3986A> G (p.Tyr1329Cys) single nucleotide variant Pathogenic rs770791100 GRCh38 Chromosome 4, 122239668: 122239668
4 KIAA1109 NM_015312.3(KIAA1109): c.3986A> G (p.Tyr1329Cys) single nucleotide variant Pathogenic rs770791100 GRCh37 Chromosome 4, 123160823: 123160823
5 KIAA1109 NM_015312.3(KIAA1109): c.5599G> A (p.Val1867Met) single nucleotide variant Pathogenic rs1554025656 GRCh38 Chromosome 4, 122249571: 122249571
6 KIAA1109 NM_015312.3(KIAA1109): c.5599G> A (p.Val1867Met) single nucleotide variant Pathogenic rs1554025656 GRCh37 Chromosome 4, 123170726: 123170726
7 KIAA1109 NM_015312.3(KIAA1109): c.3611delA (p.Asn1204Thrfs) deletion Pathogenic rs775516790 GRCh38 Chromosome 4, 122238128: 122238128
8 KIAA1109 NM_015312.3(KIAA1109): c.3611delA (p.Asn1204Thrfs) deletion Pathogenic rs775516790 GRCh37 Chromosome 4, 123159283: 123159283
9 KIAA1109 NM_015312.3(KIAA1109): c.2902C> T (p.Arg968Cys) single nucleotide variant Pathogenic rs1051597475 GRCh38 Chromosome 4, 122226815: 122226815
10 KIAA1109 NM_015312.3(KIAA1109): c.2902C> T (p.Arg968Cys) single nucleotide variant Pathogenic rs1051597475 GRCh37 Chromosome 4, 123147970: 123147970
11 KIAA1109 NM_015312.3(KIAA1109): c.10153G> C (p.Gly3385Arg) single nucleotide variant Pathogenic rs1554059454 GRCh37 Chromosome 4, 123230520: 123230520
12 KIAA1109 NM_015312.3(KIAA1109): c.10153G> C (p.Gly3385Arg) single nucleotide variant Pathogenic rs1554059454 GRCh38 Chromosome 4, 122309365: 122309365
13 KIAA1109 NM_015312.3(KIAA1109): c.439C> T (p.Arg147Cys) single nucleotide variant Uncertain significance rs779054376 GRCh37 Chromosome 4, 123107271: 123107271
14 KIAA1109 NM_015312.3(KIAA1109): c.439C> T (p.Arg147Cys) single nucleotide variant Uncertain significance rs779054376 GRCh38 Chromosome 4, 122186116: 122186116

Expression for Alkuraya-Kucinskas Syndrome

Search GEO for disease gene expression data for Alkuraya-Kucinskas Syndrome.

Pathways for Alkuraya-Kucinskas Syndrome

GO Terms for Alkuraya-Kucinskas Syndrome

Sources for Alkuraya-Kucinskas 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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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