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ALKKUCS
MCID: ALK024
MIFTS: 38

Alkuraya-Kucinskas Syndrome (ALKKUCS)

Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Alkuraya-Kucinskas Syndrome

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Alkuraya-Kucinskas Syndrome

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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 arthrogryposis, distal, type 1a and arthrogryposis, distal, type 5, and has symptoms including muscle weakness, arthralgia and myalgia. An important gene associated with Alkuraya-Kucinskas Syndrome is KIAA1109 (KIAA1109). Affiliated tissues include brain, eye and bone, 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)

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Related Diseases for Alkuraya-Kucinskas Syndrome

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

(show top 50) (show all 269)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 12.7
2 arthrogryposis, distal, type 5 12.7
3 arthrogryposis multiplex congenita, neurogenic type 12.6
4 distal arthrogryposis 12.6
5 arthrogryposis, renal dysfunction, and cholestasis 1 12.5
6 arthrogryposis, distal, type 5d 12.5
7 arthrogryposis, distal, type 3 12.5
8 congenital arthrogryposis with anterior horn cell disease 12.4
9 arthrogryposis, perthes disease, and upward gaze palsy 12.4
10 muscular dystrophy, congenital, producing arthrogryposis 12.4
11 arthrogryposis, distal, type 2a 12.3
12 arthrogryposis, distal, type 4 12.3
13 arthrogryposis, distal, type 8 12.3
14 arthrogryposis, renal dysfunction, and cholestasis 2 12.3
15 arthrogryposis, mental retardation, and seizures 12.3
16 arthrogryposis, distal, type 1b 12.3
17 arthrogryposis, distal, with impaired proprioception and touch 12.3
18 arthrogryposis, distal, type 9 12.2
19 arthrogryposis, distal, type 7 12.2
20 arthrogryposis, distal, type 6 12.2
21 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.2
22 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.2
23 malignant hyperthermia arthrogryposis torticollis 12.2
24 arthrogryposis-like hand anomaly and sensorineural deafness 12.2
25 pelvic dysplasia arthrogryposis of lower limbs 12.2
26 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.1
27 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.1
28 arthrogryposis and ectodermal dysplasia 12.1
29 arthrogryposis multiplex congenita whistling face 12.1
30 neuropathy, congenital, with arthrogryposis multiplex 12.1
31 autosomal recessive myogenic arthrogryposis multiplex congenita 12.1
32 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.0
33 fetal akinesia deformation sequence 12.0
34 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.0
35 bruck syndrome 1 12.0
36 arthrogryposis, congenital, lower limb, x-linked 12.0
37 spinal muscular atrophy, x-linked 2 12.0
38 arthrogryposis, distal, type 10 12.0
39 arthrogryposis epileptic seizures migrational brain disorder 12.0
40 minicore myopathy, antenatal onset, with arthrogryposis 12.0
41 arthrogryposis with hyperkeratosis 11.9
42 pelvic hypoplasia with lower-limb arthrogryposis 11.9
43 arthrogryposis, distal, type 2e 11.9
44 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.9
45 arthrogryposis, distal, with mental retardation and characteristic facies 11.9
46 arthrogryposis iugr thoracic dystrophy 11.9
47 arthrogryposis multiplex congenita cns calcification 11.9
48 arthrogryposis spinal muscular atrophy 11.9
49 craniofacial dysostosis arthrogryposis progeroid appearence 11.9
50 craniosynostosis arthrogryposis cleft palate 11.9

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



Diseases related to Alkuraya-Kucinskas Syndrome
Sources

Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

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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 lissencephaly 33 HP:0001339
26 micropenis 33 HP:0000054
27 generalized hypotonia 33 HP:0001290
28 oculomotor apraxia 33 HP:0000657
29 scrotal hypoplasia 33 HP:0000046
30 cerebellar dysplasia 33 HP:0007033
31 overlapping fingers 33 HP:0010557
32 heterotopia 33 HP:0002282
33 hand clenching 33 HP:0001188
34 posteriorly rotated ears 33 HP:0000358
35 camptodactyly 33 HP:0012385
36 hypermetropia 33 HP:0000540
37 cutaneous syndactyly 33 HP:0012725
38 overlapping toe 33 HP:0001845
39 hypoplasia of the brainstem 33 HP:0002365
40 kinked brainstem 33 HP:0012793

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
lissencephaly
cerebellar dysplasia
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
Sources

Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

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

Cochrane evidence based reviews: arthrogryposis

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Genetic Tests for Alkuraya-Kucinskas Syndrome

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Anatomical Context for Alkuraya-Kucinskas Syndrome

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MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

42
Brain, Eye, Bone, Skin, Liver, Spinal Cord, Skeletal Muscle
Sources

Publications for Alkuraya-Kucinskas Syndrome

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Articles related to Alkuraya-Kucinskas Syndrome:

(show top 50) (show all 557)
# Title Authors Year
1
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. ( 30483960 )
2019
2
Intrafamilial variability of clinical features in distal arthrogryposis type 2B. ( 30216196 )
2019
3
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature. ( 30800044 )
2019
4
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. ( 30690204 )
2019
5
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings. ( 28954562 )
2019
6
Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita. ( 29894799 )
2019
7
Rehabilitation needs of youth with arthrogryposis multiplex congenita: Perspectives from key stakeholders. ( 30741031 )
2019
8
Nerve transfer from the median to musculocutaneous nerve to induce active elbow flexion in selected cases of arthrogryposis multiplex congenita. ( 30891796 )
2019
9
The Effects of Age on the Outcomes of Elbow Release in Arthrogryposis. ( 30660396 )
2019
10
Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis. ( 30672764 )
2019
11
MET mutation causes muscular dysplasia and arthrogryposis. ( 30777867 )
2019
12
Editors' note: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. ( 30910942 )
2019
13
Reader response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. ( 30910943 )
2019
14
Author response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. ( 30910944 )
2019
15
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. ( 30093463 )
2018
16
Improvement of refractory pruritus after lipoprotein-apheresis in arthrogryposis-renal failure-cholestasis syndrome. ( 29065234 )
2018
17
Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. ( 30177536 )
2018
18
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. ( 30029526 )
2018
19
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D. ( 30080694 )
2018
20
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. ( 30285720 )
2018
21
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study. ( 30578734 )
2018
22
Case-matched comparative analysis of spinal deformity correction in arthrogryposis multiplex congenita versus adolescent idiopathic scoliosis. ( 30485184 )
2018
23
Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis. ( 29462068 )
2018
24
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. ( 30089828 )
2018
25
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. ( 30054298 )
2018
26
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. ( 28317099 )
2018
27
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. ( 29169929 )
2018
28
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings. ( 29803542 )
2018
29
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. ( 29961027 )
2018
30
Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study. ( 28738752 )
2018
31
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. ( 29274205 )
2018
32
Cervical Stenosis in Adult Arthrogryposis: A Case Report and Review of the Literature. ( 29581933 )
2018
33
Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. ( 29626181 )
2018
34
Health-related quality of life and orthosis use in a Swedish population with arthrogryposis. ( 29775129 )
2018
35
Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis. ( 29791621 )
2018
36
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. ( 29882456 )
2018
37
Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. ( 29914754 )
2018
38
Difficult airway management in children and young adults with arthrogryposis. ( 30101221 )
2018
39
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. ( 30113773 )
2018
40
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. ( 30244176 )
2018
41
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. ( 30327447 )
2018
42
Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis. ( 28364011 )
2017
43
Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study. ( 28231241 )
2017
44
Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita. ( 28594689 )
2017
45
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. ( 29053766 )
2017
46
Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. ( 28213879 )
2017
47
Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita. ( 28374968 )
2017
48
Anesthetic Outcomes of Children With Arthrogryposis Syndromes: No Evidence of Hyperthermia. ( 28099287 )
2017
49
Distal Humerus External Rotation Osteotomy for Hand Position in Arthrogryposis. ( 28389082 )
2017
50
Biallelic TOR1A variants in an infant with severe arthrogryposis. ( 28516161 )
2017
Sources

Variations for Alkuraya-Kucinskas Syndrome

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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
Sources

Expression for Alkuraya-Kucinskas Syndrome

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

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GO Terms for Alkuraya-Kucinskas Syndrome

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Sources for Alkuraya-Kucinskas Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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