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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 57 75 6
Arthrogryposis 44 73
Alkkucs 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 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 hypertelorism and low-set ears

OMIM : 57 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 259)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 12.6
2 arthrogryposis, distal, type 5 12.6
3 arthrogryposis, distal, type 1a 12.6
4 arthrogryposis multiplex congenita, neurogenic type 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 lethal 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 12.2
17 arthrogryposis, distal, with impaired proprioception and touch 12.2
18 arthrogryposis-like hand anomaly and sensorineural deafness 12.2
19 arthrogryposis, distal, type 9 12.2
20 arthrogryposis, distal, type 7 12.2
21 arthrogryposis, distal, type 6 12.2
22 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.2
23 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.2
24 malignant hyperthermia arthrogryposis torticollis 12.2
25 spinal muscular atrophy, x-linked 2 12.1
26 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.1
27 arthrogryposis and ectodermal dysplasia 12.1
28 arthrogryposis multiplex congenita whistling face 12.1
29 neuropathy, congenital, with arthrogryposis multiplex 12.1
30 autosomal recessive myogenic arthrogryposis multiplex congenita 12.0
31 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.0
32 fetal akinesia deformation sequence 12.0
33 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.0
34 bruck syndrome 1 12.0
35 arthrogryposis, congenital, lower limb, x-linked 12.0
36 arthrogryposis, distal, type 10 11.9
37 arthrogryposis epileptic seizures migrational brain disorder 11.9
38 minicore myopathy, antenatal onset, with arthrogryposis 11.9
39 pelvic dysplasia arthrogryposis of lower limbs 11.9
40 arthrogryposis with hyperkeratosis 11.9
41 pelvic hypoplasia with lower-limb arthrogryposis 11.9
42 arthrogryposis, distal, type 2e 11.8
43 arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies 11.8
44 arthrogryposis, distal, with mental retardation and characteristic facies 11.8
45 arthrogryposis iugr thoracic dystrophy 11.8
46 arthrogryposis multiplex congenita cns calcification 11.8
47 arthrogryposis spinal muscular atrophy 11.8
48 craniofacial dysostosis arthrogryposis progeroid appearence 11.8
49 craniosynostosis arthrogryposis cleft palate 11.8
50 craniosynostosis cleft lip palate arthrogryposis 11.8

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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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Alkuraya-Kucinskas Syndrome:

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

UMLS symptoms related to Alkuraya-Kucinskas Syndrome:


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

41
Brain, Eye, Bone, Liver, Heart, Placenta, Colon
Sources

Publications for Alkuraya-Kucinskas Syndrome

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Articles related to Alkuraya-Kucinskas Syndrome:

(show top 50) (show all 552)
# Title Authors Year
1
Intrafamilial variability of clinical features in distal arthrogryposis type 2B. ( 30216196 )
2019
2
Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings. ( 28954562 )
2019
3
Improvement of refractory pruritus after lipoprotein-apheresis in arthrogryposis-renal failure-cholestasis syndrome. ( 29065234 )
2018
4
Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. ( 30093463 )
2018
5
A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. ( 30483960 )
2018
6
Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome-CHRNA1 mutation. ( 30177536 )
2018
7
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. ( 30029526 )
2018
8
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D. ( 30080694 )
2018
9
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. ( 30285720 )
2018
10
Case-matched comparative analysis of spinal deformity correction in arthrogryposis multiplex congenita versus adolescent idiopathic scoliosis. ( 30485184 )
2018
11
Risk Factors of Impaired Pulmonary Function in Arthrogryposis Multiplex Congenital Patients With Concomitant Scoliosis: A Comparison With Adolescent Idiopathic Scoliosis. ( 29462068 )
2018
12
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. ( 30089828 )
2018
13
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. ( 30054298 )
2018
14
Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. ( 28317099 )
2018
15
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding. ( 29169929 )
2018
16
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
17
Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita. ( 29894799 )
2018
18
Development of a research platform for children with arthrogryposis multiplex congenita: study protocol for a pilot registry. ( 29961027 )
2018
19
Physical functioning and activities of daily living in adults with amyoplasia, the most common form of arthrogryposis. A cross-sectional study. ( 28738752 )
2018
20
Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. ( 29274205 )
2018
21
Cervical Stenosis in Adult Arthrogryposis: A Case Report and Review of the Literature. ( 29581933 )
2018
22
Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. ( 29626181 )
2018
23
Health-related quality of life and orthosis use in a Swedish population with arthrogryposis. ( 29775129 )
2018
24
Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis. ( 29791621 )
2018
25
Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. ( 29882456 )
2018
26
Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. ( 29914754 )
2018
27
Difficult airway management in children and young adults with arthrogryposis. ( 30101221 )
2018
28
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome. ( 30113773 )
2018
29
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. ( 30244176 )
2018
30
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. ( 30327447 )
2018
31
Spectrum of Spinal Cord, Spinal Root, and Brain MRI Abnormalities in Congenital Zika Syndrome with and without Arthrogryposis. ( 28364011 )
2017
32
Hydrocephalus and arthrogryposis in an immunocompetent mouse model of ZIKA teratogeny: A developmental study. ( 28231241 )
2017
33
Treatment of Scoliosis Associated With Arthrogryposis Multiplex Congenita. ( 28594689 )
2017
34
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor. ( 29053766 )
2017
35
Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. ( 28213879 )
2017
36
Long-term functional and mobility outcomes for individuals with arthrogryposis multiplex congenita. ( 28374968 )
2017
37
Anesthetic Outcomes of Children With Arthrogryposis Syndromes: No Evidence of Hyperthermia. ( 28099287 )
2017
38
Distal Humerus External Rotation Osteotomy for Hand Position in Arthrogryposis. ( 28389082 )
2017
39
Biallelic TOR1A variants in an infant with severe arthrogryposis. ( 28516161 )
2017
40
Arthrogryposis Introduction. ( 28594684 )
2017
41
Background to the 2nd International Symposium on Arthrogryposis. ( 28594685 )
2017
42
Anaesthesiology for Children With Arthrogryposis. ( 28594690 )
2017
43
Treatment of congenital clasped thumb in arthrogryposis. ( 28602132 )
2017
44
Is bipolar latissimus dorsi transfer a reliable option to restore elbow flexion in children with arthrogryposis? A review of 13 tendon transfers. ( 28689830 )
2017
45
Combined Elbow Release and Humeral Rotational Osteotomy in Arthrogryposis. ( 28716382 )
2017
46
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. ( 28729373 )
2017
47
Reorientational Proximal Femoral Osteotomies for Correction of Hip Contractures in Children with Arthrogryposis. ( 30233946 )
2017
48
Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report. ( 26914089 )
2016
49
Congenital Zika syndrome with arthrogryposis: retrospective case series study. ( 27509902 )
2016
50
Characterization of a group unrelated patients with arthrogryposis multiplex congenita. ( 26453511 )
2016
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 GRCh38 Chromosome 4, 122249571: 122249571
6 KIAA1109 NM_015312.3(KIAA1109): c.5599G> A (p.Val1867Met) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 123170726: 123170726
7 KIAA1109 NM_015312.3(KIAA1109): c.3611delA (p.Asn1204Thrfs) deletion Pathogenic GRCh38 Chromosome 4, 122238128: 122238128
8 KIAA1109 NM_015312.3(KIAA1109): c.3611delA (p.Asn1204Thrfs) deletion Pathogenic 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 GRCh37 Chromosome 4, 123230520: 123230520
12 KIAA1109 NM_015312.3(KIAA1109): c.10153G> C (p.Gly3385Arg) single nucleotide variant Pathogenic 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 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
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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