ALKKUCS
MCID: ALK024
MIFTS: 51

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 56 12 73 29 6 15
Arthrogryposis 43 39 17 71
Alkkucs 56 12 73
Syndrome, Alkuraya-Kucinskas 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
alkuraya-kucinskas syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Alkuraya-Kucinskas Syndrome

UniProtKB/Swiss-Prot : 73 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 distal arthrogryposis, and has symptoms including muscle weakness, arthralgia and myalgia. An important gene associated with Alkuraya-Kucinskas Syndrome is KIAA1109 (KIAA1109), and among its related pathways/superpathways is RAB GEFs exchange GTP for GDP on RABs. The drugs Everolimus and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related phenotypes are pericardial effusion and seizure

Disease Ontology : 12 A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has material basis in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27.

OMIM : 56 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 505)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 12.9
2 distal arthrogryposis 12.8
3 arthrogryposis, distal, type 5 12.8
4 arthrogryposis multiplex congenita, neurogenic type 12.8
5 arthrogryposis, renal dysfunction, and cholestasis 1 12.7
6 arthrogryposis, distal, type 2b1 12.7
7 arthrogryposis, distal, type 3 12.7
8 arthrogryposis, distal, type 5d 12.7
9 arthrogryposis multiplex congenita, myogenic type 12.6
10 arthrogryposis, distal, type 6 12.6
11 arthrogryposis, distal, type 2a 12.6
12 congenital arthrogryposis with anterior horn cell disease 12.6
13 arthrogryposis, distal, type 4 12.6
14 arthrogryposis, distal, type 1b 12.6
15 arthrogryposis, renal dysfunction, and cholestasis 2 12.6
16 arthrogryposis, distal, type 2b2 12.6
17 arthrogryposis, mental retardation, and seizures 12.6
18 arthrogryposis, distal, type 2b3 12.6
19 arthrogryposis multiplex congenita, neurogenic, with myelin defect 12.5
20 muscular dystrophy, congenital, producing arthrogryposis 12.5
21 arthrogryposis, perthes disease, and upward gaze palsy 12.5
22 arthrogryposis, distal, with impaired proprioception and touch 12.5
23 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 12.5
24 arthrogryposis, distal, type 10 12.5
25 arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum 12.5
26 arthrogryposis, distal, type 7 12.5
27 polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 12.5
28 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 12.4
29 pelvic hypoplasia with lower-limb arthrogryposis 12.4
30 spinal muscular atrophy, x-linked 2 12.3
31 malignant hyperthermia arthrogryposis torticollis 12.3
32 arthrogryposis with hyperkeratosis 12.3
33 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay 12.3
34 arthrogryposis and ectodermal dysplasia 12.3
35 arthrogryposis, congenital, lower limb, x-linked 12.3
36 neuropathy, congenital, with arthrogryposis multiplex 12.2
37 fetal akinesia deformation sequence 1 12.2
38 arthrogryposis multiplex with deafness, inguinal hernias, and early death 12.2
39 arthrogryposis, distal, with mental retardation and characteristic facies 12.1
40 spondylohypoplasia, arthrogryposis and popliteal pterygium 12.1
41 arthrogryposis, distal, type 2e 12.1
42 bruck syndrome 1 12.1
43 arthrogryposis epileptic seizures migrational brain disorder 12.1
44 minicore myopathy, antenatal onset, with arthrogryposis 12.1
45 illum syndrome 12.1
46 contractural arachnodactyly, congenital 12.1
47 arthrogryposis iugr thoracic dystrophy 12.0
48 arthrogryposis multiplex congenita cns calcification 12.0
49 craniofacial dysostosis arthrogryposis progeroid appearence 12.0
50 craniosynostosis arthrogryposis cleft palate 12.0

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:

31 (show all 45)
# Description HPO Frequency HPO Source Accession
1 pericardial effusion 31 very rare (1%) HP:0001698
2 seizure 31 very rare (1%) HP:0001250
3 cataract 31 HP:0000518
4 intellectual disability 31 HP:0001249
5 global developmental delay 31 HP:0001263
6 depressed nasal bridge 31 HP:0005280
7 hypertelorism 31 HP:0000316
8 behavioral abnormality 31 HP:0000708
9 macrocephaly 31 HP:0000256
10 short nose 31 HP:0003196
11 hydrocephalus 31 HP:0000238
12 anteverted nares 31 HP:0000463
13 edema 31 HP:0000969
14 strabismus 31 HP:0000486
15 absent speech 31 HP:0001344
16 high palate 31 HP:0000218
17 low-set ears 31 HP:0000369
18 webbed neck 31 HP:0000465
19 cystic hygroma 31 HP:0000476
20 talipes equinovarus 31 HP:0001762
21 upslanted palpebral fissure 31 HP:0000582
22 micropenis 31 HP:0000054
23 ventriculomegaly 31 HP:0002119
24 adducted thumb 31 HP:0001181
25 hypotelorism 31 HP:0000601
26 arthrogryposis multiplex congenita 31 HP:0002804
27 cerebellar hypoplasia 31 HP:0001321
28 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
29 plagiocephaly 31 HP:0001357
30 scrotal hypoplasia 31 HP:0000046
31 overlapping fingers 31 HP:0010557
32 posteriorly rotated ears 31 HP:0000358
33 lissencephaly 31 HP:0001339
34 hand clenching 31 HP:0001188
35 gray matter heterotopia 31 HP:0002282
36 oculomotor apraxia 31 HP:0000657
37 generalized hypotonia 31 HP:0001290
38 camptodactyly 31 HP:0012385
39 hypermetropia 31 HP:0000540
40 clinodactyly 31 HP:0030084
41 overlapping toe 31 HP:0001845
42 cerebellar dysplasia 31 HP:0007033
43 hypoplasia of the brainstem 31 HP:0002365
44 cutaneous syndactyly 31 HP:0012725
45 kinked brainstem 31 HP:0012793

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
hydrocephalus
cerebellar hypoplasia
lissencephaly
cerebellar dysplasia
more
Head And Neck Head:
macrocephaly

Muscle Soft Tissue:
edema
hypotonia

Head And Neck Neck:
webbed neck
cystic hygroma

Skeletal Hands:
overlapping fingers
camptodactyly
clinodactyly
adducted thumbs
clenched hands

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

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

Skeletal Skull:
plagiocephaly

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

Drugs for Alkuraya-Kucinskas Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
2
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
3
Pravastatin Approved Phase 3 81093-37-0 54687
4
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
5
Tolvaptan Approved Phase 3 150683-30-0 216237
6
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
9
tannic acid Approved Phase 2, Phase 3 1401-55-4
10
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
11 Triptolide Investigational Phase 3 38748-32-2
12 Contraceptive Agents, Male Phase 3
13 Alkylating Agents Phase 3
14 Contraceptive Agents Phase 3
15 Calcineurin Inhibitors Phase 3
16 Hypolipidemic Agents Phase 3
17 Lipid Regulating Agents Phase 3
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
19 Anticholesteremic Agents Phase 3
20 Antimetabolites Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Pharmaceutical Solutions Phase 3
23 Gastrointestinal Agents Phase 3
24 Hormones Phase 3
25 Vasopressins Phase 3
26 Arginine Vasopressin Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Immunologic Factors Phase 2, Phase 3
29 Anti-Bacterial Agents Phase 2, Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Anti-Infective Agents Phase 2, Phase 3
32 Antifungal Agents Phase 2, Phase 3
33 Antihypertensive Agents Phase 2, Phase 3
34
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
35
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
36
Pasireotide Approved Phase 2 396091-73-9 9941444
37
Sodium citrate Approved, Investigational Phase 2 68-04-2
38
Metformin Approved Phase 2 657-24-9 14219 4091
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
40
Cilnidipine Investigational Phase 2 132203-70-4 5282138
41
Imidapril Investigational Phase 2 89371-37-9 5464343
42
Candesartan Experimental Phase 2 139481-59-7 2541
43 Angiotensinogen Phase 2
44 Angiotensin Receptor Antagonists Phase 2
45 Angiotensin-Converting Enzyme Inhibitors Phase 2
46 Giapreza Phase 2
47 HIV Protease Inhibitors Phase 2
48
protease inhibitors Phase 2
49 calcium channel blockers Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
2 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
4 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
5 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061
6 A Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
7 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
8 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
9 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
10 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
11 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
12 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
13 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
14 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
15 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
16 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
17 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
18 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
19 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
20 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
21 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs
22 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
23 Open-label Dose Escalation Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Intravenous NPSP795 in Autosomal Dominant Hypocalcemia Due to Mutations in the Calcium-sensing Receptor Gene: A Drug Repurposing Study Completed NCT02204579 Phase 2 NPSP795
24 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2 OPC-41061
25 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
26 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
27 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
28 A Phase 2a, Single-center Study Investigating the Short-term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function Completed NCT01336972 Phase 2 Tolvaptan
29 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
30 A Phase 2, Multi-center, Open-label Study to Determine Long-term Safety, Tolerability and Efficacy of Split-dose Oral Regimens of Tolvaptan Tablets in a Range of 30 to 120 mg/d in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00413777 Phase 2 Tolvaptan
31 Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04284657 Phase 2 Pravastatin;sodium citrate
32 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
33 A Double-blind Randomized Parallel Group Study of the Efficacy and Safety of Tesevatinib in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
34 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
35 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
36 WREX Outcome Study Unknown status NCT02218593
37 Efficacy Study of Long-term Water Intake on the Progression of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Completed NCT01348035
38 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624
39 A Multi-center, Longitudinal, Observational Study of Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) to Establish the Rate, Characteristics, and Determinants of Disease Progression Completed NCT01430494
40 Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease Completed NCT02322385
41 Pilot and Feasibility Study: Evaluation of New Quantitative Magnetic Resonance Imaging Parameters in Assessing the Kidneys of Autosomal Dominant Polycystic Kidney Disease Completed NCT02250287
42 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
43 An Innovative Device for Intervention in Infants With Nervous System Injury Completed NCT01959581
44 Assessment of Adrenal Functions in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00598377 Tetracosactin
45 A New Diet for Patients With Autosomal Dominant Polycystic Disease (ADPKD) Completed NCT01810614
46 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease Completed NCT00759369
47 Pilot Study of RNA as a Biomarker for Autosomal Dominant Polycystic Kidney Disease Completed NCT01114594
48 The Kidneys Ability to Concentrate and Dilute Urine in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) or Other Cause of Chronic Renal Disease Compared to Healthy Volunteers Completed NCT04363554
49 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
50 The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease, During Basal Conditions and After Hypertonic Saline Infusion. Completed NCT00410007

Search NIH Clinical Center for Alkuraya-Kucinskas Syndrome

Cochrane evidence based reviews: arthrogryposis

Genetic Tests for Alkuraya-Kucinskas Syndrome

Genetic tests related to Alkuraya-Kucinskas Syndrome:

# Genetic test Affiliating Genes
1 Alkuraya-Kucinskas Syndrome 29 KIAA1109

Anatomical Context for Alkuraya-Kucinskas Syndrome

MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

40
Kidney, Brain, Liver, Bone, Skeletal Muscle, Eye, Skin

Publications for Alkuraya-Kucinskas Syndrome

Articles related to Alkuraya-Kucinskas Syndrome:

(show top 50) (show all 1998)
# Title Authors PMID Year
1
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 61 6 56
29290337 2018
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 56 6
25558065 2015
3
Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. 56
19640479 2009
4
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
5
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
6
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. 61
32092148 2020
7
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
8
Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome. 61
32518143 2020
9
Elbow Release and Tricepsplasty in Arthrogrypotic Patients: A Long-Term Follow-Up Study. 61
31537399 2020
10
Restoration of Elbow Flexion With a Free Functional Gracilis Muscle Transfer in an Arthrogrypotic Patient Using a Motor Nerve to Pectoralis Major. 61
32507010 2020
11
Early-onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling. 61
32557569 2020
12
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
13
Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods. 61
32379138 2020
14
Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome. 61
31770315 2020
15
Arthrogryposis Multiplex Congenita and limitation of mouth opening: presentation of a case and review of the literature. 61
32450320 2020
16
Bone densities and bone geometry in children and adolescents with arthrogryposis. 61
32464275 2020
17
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 61
31960134 2020
18
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. 61
32392656 2020
19
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
20
Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review. 61
32299279 2020
21
Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis. 61
32239418 2020
22
The genomic and clinical landscape of fetal akinesia. 61
31680123 2020
23
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61
31880396 2020
24
Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series. 61
31891236 2020
25
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. 61
31513940 2020
26
Anterior Distal Hemiepiphysiodesis of Tibia for Treatment of Recurrent Equinus Deformity Due to Flat-Top Talus in Surgically Treated Clubfoot. 61
32131014 2020
27
Cerebral Palsy in Children With Congenital Zika Syndrome: A 2-Year Neurodevelopmental Follow-up. 61
31718421 2020
28
Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita. 61
32131798 2020
29
Myasthaenia gravis in pregnancy, delivery and newborn. 61
32153161 2020
30
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
31
Novel SPEG variant cause centronuclear myopathy in China. 61
31625632 2020
32
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers. 61
31463586 2020
33
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 61
31660661 2020
34
The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis. 61
32032217 2020
35
50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation. 61
32040413 2020
36
Orthopaedic care of the child with arthrogryposis: a 2020 overview. 61
31743218 2020
37
Patient-reported Outcomes in Arthrogryposis. 61
32040062 2020
38
Body wall defects and amniotic band syndrome in pig (Sus scrofa domesticus). 61
31513296 2020
39
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. 61
31932168 2020
40
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. 61
32566668 2020
41
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 61
32328110 2020
42
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A. 61
32117035 2020
43
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
44
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. 61
31746383 2020
45
Posterior Elbow Capsulotomy and Triceps Lengthening for Elbow Extension Contracture in Children with Arthrogryposis Multiplex Congenita. 61
32368405 2020
46
Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. 61
31305362 2020
47
Uterine Torsion Dystocia Complicated by Perosomus Elumbis in an Angus Calf Associated with a Consanguineous Mating. 61
32095313 2020
48
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. 61
31791363 2019
49
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 61
31504653 2019
50
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019

Variations for Alkuraya-Kucinskas Syndrome

ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIAA1109 NM_015312.3(KIAA1109):c.3986A>G (p.Tyr1329Cys)SNV Pathogenic 487547 rs770791100 4:123160823-123160823 4:122239668-122239668
2 KIAA1109 NM_015312.3(KIAA1109):c.5599G>A (p.Val1867Met)SNV Pathogenic 487548 rs1554025656 4:123170726-123170726 4:122249571-122249571
3 KIAA1109 NM_015312.3(KIAA1109):c.3611del (p.Asn1204fs)deletion Pathogenic 487549 rs775516790 4:123159280-123159280 4:122238125-122238125
4 KIAA1109 NM_015312.3(KIAA1109):c.2902C>T (p.Arg968Cys)SNV Pathogenic 487550 rs1051597475 4:123147970-123147970 4:122226815-122226815
5 KIAA1109 NM_015312.3(KIAA1109):c.10153G>C (p.Gly3385Arg)SNV Pathogenic 487551 rs1554059454 4:123230520-123230520 4:122309365-122309365
6 KIAA1109 NM_015312.3(KIAA1109):c.1557T>A (p.Tyr519Ter)SNV Pathogenic/Likely pathogenic 183349 rs730882245 4:123128323-123128323 4:122207168-122207168
7 KIAA1109 NM_015312.3(KIAA1109):c.1381-2A>GSNV Likely pathogenic 804447 4:123122162-123122162 4:122201007-122201007
8 KIAA1109 NM_015312.3(KIAA1109):c.439C>T (p.Arg147Cys)SNV Uncertain significance 523045 rs779054376 4:123107271-123107271 4:122186116-122186116
9 KIAA1109 NM_015312.3(KIAA1109):c.1183del (p.Ile395fs)deletion Uncertain significance 800986 4:123117919-123117919 4:122196764-122196764

Expression for Alkuraya-Kucinskas Syndrome

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

Pathways for Alkuraya-Kucinskas Syndrome

Pathways related to Alkuraya-Kucinskas Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.75 DENND4C DENND4B DENND4A

GO Terms for Alkuraya-Kucinskas Syndrome

Cellular components related to Alkuraya-Kucinskas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retromer complex GO:0030904 8.62 VPS26B DENND4C

Molecular functions related to Alkuraya-Kucinskas Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 guanyl-nucleotide exchange factor activity GO:0005085 9.13 DENND4C DENND4B DENND4A
2 Rab guanyl-nucleotide exchange factor activity GO:0017112 8.8 DENND4C DENND4B DENND4A

Sources for Alkuraya-Kucinskas Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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