Alkuraya-Kucinskas Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ALKKUCS MCID: ALK024 MIFTS: 41	Alkuraya-Kucinskas Syndrome (ALKKUCS) Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Alkuraya-Kucinskas Syndrome

MalaCards integrated aliases for Alkuraya-Kucinskas Syndrome:

Name: Alkuraya-Kucinskas Syndrome ⁵⁷ ⁷⁴ ⁶

Arthrogryposis ⁴⁴ ⁴⁰ ¹⁷ ⁷²

Alkkucs ⁵⁷ ⁷⁴

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:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617822

MeSH ⁴⁴ D001176 D009421

MedGen ⁴² C4693347 CN737163

EFO ¹⁷ EFO_0003857

UMLS ⁷² C0003886

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Summaries for Alkuraya-Kucinskas Syndrome

UniProtKB/Swiss-Prot : ⁷⁴ 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). The drugs Adenosine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and bone, and related phenotypes are seizures and pericardial effusion

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

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

(show top 50) (show all 517)

#	Related Disease	Score
1	arthrogryposis, distal, type 1a	12.9
2	distal arthrogryposis	12.8
3	arthrogryposis multiplex congenita, neurogenic type	12.7
4	arthrogryposis, distal, type 5	12.7
5	arthrogryposis, renal dysfunction, and cholestasis 1	12.7
6	arthrogryposis, distal, type 2b1	12.7
7	arthrogryposis, distal, type 3	12.6
8	arthrogryposis, distal, type 5d	12.6
9	congenital arthrogryposis with anterior horn cell disease	12.6
10	arthrogryposis, distal, type 2a	12.6
11	arthrogryposis, mental retardation, and seizures	12.6
12	arthrogryposis, distal, type 2b2	12.5
13	arthrogryposis, distal, type 4	12.5
14	arthrogryposis, renal dysfunction, and cholestasis 2	12.5
15	arthrogryposis, distal, type 2b3	12.5
16	muscular dystrophy, congenital, producing arthrogryposis	12.5
17	arthrogryposis, perthes disease, and upward gaze palsy	12.5
18	arthrogryposis, distal, type 1b	12.5
19	arthrogryposis, distal, with impaired proprioception and touch	12.5
20	arthrogryposis, distal, type 6	12.5
21	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	12.4
22	arthrogryposis multiplex congenita, neurogenic, with myelin defect	12.4
23	arthrogryposis, distal, type 7	12.4
24	arthrogryposis multiplex congenita, myogenic type	12.4
25	arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	12.4
26	malignant hyperthermia arthrogryposis torticollis	12.3
27	arthrogryposis-like hand anomaly and sensorineural deafness	12.3
28	pelvic dysplasia arthrogryposis of lower limbs	12.3
29	spinal muscular atrophy, x-linked 2	12.3
30	arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay	12.3
31	arthrogryposis and ectodermal dysplasia	12.3
32	arthrogryposis, congenital, lower limb, x-linked	12.2
33	arthrogryposis multiplex congenita whistling face	12.2
34	autosomal recessive myogenic arthrogryposis multiplex congenita	12.2
35	neuropathy, congenital, with arthrogryposis multiplex	12.2
36	arthrogryposis, distal, type 10	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	arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies	12.1
43	bruck syndrome 1	12.1
44	arthrogryposis epileptic seizures migrational brain disorder	12.1
45	minicore myopathy, antenatal onset, with arthrogryposis	12.1
46	contractural arachnodactyly, congenital	12.1
47	arthrogryposis with hyperkeratosis	12.0
48	pelvic hypoplasia with lower-limb arthrogryposis	12.0
49	illum syndrome	12.0
50	arthrogryposis iugr thoracic dystrophy	12.0

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

Sources

Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

Human phenotypes related to Alkuraya-Kucinskas Syndrome:

³² (show all 45)

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

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
camptodactyly
overlapping fingers
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

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

(show all 7)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Adenosine

Approved, Investigational

58-61-7

60961

Synonyms:

(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

1-(6-amino-9H-Purin-9-yl)-1-deoxy-beta-delta-ribofuranose

1-(6-amino-9H-Purin-9-yl)-1-deoxy-beta-D-ribofuranose

1odi

2fqy

2gl0

30143-02-3

46946-45-6

46969-16-8

4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside

58-61-7

6-Amino-9-.beta.-ribofuranosyl-9H-purine

6-amino-9-b-D-Ribofuranosyl-9H-purine

6-amino-9beta-delta-Ribofuranosyl-9H-purine

6-amino-9beta-D-Ribofuranosyl-9H-purine

6-amino-9-beta-D-Ribofuranosyl-9H-purine

6-Amino-9beta-D-ribofuranosyl-9H-purine

6-Amino-9-beta-D-ribofuranosyl-9H-purine

6-amino-9-β-D-ribofuranosyl-9H-purine

9-(beta-D-Arabinofuranosyl)adenine

9-b-D-Ribofuranosidoadenine

9-b-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Arabinofuranosyladenine

9-beta-delta-Arabinofuranosyladenine

9-beta-delta-Ribofuranosidoadenine

9beta-delta-Ribofuranosyl-9H-purin-6-amine

9-beta-delta-Ribofuranosyl-9H-purin-6-amine

9beta-delta-Ribofuranosyladenine

9-beta-delta-Ribofuranosyladenine

9-beta-D-Ribofuranosidoadenine

9beta-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Ribofuranosyl-9H-purin-6-amine

9beta-D-Ribofuranosyladenine

9-beta-D-Ribofuranosyladenine

9-β-D-ribofuranosidoadenine

9-β-D-ribofuranosyl-9H-purin-6-amine

A0152

A4036_SIGMA

A9251_SIGMA

AC1L1U8O

AC1Q1ID3

AC1Q52XU

Adenin riboside

Adenine 9-beta-D-arabinofuranoside

Adenine deoxyribonucleoside

Adenine Deoxyribonucleoside

Adenine nucleoside

Adenine riboside

Adenine-9beta-delta-ribofuranoside

Adenine-9beta-D-ribofuranoside

Adenine-9-beta-D-ribofuranoside

adenine-D-ribose

Adenocard

Adenocard (TN)

Adenocard, Adenosine

Adenocor

Adenogesic

Adenoscan

Adenoscan (TN)

Adenosin

Adenosin [German]

Adenosina

adenosine

Adenosine

Adénosine

Adenosine (JAN/USP)

Adenosine [USAN:BAN]

Adenosine, homopolymer

Adenosinum

Adensoine

Adenyldeoxyriboside

Ade-rib

Ade-Rib

ADN

Ado

AI3-52413

BB_NC-0565

b-D-Adenosine

beta-Adenosine

beta-D-Adenosine

beta-delta-Adenosine

beta-D-Ribofuranoside, adenine-9

Bio1_000437

Bio1_000926

Bio1_001415

bmse000061

Boniton

BSPBio_001796

C00212

Caswell No. 010B

CCRIS 2557

CHEBI:16335

CHEMBL477

CID60961

D000241

D00045

DB00640

Deoxyadenosine

Desoxyadenosine

EA6C60C2-6AFB-4264-A2F0-541373DB950E

EINECS 200-389-9

FT-0082881

HMS1920A13

HMS2091G13

KBio3_001296

LS-15085

MEDR-640

MLS000069638

MLS002153227

MolPort-001-838-229

Myocol

NCGC00023673-03

NCGC00023673-04

NCGC00023673-05

NCGC00023673-06

NCGC00023673-07

nchembio.143-comp9

nchembio.186-comp109

nchembio.2007.56-comp13

nchembio.64-comp4

nchembio706-5

NSC 627048

NSC 7652

NSC627048

NSC7652

Nucleocardyl

Pallacor

Polyadenosine

Polyriboadenosine

S1647_Selleck

Sandesin

SDCCGMLS-0003108.P003

SMR000058216

SPBio_001194

SPECTRUM1500107

Spectrum2_001257

Spectrum3_000288

SR 96225

SR-96225

SUN-Y4001

TL8003749

UNII-K72T3FS567

USAF CB-10

V0098

Vidarabine

ZINC02169830

β-D-adenosine

Neurotransmitter Agents

Analgesics

Peripheral Nervous System Agents

Purinergic P1 Receptor Agonists

Anti-Arrhythmia Agents

Vasodilator Agents

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments	Completed	NCT01028833	Phase 2
2	WREX Outcome Study	Unknown status	NCT02218593
3	An Innovative Device for Intervention in Infants With Nervous System Injury	Completed	NCT01959581
4	Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome	Recruiting	NCT01144741
5	Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters	Not yet recruiting	NCT01306994
6	Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome	Terminated	NCT01307475

Search 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

MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

⁴¹

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

Sources

Publications for Alkuraya-Kucinskas Syndrome

Articles related to Alkuraya-Kucinskas Syndrome:

(show top 50) (show all 1940)

#	Title	Authors	PMID	Year
1	KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. ³⁸ ⁸ ⁷¹	Gueneau L...Reymond A	29290337	2018
2	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ⁸ ⁷¹	Alazami AM...Alkuraya FS	25558065	2015
3	Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. ⁸	Verstreken P...Bellen HJ	19640479	2009
4	Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. ³⁸	Bohm J...Laporte J	30327447	2019
5	Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. ³⁸	Shashi V...Kontrogianni-Konstantopoulos A	31264822	2019
6	Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation. ³⁸	Syngelaki A...Nicolaides KH	31408229	2019
7	Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management. ³⁸	Niles KM...Chitayat D	31218730	2019
8	Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. ³⁸	Dieterich K...Hall JG	31410997	2019
9	The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. ³⁸	Dieterich K...Giampietro P	31368648	2019
10	Predicting Ambulatory Function Based on Infantile Lower Extremity Posture Types in Amyoplasia Arthrogryposis. ³⁸	Donohoe M...Bowen JR	30672764	2019
11	A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome. ³⁸	Agawu A...Lin HC	31343487	2019
12	Rehabilitation across the lifespan for individuals with arthrogryposis. ³⁸	Wagner LV...Donohoe M	31397084	2019
13	Gene ontology analysis of arthrogryposis (multiple congenital contractures). ³⁸	Kiefer J...Hall JG	31369690	2019
14	A standardized autopsy protocol for arthrogryposis (multiple congenital contractures). ³⁸	Oberg KC...Hall JG	31373772	2019
15	Classification of arthrogryposis. ³⁸	Hall JG...Dieterich K	31271512	2019
16	Fetal cervical hyperextension in arthrogryposis. ³⁸	Hall JG	31350810	2019
17	One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania. ³⁸	Sanzarello I...Faldini C	31356505	2019
18	Characterization of Hand Anomalies Associated With Möbius Syndrome. ³⁸	Koehler DM...Wall LB	31031024	2019
19	SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy. ³⁸	Hakonen AH...Aittomaki K	31059209	2019
20	Treatment and outcomes of arthrogryposis in the upper extremity. ³⁸	Oishi S...Beckwith T	31268234	2019
21	Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. ³⁸	Filges I...Hall JG	31318155	2019
22	The relationship between joint surgery and quality of life in adults with arthrogryposis: An international study. ³⁸	Sawatzky B...Noureai H	31260181	2019
23	Muscle and joint function in children living with arthrogryposis multiplex congenita: A scoping review. ³⁸	Gagnon M...Dahan-Oliel N	31350946	2019
24	The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. ³⁸	Pehlivan D...Lupski JR	31230720	2019
25	Pain among children and adults living with arthrogryposis multiplex congenita: A scoping review. ³⁸	Cirillo A...Dahan-Oliel N	31347265	2019
26	International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. ³⁸	Dahan-Oliel N...Hall JG	31282072	2019
27	Perspectives on gait and motion analysis in the management of youth with arthrogryposis multiplex congenita. ³⁸	Rodriguez LM...Veilleux LN	31359604	2019
28	Research platform for children with arthrogryposis multiplex congenita: Findings from the pilot registry. ³⁸	Dahan-Oliel N...Hamdy RC	31359631	2019
29	Quality of life, satisfaction with life, and functional mobility of young adults with arthrogryposis after leaving pediatric care. ³⁸	Altiok H...Hassani S	31260186	2019
30	Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. ³⁸	Oleas-Santillan G...Bowen JR	31305362	2019
31	Effects of Abnormal Muscle Forces on Prenatal Joint Morphogenesis in Mice. ³⁸	Sotiriou V...Nowlan NC	31297860	2019
32	Descriptive study of suspected congenital Zika syndrome cases during the 2015-2016 epidemic in Brazil. ³⁸	Roma JHF...Pavoni JHC	31340371	2019
33	Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. ³⁸	Zapata-Aldana E...Campbell C	30938034	2019
34	Nonimmune hydrops fetalis: identifying the underlying genetic etiology. ³⁸	Sparks TN...University of California Fetal-Maternal Consortium (UCfC)	30410095	2019
35	Disease coding systems for arthrogryposis multiplex congenita. ³⁸	Bedard T...Lowry RB	31232506	2019
36	Elbow Flexion Assist Orthosis for Arthrogryposis. ³⁸	Wee J...Rahman T	31374678	2019
37	CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. ³⁸	Carrera-Garcia L...Nascimento A	30868735	2019
38	Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. ³⁸	van Bosse HJP	31312267	2019
39	New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis. ³⁸	Kiryu-Seo S...Kiyama H	30357652	2019
40	Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. ³⁸	Frints SGM...Kalscheuer VM	31206972	2019
41	Play with objects in children with arthrogryposis: Effects of intervention with the Playskin Lift™ exoskeletal garment. ³⁸	Babik I...Lobo MA	31232529	2019
42	PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review. ³⁸	Yamaguchi T...Kosho T	30941898	2019
43	Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis. ³⁸	Bourque DK...Boycott KM	30838783	2019
44	SYNE1-ataxia: Novel genotypic and phenotypic findings. ³⁸	Indelicato E...Boesch S	30573412	2019
45	Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. ³⁸	Arias M...Sobrido MJ	31103315	2019
46	A novel mutation in VPS33B gene causing a milder ARC syndrome phenotype with prolonged survival. ³⁸	Del Brio Castillo R...McKiernan PJ	31240160	2019
47	CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease. ³⁸	van der Beek J...Klumperman J	31092635	2019
48	Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms. ³⁸	Ma Y...Hao X	30988732	2019
49	Arthrogryposis in a Case of Chiari Malformation II: First Case Report in a Mediterranean Population. ³⁸	Naja AS...Nasser Eddine M	31105263	2019
50	Development of an online registry for adults with arthrogryposis multiplex congenita: A protocol paper. ³⁸	Sawatzky B...Registry Team	31099966	2019

Sources

Genes for Alkuraya-Kucinskas Syndrome

Genes related to Alkuraya-Kucinskas Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIAA1109	KIAA1109	Protein Coding	928.73	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	25558065 29290337

Sources

Variations for Alkuraya-Kucinskas Syndrome

ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	KIAA1109	NM_015312.3(KIAA1109): c.3986A> G (p.Tyr1329Cys)	single nucleotide variant	Pathogenic	rs770791100	4:123160823-123160823	4:122239668-122239668
2	KIAA1109	NM_015312.3(KIAA1109): c.5599G> A (p.Val1867Met)	single nucleotide variant	Pathogenic	rs1554025656	4:123170726-123170726	4:122249571-122249571
3	KIAA1109	NM_015312.3(KIAA1109): c.3611del (p.Asn1204fs)	deletion	Pathogenic	rs775516790	4:123159283-123159283	4:122238128-122238128
4	KIAA1109	NM_015312.3(KIAA1109): c.2902C> T (p.Arg968Cys)	single nucleotide variant	Pathogenic	rs1051597475	4:123147970-123147970	4:122226815-122226815
5	KIAA1109	NM_015312.3(KIAA1109): c.10153G> C (p.Gly3385Arg)	single nucleotide variant	Pathogenic	rs1554059454	4:123230520-123230520	4:122309365-122309365
6	KIAA1109	NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs730882245	4:123128323-123128323	4:122207168-122207168
7	KIAA1109	NM_015312.3(KIAA1109): c.439C> T (p.Arg147Cys)	single nucleotide variant	Uncertain significance	rs779054376	4:123107271-123107271	4:122186116-122186116

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Expression for Alkuraya-Kucinskas Syndrome

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Alkuraya-Kucinskas Syndrome (ALKKUCS)

Aliases & Classifications for Alkuraya-Kucinskas Syndrome

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Related Diseases for Alkuraya-Kucinskas Syndrome

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Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

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Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

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Expression for Alkuraya-Kucinskas Syndrome

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Sources for Alkuraya-Kucinskas Syndrome