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

ALKKUCS MCID: ALK024 MIFTS: 31	Alkuraya-Kucinskas Syndrome (ALKKUCS) Categories: Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Alkuraya-Kucinskas Syndrome

MalaCards integrated aliases for Alkuraya-Kucinskas Syndrome:

Name: Alkuraya-Kucinskas Syndrome ⁵⁸ ⁷⁶ ⁶

Arthrogryposis ⁴⁵ ⁷⁴

Alkkucs ⁵⁸ ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

alkuraya-kucinskas syndrome:
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617822

MeSH ⁴⁵ D001176 D009421

MedGen ⁴³ C4693347 CN737163

SNOMED-CT via HPO ⁷⁰ 11731003 128306009 128490007 more

UMLS ⁷⁴ C0003886

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Summaries for Alkuraya-Kucinskas Syndrome

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

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

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

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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 296)

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

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

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Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

Human phenotypes related to Alkuraya-Kucinskas Syndrome:

³³ (show all 40)

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

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
macrocephaly

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

Neurologic Central Nervous System:
hydrocephalus
intellectual disability
cerebellar hypoplasia
cerebellar dysplasia
lissencephaly
more

Muscle Soft Tissue:
edema
hypotonia

Skeletal Skull:
plagiocephaly

Head And Neck Mouth:
high-arched palate

Genitourinary External Genitalia Male:
hypoplastic scrotum
small penis

Head And Neck Face:
retrognathism

Respiratory:
breathing difficulties, neonatal

Respiratory Lung:
pleural effusions (in some patients)

Head And Neck Eyes:
hypertelorism
strabismus
hypotelorism
oculomotor apraxia
hypermetropia
more

Skeletal Hands:
clinodactyly
overlapping fingers
camptodactyly
adducted thumbs
clenched hands

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

Head And Neck Neck:
webbed neck
cystic hygroma

Skeletal Feet:
cutaneous syndactyly
overlapping toes
foot deformities
club feet

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems

Skeletal:
arthrogryposis

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

Genitourinary Kidneys:
renal defects (in some patients)

Skeletal Limbs:
flexion deformities

Clinical features from OMIM:

617822

UMLS symptoms related to Alkuraya-Kucinskas Syndrome:

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

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Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

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

MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

⁴²

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

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Publications for Alkuraya-Kucinskas Syndrome

Articles related to Alkuraya-Kucinskas Syndrome:

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

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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	928.79	Molecular basis known ⁵⁸ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	29290337 25558065

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Variations for Alkuraya-Kucinskas Syndrome

ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:

⁶ (show all 14)

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

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Expression for Alkuraya-Kucinskas Syndrome

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

¹ BioSystems

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²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

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⁴⁶ MESH via Orphanet

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Alkuraya-Kucinskas Syndrome (ALKKUCS)

Aliases & Classifications for Alkuraya-Kucinskas Syndrome

MalaCards integrated aliases for Alkuraya-Kucinskas Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Alkuraya-Kucinskas Syndrome

Related Diseases for Alkuraya-Kucinskas Syndrome

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

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

Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

Human phenotypes related to Alkuraya-Kucinskas Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Alkuraya-Kucinskas Syndrome:

Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

Cochrane evidence based reviews: arthrogryposis

Genetic Tests for Alkuraya-Kucinskas Syndrome

Anatomical Context for Alkuraya-Kucinskas Syndrome

MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:

Publications for Alkuraya-Kucinskas Syndrome

Articles related to Alkuraya-Kucinskas Syndrome:

Genes for Alkuraya-Kucinskas Syndrome

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

Variations for Alkuraya-Kucinskas Syndrome

ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:

Expression for Alkuraya-Kucinskas Syndrome

Pathways for Alkuraya-Kucinskas Syndrome

GO Terms for Alkuraya-Kucinskas Syndrome

Sources for Alkuraya-Kucinskas Syndrome