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

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Aliases & Classifications for Alkuraya-Kucinskas Syndrome

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

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617822

MedGen ⁴² CN737163

MeSH ⁴⁴ D001176 D009421

UMLS ⁷³ C0003886

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Summaries for Alkuraya-Kucinskas Syndrome

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

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 232)

#	Related Disease	Score
1	arthrogryposis, distal, type 5	12.5
2	distal arthrogryposis	12.5
3	arthrogryposis, distal, type 1a	12.4
4	arthrogryposis multiplex congenita, neurogenic type	12.4
5	arthrogryposis, renal dysfunction, and cholestasis 1	12.4
6	arthrogryposis, distal, type 5d	12.3
7	arthrogryposis, distal, type 3	12.3
8	lethal arthrogryposis with anterior horn cell disease	12.3
9	muscular dystrophy, congenital, producing arthrogryposis	12.2
10	arthrogryposis, distal, type 2a	12.1
11	arthrogryposis, distal, type 4	12.1
12	arthrogryposis, distal, type 8	12.1
13	arthrogryposis, renal dysfunction, and cholestasis 2	12.1
14	arthrogryposis, mental retardation, and seizures	12.1
15	arthrogryposis, perthes disease, and upward gaze palsy	12.1
16	arthrogryposis, distal, type 1b	12.1
17	arthrogryposis, distal, with impaired proprioception and touch	12.1
18	arthrogryposis, distal, type 9	12.1
19	arthrogryposis, distal, type 7	12.1
20	arthrogryposis, distal, type 6	12.1
21	arthrogryposis multiplex congenita, neurogenic, with myelin defect	12.1
22	polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis	12.0
23	malignant hyperthermia arthrogryposis torticollis	12.0
24	arthrogryposis-like hand anomaly and sensorineural deafness	12.0
25	arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay	12.0
26	arthrogryposis, distal, type 10	11.9
27	autosomal recessive myogenic arthrogryposis multiplex congenita	11.9
28	fetal akinesia deformation sequence	11.9
29	arthrogryposis and ectodermal dysplasia	11.8
30	bruck syndrome 1	11.8
31	arthrogryposis, congenital, lower limb, x-linked	11.8
32	arthrogryposis multiplex congenita whistling face	11.8
33	neuropathy, congenital, with arthrogryposis multiplex	11.8
34	arthrogryposis epileptic seizures migrational brain disorder	11.8
35	minicore myopathy, antenatal onset, with arthrogryposis	11.8
36	pelvic dysplasia arthrogryposis of lower limbs	11.8
37	spinal muscular atrophy, x-linked 2	11.8
38	arthrogryposis with hyperkeratosis	11.7
39	pelvic hypoplasia with lower-limb arthrogryposis	11.7
40	arthrogryposis multiplex with deafness, inguinal hernias, and early death	11.7
41	arthrogryposis, distal, type 2e	11.7
42	arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies	11.7
43	arthrogryposis, distal, with mental retardation and characteristic facies	11.7
44	arthrogryposis iugr thoracic dystrophy	11.7
45	arthrogryposis multiplex congenita cns calcification	11.7
46	arthrogryposis spinal muscular atrophy	11.7
47	craniofacial dysostosis arthrogryposis progeroid appearence	11.7
48	craniosynostosis arthrogryposis cleft palate	11.7
49	craniosynostosis cleft lip palate arthrogryposis	11.7
50	distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies	11.7

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

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Symptoms & Phenotypes for Alkuraya-Kucinskas Syndrome

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

UMLS symptoms related to Alkuraya-Kucinskas Syndrome:

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

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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:

⁴¹

Brain, Eye

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Publications for Alkuraya-Kucinskas Syndrome

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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	943.44	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	25558065 29290337

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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	GRCh37	Chromosome 4, 123160823: 123160823
4	KIAA1109	NM_015312.3(KIAA1109): c.3986A> G (p.Tyr1329Cys)	single nucleotide variant	Pathogenic	rs770791100	GRCh38	Chromosome 4, 122239668: 122239668
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

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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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⁴ Cell Signaling Technology

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⁹ Cosmic

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

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³³ ICD10

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³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

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⁴¹ MalaCards

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⁵⁷ OMIM

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⁶⁶ Reactome

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia