MCID: ALK024
MIFTS: 24

Alkuraya-Kucinskas Syndrome

Categories: Genetic diseases

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:



External Ids:

OMIM 57 617822
MedGen 42 CN737163
UMLS 73 C0003886

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)

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 Top Affiliating Genes
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:



Diseases related to Alkuraya-Kucinskas Syndrome

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

Drugs & Therapeutics for Alkuraya-Kucinskas Syndrome

Search Clinical Trials , NIH Clinical Center 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:

41
Brain, Eye

Publications for Alkuraya-Kucinskas Syndrome

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

Expression for Alkuraya-Kucinskas Syndrome

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

Pathways for Alkuraya-Kucinskas Syndrome

GO Terms for Alkuraya-Kucinskas Syndrome

Sources for Alkuraya-Kucinskas Syndrome

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
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