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ALKKUCS
MCID: ALK024
MIFTS: 43
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Alkuraya-Kucinskas Syndrome (ALKKUCS)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Alkuraya-Kucinskas Syndrome: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: |
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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). The drugs Adenosine and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and skeletal muscle, and related phenotypes are seizures and pericardial effusion 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) |
Human phenotypes related to Alkuraya-Kucinskas Syndrome:31 (show all 45)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617822UMLS symptoms related to Alkuraya-Kucinskas Syndrome:muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity |
Drugs for Alkuraya-Kucinskas Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: arthrogryposis |
MalaCards organs/tissues related to Alkuraya-Kucinskas Syndrome:40
Brain,
Bone,
Skeletal Muscle,
Liver,
Eye,
Skin,
Heart
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Articles related to Alkuraya-Kucinskas Syndrome:(show top 50) (show all 1975)
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Genes related to Alkuraya-Kucinskas Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Alkuraya-Kucinskas Syndrome:6
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Search
GEO
for disease gene expression data for Alkuraya-Kucinskas Syndrome.
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