MCID: CSK002
MIFTS: 14

Cask-Related Intellectual Disability

Categories: Blood diseases, Ear diseases, Eye diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cask-Related Intellectual Disability

MalaCards integrated aliases for Cask-Related Intellectual Disability:

Name: Cask-Related Intellectual Disability 43
X-Linked Intellectual Deficit, Najm Type 43
Cask Related Intellectual Disability 71
Cask-Related Disorders 43

Classifications:



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UMLS 71 C3839432

Summaries for Cask-Related Intellectual Disability

MedlinePlus Genetics : 43 CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.People with MICPCH often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Individuals with this condition have underdevelopment (hypoplasia) of areas of the brain called the cerebellum and the pons. The cerebellum is the part of the brain that coordinates movement. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.Individuals with MICPCH have intellectual disability that is usually severe. They may have sleep disturbances and exhibit self-biting, hand flapping, or other abnormal repetitive behaviors. Seizures are also common in this form of the disorder.People with MICPCH do not usually develop language skills, and most do not learn to walk. They have hearing loss caused by nerve problems in the inner ear (sensorineural hearing loss), and most also have abnormalities affecting the eyes. These abnormalities include underdevelopment of the nerves that carry information from the eyes to the brain (optic nerve hypoplasia), breakdown of the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do not look in the same direction (strabismus). Characteristic facial features may include arched eyebrows; a short, broad nose; a lengthened area between the nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and large ears.Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along with increased muscle tone (hypertonia) and stiffness (spasticity) in the limbs. Movement problems such as involuntary tensing of various muscles (dystonia) may also occur in this form of the disorder.XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder form of CASK-related intellectual disability. The intellectual disability in this form of the disorder can range from mild to severe; some affected females have normal intelligence. About half of affected individuals have nystagmus. Seizures and rhythmic shaking (tremors) may also occur in this form.

MalaCards based summary : Cask-Related Intellectual Disability, also known as x-linked intellectual deficit, najm type, is related to cask-related disorders and x-linked intellectual disability, najm type. An important gene associated with Cask-Related Intellectual Disability is CASK (Calcium/Calmodulin Dependent Serine Protein Kinase). Affiliated tissues include brain, cerebellum and pons.

Related Diseases for Cask-Related Intellectual Disability

Graphical network of the top 20 diseases related to Cask-Related Intellectual Disability:



Diseases related to Cask-Related Intellectual Disability

Symptoms & Phenotypes for Cask-Related Intellectual Disability

Drugs & Therapeutics for Cask-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Cask-Related Intellectual Disability

Genetic Tests for Cask-Related Intellectual Disability

Anatomical Context for Cask-Related Intellectual Disability

MalaCards organs/tissues related to Cask-Related Intellectual Disability:

40
Brain, Cerebellum, Pons, Eye

Publications for Cask-Related Intellectual Disability

Articles related to Cask-Related Intellectual Disability:

# Title Authors PMID Year
1
Presynaptic dysfunction in CASK-related neurodevelopmental disorders. 61
32929080 2020
2
A de novo in-frame deletion of CASK gene causes early onset infantile spasms and supratentorial cerebral malformation in a female patient. 61
30289607 2018
3
Phenotypic and molecular insights into CASK-related disorders in males. 61
25886057 2015

Variations for Cask-Related Intellectual Disability

Expression for Cask-Related Intellectual Disability

Search GEO for disease gene expression data for Cask-Related Intellectual Disability.

Pathways for Cask-Related Intellectual Disability

GO Terms for Cask-Related Intellectual Disability

Sources for Cask-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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