MCID: MCR369
MIFTS: 9

Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum

Categories: Genetic diseases

Aliases & Classifications for Microcephaly, Cataracts, Impaired Intellectual Development, and...

MalaCards integrated aliases for Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum:

Name: Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 58 6
Mcidds 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 4 sibs from a consanguineous saudi family (last curated january 2019)


Classifications:



External Ids:

OMIM 58 618284

Summaries for Microcephaly, Cataracts, Impaired Intellectual Development, and...

OMIM : 58 The MCIDDS syndrome is characterized by microcephaly and growth retardation, congenital cataracts, impaired intellectual development with attention deficit-hyperactivity disorder, and dystonia, with striatal thinning seen on MRI (Al-Owain et al., 2013). (618284)

MalaCards based summary : Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum, is also known as mcidds. An important gene associated with Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum is KCNA4 (Potassium Voltage-Gated Channel Subfamily A Member 4).

Related Diseases for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Symptoms & Phenotypes for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
spastic gait
cogwheel rigidity
motor developmental delay
language delay
more
Growth Height:
short stature

Growth Weight:
low weight

Head And Neck Head:
microcephaly

Head And Neck Eyes:
congenital cataract

Neurologic Behavioral Psychiatric Manifestations:
attention-deficit/hyperactivity disorder (adhd)

Clinical features from OMIM:

618284

Drugs & Therapeutics for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum

Genetic Tests for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Anatomical Context for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Publications for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Variations for Microcephaly, Cataracts, Impaired Intellectual Development, and...

ClinVar genetic disease variations for Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA4 NM_002233.4(KCNA4): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 30012413: 30012413
2 KCNA4 NM_002233.4(KCNA4): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 30033960: 30033960

Expression for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Search GEO for disease gene expression data for Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum.

Pathways for Microcephaly, Cataracts, Impaired Intellectual Development, and...

GO Terms for Microcephaly, Cataracts, Impaired Intellectual Development, and...

Sources for Microcephaly, Cataracts, Impaired Intellectual Development, and...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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33 HPO
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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