MCIDDS
MCID: MCR369
MIFTS: 15

Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum (MCIDDS)

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 76 6
Mcidds 58 76

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
MeSH 45 D000015
MedGen 43 CN258120

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

UniProtKB/Swiss-Prot : 76 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum: An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads.

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). Affiliated tissues include brain, and related phenotypes are dysarthria and delayed speech and language development

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)

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

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

Human phenotypes related to Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum:

33
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 delayed speech and language development 33 HP:0000750
3 motor delay 33 HP:0001270
4 spastic gait 33 HP:0002064
5 cogwheel rigidity 33 HP:0002396

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...

MalaCards organs/tissues related to Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum:

42
Brain

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

Articles related to Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum:

# Title Authors Year
1
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. ( 27582084 )
2016
2
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11. ( 23181898 )
2013

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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