MCIDDS
MCID: MCR369
MIFTS: 17

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 57 72 29 6
Mcidds 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are dysarthria and delayed speech and language development

OMIM® : 57 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) (Updated 20-May-2021)

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 delayed speech and language development 31 HP:0000750
3 microcephaly 31 HP:0000252
4 short stature 31 HP:0004322
5 motor delay 31 HP:0001270
6 decreased body weight 31 HP:0004325
7 babinski sign 31 HP:0003487
8 spastic gait 31 HP:0002064
9 developmental cataract 31 HP:0000519
10 cogwheel rigidity 31 HP:0002396

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
spastic gait
cogwheel rigidity
motor developmental delay
language delay
more
Growth Height:
short stature

Head And Neck Eyes:
congenital cataract

Head And Neck Head:
microcephaly

Growth Weight:
low weight

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

Clinical features from OMIM®:

618284 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum 29 KCNA4

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

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

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

# Title Authors PMID Year
1
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. 57 6
27582084 2016
2
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11. 57 6
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 Name Type Significance ClinVarId dbSNP ID Position
1 KCNA4 NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln) SNV Uncertain significance 599408 rs779101828 GRCh37: 11:30033960-30033960
GRCh38: 11:30012413-30012413
2 KCNA4 NM_002233.4(KCNA4):c.1824G>C (p.Lys608Asn) SNV Uncertain significance 1028009 GRCh37: 11:30032402-30032402
GRCh38: 11:30010855-30010855

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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