Mental Retardation, X-Linked 100 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, X-Linked 100

MalaCards integrated aliases for Mental Retardation, X-Linked 100:

Name: Mental Retardation, X-Linked 100 ⁵⁷ ⁷³ ²⁹ ⁶ ⁷¹

Mrx100 ⁵⁷ ¹² ⁷³

Non-Syndromic X-Linked Intellectual Disability 100 ¹²

Mental Retardation, X-Linked, Type 100 ³⁹

X-Linked Mental Retardation 100 ¹²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
x-linked recessive

Miscellaneous:
one family has been reported (last curated july 2014)

HPO:

³¹

mental retardation, x-linked 100:
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0112040

OMIM® ⁵⁷ 300923

OMIM Phenotypic Series ⁵⁷ PS309530

MeSH ⁴⁴ D038901

MedGen ⁴¹ C3890167 CN197010

SNOMED-CT via HPO ⁶⁸ 128613002 228156007 246545002 more

UMLS ⁷¹ C3890167

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Summaries for Mental Retardation, X-Linked 100

UniProtKB/Swiss-Prot : ⁷³ Mental retardation, X-linked 100: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX100 clinical features include intellectual disability, epilepsy, microcephaly and cortical malformations.

MalaCards based summary : Mental Retardation, X-Linked 100, is also known as mrx100, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked 100 is KIF4A (Kinesin Family Member 4A). Related phenotypes are intellectual disability and abnormal facial shape

Disease Ontology : ¹² A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has material basis in hemizygous mutation in KIF4A on chromosome Xq13.1.

More information from OMIM: 300923 PS309530

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Related Diseases for Mental Retardation, X-Linked 100

Diseases in the Mental Retardation, X-Linked 12 family:

Mental Retardation, X-Linked 23	Mental Retardation, X-Linked 50
Mental Retardation, X-Linked 21	Mental Retardation, X-Linked 53
Mental Retardation, X-Linked 73	Mental Retardation, X-Linked 42
Mental Retardation, X-Linked 96	Mental Retardation, X-Linked 97
Mental Retardation, X-Linked 92	Mental Retardation, X-Linked 98
Mental Retardation, X-Linked 99	Mental Retardation, X-Linked 100
Mental Retardation, X-Linked 101	Mental Retardation, X-Linked 103
Mental Retardation, X-Linked 104	Mental Retardation, X-Linked 105
Mental Retardation, X-Linked 106	Mental Retardation, X-Linked 107

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Symptoms & Phenotypes for Mental Retardation, X-Linked 100

Human phenotypes related to Mental Retardation, X-Linked 100:

³¹ (showing 4, show less)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	abnormal facial shape ³¹	HP:0001999
3	poor speech ³¹	HP:0002465
4	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
seizures
poor speech
mental retardation, mild to moderate

Head And Neck Face:
facial dysmorphism, mild, nonspecific

Clinical features from OMIM®:

300923 (Updated 05-Mar-2021)

UMLS symptoms related to Mental Retardation, X-Linked 100:

seizures

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Drugs & Therapeutics for Mental Retardation, X-Linked 100

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 100

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Genetic Tests for Mental Retardation, X-Linked 100

Genetic tests related to Mental Retardation, X-Linked 100:

#	Genetic test	Affiliating Genes
1	Mental Retardation, X-Linked 100 ²⁹	KIF4A

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Anatomical Context for Mental Retardation, X-Linked 100

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Publications for Mental Retardation, X-Linked 100

Articles related to Mental Retardation, X-Linked 100:

(showing 1, show less)

#	Title	Authors	PMID	Year
1	Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. ⁵⁷ ⁶	Willemsen MH...Kleefstra T	24812067	2014

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Genes for Mental Retardation, X-Linked 100

Genes related to Mental Retardation, X-Linked 100 (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KIF4A	Kinesin Family Member 4A	Protein Coding	1092.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24812067

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Variations for Mental Retardation, X-Linked 100

ClinVar genetic disease variations for Mental Retardation, X-Linked 100:

⁶ (showing 3, show less)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KIF4A	NM_012310.5(KIF4A):c.1489-8_1490delinsATAATGAAAG	Indel	Pathogenic	140729	rs1555949612	X:69573464-69573473	X:70353614-70353623
2	KIF4A	NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn)	SNV	Likely pathogenic	804023	rs1344933833	X:69573508-69573508	X:70353658-70353658
3	KIF4A	NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)	SNV	Likely pathogenic	632604	rs1569234334	X:69549270-69549270	X:70329420-70329420

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Expression for Mental Retardation, X-Linked 100

Search GEO for disease gene expression data for Mental Retardation, X-Linked 100.

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Pathways for Mental Retardation, X-Linked 100

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GO Terms for Mental Retardation, X-Linked 100

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Sources for Mental Retardation, X-Linked 100

¹ BioSystems

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mental Retardation, X-Linked 100 (MRX100)

Aliases & Classifications for Mental Retardation, X-Linked 100

MalaCards integrated aliases for Mental Retardation, X-Linked 100:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Mental Retardation, X-Linked 100

Related Diseases for Mental Retardation, X-Linked 100

Diseases in the Mental Retardation, X-Linked 12 family:

Symptoms & Phenotypes for Mental Retardation, X-Linked 100

Human phenotypes related to Mental Retardation, X-Linked 100:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Mental Retardation, X-Linked 100:

Drugs & Therapeutics for Mental Retardation, X-Linked 100

Genetic Tests for Mental Retardation, X-Linked 100

Genetic tests related to Mental Retardation, X-Linked 100:

Anatomical Context for Mental Retardation, X-Linked 100

Publications for Mental Retardation, X-Linked 100

Articles related to Mental Retardation, X-Linked 100:

Genes for Mental Retardation, X-Linked 100

Genes related to Mental Retardation, X-Linked 100 (1 elite genes):

Variations for Mental Retardation, X-Linked 100

ClinVar genetic disease variations for Mental Retardation, X-Linked 100:

Expression for Mental Retardation, X-Linked 100

Pathways for Mental Retardation, X-Linked 100

GO Terms for Mental Retardation, X-Linked 100

Sources for Mental Retardation, X-Linked 100