X-Linked Intellectual Disability, Golabi-Ito-Hall Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

Name: X-Linked Intellectual Disability, Golabi-Ito-Hall Type ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

x-linked intellectual disability, golabi-ito-hall type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

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Summaries for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

MalaCards based summary : X-Linked Intellectual Disability, Golabi-Ito-Hall Type An important gene associated with X-Linked Intellectual Disability, Golabi-Ito-Hall Type is PQBP1 (Polyglutamine Binding Protein 1). Related phenotypes are intellectual disability and macroglossia

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Related Diseases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Symptoms & Phenotypes for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Human phenotypes related to X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

⁵⁸ ³¹ (show all 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	macroglossia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000158
3	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	narrow face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000275
6	upslanted palpebral fissure ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000582
7	long face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000276
8	protruding ear ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000411
9	triangular face ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000325
10	cupped ear ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000378
11	epicanthus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000286
12	atrial septal defect ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001631
13	nail dystrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008404
14	spastic diplegia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001264
15	brittle hair ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002299
16	dry hair ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011359
17	seizure ³¹	occasional (7.5%)		HP:0001250
18	seizures ⁵⁸		Occasional (29-5%)
19	spasticity ⁵⁸		Frequent (79-30%)
20	growth delay ⁵⁸		Very frequent (99-80%)

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Drugs & Therapeutics for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Genetic Tests for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Anatomical Context for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Publications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Genes for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Genes related to X-Linked Intellectual Disability, Golabi-Ito-Hall Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	350	Causative germline mutation ⁵⁸

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Variations for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Expression for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Golabi-Ito-Hall Type.

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Pathways for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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GO Terms for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

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Sources for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Aliases & Classifications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Related Diseases for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Symptoms & Phenotypes for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Human phenotypes related to X-Linked Intellectual Disability, Golabi-Ito-Hall Type:

Drugs & Therapeutics for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Genetic Tests for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Anatomical Context for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Publications for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Genes for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Genes related to X-Linked Intellectual Disability, Golabi-Ito-Hall Type (1 elite genes):

Variations for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Expression for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Pathways for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

GO Terms for X-Linked Intellectual Disability, Golabi-Ito-Hall Type

Sources for X-Linked Intellectual Disability, Golabi-Ito-Hall Type