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 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Orphanet ⁵⁹ ORPHA93947

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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 seizures

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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:

⁵⁹ ³² (show all 19)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	seizures ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001250
3	macroglossia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000158
4	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
5	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
6	nail dystrophy ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0008404
7	epicanthus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000286
8	atrial septal defect ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001631
9	protruding ear ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000411
10	narrow face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000275
11	upslanted palpebral fissure ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000582
12	long face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000276
13	triangular face ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000325
14	cupped ear ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000378
15	spastic diplegia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001264
16	brittle hair ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002299
17	dry hair ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011359
18	spasticity ⁵⁹		Frequent (79-30%)
19	growth delay ⁵⁹		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	PubmedIds
1	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹

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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

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⁸ Cochrane Library

⁹ Cosmic

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁸ GO

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³⁰ HGMD

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³³ ICD10

³⁴ ICD10 via Orphanet

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³⁶ IUPHAR

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia