Intellectual Developmental Disorder, Autosomal Recessive 71 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 71

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 71:

Name: Intellectual Developmental Disorder, Autosomal Recessive 71 ⁵⁷ ⁶

Mental Retardation, Autosomal Recessive 71 ⁵⁷

Mrt71 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
seizures are well-controlled by medication and usually remit spontaneously
two unrelated consanguineous saudi families have been reported (last curated july 2019)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618504

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Summaries for Intellectual Developmental Disorder, Autosomal Recessive 71

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 71, is also known as mental retardation, autosomal recessive 71. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 71 is ALKBH8 (AlkB Homolog 8, TRNA Methyltransferase). Affiliated tissues include eye and kidney.

More information from OMIM: 618504

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Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 71

Diseases in the Intellectual Developmental Disorder, Autosomal Recessive 68 family:

Intellectual Developmental Disorder, Autosomal Recessive 67	Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70	Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder 59

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Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 71

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
global developmental delay
poor language
impaired intellectual development
seizures (in most patients)
mildly delayed walking

Genitourinary External Genitalia Male:
cryptorchidism
small penis

Head And Neck Mouth:
overbite

Head And Neck Eyes:
deep-set eyes
large eyes

Head And Neck Head:
macrocephaly (family a)

Genitourinary Kidneys:
solitary kidney (1 patient)

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit
stereotypic behaviors

Head And Neck Face:
long face
dysmorphic features, variable, non-specific

Head And Neck Ears:
large ears

Cardiovascular Heart:
ventricular septal defect (1 patient)
thick aortic valve (1 patient)

Abdomen External Features:
prune belly syndrome (family a)

Clinical features from OMIM:

618504

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Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 71

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 71

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Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 71

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Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 71

MalaCards organs/tissues related to Intellectual Developmental Disorder, Autosomal Recessive 71:

⁴¹

Eye, Kidney

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Publications for Intellectual Developmental Disorder, Autosomal Recessive 71

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 71:

#	Title	Authors	PMID	Year
1	Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification. ⁸ ⁷¹	Monies D...Alkuraya FS	31079898	2019

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Genes for Intellectual Developmental Disorder, Autosomal Recessive 71

Genes related to Intellectual Developmental Disorder, Autosomal Recessive 71 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALKBH8	AlkB Homolog 8, TRNA Methyltransferase	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶	31079898

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Variations for Intellectual Developmental Disorder, Autosomal Recessive 71

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 71:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	ALKBH8	NM_138775.3(ALKBH8): c.1651C> T (p.Arg551Ter)	single nucleotide variant	Pathogenic		11:107375728-107375728	11:107505002-107505002
2	ALKBH8	NM_138775.3(ALKBH8): c.1785del (p.Trp596fs)	deletion	Pathogenic		11:107375594-107375594	11:107504868-107504868

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Expression for Intellectual Developmental Disorder, Autosomal Recessive 71

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 71.

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Pathways for Intellectual Developmental Disorder, Autosomal Recessive 71

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GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 71

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Sources for Intellectual Developmental Disorder, Autosomal Recessive 71

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Intellectual Developmental Disorder, Autosomal Recessive 71 (MRT71)

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 71

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 71:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 71

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 71

Diseases in the Intellectual Developmental Disorder, Autosomal Recessive 68 family:

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 71

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 71

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 71

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 71

MalaCards organs/tissues related to Intellectual Developmental Disorder, Autosomal Recessive 71:

Publications for Intellectual Developmental Disorder, Autosomal Recessive 71

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 71:

Genes for Intellectual Developmental Disorder, Autosomal Recessive 71

Genes related to Intellectual Developmental Disorder, Autosomal Recessive 71 (1 elite genes):

Variations for Intellectual Developmental Disorder, Autosomal Recessive 71

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 71:

Expression for Intellectual Developmental Disorder, Autosomal Recessive 71

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 71

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 71

Sources for Intellectual Developmental Disorder, Autosomal Recessive 71