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 ⁷² ⁶ ¹⁷

Mrt71 ⁵⁷ ⁷²

Mental Retardation, Autosomal Recessive 71 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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)

HPO:

³¹

intellectual developmental disorder, autosomal recessive 71:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618504

OMIM Phenotypic Series ⁵⁷ PS249500

MeSH ⁴⁴ D038901

MedGen ⁴¹ C5193133 CN260726

EFO ¹⁷ EFO_0010280

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Summaries for Intellectual Developmental Disorder, Autosomal Recessive 71

UniProtKB/Swiss-Prot : ⁷² Intellectual developmental disorder, autosomal recessive 71: A form of mental retardation, 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 mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRT71 features include impaired intellectual development, global developmental delay, mildly delayed walking, poor language, seizures in the first years of life, and behavioral abnormalities.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 71, is also known as mrt71. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 71 is ALKBH8 (AlkB Homolog 8, TRNA Methyltransferase). Affiliated tissues include eye and kidney, and related phenotypes are ventricular septal defect and macrocephaly

More information from OMIM: 618504 PS249500

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Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 71

Diseases in the Intellectual Developmental Disorder, Autosomal Dominant 61 family:

Intellectual Developmental Disorder, Autosomal Recessive 12	Intellectual Developmental Disorder, Autosomal Recessive 67
Intellectual Developmental Disorder, Autosomal Recessive 68	Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70	Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder, Autosomal Dominant 59	Intellectual Developmental Disorder, Autosomal Recessive 72
Intellectual Developmental Disorder, Autosomal Dominant 62	Intellectual Developmental Disorder, Autosomal Dominant 64
Intellectual Developmental Disorder, Autosomal Dominant 65

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Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 71

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 71:

³¹ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	ventricular septal defect ³¹	very rare (1%)	HP:0001629
2	macrocephaly ³¹		HP:0000256
3	global developmental delay ³¹		HP:0001263
4	macrotia ³¹		HP:0000400
5	stereotypy ³¹		HP:0000733
6	cryptorchidism ³¹		HP:0000028
7	attention deficit hyperactivity disorder ³¹		HP:0007018
8	micropenis ³¹		HP:0000054
9	long face ³¹		HP:0000276
10	deeply set eye ³¹		HP:0000490
11	abnormally large globe ³¹		HP:0001090
12	overbite ³¹		HP:0011094
13	seizure ³¹		HP:0001250

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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

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

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)

Genitourinary External Genitalia Male:
cryptorchidism
small penis

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
attention deficit
stereotypic behaviors

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 (Updated 20-May-2021)

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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:

⁴⁰

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. ⁶ ⁵⁷	Monies D...Alkuraya FS	31079898	2019
2	Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. ⁶¹	Saad AK...Lupski JR	33544954	2021

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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	PubMed IDs
1	ALKBH8	AlkB Homolog 8, TRNA Methyltransferase	Protein Coding	917.14	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	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	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ALKBH8	NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	SNV	Pathogenic	636271	rs375189195	GRCh37: 11:107375728-107375728 GRCh38: 11:107505002-107505002
2	ALKBH8	NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)	Deletion	Pathogenic	636272	rs1591234203	GRCh37: 11:107375594-107375594 GRCh38: 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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⁵⁷ OMIM® (Updated 20-May-2021)

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⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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®:

HPO:

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 Dominant 61 family:

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 71

Human phenotypes related to 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