MRT71
MCID: INT348
MIFTS: 14

Intellectual Developmental Disorder, Autosomal Recessive 71 (MRT71)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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:



External Ids:

OMIM 57 618504

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

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 71

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

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 71

Search Clinical Trials , NIH Clinical Center 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:

41
Eye, Kidney

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
31079898 2019

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

Expression for Intellectual Developmental Disorder, Autosomal Recessive 71

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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