MRT71
MCID: INT348
MIFTS: 19

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 56 73 6 17
Mrt71 56 73
Mental Retardation, Autosomal Recessive 71 56

Characteristics:

OMIM:

56
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:



Summaries for Intellectual Developmental Disorder, Autosomal Recessive 71

UniProtKB/Swiss-Prot : 73 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 global developmental delay

More information from OMIM: 618504 PS249500

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 71

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 global developmental delay 31 HP:0001263
3 macrotia 31 HP:0000400
4 macrocephaly 31 HP:0000256
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:

56
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

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:

40
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. 56 6
31079898 2019

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 GRCh37 Pos GRCh38 Pos
1 ALKBH8 NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)SNV Pathogenic 636271 11:107375728-107375728 11:107505002-107505002
2 ALKBH8 NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)deletion Pathogenic 636272 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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