MRT69
MCID: INT344
MIFTS: 19

Intellectual Developmental Disorder, Autosomal Recessive 69 (MRT69)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 69

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 69:

Name: Intellectual Developmental Disorder, Autosomal Recessive 69 57 72 29 6
Mental Retardation, Autosomal Recessive 69 57 72
Mrt69 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two consanguineous middle eastern families have been reported (last curated april 2019)


HPO:

31
intellectual developmental disorder, autosomal recessive 69:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618383
OMIM Phenotypic Series 57 PS249500
MeSH 44 D038901

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 69

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder, autosomal recessive 69: 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.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 69, is also known as mental retardation, autosomal recessive 69. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 69 is ZBTB11 (Zinc Finger And BTB Domain Containing 11). Related phenotypes are ataxia and microcephaly

More information from OMIM: 618383 PS249500

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 69

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Recessive 69:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 very rare (1%) HP:0001251
2 microcephaly 31 very rare (1%) HP:0000252
3 cerebellar hypoplasia 31 very rare (1%) HP:0001321
4 dysarthria 31 HP:0001260
5 global developmental delay 31 HP:0001263
6 ventriculomegaly 31 HP:0002119
7 drooling 31 HP:0002307
8 facial hypotonia 31 HP:0000297
9 hyperplasia of the maxilla 31 HP:0430028

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
developmental delay
enlarged ventricles
spasticity (in some patients)
impaired intellectual development
more
Head And Neck Face:
hypotonic facies
maxillary hyperplasia

Head And Neck Mouth:
drooling

Head And Neck Head:
microcephaly, mild (in some patients)

Clinical features from OMIM®:

618383 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 69

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 69

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 69

Genetic tests related to Intellectual Developmental Disorder, Autosomal Recessive 69:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder, Autosomal Recessive 69 29 ZBTB11

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 69

Publications for Intellectual Developmental Disorder, Autosomal Recessive 69

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 69:

# Title Authors PMID Year
1
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. 57 6
29893856 2018

Variations for Intellectual Developmental Disorder, Autosomal Recessive 69

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 69:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZBTB11 NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr) SNV Pathogenic 625185 rs1559982532 GRCh37: 3:101374954-101374954
GRCh38: 3:101656110-101656110
2 ZBTB11 NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln) SNV Pathogenic 625186 rs1559981249 GRCh37: 3:101371344-101371344
GRCh38: 3:101652500-101652500
3 ZBTB11 NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg) SNV Uncertain significance 1027862 GRCh37: 3:101384089-101384089
GRCh38: 3:101665245-101665245
4 ZBTB11 NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys) SNV Uncertain significance 1027863 GRCh37: 3:101390043-101390043
GRCh38: 3:101671199-101671199
5 ZBTB11 NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe) SNV Uncertain significance 1027864 GRCh37: 3:101384632-101384632
GRCh38: 3:101665788-101665788

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 69:

72
# Symbol AA change Variation ID SNP ID
1 ZBTB11 p.His880Gln VAR_080760 rs155998124
2 ZBTB11 p.His729Tyr VAR_082098 rs155998253

Expression for Intellectual Developmental Disorder, Autosomal Recessive 69

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 69.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 69

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 69

Sources for Intellectual Developmental Disorder, Autosomal Recessive 69

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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