MRT72
MCID: INT364
MIFTS: 14

Intellectual Developmental Disorder, Autosomal Recessive 72 (MRT72)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 72

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 72:

Name: Intellectual Developmental Disorder, Autosomal Recessive 72 56 6
Mental Retardation, Autosomal Recessive 72 56
Mrt72 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 56 618665
OMIM Phenotypic Series 56 PS249500

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 72

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 72, is also known as mental retardation, autosomal recessive 72. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 72 is METTL5 (Methyltransferase Like 5).

More information from OMIM: 618665 PS249500

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 72

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 72

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity (in some patients)
delayed walking
seizures (1 patient)
poor or absent speech
more
Head And Neck Eyes:
strabismus

Head And Neck Nose:
overhanging nasal tip
narrow nasal base
broad nasal base

Head And Neck Mouth:
thin upper lip

Growth Other:
poor overall growth

Head And Neck Teeth:
abnormal dentition (in some patients)

Muscle Soft Tissue:
hypotonia, mild (in some patients)

Head And Neck Face:
long philtrum

Head And Neck Ears:
posteriorly rotated ears
large ears

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
autistic features
adhd
self-mutilating behavior

Growth Height:
short stature (in some patients)

Growth Weight:
low body weight

Head And Neck Head:
microcephaly (-2.8 to -8 sd)

Clinical features from OMIM:

618665

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 72

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 72

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 72

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 72

Publications for Intellectual Developmental Disorder, Autosomal Recessive 72

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 72:

# Title Authors PMID Year
1
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly. 56 6
31564433 2019
2
Genetics of intellectual disability in consanguineous families. 56
29302074 2019

Variations for Intellectual Developmental Disorder, Autosomal Recessive 72

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 72:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 METTL5 NM_014168.4(METTL5):c.571_572del (p.Lys191fs)deletion Pathogenic 689363 2:170668986-170668987 2:169812476-169812477
2 METTL5 NM_014168.4(METTL5):c.344_345del (p.Arg115fs)deletion Pathogenic 689379 2:170677663-170677664 2:169821153-169821154

Expression for Intellectual Developmental Disorder, Autosomal Recessive 72

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 72.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 72

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 72

Sources for Intellectual Developmental Disorder, Autosomal Recessive 72

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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