Mental Retardation, Autosomal Recessive 44 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mental Retardation, Autosomal Recessive 44

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 44:

Name: Mental Retardation, Autosomal Recessive 44 ⁵⁷ ⁷⁵ ²⁹ ⁶ ⁷³

Mrt44 ⁵⁷ ⁷⁵

Mental Retardation, Autosomal Recessive, Type 44 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity

HPO:

³²

mental retardation, autosomal recessive 44:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Cardiovascular diseases Bone diseases Skin diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615942

MedGen ⁴² C4014745 CN207815

MeSH ⁴⁴ D008607

SNOMED-CT via HPO ⁶⁹ 258211005 301348000 228156007 more

UMLS ⁷³ C4014745

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Summaries for Mental Retardation, Autosomal Recessive 44

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, autosomal recessive 44: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT44 manifestations include mild to severe cognitive impairment, delayed psychomotor development, seizures in some patients, and dysmorphic features.

MalaCards based summary : Mental Retardation, Autosomal Recessive 44, is also known as mrt44. An important gene associated with Mental Retardation, Autosomal Recessive 44 is METTL23 (Methyltransferase Like 23). Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

Description from OMIM: 615942

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Related Diseases for Mental Retardation, Autosomal Recessive 44

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2	Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22	Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7	Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16	Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10	Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31	Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27	Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30	Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23	Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25	Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13	Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19	Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36	Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21	Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39	Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41	Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42	Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24	Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27	Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45	Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30	Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31	Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32	Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49	Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34	Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36	Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50	Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40	Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52	Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41	Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43	Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55	Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56	Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58	Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60	Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46	Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48	Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61	Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51	Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53	Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56	Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 44

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
delayed psychomotor development
seizures (in some patients)
cognitive impairment, mild to severe
decreased delineation of the basal ganglia (in some patients)

Head And Neck Nose:
depressed nasal bridge (in some patients)
short, upturned nose (in some patients)

Head And Neck Mouth:
thin lips (in some patients)

Head And Neck Eyes:
bulging eyes (in some patients)

Head And Neck Face:
long philtrum (in some patients)

Skeletal Feet:
pes planus (in some patients)

Head And Neck Head:
flat occiput (in some patients)

Clinical features from OMIM:

615942

Human phenotypes related to Mental Retardation, Autosomal Recessive 44:

³² (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³²		HP:0001249
2	seizures ³²	occasional (7.5%)	HP:0001250
3	global developmental delay ³²		HP:0001263
4	depressed nasal bridge ³²	occasional (7.5%)	HP:0005280
5	pes planus ³²	occasional (7.5%)	HP:0001763
6	cognitive impairment ³²		HP:0100543
7	long philtrum ³²	occasional (7.5%)	HP:0000343
8	flat occiput ³²	occasional (7.5%)	HP:0005469
9	thin vermilion border ³²	occasional (7.5%)	HP:0000233

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Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 44

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 44

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Genetic Tests for Mental Retardation, Autosomal Recessive 44

Genetic tests related to Mental Retardation, Autosomal Recessive 44:

#	Genetic test	Affiliating Genes
1	Mental Retardation, Autosomal Recessive 44 ²⁹	METTL23

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Anatomical Context for Mental Retardation, Autosomal Recessive 44

MalaCards organs/tissues related to Mental Retardation, Autosomal Recessive 44:

⁴¹

Eye

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Publications for Mental Retardation, Autosomal Recessive 44

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Genes for Mental Retardation, Autosomal Recessive 44

Genes related to Mental Retardation, Autosomal Recessive 44 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	METTL23	Methyltransferase Like 23	Protein Coding	1028.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24626631 24501276

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Variations for Mental Retardation, Autosomal Recessive 44

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 44:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	METTL23	NM_001080510.4(METTL23): c.169_172delCACT (p.His57Valfs)	deletion	Pathogenic	rs587777644	GRCh37	Chromosome 17, 74729144: 74729147
2	METTL23	NM_001080510.4(METTL23): c.169_172delCACT (p.His57Valfs)	deletion	Pathogenic	rs587777644	GRCh38	Chromosome 17, 76733062: 76733065
3	METTL23	NM_001080510.4(METTL23): c.282_286delAGATA (p.Gln94Hisfs)	deletion	Pathogenic	rs587777645	GRCh37	Chromosome 17, 74729257: 74729261
4	METTL23	NM_001080510.4(METTL23): c.282_286delAGATA (p.Gln94Hisfs)	deletion	Pathogenic	rs587777645	GRCh38	Chromosome 17, 76733175: 76733179
5	METTL23	NM_001080510.4(METTL23): c.397C> T (p.Gln133Ter)	single nucleotide variant	Pathogenic	rs587777646	GRCh37	Chromosome 17, 74729449: 74729449
6	METTL23	NM_001080510.4(METTL23): c.397C> T (p.Gln133Ter)	single nucleotide variant	Pathogenic	rs587777646	GRCh38	Chromosome 17, 76733367: 76733367

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Expression for Mental Retardation, Autosomal Recessive 44

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 44.

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Pathways for Mental Retardation, Autosomal Recessive 44

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GO Terms for Mental Retardation, Autosomal Recessive 44

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Sources for Mental Retardation, Autosomal Recessive 44

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