MCID: CHL091
MIFTS: 61

Mental Retardation, Autosomal Dominant 11 malady

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Mental diseases, Rare diseases, Fetal diseases, Cardiovascular diseases, Bone diseases, Eye diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 11

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Aliases & Descriptions for Mental Retardation, Autosomal Dominant 11:

Name: Mental Retardation, Autosomal Dominant 11 51 69 26 12 67
Renal Failure Adverse Event 67
Abnormal Renal Function 67
 
Kidney Diseases 67
Kidney Failure 67
Mrd11 69

Characteristics:

HPO:

63
mental retardation, autosomal dominant 11:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 614257
MedGen36 C3280285
MeSH38 D008607

Summaries for Mental Retardation, Autosomal Dominant 11

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UniProtKB/Swiss-Prot:69 Mental retardation, autosomal dominant 11: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary: Mental Retardation, Autosomal Dominant 11, is also known as renal failure adverse event, and has symptoms including intellectual disability, renal colic and urinary tract signs and symptoms. An important gene associated with Mental Retardation, Autosomal Dominant 11 is EPB41L1 (Erythrocyte Membrane Protein Band 4.1 Like 1). The drugs albumin,human inj and dopamine have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description from OMIM:51 614257

Related Diseases for Mental Retardation, Autosomal Dominant 11

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Diseases in the Mental Retardation, Autosomal Dominant 11 family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 37 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Dominant, 27 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 19
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 12 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Dominant 32
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Dominant 17 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 34
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Dominant 16 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 15 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 44

Graphical network of diseases related to Mental Retardation, Autosomal Dominant 11:



Diseases related to mental retardation, autosomal dominant 11

Symptoms for Mental Retardation, Autosomal Dominant 11

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Clinical features from OMIM:

614257

Human phenotypes related to Mental Retardation, Autosomal Dominant 11:

 63
id Description HPO Frequency HPO Source Accession
1 intellectual disability63 very rare (1%) HP:0001249

UMLS symptoms related to Mental Retardation, Autosomal Dominant 11:


renal colic, urinary tract signs and symptoms, polyuria

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 11

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 11

Inferred drug relations via UMLS67/NDF-RT45:

Genetic Tests for Mental Retardation, Autosomal Dominant 11

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Genetic tests related to Mental Retardation, Autosomal Dominant 11:

id Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 1126

Anatomical Context for Mental Retardation, Autosomal Dominant 11

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MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 11:

35
Kidney

Animal Models for Mental Retardation, Autosomal Dominant 11 or affiliated genes

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Publications for Mental Retardation, Autosomal Dominant 11

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Variations for Mental Retardation, Autosomal Dominant 11

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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 11:

69
id Symbol AA change Variation ID SNP ID
1EPB41L1p.Pro854SerVAR_066600

Clinvar genetic disease variations for Mental Retardation, Autosomal Dominant 11:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EPB41L1EPB41L1, PRO854SERSNVPathogenicChr na, -1: -1

Expression for genes affiliated with Mental Retardation, Autosomal Dominant 11

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 11.

Pathways for genes affiliated with Mental Retardation, Autosomal Dominant 11

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GO Terms for genes affiliated with Mental Retardation, Autosomal Dominant 11

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Sources for Mental Retardation, Autosomal Dominant 11

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet