Aliases & Classifications for Acroleukopathy, Symmetric

MalaCards integrated aliases for Acroleukopathy, Symmetric:

Name: Acroleukopathy, Symmetric 58 6
Pituitary Adenoma Predisposition 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acroleukopathy, symmetric:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 102000
MedGen 43 C1863342
SNOMED-CT via HPO 70 263681008
UMLS 74 C1863340

Summaries for Acroleukopathy, Symmetric

MalaCards based summary : Acroleukopathy, Symmetric, is also known as pituitary adenoma predisposition. An important gene associated with Acroleukopathy, Symmetric is AIP (Aryl Hydrocarbon Receptor Interacting Protein). Affiliated tissues include pituitary, and related phenotype is symmetric great toe depigmentation.

Description from OMIM: 102000

Related Diseases for Acroleukopathy, Symmetric

Symptoms & Phenotypes for Acroleukopathy, Symmetric

Human phenotypes related to Acroleukopathy, Symmetric:

33
# Description HPO Frequency HPO Source Accession
1 symmetric great toe depigmentation 33 HP:0200015

Symptoms via clinical synopsis from OMIM:

58
Skin:
symmetric great toe depigmentation

Clinical features from OMIM:

102000

Drugs & Therapeutics for Acroleukopathy, Symmetric

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetics of Endocrine Tumours - Familial Isolated Pituitary Adenoma - FIPA Recruiting NCT00461188

Search NIH Clinical Center for Acroleukopathy, Symmetric

Genetic Tests for Acroleukopathy, Symmetric

Anatomical Context for Acroleukopathy, Symmetric

MalaCards organs/tissues related to Acroleukopathy, Symmetric:

42
Pituitary

Publications for Acroleukopathy, Symmetric

Articles related to Acroleukopathy, Symmetric:

# Title Authors Year
1
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. ( 23371967 )
2013
2
Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. ( 23300914 )
2012
3
Large genomic deletions in AIP in pituitary adenoma predisposition. ( 18628514 )
2008
4
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. ( 17360484 )
2007
5
AIP gene in pituitary adenoma predisposition. ( 30290421 )
2007
6
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. ( 17341560 )
2007
7
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. ( 16728643 )
2006

Variations for Acroleukopathy, Symmetric

ClinVar genetic disease variations for Acroleukopathy, Symmetric:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AIP NM_003977.3(AIP): c.827C> T (p.Ala276Val) single nucleotide variant Uncertain significance rs61741147 GRCh38 Chromosome 11, 67490827: 67490827
2 AIP NM_003977.3(AIP): c.827C> T (p.Ala276Val) single nucleotide variant Uncertain significance rs61741147 GRCh37 Chromosome 11, 67258298: 67258298
3 AIP NM_003977.3(AIP): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs139459091 GRCh38 Chromosome 11, 67483184: 67483184
4 AIP NM_003977.3(AIP): c.26G> A (p.Arg9Gln) single nucleotide variant Uncertain significance rs139459091 GRCh37 Chromosome 11, 67250655: 67250655
5 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804
6 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
7 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh38 Chromosome 11, 67483198: 67483198
8 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669

Expression for Acroleukopathy, Symmetric

Search GEO for disease gene expression data for Acroleukopathy, Symmetric.

Pathways for Acroleukopathy, Symmetric

GO Terms for Acroleukopathy, Symmetric

Sources for Acroleukopathy, Symmetric

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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