Aliases & Classifications for Acroleukopathy, Symmetric

MalaCards integrated aliases for Acroleukopathy, Symmetric:

Name: Acroleukopathy, Symmetric 57 6
Pituitary Adenoma Predisposition 70

Characteristics:

OMIM®:

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


HPO:

31
acroleukopathy, symmetric:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 102000
MedGen 41 C1863342
SNOMED-CT via HPO 68 263681008
UMLS 70 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, breast and prostate, and related phenotype is symmetric great toe depigmentation.

More information from OMIM: 102000

Related Diseases for Acroleukopathy, Symmetric

Symptoms & Phenotypes for Acroleukopathy, Symmetric

Human phenotypes related to Acroleukopathy, Symmetric:

31
# Description HPO Frequency HPO Source Accession
1 symmetric great toe depigmentation 31 HP:0200015

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
symmetric great toe depigmentation

Clinical features from OMIM®:

102000 (Updated 20-May-2021)

Drugs & Therapeutics for Acroleukopathy, Symmetric

Search Clinical Trials , NIH Clinical Center for Acroleukopathy, Symmetric

Genetic Tests for Acroleukopathy, Symmetric

Anatomical Context for Acroleukopathy, Symmetric

MalaCards organs/tissues related to Acroleukopathy, Symmetric:

40
Pituitary, Breast, Prostate

Publications for Acroleukopathy, Symmetric

Articles related to Acroleukopathy, Symmetric:

(show all 29)
# Title Authors PMID Year
1
Phenotypic and genotypic features of a large kindred with a germline AIP variant. 61
32324286 2020
2
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. 61
32336638 2020
3
Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child. 61
31125088 2019
4
AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. 61
24662816 2015
5
The AIP (aryl hydrocarbon receptor-interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. 61
24366639 2014
6
Should aip gene screening be recommended in family members of FIPA patients with R16H variant? 61
22915287 2013
7
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. 61
23371967 2013
8
The molecular pathogenesis of corticotroph tumours. 61
22098190 2012
9
Overview of genetic testing in patients with pituitary adenomas. 61
22503805 2012
10
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. 61
23300914 2012
11
No evidence of RET germline mutations in familial pituitary adenoma. 61
20956458 2011
12
Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma. 61
21078971 2010
13
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. 61
20685857 2010
14
Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. 61
20709796 2010
15
Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma. 61
30764022 2010
16
Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene. 61
19684062 2009
17
The pathophysiology of pituitary adenomas. 61
19945021 2009
18
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma. 61
19443539 2009
19
Large genomic deletions in AIP in pituitary adenoma predisposition. 61
18628514 2008
20
Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. 61
18410548 2008
21
No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. 61
17914118 2007
22
AIP gene in pituitary adenoma predisposition. 61
30290421 2007
23
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. 61
17341560 2007
24
The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. 61
17371465 2007
25
Susceptibility to pituitary neoplasia related to MEN-1, CDKN1B and AIP mutations: an update. 61
17613551 2007
26
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. 61
17360484 2007
27
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. 61
17242703 2007
28
Aryl hydrocarbon receptor-interacting protein and acromegaly. 61
18174729 2007
29
Pituitary adenoma predisposition caused by germline mutations in the AIP gene. 61
16728643 2006

Variations for Acroleukopathy, Symmetric

ClinVar genetic disease variations for Acroleukopathy, Symmetric:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AIP NM_003977.4(AIP):c.827C>T (p.Ala276Val) SNV Uncertain significance 485056 rs61741147 GRCh37: 11:67258298-67258298
GRCh38: 11:67490827-67490827
2 AIP NM_003977.4(AIP):c.26G>A (p.Arg9Gln) SNV Uncertain significance 485052 rs139459091 GRCh37: 11:67250655-67250655
GRCh38: 11:67483184-67483184

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
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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