Aliases & Classifications for Acroleukopathy, Symmetric

MalaCards integrated aliases for Acroleukopathy, Symmetric:

Name: Acroleukopathy, Symmetric 57
Pituitary Adenoma Predisposition 57 29 6 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acroleukopathy, symmetric:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 102000
MedGen 42 C1863342
SNOMED-CT via HPO 69 263681008
UMLS 73 C1863340

Summaries for Acroleukopathy, Symmetric

MalaCards based summary : Acroleukopathy, Symmetric, also known as pituitary adenoma predisposition, is related to pituitary adenoma 1, multiple types and familial isolated pituitary adenoma. 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

Diseases related to Acroleukopathy, Symmetric via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pituitary adenoma 1, multiple types 11.8
2 familial isolated pituitary adenoma 11.5
3 pituitary adenoma 10.2
4 adenoma 10.2

Symptoms & Phenotypes for Acroleukopathy, Symmetric

Symptoms via clinical synopsis from OMIM:

57
Skin:
symmetric great toe depigmentation


Clinical features from OMIM:

102000

Human phenotypes related to Acroleukopathy, Symmetric:

32
# Description HPO Frequency HPO Source Accession
1 symmetric great toe depigmentation 32 HP:0200015

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

Genetic tests related to Acroleukopathy, Symmetric:

# Genetic test Affiliating Genes
1 Pituitary Adenoma Predisposition 29

Anatomical Context for Acroleukopathy, Symmetric

MalaCards organs/tissues related to Acroleukopathy, Symmetric:

41
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 I+-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
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.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh37 Chromosome 11, 67250669: 67250669
2 AIP NM_003977.3(AIP): c.40C> T (p.Gln14Ter) single nucleotide variant Pathogenic rs104894194 GRCh38 Chromosome 11, 67483198: 67483198
3 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh37 Chromosome 11, 67258275: 67258275
4 AIP NM_003977.3(AIP): c.804C> A (p.Tyr268Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908356 GRCh38 Chromosome 11, 67490804: 67490804

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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