MCID: HRD213
MIFTS: 8

Hereditary Poikiloderma

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hereditary Poikiloderma

MalaCards integrated aliases for Hereditary Poikiloderma:

Name: Hereditary Poikiloderma 58

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Orphanet 58 ORPHA222628

Summaries for Hereditary Poikiloderma

MalaCards based summary : Hereditary Poikiloderma is related to poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis and poikiloderma with neutropenia. An important gene associated with Hereditary Poikiloderma is FAM111B (Family With Sequence Similarity 111 Member B). Affiliated tissues include skin and testes.

Related Diseases for Hereditary Poikiloderma

Diseases related to Hereditary Poikiloderma via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.5
2 poikiloderma with neutropenia 11.3

Symptoms & Phenotypes for Hereditary Poikiloderma

Drugs & Therapeutics for Hereditary Poikiloderma

Search Clinical Trials , NIH Clinical Center for Hereditary Poikiloderma

Genetic Tests for Hereditary Poikiloderma

Anatomical Context for Hereditary Poikiloderma

MalaCards organs/tissues related to Hereditary Poikiloderma:

40
Skin, Testes

Publications for Hereditary Poikiloderma

Articles related to Hereditary Poikiloderma:

# Title Authors PMID Year
1
The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report. 61
28695158 2017
2
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 61
18925663 2008

Variations for Hereditary Poikiloderma

Expression for Hereditary Poikiloderma

Search GEO for disease gene expression data for Hereditary Poikiloderma.

Pathways for Hereditary Poikiloderma

GO Terms for Hereditary Poikiloderma

Sources for Hereditary Poikiloderma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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