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 59

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 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:

41
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. 38
28695158 2017
2
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. 38
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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