MCID: PSD026
MIFTS: 27

Pseudoainhum

Categories: Rare diseases

Aliases & Classifications for Pseudoainhum

MalaCards integrated aliases for Pseudoainhum:

Name: Pseudoainhum 52 71

Classifications:



External Ids:

UMLS 71 C0334166

Summaries for Pseudoainhum

MalaCards based summary : Pseudoainhum is related to ainhum and palmoplantar keratoderma and congenital alopecia 1. An important gene associated with Pseudoainhum is KANK2 (KN Motif And Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, eye and breast, and related phenotypes are hearing/vestibular/ear and no phenotypic analysis

Wikipedia : 74 Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown... more...

Related Diseases for Pseudoainhum

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.6 LORICRIN GJB2
2 palmoplantar keratoderma and congenital alopecia 1 30.3 GJB4 GJB3 GJB2 GJA1
3 vohwinkel syndrome 30.0 LORICRIN GJB6 GJB4 GJB3 GJB2
4 porokeratosis 29.9 LORICRIN GJB2
5 ichthyosis 29.6 LORICRIN GJB6 GJB2 GJA1
6 autosomal recessive congenital ichthyosis 29.4 LORICRIN GJB4 GJB3
7 sensorineural hearing loss 29.1 GJB6 GJB3 GJB2
8 palmoplantar keratosis 28.0 LORICRIN GJB6 GJB4 GJB3 GJB2 GJA1
9 knuckle pads 27.9 GJB6 GJB4 GJB3 GJB2 GJA1
10 skin disease 27.4 LORICRIN GJB6 GJB4 GJB3 GJB2 GJA1
11 palmoplantar keratoderma and congenital alopecia 2 11.3
12 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 11.2
13 vohwinkel syndrome, variant form 11.2
14 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 11.2
15 palmoplantar keratoderma and woolly hair 11.2
16 pustulosis of palm and sole 10.3
17 psoriasis 10.3
18 systemic scleroderma 10.2
19 papillon-lefevre syndrome 10.1
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
21 keratosis 10.1 GJB2 GJA1
22 alcohol dependence 10.0
23 pityriasis rubra pilaris 10.0
24 porokeratosis 1, multiple types 10.0
25 protoporphyria, erythropoietic, 1 10.0
26 scleroderma, familial progressive 10.0
27 chromosome 2q35 duplication syndrome 10.0
28 tuberous sclerosis 1 10.0
29 constricting bands, congenital 10.0
30 mal de meleda 10.0
31 alopecia, congenital 10.0
32 branchiootic syndrome 1 10.0
33 reynolds syndrome 10.0
34 peripheral vascular disease 10.0
35 limb ischemia 10.0
36 primary biliary cirrhosis 10.0
37 neutropenia 10.0
38 gout 10.0
39 tuberous sclerosis 10.0
40 polyneuropathy 10.0
41 gonadal dysgenesis 10.0
42 ectropion 10.0
43 epidermolysis bullosa 10.0
44 ischemia 10.0
45 turner syndrome 10.0
46 peripheral nervous system disease 10.0
47 periodontitis 10.0
48 cataract 10.0
49 localized scleroderma 10.0
50 vasculitis 10.0

Graphical network of the top 20 diseases related to Pseudoainhum:



Diseases related to Pseudoainhum

Symptoms & Phenotypes for Pseudoainhum

MGI Mouse Phenotypes related to Pseudoainhum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.26 GJA1 GJB2 GJB3 GJB6
2 no phenotypic analysis MP:0003012 8.92 GJA1 GJB2 GJB3 GJB6

Drugs & Therapeutics for Pseudoainhum

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of SLURP-1 in Melanoma and Melanoma Stem Cells Unknown status NCT01281722

Search NIH Clinical Center for Pseudoainhum

Genetic Tests for Pseudoainhum

Anatomical Context for Pseudoainhum

MalaCards organs/tissues related to Pseudoainhum:

40
Skin, Eye, Breast

Publications for Pseudoainhum

Articles related to Pseudoainhum:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Ischemic Risk in Collodion Baby: An Orthopaedic Perspective. 61
32015921 2020
2
Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum. 61
30264492 2019
3
Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. 61
30809564 2019
4
A Rare Presentation of Psychotic Depression with Suicidality in a Case of Papillon-Lefèvre Syndrome. 61
30093750 2018
5
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. 61
29469768 2018
6
Pseudoainhum and autoamputation associated with lamellar ichthyosis. 61
28936990 2017
7
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. 61
28730635 2017
8
Loss of epidermal AP1 transcription factor function reduces filaggrin level, alters chemokine expression and produces an ichthyosis-related phenotype. 61
28569792 2017
9
Pseudoainhum in Systemic Sclerosis. 61
27803345 2016
10
A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family. 61
29226984 2016
11
A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation. 61
27477174 2016
12
Olmsted Syndrome: Rare Occurrence in Four Siblings. 61
27293270 2016
13
An Alternative Surgical Approach to Pseudoainhum: A Case Report. 61
26961414 2016
14
Hanging on by a thread: a rare case of secondary pseudoainhum. 61
26838543 2016
15
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. 61
26464567 2015
16
Olmsted syndrome: clinical, molecular and therapeutic aspects. 61
25886873 2015
17
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype. 61
25050598 2015
18
Familial ainhum: a case report of multiple toe involvement in a father and son, staging of ainhum with insight into different types of constricting bands. 61
25657437 2015
19
Secondary pseudoainhum in a patient with Turner syndrome. 61
25288716 2014
20
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. 61
24962725 2014
21
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. 61
24758389 2014
22
Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature. 61
23879555 2014
23
Connecting with connexins. 61
23808595 2013
24
Collodion baby and loricrin keratoderma: a case report and mutation analysis. 61
22831754 2013
25
Pseudoainhum in acute psoriasis. 61
23217486 2012
26
Mal de meleda with lip involvement: a report of two cases. 61
23112362 2012
27
Pseudoainhum in psoriasis. 61
22707784 2012
28
Olmsted syndrome: report of two cases. 61
22121289 2011
29
Pseudoainhum of the toe with underlying chronic lower-limb ischemia. 61
21693445 2011
30
Congenital linear porokeratosis with pseudoainhum. 61
20956098 2010
31
Pseudoainhum in gout: a case-report. 61
20554238 2010
32
Papillon-Lefevre syndrome with pseudoainhum. 61
23130191 2010
33
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. 61
19692209 2009
34
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. 61
19416251 2009
35
Surgical correction of pseudoainhum in chronic epidermolysis bullosa: a case report. 61
19394911 2009
36
Unusual molecular findings in Kindler syndrome. 61
17854379 2007
37
Venous ulcers of the lower limbs due to congenital thalidomide-related valve defect. 61
17652228 2007
38
Lamellar ichthyosis in a Saudi kindred. 61
17215621 2007
39
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. 61
17459296 2006
40
A case of infantile psoriasis with pseudoainhum successfully treated with topical pimecrolimus and low-dose narrowband UVB phototherapy. 61
17062058 2006
41
[Pseudoainhum and peripheral neuropathy]. 61
17072197 2006
42
Papillon-Lefèvre syndrome associated with pseudoainhum. 61
15280834 2004
43
Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. 61
15069452 2004
44
Bilateral pseudoainhum in lamellar ichthyosis. 61
15078369 2004
45
Pseudoainhum in chronic psoriasis. 61
14632817 2003
46
Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes. 61
12950335 2003
47
[Complications of pseudoainhum]. 61
12590313 2003
48
Kindler syndrome in a Saudi kindred. 61
12472544 2002
49
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. 61
12072018 2002
50
[Ainhum and pseudoainhum: clinical aspects and etiopathogenic hypotheses]. 61
12192715 2002

Variations for Pseudoainhum

Expression for Pseudoainhum

Search GEO for disease gene expression data for Pseudoainhum.

Pathways for Pseudoainhum

Pathways related to Pseudoainhum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 GJB6 GJB4 GJB3 GJB2 GJA1
2
Show member pathways
12.42 GJB6 GJB4 GJB3 GJB2 GJA1
3
Show member pathways
11.95 GJB3 GJB2 GJA1
4
Show member pathways
11.84 GJB6 GJB4 GJB3 GJB2 GJA1
5
Show member pathways
11.01 GJB6 GJB4 GJB3 GJB2 GJA1
6
Show member pathways
10.21 GJB2 GJA1

GO Terms for Pseudoainhum

Cellular components related to Pseudoainhum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 GJB6 GJB4 GJB3 GJB2 GJA1
2 gap junction GO:0005921 9.35 GJB6 GJB4 GJB3 GJB2 GJA1
3 connexin complex GO:0005922 9.02 GJB6 GJB4 GJB3 GJB2 GJA1

Biological processes related to Pseudoainhum according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.77 GJB6 GJB4 GJB3 GJB2 GJA1
2 cell-cell signaling GO:0007267 9.72 GJB6 GJB4 GJB3 GJB2 GJA1
3 negative regulation of cell proliferation GO:0008285 9.71 KANK2 GJB6 GJA1
4 response to lipopolysaccharide GO:0032496 9.61 GJB6 GJB2 GJA1
5 response to ischemia GO:0002931 9.52 GJB2 GJA1
6 inner ear development GO:0048839 9.51 GJB6 GJB2
7 response to retinoic acid GO:0032526 9.49 GJB2 GJA1
8 maintenance of permeability of blood-brain barrier GO:0035633 9.48 GJB6 GJA1
9 decidualization GO:0046697 9.46 GJB2 GJA1
10 gap junction assembly GO:0016264 9.43 GJB6 GJB2 GJA1
11 epididymis development GO:1905867 9.4 GJB2 GJA1
12 cell communication by electrical coupling GO:0010644 9.33 GJB6 GJB2 GJA1
13 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB4 GJB2
14 cell communication GO:0007154 9.02 GJB6 GJB4 GJB3 GJB2 GJA1

Molecular functions related to Pseudoainhum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJB6 GJB2 GJA1
2 gap junction channel activity GO:0005243 9.02 GJB6 GJB4 GJB3 GJB2 GJA1

Sources for Pseudoainhum

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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