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MCID: PSD026
MIFTS: 25

Pseudoainhum

Categories: Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Pseudoainhum

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MalaCards integrated aliases for Pseudoainhum:

Name: Pseudoainhum 20 71

Classifications:

MalaCards categories:
Global: Rare diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C0334166
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Summaries for Pseudoainhum

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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 eye, 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...

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Related Diseases for Pseudoainhum

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 ainhum 30.0 LORICRIN GJB4 GJB2
2 palmoplantar keratoderma and congenital alopecia 1 29.8 GJB6 GJB4 GJB3 GJB2 GJA1
3 porokeratosis 29.8 LORICRIN GJB2
4 vohwinkel syndrome 29.7 LORICRIN GJB6 GJB4 GJB3 GJB2 GJA1
5 ichthyosis 29.6 LORICRIN GJB6 GJB2 GJA1
6 palmoplantar keratosis 28.8 LORICRIN GJB4 GJB3 GJB2 GJA1
7 sensorineural hearing loss 28.8 GJB6 GJB3 GJB2
8 knuckle pads 28.2 GJB6 GJB4 GJB3 GJB2 GJA1
9 skin disease 27.9 LORICRIN GJB6 GJB4 GJB3 GJB2 GJA1
10 palmoplantar keratoderma and congenital alopecia 2 11.0
11 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 10.9
12 vohwinkel syndrome, variant form 10.9
13 olmsted syndrome 1 10.9
14 palmoplantar keratoderma and woolly hair 10.9
15 autosomal recessive congenital ichthyosis 10.2
16 pustulosis of palm and sole 10.2
17 psoriasis 10.2
18 systemic scleroderma 10.0
19 nonsyndromic hearing loss and deafness, dfna3 10.0 GJB6 GJB2
20 purulent labyrinthitis 10.0 GJB6 GJB2
21 labyrinthitis 10.0 GJB6 GJB2
22 viral labyrinthitis 10.0 GJB6 GJB2
23 congenital cytomegalovirus 10.0 GJB6 GJB2
24 papillon-lefevre syndrome 10.0
25 pachyonychia congenita 1 9.9 LORICRIN GJB6
26 skin atrophy 9.9 LORICRIN GJA1
27 familial woolly hair syndrome 9.9 KANK2 GJA1
28 branchiootorenal syndrome 9.9 GJB6 GJB2
29 leukodystrophy, hypomyelinating, 2 9.9 GJB4 GJA1
30 deafness, autosomal dominant 2b 9.8 GJB3 GJB2
31 drug-induced hearing loss 9.8 GJB3 GJB2
32 deafness, autosomal recessive 91 9.8 GJB3 GJB2
33 pendred syndrome 9.8 GJB6 GJB2
34 deafness, autosomal dominant 2a 9.8 GJB3 GJB2
35 deafness, autosomal dominant 9 9.8 GJB3 GJB2
36 alcohol dependence 9.8
37 pityriasis rubra pilaris 9.8
38 porokeratosis 1, multiple types 9.8
39 protoporphyria, erythropoietic, 1 9.8
40 scleroderma, familial progressive 9.8
41 chromosome 2q35 duplication syndrome 9.8
42 tuberous sclerosis 1 9.8
43 constricting bands, congenital 9.8
44 mal de meleda 9.8
45 alopecia, congenital 9.8
46 branchiootic syndrome 1 9.8
47 reynolds syndrome 9.8
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
49 peripheral vascular disease 9.8
50 limb ischemia 9.8

Graphical network of the top 20 diseases related to Pseudoainhum:



Diseases related to Pseudoainhum
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Symptoms & Phenotypes for Pseudoainhum

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MGI Mouse Phenotypes related to Pseudoainhum:

46
# 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
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Drugs & Therapeutics for Pseudoainhum

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Search Clinical Trials , NIH Clinical Center for Pseudoainhum

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Genetic Tests for Pseudoainhum

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Anatomical Context for Pseudoainhum

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MalaCards organs/tissues related to Pseudoainhum:

40
Eye
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Publications for Pseudoainhum

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Articles related to Pseudoainhum:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Surgical management of pseudoainhum in loricrin keratoderma. 61
32995433 2020
2
Ischemic Risk in Collodion Baby: An Orthopaedic Perspective. 61
32015921 2020
3
Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum. 61
30264492 2019
4
Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. 61
30809564 2019
5
A Rare Presentation of Psychotic Depression with Suicidality in a Case of Papillon-Lefèvre Syndrome. 61
30093750 2018
6
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. 61
29469768 2018
7
Pseudoainhum and autoamputation associated with lamellar ichthyosis. 61
28936990 2017
8
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. 61
28730635 2017
9
Loss of epidermal AP1 transcription factor function reduces filaggrin level, alters chemokine expression and produces an ichthyosis-related phenotype. 61
28569792 2017
10
Pseudoainhum in Systemic Sclerosis. 61
27803345 2016
11
A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family. 61
29226984 2016
12
A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation. 61
27477174 2016
13
Olmsted Syndrome: Rare Occurrence in Four Siblings. 61
27293270 2016
14
An Alternative Surgical Approach to Pseudoainhum: A Case Report. 61
26961414 2016
15
Hanging on by a thread: a rare case of secondary pseudoainhum. 61
26838543 2016
16
Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin. 61
26464567 2015
17
Olmsted syndrome: clinical, molecular and therapeutic aspects. 61
25886873 2015
18
Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype. 61
25050598 2015
19
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
20
Secondary pseudoainhum in a patient with Turner syndrome. 61
25288716 2014
21
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
22
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. 61
24758389 2014
23
Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature. 61
23879555 2014
24
Connecting with connexins. 61
23808595 2013
25
Collodion baby and loricrin keratoderma: a case report and mutation analysis. 61
22831754 2013
26
Pseudoainhum in acute psoriasis. 61
23217486 2012
27
Mal de meleda with lip involvement: a report of two cases. 61
23112362 2012
28
Pseudoainhum in psoriasis. 61
22707784 2012
29
Olmsted syndrome: report of two cases. 61
22121289 2011
30
Pseudoainhum of the toe with underlying chronic lower-limb ischemia. 61
21693445 2011
31
Congenital linear porokeratosis with pseudoainhum. 61
20956098 2010
32
Pseudoainhum in gout: a case-report. 61
20554238 2010
33
Papillon-Lefevre syndrome with pseudoainhum. 61
23130191 2010
34
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. 61
19692209 2009
35
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. 61
19416251 2009
36
Surgical correction of pseudoainhum in chronic epidermolysis bullosa: a case report. 61
19394911 2009
37
Unusual molecular findings in Kindler syndrome. 61
17854379 2007
38
Venous ulcers of the lower limbs due to congenital thalidomide-related valve defect. 61
17652228 2007
39
Lamellar ichthyosis in a Saudi kindred. 61
17215621 2007
40
Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. 61
17459296 2006
41
A case of infantile psoriasis with pseudoainhum successfully treated with topical pimecrolimus and low-dose narrowband UVB phototherapy. 61
17062058 2006
42
[Pseudoainhum and peripheral neuropathy]. 61
17072197 2006
43
Papillon-Lefèvre syndrome associated with pseudoainhum. 61
15280834 2004
44
Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. 61
15069452 2004
45
Bilateral pseudoainhum in lamellar ichthyosis. 61
15078369 2004
46
Pseudoainhum in chronic psoriasis. 61
14632817 2003
47
Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes. 61
12950335 2003
48
[Complications of pseudoainhum]. 61
12590313 2003
49
Kindler syndrome in a Saudi kindred. 61
12472544 2002
50
A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. 61
12072018 2002
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Variations for Pseudoainhum

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Expression for Pseudoainhum

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Search GEO for disease gene expression data for Pseudoainhum.
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Pathways for Pseudoainhum

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Pathways related to Pseudoainhum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 12.82 GJB6 GJB4 GJB3 GJB2 GJA1
2
G-Beta Gamma Signaling 63
Show member pathways
 12.42 GJB6 GJB4 GJB3 GJB2 GJA1
3
Development Slit-Robo signaling 23
Show member pathways
 11.95 GJB3 GJB2 GJA1
4
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 11.84 GJB6 GJB4 GJB3 GJB2 GJA1
5
Gap junction trafficking 65
Show member pathways
 11.01 GJB6 GJB4 GJB3 GJB2 GJA1
6
Transport of connexins along the secretory pathway 65
Show member pathways
 10.21 GJB2 GJA1
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GO Terms for Pseudoainhum

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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 15)
# 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 estradiol GO:0032355 9.55 GJB2 GJA1
6 response to ischemia GO:0002931 9.52 GJB2 GJA1
7 inner ear development GO:0048839 9.51 GJB6 GJB2
8 response to retinoic acid GO:0032526 9.49 GJB2 GJA1
9 maintenance of permeability of blood-brain barrier GO:0035633 9.48 GJB6 GJA1
10 decidualization GO:0046697 9.46 GJB2 GJA1
11 gap junction assembly GO:0016264 9.43 GJB6 GJB2 GJA1
12 epididymis development GO:1905867 9.4 GJB2 GJA1
13 cell communication by electrical coupling GO:0010644 9.33 GJB6 GJB2 GJA1
14 gap junction-mediated intercellular transport GO:1990349 9.13 GJB6 GJB4 GJB2
15 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
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Sources for Pseudoainhum

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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