MCID: PSD026
MIFTS: 29

Pseudoainhum

Categories: Rare diseases

Aliases & Classifications for Pseudoainhum

MalaCards integrated aliases for Pseudoainhum:

Name: Pseudoainhum 53 73

Classifications:



External Ids:

UMLS 73 C0334166

Summaries for Pseudoainhum

MalaCards based summary : Pseudoainhum is related to autosomal recessive congenital ichthyosis and palmoplantar keratosis. 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 and eye, and related phenotype is no phenotypic analysis.

Wikipedia : 76 Amniotic band constriction (also known as "amniotic band syndrome", "ADAM complex", "Amniotic band... more...

Related Diseases for Pseudoainhum

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

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive congenital ichthyosis 29.9 GJB4 LOR
2 palmoplantar keratosis 29.8 GJB2 GJB3 LOR
3 ainhum 29.7 GJA1 GJB2 LOR
4 knuckle pads 28.9 GJA1 GJB2 GJB3 GJB4 GJB6
5 palmoplantar keratoderma and congenital alopecia 1 11.0
6 palmoplantar keratoderma and congenital alopecia 2 11.0
7 constricting bands, congenital 11.0
8 vohwinkel syndrome, variant form 11.0
9 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 11.0
10 palmoplantar keratoderma and woolly hair 11.0
11 ichthyosis 10.3
12 psoriasis 10.2
13 keratosis 10.1 GJA1 GJB2
14 porokeratosis 10.0
15 deafness, autosomal dominant 24 10.0 GJB2 GJB6
16 deafness, x-linked 2 10.0 GJB2 GJB6
17 dfnb1 10.0 GJB2 GJB6
18 deafness, autosomal recessive 23 10.0 GJB2 GJB6
19 congenital cytomegalovirus 10.0 GJB2 GJB6
20 deafness, autosomal recessive 93 10.0 GJB2 GJB3
21 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
22 deafness, autosomal recessive 28 10.0 GJB2 GJB3
23 deafness, autosomal recessive 16 10.0 GJB2 GJB6
24 keratitis, hereditary 9.9 GJB2 GJB6
25 deafness, autosomal recessive 67 9.9 GJB2 GJB3
26 drug-induced hearing loss 9.9 GJB2 GJB3
27 deafness, autosomal dominant 3a 9.9 GJB2 GJB4
28 corneal disease 9.9 GJB2 GJB6
29 porokeratosis 1, multiple types 9.9
30 protoporphyria, erythropoietic, 1 9.9
31 scleroderma, familial progressive 9.9
32 tuberous sclerosis 1 9.9
33 papillon-lefevre syndrome 9.9
34 mal de meleda 9.9
35 reynolds syndrome 9.9
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
37 erythrokeratodermia variabilis et progressiva 5 9.9
38 limb ischemia 9.9
39 gout 9.9
40 tuberous sclerosis 9.9
41 epidermolysis bullosa 9.9
42 ischemia 9.9
43 turner syndrome 9.9
44 localized scleroderma 9.9
45 linear porokeratosis 9.9
46 linear scleroderma 9.9
47 vohwinkel syndrome 9.9 GJB2 GJB6 LOR
48 autosomal dominant nonsyndromic deafness 9.8 GJB2 GJB3
49 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB3 GJB6
50 vestibular disease 9.8 GJB2 GJB3 GJB6

Graphical network of the top 20 diseases related to Pseudoainhum:



Diseases related to Pseudoainhum

Symptoms & Phenotypes for Pseudoainhum

MGI Mouse Phenotypes related to Pseudoainhum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 GJA1 GJB2 GJB3 GJB6

Drugs & Therapeutics for Pseudoainhum

Search Clinical Trials , NIH Clinical Center for Pseudoainhum

Genetic Tests for Pseudoainhum

Anatomical Context for Pseudoainhum

MalaCards organs/tissues related to Pseudoainhum:

41
Skin, Eye

Publications for Pseudoainhum

Articles related to Pseudoainhum:

(show all 41)
# Title Authors Year
1
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. ( 29469768 )
2018
2
Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum. ( 30264492 )
2018
3
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
4
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
5
An Alternative Surgical Approach to Pseudoainhum: A Case Report. ( 26961414 )
2016
6
Hanging on by a thread: a rare case of secondary pseudoainhum. ( 26838543 )
2016
7
Pseudoainhum in Systemic Sclerosis. ( 27803345 )
2016
8
Secondary pseudoainhum in a patient with turner syndrome. ( 25288716 )
2014
9
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. ( 24962725 )
2014
10
Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature. ( 23879555 )
2013
11
Pseudoainhum in acute psoriasis. ( 23217486 )
2012
12
Pseudoainhum in psoriasis. ( 22707784 )
2012
13
Pseudoainhum of the toe with underlying chronic lower-limb ischemia. ( 21693445 )
2011
14
Papillon-Lefevre syndrome with pseudoainhum. ( 23130191 )
2010
15
Pseudoainhum in gout: a case-report. ( 20554238 )
2010
16
Congenital linear porokeratosis with pseudoainhum. ( 20956098 )
2010
17
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. ( 19416251 )
2009
18
Surgical correction of pseudoainhum in chronic epidermolysis bullosa: a case report. ( 19394911 )
2009
19
A case of infantile psoriasis with pseudoainhum successfully treated with topical pimecrolimus and low-dose narrowband UVB phototherapy. ( 17062058 )
2006
20
Bilateral pseudoainhum in lamellar ichthyosis. ( 15078369 )
2004
21
Papillon-LefA"vre syndrome associated with pseudoainhum. ( 15280834 )
2004
22
Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. ( 15069452 )
2004
23
Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes. ( 12950335 )
2003
24
Pseudoainhum in chronic psoriasis. ( 14632817 )
2003
25
Digital constriction bands in pseudoainhum: morphological radiographic, and histological analysis. ( 11506331 )
2001
26
Pseudoainhum of all fingers associated with Reynolds' syndrome and breast cancer: report of a case and review of the literature. ( 11174422 )
2001
27
Hereditary bullous acrokeratotic poikiloderma of Weary-Kindler associated with pseudoainhum and sclerotic bands. ( 9268754 )
1997
28
A case of atypical localized scleroderma presenting with pseudoainhum: treatment with tranilast, an anti-fibrotic agent. ( 8740281 )
1996
29
Pseudoainhum associated with linear scleroderma. ( 8961892 )
1996
30
Mal de Meleda keratoderma with pseudoainhum. ( 8457455 )
1993
31
Pseudoainhum in porokeratosis of Mibelli. ( 1563285 )
1992
32
Pseudoainhum in Clouston's disease. ( 2335421 )
1990
33
Pseudoainhum and erythropoietic protoporphyria. ( 3342170 )
1988
34
Psoriasis presenting with pseudoainhum. ( 7107993 )
1982
35
Pseudoainhum associated with plica neuropathica. ( 7318501 )
1981
36
Factitious pseudoainhum of the nipple. ( 759125 )
1979
37
Congenital annular bands (pseudoainhum). Associtaion with other congenital abnormalities. ( 4407935 )
1974
38
Pseudoainhum constricting bands of the extremities. ( 4334964 )
1972
39
CONGENITAL PSEUDOAINHUM OF THE FINGERS. REPORT OF A CASE. ( 14149713 )
1964
40
AINHUM AND PSEUDOAINHUM. REPORT OF THREE CASES. ( 14042848 )
1963
41
Pseudoainhum; report of congenital case involving several fingers and left wrist. ( 13091381 )
1953

Variations for Pseudoainhum

Expression for Pseudoainhum

Search GEO for disease gene expression data for Pseudoainhum.

Pathways for Pseudoainhum

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 GJA1 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.35 GJA1 GJB2 GJB3 GJB4 GJB6
3 lateral plasma membrane GO:0016328 9.26 GJA1 GJB2
4 connexin complex GO:0005922 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.67 GJA1 GJB2 GJB3
2 negative regulation of cell proliferation GO:0008285 9.63 GJA1 GJB6 KANK2
3 response to estradiol GO:0032355 9.48 GJA1 GJB2
4 inner ear development GO:0048839 9.43 GJB2 GJB6
5 response to lipopolysaccharide GO:0032496 9.43 GJA1 GJB2 GJB6
6 response to retinoic acid GO:0032526 9.4 GJA1 GJB2
7 response to ischemia GO:0002931 9.37 GJA1 GJB2
8 decidualization GO:0046697 9.32 GJA1 GJB2
9 gap junction assembly GO:0016264 9.16 GJA1 GJB2
10 cell communication GO:0007154 9.02 GJA1 GJB2 GJB3 GJB4 GJB6
11 epididymis development GO:1905867 8.96 GJA1 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.8 GJA1 GJB2 GJB3

Sources for Pseudoainhum

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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