Aliases & Classifications for Ainhum

MalaCards integrated aliases for Ainhum:

Name: Ainhum 57 12 73 20 44 15 70 32
Spontaneous Dactylolysis 20
Dactylolysis Spontanea 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
occurs most often among black africans


HPO:

31
ainhum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11329
OMIM® 57 103400
ICD9CM 34 136.0
MeSH 44 D000387
NCIt 50 C84544
SNOMED-CT 67 51404004
ICD10 32 L94.6
MedGen 41 C0001860
SNOMED-CT via HPO 68 19988008 238879003 263681008
UMLS 70 C0001860

Summaries for Ainhum

GARD : 20 Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions.

MalaCards based summary : Ainhum, also known as spontaneous dactylolysis, is related to keratosis and pseudoainhum. An important gene associated with Ainhum is LORICRIN (Loricrin Cornified Envelope Precursor Protein), and among its related pathways/superpathways are Signaling in Gap Junctions and Gap junction trafficking. Affiliated tissues include liver, bone and skin, and related phenotypes are amniotic constriction ring and ainhum

Disease Ontology : 12 A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later.

Wikipedia : 73 Ainhum (from Portuguese, pronounced īn-yoom´, i´num or ān´hum; also known as dactylolysis spontanea) is... more...

More information from OMIM: 103400

Related Diseases for Ainhum

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 keratosis 30.6 LORICRIN GJB2
2 pseudoainhum 30.0 LORICRIN GJB4 GJB2
3 palmoplantar keratosis 30.0 LORICRIN GJB4 GJB2
4 vohwinkel syndrome 29.9 LORICRIN GJB4 GJB2
5 knuckle pads 29.7 GJB4 GJB2
6 palmoplantar keratoderma and congenital alopecia 1 29.7 GJB4 GJB2
7 clouston syndrome 29.7 GJB4 GJB2
8 nevus, epidermal 29.5 GJB4 GJB2
9 erythrokeratoderma 28.8 PNPLA1 LORICRIN GJB4 GJB2
10 palmoplantar keratoderma and congenital alopecia 2 11.1
11 leprosy 3 10.1
12 hansen's disease 10.1
13 hypotrichosis 10.0 GJB4 GJB2
14 hypotrichosis-deafness syndrome 10.0 GJB4 GJB2
15 hereditary lymphedema ic 10.0 GJB4 GJB2
16 deafness, autosomal dominant 3a 10.0 GJB4 GJB2
17 bart-pumphrey syndrome 10.0 GJB4 GJB2
18 keratoderma, palmoplantar, with deafness 10.0 GJB4 GJB2
19 pityriasis rubra pilaris 10.0
20 neural tube defects 10.0
21 syringomyelia, noncommunicating isolated 10.0
22 spina bifida occulta 10.0
23 polyneuropathy 10.0
24 angiodysplasia 10.0
25 syringomyelia 10.0
26 focal acral hyperkeratosis 10.0
27 oculodentodigital dysplasia 9.9 GJB4 GJB2
28 deafness, autosomal recessive 1a 9.9 GJB4 GJB2
29 lichen sclerosus et atrophicus 9.8
30 peripheral dysostosis 9.8
31 alopecia, congenital 9.8
32 arthrogryposis and ectodermal dysplasia 9.8
33 polydactyly 9.8
34 crest syndrome 9.8
35 bone resorption disease 9.8
36 yaws 9.8
37 lepromatous leprosy 9.8
38 alcoholic liver cirrhosis 9.8
39 dysostosis 9.8
40 sensory peripheral neuropathy 9.8
41 dermatitis 9.8
42 purpura 9.8
43 pustulosis of palm and sole 9.8
44 liver cirrhosis 9.8
45 lupus erythematosus 9.8
46 psoriasis 9.8
47 alopecia 9.8
48 hypereosinophilic syndrome 9.8
49 erythrokeratoderma ''en cocardes'' 9.8
50 diffuse palmoplantar keratoderma 9.8

Graphical network of the top 20 diseases related to Ainhum:



Diseases related to Ainhum

Symptoms & Phenotypes for Ainhum

Human phenotypes related to Ainhum:

31
# Description HPO Frequency HPO Source Accession
1 amniotic constriction ring 31 HP:0009775
2 ainhum 31 HP:0031009

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Feet:
ainhum (spontaneous amputation) of toe (primarily 5th)

Clinical features from OMIM®:

103400 (Updated 20-May-2021)

Drugs & Therapeutics for Ainhum

Search Clinical Trials , NIH Clinical Center for Ainhum

Cochrane evidence based reviews: ainhum

Genetic Tests for Ainhum

Anatomical Context for Ainhum

MalaCards organs/tissues related to Ainhum:

40
Liver, Bone, Skin

Publications for Ainhum

Articles related to Ainhum:

(show top 50) (show all 182)
# Title Authors PMID Year
1
Ainhum: revisited. 61
33589488 2021
2
What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature. 61
33633820 2020
3
Pseudo-ainhum in a patient with CREST syndrome. 61
32557599 2020
4
Pseudo ainhum and facial malformation secondary to Streeter's dysplasia. 61
31222806 2019
5
Ainhum (dactylolysis spontanea): a rare case from Nepal. 61
31556107 2019
6
Unilateral Pseudo-Ainhum in Liver Cirrhosis. 61
31850112 2019
7
Ainhum, a rare mutilating dermatological disease in a female Cameroonian: a case report. 61
31401977 2019
8
Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. 61
27512197 2016
9
Ainhum - A Rare Case Report. 61
27190888 2016
10
Ainhum or Dactylolysis Spontanea: a Missing Toe. 61
26926903 2016
11
Ainhum: A Spot Diagnosis. 61
27011582 2015
12
Dactylolysis spontanea (ainhum). 61
26379327 2015
13
[Ainhum and "African acral keratoderma": three cases]. 61
25624138 2015
14
Ainhum leading to fifth-digit amputation. 61
25440870 2015
15
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
16
Reversal of pseudo-ainhum with acitretin in Camisa's syndrome. 61
25382531 2014
17
Autoamputation of the fifth digit: ainhum (dactylolysis spontanea). 61
24849649 2014
18
[Ainhum (spontaneous dactylolysis): about a clinical case]. 61
25667722 2014
19
Penile pseudo-ainhum associated with lichen sclerosus et atrophicus. 61
24195101 2013
20
Ainhum (dactylolysis spontanea): a case with hands and feet involvement. 61
23872549 2013
21
Pseudoainhum of the toe with underlying chronic lower-limb ischemia. 61
21693445 2011
22
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 61
20635335 2010
23
Vohwinkel syndrome: treatment of pseudo-ainhum. 61
20465619 2010
24
Surgical correction of pseudoainhum in chronic epidermolysis bullosa: a case report. 61
19394911 2009
25
[Ainhum disease (dactylolysis spontanea)]. 61
18370349 2008
26
[Foot health in the tropics]. 61
18630042 2008
27
A woman with a dangling digit. 61
17976142 2007
28
An unusual cause of ulceration: ainhum (dactylolysis spontanea). 61
17924881 2007
29
Destructive deformation of the digits with auto-amputation: a review of pseudo-ainhum. 61
17567298 2007
30
Clouston syndrome associated with severe congenital pseudo-ainhum. 61
17542906 2007
31
Olmsted syndrome. 61
17344790 2007
32
Congenital transverse deficiencies: bilateral presentation of the foot. 61
17067893 2006
33
Undiagnosed purpura: a case of autoerythrocyte sensitization syndrome associated with dermatitis artefacta and pseudo-ainhum. 61
17050937 2006
34
Dactylolysis spontanea or ainhum involving the big toe. 61
16331779 2005
35
Lower limb amputation in Jos, Nigeria. 61
15622938 2004
36
Ainhum (dactylolysis spontanea): a radiological survey of 6000 patients. 61
12500788 2002
37
A rare association of epidermal nevus syndrome and ainhum-like digital constrictions. 61
12220284 2002
38
Mal de Meleda without mutations in the ARS coding sequence. 61
11872406 2002
39
[Ainhum and pseudoainhum: clinical aspects and etiopathogenic hypotheses]. 61
12192715 2002
40
Images and diagnoses. Ainhum. 61
10786458 2000
41
Pseudo-ainhum in discoid lupus erythematosus. 61
9609990 1998
42
Ainhum in supernumery fingers. 61
20953032 1995
43
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. 61
7561409 1995
44
Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. 61
7748756 1995
45
Genodermatoses. 61
7805308 1994
46
Ainhum presenting to the accident and emergency department. 61
8110325 1993
47
[Pseudo-ainhum in Vohwinkel disease. Keratoma hereditarium mutilans]. 61
8276595 1993
48
Case report: ainhum (spontaneous dactylolysis) in a 65-year-old American black man. 61
1539609 1992
49
Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. 61
1532755 1992
50
Keratoderma hereditaria mutilans. Etretinate treatment and electron microscope studies. 61
1445089 1992

Variations for Ainhum

Expression for Ainhum

Search GEO for disease gene expression data for Ainhum.

Pathways for Ainhum

Pathways related to Ainhum according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.17 GJB4 GJB2
2
Show member pathways
10.61 GJB4 GJB2

GO Terms for Ainhum

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

# Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.96 GJB4 GJB2
2 connexin complex GO:0005922 8.62 GJB4 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 keratinocyte differentiation GO:0030216 9.16 PNPLA1 LORICRIN
2 cell communication GO:0007154 8.96 GJB4 GJB2
3 gap junction-mediated intercellular transport GO:1990349 8.62 GJB4 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.96 GJB4 GJB2
2 structural constituent of epidermis GO:0030280 8.62 PNPLA1 LORICRIN

Sources for Ainhum

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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