Aliases & Classifications for Ainhum

MalaCards integrated aliases for Ainhum:

Name: Ainhum 53 12 72 49 41 14 69
Spontaneous Dactylolysis 49
Dactylolysis Spontanea 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
occurs most often among black africans


HPO:

31
ainhum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 103400
Disease Ontology 12 DOID:11329
ICD10 32 L94.6
ICD9CM 34 136.0
MeSH 41 D000387
NCIt 46 C84544
SNOMED-CT 64 38528001 51404004
MedGen 39 C0001860
SNOMED-CT via HPO 65 263681008 19988008 238879003
UMLS 69 C0001860

Summaries for Ainhum

NIH Rare Diseases : 49 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.  Last updated: 5/8/2014

MalaCards based summary : Ainhum, also known as spontaneous dactylolysis, is related to vohwinkel syndrome and clouston syndrome, and has symptoms including amniotic constriction ring An important gene associated with Ainhum is LOR (Loricrin), and among its related pathways/superpathways are Gap junction trafficking and Transport of connexins along the secretory pathway. Affiliated tissues include skin.

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

Description from OMIM: 103400

Related Diseases for Ainhum

Graphical network of the top 20 diseases related to Ainhum:



Diseases related to Ainhum

Symptoms & Phenotypes for Ainhum

Symptoms via clinical synopsis from OMIM:

53
Skeletal Feet:
ainhum (spontaneous amputation) of toe (primarily 5th)


Clinical features from OMIM:

103400

Human phenotypes related to Ainhum:

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

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:

38
Skin

Publications for Ainhum

Articles related to Ainhum:

(show top 50) (show all 108)
# Title Authors Year
1
Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. ( 27512197 )
2016
2
Ainhum - A Rare Case Report. ( 27190888 )
2016
3
Ainhum or Dactylolysis Spontanea: a Missing Toe. ( 26926903 )
2016
4
Dactylolysis spontanea (ainhum). ( 26379327 )
2015
5
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. ( 25657437 )
2015
6
Ainhum: A Spot Diagnosis. ( 27011582 )
2015
7
Ainhum leading to fifth-digit amputation. ( 25440870 )
2015
8
Reversal of pseudo-ainhum with acitretin in Camisa's syndrome. ( 25382531 )
2014
9
Autoamputation of the fifth digit: ainhum (dactylolysis spontanea). ( 24849649 )
2014
10
Penile pseudo-ainhum associated with lichen sclerosus et atrophicus. ( 24195101 )
2013
11
Ainhum (dactylolysis spontanea): a case with hands and feet involvement. ( 23872549 )
2013
12
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
13
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. ( 20635335 )
2010
14
Destructive deformation of the digits with auto-amputation: a review of pseudo-ainhum. ( 17567298 )
2007
15
An unusual cause of ulceration: ainhum (dactylolysis spontanea). ( 17924881 )
2007
16
Clouston syndrome associated with severe congenital pseudo-ainhum. ( 17542906 )
2007
17
Undiagnosed purpura: a case of autoerythrocyte sensitization syndrome associated with dermatitis artefacta and pseudo-ainhum. ( 17050937 )
2006
18
Dactylolysis spontanea or ainhum involving the big toe. ( 16331779 )
2005
19
Ainhum (dactylolysis spontanea): a radiological survey of 6000 patients. ( 12500788 )
2002
20
A rare association of epidermal nevus syndrome and ainhum-like digital constrictions. ( 12220284 )
2002
21
Images and diagnoses. Ainhum. ( 10786458 )
2000
22
Pseudo-ainhum in discoid lupus erythematosus. ( 9609990 )
1998
23
Ainhum in supernumery fingers. ( 20953032 )
1995
24
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
25
Ainhum presenting to the accident and emergency department. ( 8110325 )
1993
26
Case report: ainhum (spontaneous dactylolysis) in a 65-year-old American black man. ( 1539609 )
1992
27
Ainhum. ( 2559515 )
1989
28
Ainhum in a 12-year-old girl. ( 3780683 )
1986
29
Ainhum (dactylolysis spontanea). Report of a bilateral case and literature review. ( 3806378 )
1986
30
The surgical pathology of ainhum (dactylolysis spontanea). ( 2423578 )
1986
31
Ainhum--a case report. ( 4078367 )
1985
32
Pseudo-ainhum, angiodysplasia and focal acral hyperkeratosis. ( 4093943 )
1985
33
Ainhum--an unusual presentation involving the second toe in a white male. ( 6701548 )
1984
34
Ainhum. ( 6852001 )
1983
35
Ainhum and angiodysplasia. ( 6115161 )
1981
36
Ainhum (dactylosis spontanea): a literature review and case report. ( 7264168 )
1981
37
Ainhum, trichosporiosis and Z-plasty. ( 7195834 )
1981
38
Ainhum; dactylolysis spontanea. ( 6949057 )
1981
39
Ainhum. ( 7418704 )
1980
40
Classical ainhum in a Zulu albino. ( 603897 )
1977
41
Ainhum. Report of a case. ( 886138 )
1977
42
Ainhum. ( 1279064 )
1976
43
Ainhum: treatment with intralesional steroids. ( 1279067 )
1976
44
Letter: Ainhum. ( 51987 )
1975
45
Editorial: Ainhum. ( 49609 )
1975
46
Letter: Ainhum. ( 49726 )
1975
47
Ainhum (dactylolysis spontanea): report of a case. ( 1056506 )
1975
48
Letter: Ainhum. ( 50529 )
1975
49
An investigation into the prevalence and geographical distribution of Ainhum in the Tsolo district of the Transkei. ( 4432202 )
1974
50
Ainhum: its possible causation by ingestion of plants. ( 4692052 )
1973

Variations for Ainhum

Expression for Ainhum

Search GEO for disease gene expression data for Ainhum.

Pathways for Ainhum

GO Terms for Ainhum

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

# Name GO ID Score Top Affiliating Genes
1 lateral plasma membrane GO:0016328 9.16 GJA1 GJB2
2 gap junction GO:0005921 8.96 GJA1 GJB2
3 connexin complex GO:0005922 8.62 GJA1 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.4 GJA1 GJB2
2 cell communication GO:0007154 9.37 GJA1 GJB2
3 response to retinoic acid GO:0032526 9.32 GJA1 GJB2
4 response to ischemia GO:0002931 9.26 GJA1 GJB2
5 decidualization GO:0046697 9.16 GJA1 GJB2
6 gap junction assembly GO:0016264 8.96 GJA1 GJB2
7 epididymis development GO:1905867 8.62 GJA1 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 8.62 GJA1 GJB2

Sources for Ainhum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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