Aliases & Classifications for Ainhum

MalaCards integrated aliases for Ainhum:

Name: Ainhum 57 12 76 53 44 15 73
Spontaneous Dactylolysis 53
Dactylolysis Spontanea 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
occurs most often among black africans


HPO:

32
ainhum:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 103400
Disease Ontology 12 DOID:11329
ICD10 33 L94.6
ICD9CM 35 136.0
MeSH 44 D000387
NCIt 50 C84544
SNOMED-CT 68 38528001 51404004
MedGen 42 C0001860
SNOMED-CT via HPO 69 263681008 19988008 238879003
UMLS 73 C0001860

Summaries for Ainhum

NIH Rare Diseases : 53 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 vohwinkel syndrome and palmoplantar keratosis. 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, 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 : 76 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:

57
Skeletal Feet:
ainhum (spontaneous amputation) of toe (primarily 5th)


Clinical features from OMIM:

103400

Human phenotypes related to Ainhum:

32
# Description HPO Frequency HPO Source Accession
1 amniotic constriction ring 32 HP:0009775
2 ainhum 32 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:

41
Skin

Publications for Ainhum

Articles related to Ainhum:

(show top 50) (show all 122)
# Title Authors Year
1
Ainhum - A Rare Case Report. ( 27190888 )
2016
2
Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. ( 27512197 )
2016
3
Ainhum or Dactylolysis Spontanea: a Missing Toe. ( 26926903 )
2016
4
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
5
Ainhum leading to fifth-digit amputation. ( 25440870 )
2015
6
Ainhum: A Spot Diagnosis. ( 27011582 )
2015
7
Dactylolysis spontanea (ainhum). ( 26379327 )
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
Ainhum (dactylolysis spontanea): a case with hands and feet involvement. ( 23872549 )
2013
11
Penile pseudo-ainhum associated with lichen sclerosus et atrophicus. ( 24195101 )
2013
12
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. ( 20635335 )
2010
13
Vohwinkel syndrome: treatment of pseudo-ainhum. ( 20465619 )
2010
14
Clouston syndrome associated with severe congenital pseudo-ainhum. ( 17542906 )
2007
15
An unusual cause of ulceration: ainhum (dactylolysis spontanea). ( 17924881 )
2007
16
Destructive deformation of the digits with auto-amputation: a review of pseudo-ainhum. ( 17567298 )
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
A rare association of epidermal nevus syndrome and ainhum-like digital constrictions. ( 12220284 )
2002
20
Ainhum (dactylolysis spontanea): a radiological survey of 6000 patients. ( 12500788 )
2002
21
Images and diagnoses. Ainhum. ( 10786458 )
2000
22
Pseudo-ainhum in discoid lupus erythematosus. ( 9609990 )
1998
23
Surgical correction of pseudo-ainhum in Vohwinkel syndrome. ( 7561409 )
1995
24
Ainhum in supernumery fingers. ( 20953032 )
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
Pseudo-ainhum Associated with Spina Bifida Occulta and Hemivertebra. ( 28128129 )
1989
29
Pseudo-ainhum Associated with Spina-bifida Occulta and Hemivertebra. ( 28134156 )
1988
30
Ainhum in a 12-year-old girl. ( 3780683 )
1986
31
The surgical pathology of ainhum (dactylolysis spontanea). ( 2423578 )
1986
32
Ainhum (dactylolysis spontanea). Report of a bilateral case and literature review. ( 3806378 )
1986
33
Pseudo-ainhum, angiodysplasia and focal acral hyperkeratosis. ( 4093943 )
1985
34
Ainhum--a case report. ( 4078367 )
1985
35
Ainhum--an unusual presentation involving the second toe in a white male. ( 6701548 )
1984
36
Ainhum. ( 6852001 )
1983
37
Ainhum, trichosporiosis and Z-plasty. ( 7195834 )
1981
38
Ainhum and angiodysplasia. ( 6115161 )
1981
39
Ainhum (dactylosis spontanea): a literature review and case report. ( 7264168 )
1981
40
Ainhum; dactylolysis spontanea. ( 6949057 )
1981
41
Spontaneous dactylolysis with pain in a 58-year-old American Black man. ( 7277635 )
1981
42
Ainhum. ( 7418704 )
1980
43
Ainhum. Report of a case. ( 886138 )
1977
44
Classical ainhum in a Zulu albino. ( 603897 )
1977
45
Ainhum. ( 1279064 )
1976
46
Ainhum: treatment with intralesional steroids. ( 1279067 )
1976
47
Letter: Ainhum. ( 51987 )
1975
48
Letter: Ainhum. ( 49726 )
1975
49
Editorial: Ainhum. ( 49609 )
1975
50
Letter: Ainhum. ( 50529 )
1975

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 9.43 GJA1 GJB2
2 response to estradiol GO:0032355 9.4 GJA1 GJB2
3 cell communication GO:0007154 9.37 GJA1 GJB2
4 response to retinoic acid GO:0032526 9.32 GJA1 GJB2
5 response to ischemia GO:0002931 9.26 GJA1 GJB2
6 decidualization GO:0046697 9.16 GJA1 GJB2
7 gap junction assembly GO:0016264 8.96 GJA1 GJB2
8 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
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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