MCID: ANN001
MIFTS: 41

Anonychia Congenita malady

Skin diseases, Fetal diseases categories

Summaries for Anonychia Congenita

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Anonychia congenita is an extremely rare nail disorder characterized by the complete absence (anonychia) or abnormally developed  fingernails and toenails. affected individuals usually do not have hair, teeth, or bone abnormalities. signs and symptoms are variable, even among affected members of the same family. less than 20 individuals with anonychia congenita have been identified. this condition is thought to be caused by mutations in the rspo4 gene and inherited in an autosomal recessive fashion. last updated: 9/27/2012

MalaCards: Anonychia Congenita, also known as anonychia, is related to anonychia-onychodystrophy with hypoplasia or absence of distal phalanges and anonychia onychodystrophy. An important gene associated with Anonychia Congenita is RSPO4 (R-spondin 4), and among its related pathways are Recruitment of mitotic centrosome proteins and complexes and M Phase. Affiliated tissues include bone and skin.

Description from OMIM:46 206800,107000,614149

Aliases & Classifications for Anonychia Congenita

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Skin diseases


Aliases & Descriptions:

anonychia congenita 8 9 42 20 46
anonychia 42 22 48
hyponychia congenita 8 42
congenital anonychia 48 46
anonychia congenita totalis 48


External Ids:

Disease Ontology8 DOID:0050643
SNOMED-CT via Orphanet57 23610003
ICD10 via Orphanet26 Q84.3

Related Diseases for Anonychia Congenita

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17GeneCards, 18GeneDecks
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Diseases related to Anonychia Congenita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 82)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.3
2anonychia onychodystrophy10.3
3anonychia - microcephaly10.2
4anonychia with flexural pigmentation10.1
5microcephaly10.1
6anonychia total with microcephaly10.1
7teebi kaurah syndrome10.1
8brachydactyly10.1
9anonychia ectrodactyly10.1
10anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
11brachydactyly anonychia10.1
12skin atrophy10.0
13coffin-siris syndrome10.0
14nail-patella syndrome10.0
15alopecia10.0
16bod syndrome10.0
17syndactyly cenani lenz type10.0
18yunis varon syndrome10.0
19leri weill dyschondrosteosis10.0
20deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
21junctional epidermolysis bullosa, non-herlitz type10.0
22hirschsprung disease type d brachydactyly10.0
23nasodigitoacoustic syndrome10.0
24adams-oliver syndrome 110.0
25epidermolysis bullosa dystrophica, ar10.0
26zimmermann-laband syndrome10.0
27ectodermal dysplasia 3, witkop type10.0
28dyskeratosis congenita, autosomal recessive 410.0
29aphalangy - syndactyly - microcephaly10.0
30ulna hypoplasia - intellectual deficit10.0
31distal 22q11.2 microdeletion syndrome10.0
32autosomal dominant nail dysplasia10.0
33nail disease9.9CEP76, ESCO1, RSPO4, SEH1L, ZNF519, TUBB6
34epidermolysis bullosa simplex9.8
35larsen syndrome9.8
36junctional epidermolysis bullosa9.8
37multiple epiphyseal dysplasia9.8
38pachyonychia congenita9.8
39acrocapitofemoral dysplasia9.8
40pycnodysostosis9.8
41epidermolysis bullosa dystrophica9.8
42bloch-sulzberger syndrome9.8
43coffin-lowry syndrome9.8
44epidermolysis bullosa9.8
45scleroderma9.8
46fryns syndrome9.8
47brachydactyly type a59.8
48acrofrontofacionasal dysostosis syndrome9.8
49coloboma of macula with type b brachydactyly9.8
50preaxial deficiency, postaxial polydactyly and hypospadias9.8

Graphical network of the top 20 diseases related to Anonychia Congenita:



Diseases related to anonychia congenita

Clinical Features for Anonychia Congenita

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Sources:
46OMIM
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Clinical features from OMIM:

206800,107000,614149

Clinical synopsis from OMIM:

107000

Drugs & Therapeutics for Anonychia Congenita

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Anonychia Congenita

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20GeneTests, 22GTR
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Genetic tests related to Anonychia Congenita:

id Genetic test Affiliating Genes
1 Anonychia Congenita20 RSPO4
2 Anonychia22

Anatomical Context for Anonychia Congenita

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32MalaCards
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MalaCards organs/tissues related to Anonychia Congenita:

32
Bone, Skin

Animal Models for Anonychia Congenita or affiliated genes

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Publications for Anonychia Congenita

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50PubMed
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Articles related to Anonychia Congenita:

idTitleAuthorsYear
1
Anonychia congenita. (23130298)
2012
2
Total anonychia congenita: a rare heterogeneic disorder. (15083698)
2004
3
Anonychia congenita totalis: a case report and review of the literature. (12121551)
2002
4
Total anonychia congenita in a woman with normal intelligence: report of a further case. (10681628)
2000
5
Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? (8985482)
1996
6
Anonychia congenita. (4702713)
1973

Genetic Variations for Anonychia Congenita

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Anonychia Congenita:

62
id Symbol AA change Variation ID SNP ID
1RSPO4p.Gln65ArgVAR_030399
2RSPO4p.Cys95PheVAR_030400
3RSPO4p.Cys107ArgVAR_030401
4RSPO4p.Cys118TyrVAR_030402

Expression for genes affiliated with Anonychia Congenita

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Anonychia Congenita

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Pathways for genes affiliated with Anonychia Congenita

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53Reactome
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Compounds for genes affiliated with Anonychia Congenita

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GO Terms for genes affiliated with Anonychia Congenita

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16Gene Ontology
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Biological processes related to Anonychia Congenita according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic cell cycleGO:0002788.9CEP76, ESCO1, SEH1L

Products for genes affiliated with Anonychia Congenita

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  • Antibodies
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Sources for Anonychia Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet