MCID: ANN001
MIFTS: 31

Anonychia Congenita malady

Skin, Fetal categories

Summaries for Anonychia Congenita

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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.

Description from OMIM:47 206800,107000,614149

Aliases & Classifications for Anonychia Congenita

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 22GTR, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

anonychia congenita 8 9 43 20 47
anonychia 43 22 49
hyponychia congenita 8 43
congenital anonychia 49 47
anonychia congenita totalis 49


External Ids:

Disease Ontology8 DOID:0050643
ICD10 via Orphanet26 Q84.3

Related Diseases for Anonychia Congenita

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Anonychia Congenita family:

anonychia total with microcephaly anonychia with flexural pigmentation

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.4
2anonychia onychodystrophy10.3
3brachydactyly anonychia10.3
4anonychia ectrodactyly10.2
5microcephaly10.1
6n syndrome10.1
7micro syndrome10.1
8anonychia total with microcephaly10.1
9teebi kaurah syndrome10.1
10anonychia - microcephaly10.1
11brachydactyly10.1
12anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
13anonychia with flexural pigmentation10.1
14skin atrophy10.0
15coffin-siris syndrome10.0
16nail-patella syndrome10.0
17alopecia10.0
18bod syndrome10.0
19syndactyly cenani lenz type10.0
20yunis varon syndrome10.0
21deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
22junctional epidermolysis bullosa, non-herlitz type10.0
23hirschsprung disease type d brachydactyly10.0
24nasodigitoacoustic syndrome10.0
25adams-oliver syndrome 110.0
26l�ri-weill dyschondrosteosis10.0
27epidermolysis bullosa dystrophica, ar10.0
28zimmermann-laband syndrome10.0
29ectodermal dysplasia 3, witkop type10.0
30dyskeratosis congenita, autosomal recessive 410.0
31aphalangy - syndactyly - microcephaly10.0
32ulna hypoplasia - intellectual deficit10.0
33distal 22q11.2 microdeletion syndrome10.0
34autosomal dominant nail dysplasia10.0
35nail disease9.9CEP76, ESCO1, RSPO4, SEH1L, ZNF519, TUBB6
36epidermolysis bullosa simplex9.9
37larsen syndrome9.9
38junctional epidermolysis bullosa9.9
39multiple epiphyseal dysplasia9.9
40pachyonychia congenita9.9
41acrocapitofemoral dysplasia9.9
42pycnodysostosis9.9
43epidermolysis bullosa dystrophica9.9
44bloch-sulzberger syndrome9.9
45coffin-lowry syndrome9.9
46fryns syndrome9.9
47brachydactyly type a59.9
48acrofrontofacionasal dysostosis syndrome9.9
49coloboma of macula with type b brachydactyly9.9
50preaxial deficiency, postaxial polydactyly and hypospadias9.9

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



Diseases related to anonychia congenita

Clinical Features for Anonychia Congenita

Sources:
47OMIM
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Clinical features from OMIM:

206800,107000,614149

Clinical synopsis from OMIM:

107000

Drugs & Therapeutics for Anonychia Congenita

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Anonychia Congenita

Drug clinical trials:

Search ClinicalTrials for Anonychia Congenita

Search NIH Clinical Center for Anonychia Congenita

Search CenterWatch for Anonychia Congenita

Genetic Tests for Anonychia Congenita

Sources:
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

Animal Models for Anonychia Congenita or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Anonychia Congenita

Sources:
51PubMed
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Articles related to Anonychia Congenita:

idTitleAuthorsYear
1
A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family. (22300369)
2013
2
Anonychia congenita. (23130298)
2012
3
A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family. (18070203)
2008
4
The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects. (17596144)
2007
5
Total anonychia congenita: a rare heterogeneic disorder. (15083698)
2004
6
Anonychia congenita totalis: a case report and review of the literature. (12121551)
2002
7
Total anonychia congenita in a woman with normal intelligence: report of a further case. (10681628)
2000
8
Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome? (8985482)
1996
9
Anonychia congenita. (4702713)
1973

Genetic Variations for Anonychia Congenita

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Anonychia Congenita:

63
id Symbol AA change Variation SNP ID
1RSPO4p.Gln65ArgVAR_030399
2RSPO4p.Cys95PheVAR_030400
3RSPO4p.Cys107ArgVAR_030401
4RSPO4p.Cys118TyrVAR_030402

Expression for genes affiliated with Anonychia Congenita

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

Search GEO for disease gene expression data for Anonychia Congenita.

Pathways for genes affiliated with Anonychia Congenita

Sources:
54Reactome
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Compounds for genes affiliated with Anonychia Congenita

GO Terms for genes affiliated with Anonychia Congenita

Sources:
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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  • Lysates
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Sources for Anonychia Congenita

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet