MCID: ANN001
MIFTS: 35

Anonychia Congenita malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories

Summaries for Anonychia Congenita

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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). Affiliated tissues include bone and skin.

Description from OMIM:48 206800,107000,614149

Aliases & Classifications for Anonychia Congenita

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
anonychia:
Prevalence: <1/1000000


Aliases & Descriptions:

anonychia congenita 9 10 44 21 48
anonychia 44 23 50
hyponychia congenita 9 44
congenital anonychia 50 48
anonychia congenita totalis 50


External Ids:

Disease Ontology9 DOID:0050643
SNOMED-CT via Orphanet60 23610003
ICD10 via Orphanet27 Q84.3

Related Diseases for Anonychia Congenita

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18GeneCards, 19GeneDecks
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Diseases related to Anonychia Congenita via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.4
2anonychia onychodystrophy10.3
3brachydactyly anonychia10.2
4anonychia - microcephaly10.2
5anonychia with flexural pigmentation10.2
6microcephaly10.1
7anonychia total with microcephaly10.1
8teebi kaurah syndrome10.1
9brachydactyly10.1
10anonychia ectrodactyly10.1
11anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
12coffin-siris syndrome10.0
13skin atrophy10.0
14nail-patella syndrome10.0
15alopecia10.0
16bod syndrome10.0
17deafness onychodystrophy osteodystrophy and mental retardation syndrome10.0
18hirschsprung disease type d brachydactyly10.0
19junctional epidermolysis bullosa, non-herlitz type10.0
20leri weill dyschondrosteosis10.0
21nasodigitoacoustic syndrome10.0
22syndactyly cenani lenz type10.0
23yunis varon 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 disability10.0
31distal 22q11.2 microdeletion syndrome10.0
32autosomal dominant nail dysplasia10.0
33epidermolysis bullosa simplex9.9
34larsen syndrome9.9
35junctional epidermolysis bullosa9.9
36multiple epiphyseal dysplasia9.9
37acrocapitofemoral dysplasia9.9
38pachyonychia congenita9.9
39coffin-lowry syndrome9.9
40bloch-sulzberger syndrome9.9
41epidermolysis bullosa dystrophica9.9
42pycnodysostosis9.9
43epidermolysis bullosa9.9
44scleroderma9.9
45fryns syndrome9.9
46acrofrontofacionasal dysostosis syndrome9.9
47arthrogryposis and ectodermal dysplasia9.9
48brachydactyly type a59.9
49coloboma of macula with type b brachydactyly9.9
50corneodermatoosseous syndrome9.9

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



Diseases related to anonychia congenita

Symptoms for Anonychia Congenita

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48OMIM
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Symptoms by clinical synopsis from OMIM:

107000

Clinical features from OMIM:

206800,107000,614149

Drugs & Therapeutics for Anonychia Congenita

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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21GeneTests, 23GTR
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Genetic tests related to Anonychia Congenita:

id Genetic test Affiliating Genes
1 Anonychia Congenita21 RSPO4
2 Anonychia23

Anatomical Context for Anonychia Congenita

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34MalaCards
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MalaCards organs/tissues related to Anonychia Congenita:

34
Bone, Skin

Animal Models for Anonychia Congenita or affiliated genes

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Publications for Anonychia Congenita

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53PubMed
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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

Variations for Anonychia Congenita

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Anonychia Congenita:

65
id Symbol AA change Variation ID SNP ID
1RSPO4p.Gln65ArgVAR_030399
2RSPO4p.Cys95PheVAR_030400
3RSPO4p.Cys107ArgVAR_030401
4RSPO4p.Cys118TyrVAR_030402

Clinvar genetic disease variations for Anonychia Congenita:

1
id Gene Name Type Significance SNP ID Assembly Location
1RSPO4NM_001029871.3(RSPO4): c.194A> G (p.Gln65Arg)single nucleotide variantPathogenicrs74315420GRCh37Chr 20, 948667: 948667
2RSPO4NM_001029871.3(RSPO4): c.319T> C (p.Cys107Arg)single nucleotide variantPathogenicrs74315421GRCh37Chr 20, 947907: 947907
3RSPO4NM_001029871.3(RSPO4): c.353G> A (p.Cys118Tyr)single nucleotide variantPathogenicrs74315422GRCh37Chr 20, 947873: 947873
4RSPO4NM_001029871.3(RSPO4): c.218G> A (p.Cys73Tyr)single nucleotide variantPathogenicrs74315423GRCh37Chr 20, 948643: 948643
5RSPO4RSPO4, 1-BP INS, 92GinsertionPathogenic
6RSPO4NM_001029871.3(RSPO4): c.301C> T (p.Gln101Ter)single nucleotide variantPathogenicrs387907026GRCh37Chr 20, 947925: 947925
7RSPO4NM_001029871.3(RSPO4): c.190C> T (p.Arg64Cys)single nucleotide variantPathogenicrs387907027GRCh37Chr 20, 948671: 948671
8RSPO4NM_001029871.3(RSPO4): c.199G> C (p.Gly67Arg)single nucleotide variantPathogenicrs387907028GRCh37Chr 20, 948662: 948662

Expression for genes affiliated with Anonychia Congenita

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2BioGPS, 16Gene 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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Compounds for genes affiliated with Anonychia Congenita

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GO Terms for genes affiliated with Anonychia Congenita

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Products for genes affiliated with Anonychia Congenita

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Sources for Anonychia Congenita

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet