MCID: ANN001
MIFTS: 35

Anonychia Congenita malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Anonychia Congenita

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Aliases & Descriptions for Anonychia Congenita:

Name: Anonychia Congenita 49 10 11 45 22
Hyponychia Congenita 10 45 67
Anonychia 45 24
Nail Disorder, Non-Syndromic Congenital, 4 67
 
Anonychia/hyponychia Congenita 67
Anonychia Congenita Totalis 67
Ndnc4 67


Classifications:



External Ids:

OMIM49 206800
Disease Ontology10 DOID:0050643
ICD1027 Q84.3
MeSH36 D009260

Summaries for Anonychia Congenita

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OMIM:49 Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic... (206800) more...

MalaCards based summary: Anonychia Congenita, also known as hyponychia congenita, is related to anonychia congenita totalis and anonychia onychodystrophy, and has symptoms including autosomal recessive inheritanceand anonychia. An important gene associated with Anonychia Congenita is RSPO4 (R-Spondin 4). Affiliated tissues include bone.

NIH Rare Diseases:45 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

UniProtKB/Swiss-Prot:67 Nail disorder, non-syndromic congenital, 4: A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.

Related Diseases for Anonychia Congenita

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia congenita totalis10.5
2anonychia onychodystrophy10.3
3brachydactyly anonychia10.3
4anonychia - microcephaly10.3
5anonychia ectrodactyly10.3
6anonychia with flexural pigmentation10.3
7isolated congenital anonychia10.3
8nail-patella syndrome10.2
9brachydactyly10.2
10anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
11anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.2
12bod syndrome10.2
13epidermolysis bullosa, junctional, non-herlitz type10.2
14epidermolysis bullosa, lethal acantholytic10.2
15yunis-varon syndrome10.2
16coffin-siris syndrome10.2
17brachydactyly, type b110.2
18leri-weill dyschondrosteosis10.2
19ectodermal dysplasia 3, witkop type10.2
20dyskeratosis congenita10.2
21adams-oliver syndrome10.2
22hirschsprung disease type d brachydactyly10.2
23zimmermann-laband syndrome10.2
24deafness-onychodystrophy syndrome10.2
25microcephaly10.2
26anonychia total with microcephaly10.2
27teebi kaurah syndrome10.2
28pycnodysostosis10.1
29visceral myopathy10.1
30acrocapitofemoral dysplasia10.1
31larsen syndrome10.1
32brachydactyly, type b210.1
33laryngoonychocutaneous syndrome10.1
34coffin-lowry syndrome10.1
35incontinentia pigmenti10.1
36fuhrmann syndrome10.1
37door syndrome10.1
38alopecia10.1
39pachyonychia congenita10.1
40skin atrophy10.1
41brachydactyly type a510.1
42dahlberg borer newcomer syndrome10.1
43fetal hydantoin syndrome10.1
44fibrochondrogenesis10.1
45hersh podruch weisskopk syndrome10.1
46melhem fahl syndrome10.1
47nasodigitoacoustic syndrome10.1
48orofaciodigital syndrome 1010.1
49progeroid syndrome petty type10.1
50severe generalized recessive dystrophic epidermolysis bullosa10.1

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



Diseases related to anonychia congenita

Symptoms for Anonychia Congenita

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Symptoms by clinical synopsis from OMIM:

206800

Clinical features from OMIM:

206800

HPO human phenotypes related to Anonychia Congenita:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 anonychia HP:0001798

Drugs & Therapeutics for Anonychia Congenita

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anonychia Congenita

Genetic Tests for Anonychia Congenita

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Genetic tests related to Anonychia Congenita:

id Genetic test Affiliating Genes
1 Anonychia Congenita22 RSPO4
2 Anonychia24

Anatomical Context for Anonychia Congenita

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MalaCards organs/tissues related to Anonychia Congenita:

33
Bone

Animal Models for Anonychia Congenita or affiliated genes

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Publications for Anonychia Congenita

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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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UniProtKB/Swiss-Prot genetic disease variations for Anonychia Congenita:

67
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:

5
id Gene Variation 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
5RSPO4NM_001029871.3(RSPO4): c.98dupG (p.Asn34Glnfs)duplicationPathogenicrs768138495GRCh38Chr 20, 968120: 968120
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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Search GEO for disease gene expression data for Anonychia Congenita.

Pathways for genes affiliated with Anonychia Congenita

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GO Terms for genes affiliated with Anonychia Congenita

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Biological processes related to Anonychia Congenita according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitotic cell cycleGO:00002788.7CEP76, ESCO1, SEH1L

Sources for Anonychia Congenita

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet