MCID: ANN001
MIFTS: 33

Anonychia Congenita malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Anonychia Congenita

About this section

Aliases & Descriptions for Anonychia Congenita:

Name: Anonychia Congenita 50 11 46 23 13 12
Hyponychia Congenita 11 46 68
Anonychia Congenita Totalis 52 68
Anonychia 46 25
Nail Disorder, Non-Syndromic Congenital, 4 68
 
Nail Disorder, Nonsyndromic Congenital, 4 50
Nonsyndromic Congenital Nail Disorder 4 11
Anonychia/hyponychia Congenita 68
Ndnc4 68

Characteristics:

Orphanet epidemiological data:

52
anonychia congenita totalis:
Inheritance: Autosomal recessive

HPO:

62
anonychia congenita:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 206800
Disease Ontology11 DOID:0050643, DOID:0080082
Orphanet52 ORPHA94150
ICD10 via Orphanet29 Q84.3
MeSH37 D009260
ICD1028 Q84.3

Summaries for Anonychia Congenita

About this section
OMIM:50 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 onychodystrophy-anonychia and isolated congenital anonychia, and has symptoms including anonychia An important gene associated with Anonychia Congenita is RSPO4 (R-Spondin 4). Affiliated tissues include bone and skin.

NIH Rare Diseases:46 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:68 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1onychodystrophy-anonychia12.0
2isolated congenital anonychia12.0
3anonychia, total, with microcephaly11.1
4teebi kaurah syndrome11.1
5microcephaly10.0
6nail disorder, nonsyndromic congenital, 110.0
7myxosarcoma9.6ESCO1, RSPO4, ZNF519
8brown-vialetto-van laere syndrome 16.9CEP76, ESCO1, PTPN2, RSPO4, SEH1L, TUBB6

Graphical network of diseases related to Anonychia Congenita:



Diseases related to anonychia congenita

Symptoms for Anonychia Congenita

About this section

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 anonychia HP:0001798

Drugs & Therapeutics for Anonychia Congenita

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Anonychia Congenita

Genetic Tests for Anonychia Congenita

About this section

Genetic tests related to Anonychia Congenita:

id Genetic test Affiliating Genes
1 Anonychia25
2 Anonychia Congenita23 RSPO4

Anatomical Context for Anonychia Congenita

About this section

MalaCards organs/tissues related to Anonychia Congenita:

34
Bone, Skin

Animal Models for Anonychia Congenita or affiliated genes

About this section

Publications for Anonychia Congenita

About this section

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

About this section

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

68
id Symbol AA change Variation ID SNP ID
1RSPO4p.Gln65ArgVAR_030399rs74315420
2RSPO4p.Cys95PheVAR_030400rs780506366
3RSPO4p.Cys107ArgVAR_030401rs74315421
4RSPO4p.Cys118TyrVAR_030402rs74315422

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

About this section
Search GEO for disease gene expression data for Anonychia Congenita.

Pathways for genes affiliated with Anonychia Congenita

About this section

GO Terms for genes affiliated with Anonychia Congenita

About this section

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

idNameGO IDScoreTop Affiliating Genes
1sister chromatid cohesionGO:00070629.2ESCO1, SEH1L

Sources for Anonychia Congenita

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet