MCID: ANN001
MIFTS: 29

Anonychia Congenita malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Anonychia Congenita

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Aliases & Descriptions for Anonychia Congenita:

Name: Anonychia Congenita 49 10 11 45 22 12
Hyponychia Congenita 10 45 67
Anonychia 45 24
Nail Disorder, Non-Syndromic Congenital, 4 67
Nail Disorder, Nonsyndromic Congenital, 4 65
 
Nonsyndromic Congenital Nail Disorder 4 10
Anonychia/hyponychia Congenita 67
Anonychia Congenita Totalis 67
Ndnc4 67

Characteristics:

HPO:

61
anonychia congenita:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 206800
Disease Ontology10 DOID:0050643, DOID:0080082
MeSH36 D009260
ICD1027 Q84.3
UMLS65 C3277900

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 total with microcephaly, and has symptoms including 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:

idRelated DiseaseScoreTop Affiliating Genes
1anonychia congenita totalis12.2
2anonychia total with microcephaly11.0
3teebi kaurah syndrome11.0
4erythrasma10.1ESCO1, RSPO4
5microcephaly10.0
6cerebrocostomandibular syndrome7.0CEP76, ESCO1, PTPN2, RSPO4, SEH1L, TUBB6

Graphical network of 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 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

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
1cytokine-mediated signaling pathwayGO:00192219.2PTPN2, 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