MCID: ANN001
MIFTS: 32

Anonychia Congenita malady

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

Aliases & Classifications for Anonychia Congenita

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Aliases & Descriptions for Anonychia Congenita:

Name: Anonychia Congenita 52 11 48 24 12 13
Hyponychia Congenita 11 48 70
Nail Disorder, Nonsyndromic Congenital, 4 52 68
Anonychia Congenita Totalis 54 70
Anonychia 48 27
 
Nail Disorder, Non-Syndromic Congenital, 4 70
Nonsyndromic Congenital Nail Disorder 4 11
Anonychia/hyponychia Congenita 70
Ndnc4 70

Characteristics:

Orphanet epidemiological data:

54
anonychia congenita totalis:
Inheritance: Autosomal recessive

HPO:

64
anonychia congenita:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 206800
Disease Ontology11 DOID:0050643, DOID:0080082
Orphanet54 ORPHA94150
ICD10 via Orphanet31 Q84.3
MeSH39 D009260
ICD1030 Q84.3

Summaries for Anonychia Congenita

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OMIM:52 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-onychodystrophy with hypoplasia or absence of distal phalanges 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:48 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:70 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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Graphical network of diseases related to Anonychia Congenita:



Diseases related to anonychia congenita

Symptoms & Phenotypes for Anonychia Congenita

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Symptoms by clinical synopsis from OMIM:

206800

Clinical features from OMIM:

206800

Human phenotypes related to Anonychia Congenita:

 64
id Description HPO Frequency HPO Source Accession
1 anonychia64 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 Anonychia27
2 Anonychia Congenita24 RSPO4

Anatomical Context for Anonychia Congenita

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MalaCards organs/tissues related to Anonychia Congenita:

36
Bone, Skin

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:

70
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)SNVPathogenicrs74315420GRCh37Chr 20, 948667: 948667
2RSPO4NM_001029871.3(RSPO4): c.319T> C (p.Cys107Arg)SNVPathogenicrs74315421GRCh37Chr 20, 947907: 947907
3RSPO4NM_001029871.3(RSPO4): c.353G> A (p.Cys118Tyr)SNVPathogenicrs74315422GRCh37Chr 20, 947873: 947873
4RSPO4NM_001029871.3(RSPO4): c.218G> A (p.Cys73Tyr)SNVPathogenicrs74315423GRCh37Chr 20, 948643: 948643
5RSPO4NM_001029871.3(RSPO4): c.98dupG (p.Asn34Glnfs)duplicationPathogenicrs768138495GRCh38Chr 20, 968120: 968120
6RSPO4NM_001029871.3(RSPO4): c.301C> T (p.Gln101Ter)SNVPathogenicrs387907026GRCh37Chr 20, 947925: 947925
7RSPO4NM_001029871.3(RSPO4): c.190C> T (p.Arg64Cys)SNVPathogenicrs387907027GRCh37Chr 20, 948671: 948671
8RSPO4NM_001029871.3(RSPO4): c.199G> C (p.Gly67Arg)SNVPathogenicrs387907028GRCh37Chr 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
1sister chromatid cohesionGO:00070629.2ESCO1, SEH1L

Sources for Anonychia Congenita

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet