MCID: ANN001
MIFTS: 32

Anonychia Congenita

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

Aliases & Classifications for Anonychia Congenita

MalaCards integrated aliases for Anonychia Congenita:

Name: Anonychia Congenita 54 12 50 24 25 13 14
Hyponychia Congenita 12 50 25 71
Anonychia 50 25 29
Anonychia Congenita Totalis 56 71
Nail Disorder, Non-Syndromic Congenital, 4 71
Nail Disorder, Nonsyndromic Congenital, 4 69
Nonsyndromic Congenital Nail Disorder 4 12
Anonychia/hyponychia Congenita 71
Congenital Absence of Nails 25
Aplastic Nails 25
Absent Nails 25
Ndnc4 71

Characteristics:

Orphanet epidemiological data:

56
anonychia congenita totalis
Inheritance: Autosomal recessive;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
patients have no abnormalities of hair, teeth, or bone


HPO:

32
anonychia congenita:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 206800
Disease Ontology 12 DOID:0050643 DOID:0080082
Orphanet 56 ORPHA94150
ICD10 via Orphanet 34 Q84.3
MeSH 42 D009260
ICD10 33 Q84.3
SNOMED-CT via HPO 65 258211005 23610003

Summaries for Anonychia Congenita

OMIM : 54
Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (206800)

MalaCards based summary : Anonychia Congenita, also known as hyponychia congenita, is related to temple-baraitser syndrome and anonychia-onychodystrophy with hypoplasia or absence of distal phalanges, and has symptoms including anonychia An important gene associated with Anonychia Congenita is RSPO4 (R-Spondin 4). Affiliated tissues include bone and skin.

Genetics Home Reference : 25 Anonychia congenita is a condition that affects the fingernails and toenails. Individuals with this condition are typically missing all of their fingernails and toenails (anonychia). This absence of nails is noticeable from birth (congenital). In some cases, only part of the nail is missing (hyponychia) or not all fingers and toes are affected. All of the other tissues at the tips of the fingers and toes, including structures that usually support the nail and its growth (such as the nail bed), are normal.

UniProtKB/Swiss-Prot : 71 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

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



Diseases related to Anonychia Congenita

Symptoms & Phenotypes for Anonychia Congenita

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
complete absence of all fingernails (anonychia), congenital
complete absence of all toenails


Clinical features from OMIM:

206800

Human phenotypes related to Anonychia Congenita:

32
id Description HPO Frequency HPO Source Accession
1 anonychia 32 HP:0001798

Drugs & Therapeutics for Anonychia Congenita

Search Clinical Trials , NIH Clinical Center for Anonychia Congenita

Genetic Tests for Anonychia Congenita

Genetic tests related to Anonychia Congenita:

id Genetic test Affiliating Genes
1 Anonychia 29
2 Anonychia Congenita 24 RSPO4

Anatomical Context for Anonychia Congenita

MalaCards organs/tissues related to Anonychia Congenita:

39
Bone, Skin

Publications for Anonychia Congenita

Articles related to Anonychia Congenita:

id Title Authors Year
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

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

71
id Symbol AA change Variation ID SNP ID
1 RSPO4 p.Gln65Arg VAR_030399 rs74315420
2 RSPO4 p.Cys95Phe VAR_030400 rs780506366
3 RSPO4 p.Cys107Arg VAR_030401 rs74315421
4 RSPO4 p.Cys118Tyr VAR_030402 rs74315422

ClinVar genetic disease variations for Anonychia Congenita:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RSPO4 NM_001029871.3(RSPO4): c.98dupG (p.Asn34Glnfs) duplication Pathogenic rs768138495 GRCh38 Chromosome 20, 968120: 968120
2 RSPO4 NM_001029871.3(RSPO4): c.194A> G (p.Gln65Arg) single nucleotide variant Pathogenic rs74315420 GRCh37 Chromosome 20, 948667: 948667
3 RSPO4 NM_001029871.3(RSPO4): c.319T> C (p.Cys107Arg) single nucleotide variant Pathogenic rs74315421 GRCh37 Chromosome 20, 947907: 947907
4 RSPO4 NM_001029871.3(RSPO4): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs74315422 GRCh37 Chromosome 20, 947873: 947873
5 RSPO4 NM_001029871.3(RSPO4): c.218G> A (p.Cys73Tyr) single nucleotide variant Pathogenic rs74315423 GRCh37 Chromosome 20, 948643: 948643
6 RSPO4 NM_001029871.3(RSPO4): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs387907026 GRCh37 Chromosome 20, 947925: 947925
7 RSPO4 NM_001029871.3(RSPO4): c.190C> T (p.Arg64Cys) single nucleotide variant Pathogenic rs387907027 GRCh37 Chromosome 20, 948671: 948671
8 RSPO4 NM_001029871.3(RSPO4): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387907028 GRCh37 Chromosome 20, 948662: 948662

Expression for Anonychia Congenita

Search GEO for disease gene expression data for Anonychia Congenita.

Pathways for Anonychia Congenita

GO Terms for Anonychia Congenita

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

id Name GO ID Score Top Affiliating Genes
1 sister chromatid cohesion GO:0007062 8.62 ESCO1 SEH1L

Sources for Anonychia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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