NDNC4
MCID: ANN001
MIFTS: 31

Anonychia Congenita (NDNC4) malady

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

Aliases & Classifications for Anonychia Congenita

Aliases & Descriptions for Anonychia Congenita:

Name: Anonychia Congenita 54 12 50 24 13 14
Hyponychia Congenita 12 50 66
Nail Disorder, Nonsyndromic Congenital, 4 54 69
Anonychia Congenita Totalis 56 66
Anonychia 50 29
Nail Disorder, Non-Syndromic Congenital, 4 66
Nonsyndromic Congenital Nail Disorder 4 12
Anonychia/hyponychia Congenita 66
Ndnc4 66

Characteristics:

Orphanet epidemiological data:

56
anonychia congenita totalis
Inheritance: Autosomal recessive;

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

Summaries for Anonychia Congenita

OMIM : 54 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 : 50 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 : 66 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

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

id Related Disease Score Top Affiliating Genes
1 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 12.0
2 isolated congenital anonychia 11.9
3 onychodystrophy-anonychia 11.9
4 anonychia, total, with microcephaly 10.9
5 teebi kaurah syndrome 10.9
6 nail disorder, nonsyndromic congenital, 1 10.8
7 microcephaly 9.9
8 bile duct disease 9.9 ESCO1 RSPO4 ZNF519
9 brown-vialetto-van laere syndrome 1 8.8 CEP76 ESCO1 PTPN2 RSPO4 SEH1L TUBB6

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



Diseases related to Anonychia Congenita

Symptoms & Phenotypes for Anonychia Congenita

Symptoms by clinical synopsis from OMIM:

206800

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:

66
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 GRCh37 Chromosome 20, 948763: 948763
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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