MCID: ANN001
MIFTS: 28

Anonychia Congenita malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Anonychia Congenita

About this section

Anonychia Congenita, Aliases & Descriptions:

Name: Anonychia Congenita 45 9 10 41 20
Hyponychia Congenita 9 41
Anonychia 41 22
 
Nail Disorder, Nonsyndromic Congenital, 4 45
Congenital Anonychia 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 206800
Disease Ontology9 DOID:0050643
ICD1025 Q84.3

Summaries for Anonychia Congenita

About this section


OMIM:45 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 onychodystrophy, and has symptoms including autosomal recessive inheritanceand anonychia. An important gene associated with Anonychia Congenita is RSPO4 (R-spondin 4). Affiliated tissues include bone.

NIH Rare Diseases:41 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

Related Diseases for Anonychia Congenita

About this section

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia congenita totalis10.4
2anonychia onychodystrophy10.3
3brachydactyly anonychia10.3
4anonychia - microcephaly10.3
5anonychia ectrodactyly10.2
6anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.2
7anonychia with flexural pigmentation10.2
8isolated congenital anonychia10.2
9nail-patella syndrome10.2
10brachydactyly10.2
11anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.2
12bod syndrome10.2
13microcephaly10.1
14anonychia total with microcephaly10.1
15teebi kaurah syndrome10.1
16epidermolysis bullosa, junctional, non-herlitz type10.1
17zimmermann-laband syndrome10.1
18yunis-varon syndrome10.1
19coffin-siris syndrome10.1
20brachydactyly, type b110.1
21cenani-lenz syndactyly syndrome10.1
22leri-weill dyschondrosteosis10.1
23ectodermal dysplasia 3, witkop type10.1
24dyskeratosis congenita10.1
25adams-oliver syndrome10.1
26deafness onychodystrophy osteodystrophy and mental retardation syndrome10.1
27hirschsprung disease type d brachydactyly10.1
28nasodigitoacoustic syndrome10.1
29severe generalized recessive dystrophic epidermolysis bullosa10.1
30aphalangy - syndactyly - microcephaly10.1
31ulna hypoplasia - intellectual disability10.1
32distal 22q11.2 microdeletion syndrome10.1
33pycnodysostosis10.1
34visceral myopathy10.1
35acrocapitofemoral dysplasia10.1
36larsen syndrome10.1
37epidermolysis bullosa, lethal acantholytic10.1
38brachydactyly, type b210.1
39laryngoonychocutaneous syndrome10.1
40coffin-lowry syndrome10.1
41fibrochondrogenesis10.1
42fuhrmann syndrome10.1
43door syndrome10.1
44incontinentia pigmenti, type ii10.1
45alopecia10.1
46skin atrophy10.1
47pachyonychia congenita10.1
48acrofrontofacionasal dysostosis10.1
49fryns syndrome10.1
50arthrogryposis and ectodermal dysplasia10.1

Graphical network of the top 20 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 autosomal recessive inheritance HP:0000007
2 anonychia HP:0001798

Drugs & Therapeutics for Anonychia Congenita

About this section

Drug clinical trials:

Search ClinicalTrials for Anonychia Congenita

Search 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 Anonychia Congenita20 RSPO4
2 Anonychia22

Anatomical Context for Anonychia Congenita

About this section

MalaCards organs/tissues related to Anonychia Congenita:

31
Bone

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:

62
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:

6
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
5RSPO4RSPO4, 1-BP INS, 92GinsertionPathogenic
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

Compounds for genes affiliated with Anonychia Congenita

About this section

GO Terms for genes affiliated with Anonychia Congenita

About this section

Products for genes affiliated with Anonychia Congenita

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Anonychia Congenita

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet