MCID: ANN001
MIFTS: 36

Anonychia Congenita malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases categories
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Summaries for Anonychia Congenita

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NIH Rare Diseases:42 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

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

Descriptions from OMIM:46 206800,107000,614149

Aliases & Classifications for Anonychia Congenita

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Anonychia Congenita, Aliases & Descriptions:

Name: Anonychia Congenita 8 9 42 20 46
Anonychia 42 22 48
Hyponychia Congenita 8 42
 
Congenital Anonychia 48 46
Anonychia Congenita Totalis 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
anonychia:
Prevalence: <1/1000000


External Ids:

Disease Ontology8 DOID:0050643
ICD10 via Orphanet26 Q84.3

Related Diseases for Anonychia Congenita

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

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1anonychia-onychodystrophy with hypoplasia or absence of distal phalanges10.4
2anonychia onychodystrophy10.4
3brachydactyly anonychia10.3
4anonychia - microcephaly10.3
5anonychia with flexural pigmentation10.3
6brachydactyly10.2
7microcephaly10.2
8anonychia total with microcephaly10.2
9teebi kaurah syndrome10.2
10anonychia ectrodactyly10.1
11anonychia-onychodystrophy with brachydactyly type b and ectrodactyly10.1
12alopecia10.1
13skin atrophy10.1
14coffin-siris syndrome10.1
15nail-patella syndrome10.1
16bod syndrome10.1
17deafness onychodystrophy osteodystrophy and mental retardation syndrome10.1
18hirschsprung disease type d brachydactyly10.1
19junctional epidermolysis bullosa, non-herlitz type10.1
20leri weill dyschondrosteosis10.1
21nasodigitoacoustic syndrome10.1
22syndactyly cenani lenz type10.1
23yunis varon syndrome10.1
24adams-oliver syndrome 110.1
25epidermolysis bullosa dystrophica, ar10.1
26zimmermann-laband syndrome10.1
27ectodermal dysplasia 3, witkop type10.1
28dyskeratosis congenita, autosomal recessive 410.1
29aphalangy - syndactyly - microcephaly10.1
30ulna hypoplasia - intellectual disability10.1
31distal 22q11.2 microdeletion syndrome10.1
32autosomal dominant nail dysplasia10.1
33larsen syndrome9.9
34pachyonychia congenita9.9
35acrocapitofemoral dysplasia9.9
36pycnodysostosis9.9
37incontinentia pigmenti achromians9.9
38junctional epidermolysis bullosa9.9
39coffin-lowry syndrome9.9
40epidermolysis bullosa9.9
41scleroderma9.9
42fryns syndrome9.9
43acrofrontofacionasal dysostosis syndrome9.9
44arthrogryposis and ectodermal dysplasia9.9
45brachydactyly type a59.9
46coloboma of macula with type b brachydactyly9.9
47corneodermatoosseous syndrome9.9
48dahlberg borer newcomer syndrome9.9
49epidermolysis bullosa, lethal acantholytic9.9
50fetal hydantoin syndrome9.9

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



Diseases related to anonychia congenita

Symptoms for Anonychia Congenita

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Symptoms by clinical synopsis from OMIM:

107000

Clinical features from OMIM:

206800,107000,614149

HPO human phenotypes related to Anonychia Congenita:

(show all 8)
id Description Frequency HPO Source Accession
1 tapered distal phalanges of finger rare (5%) HP:0009884
2 autosomal dominant inheritance HP:0000006
3 congenital hip dislocation HP:0001374
4 anonychia HP:0001798
5 nail dysplasia HP:0002164
6 nail dystrophy HP:0008404
7 autosomal recessive inheritance HP:0000007
8 anonychia HP:0001798

Drugs & Therapeutics for Anonychia Congenita

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Drug clinical trials:

Search ClinicalTrials for Anonychia Congenita

Search 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 Congenita20 RSPO4
2 Anonychia22

Anatomical Context for Anonychia Congenita

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MalaCards organs/tissues related to Anonychia Congenita:

32
Bone, Skin

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:

64
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 Name 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

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Expression patterns in normal tissues for genes affiliated with Anonychia Congenita

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Pathways for genes affiliated with Anonychia Congenita

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Compounds for genes affiliated with Anonychia Congenita

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GO Terms for genes affiliated with Anonychia Congenita

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Products for genes affiliated with Anonychia Congenita

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Sources for Anonychia Congenita

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet