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NDNC4
MCID: NLD014
MIFTS: 40
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Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 4:
Name: Nail Disorder, Nonsyndromic Congenital, 4
57
70
Characteristics:Orphanet epidemiological data:58
isolated congenital anonychia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);
anonychia congenita totalis
Inheritance: Autosomal recessive; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
patients have no abnormalities of hair, teeth, or bone HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Bone diseases
ICD10:
32
33
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis External Ids:
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OMIM® :
57
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) (Updated 20-May-2021)
MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to nail disorder, nonsyndromic congenital, 9 and epidermolysis bullosa. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Wnt signaling pathway. Affiliated tissues include bone, breast and skin, and related phenotypes are anonychia and Decreased shRNA abundance (Z-score < -2) Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has material basis in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. MedlinePlus Genetics : 43 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.Individuals with anonychia congenita do not have any other health problems related to the condition. GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79143 Definition Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. KEGG : 36 Nonsyndromic anonychia is a condition in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified. UniProtKB/Swiss-Prot : 72 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. |
Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 4:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:206800 (Updated 20-May-2021)GenomeRNAi Phenotypes related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:26 (show all 12)
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Cochrane evidence based reviews: anonychia congenita |
MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 4:40
Bone,
Breast,
Skin
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Articles related to Nail Disorder, Nonsyndromic Congenital, 4:(show all 16)
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Genes related to Nail Disorder, Nonsyndromic Congenital, 4 (4 elite genes):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 4:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 4:72
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Search
GEO
for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 4.
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Biological processes related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:
Molecular functions related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:
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