MCID: NLD014
MIFTS: 35

Nail Disorder, Nonsyndromic Congenital, 4

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 4

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 4:

Name: Nail Disorder, Nonsyndromic Congenital, 4 57 73
Anonychia Congenita 57 12 53 25 37 13 15
Hyponychia Congenita 12 25 75
Anonychia 25 29 6
Anonychia/hyponychia Congenita 57 75
Isolated Congenital Anonychia 53 59
Anonychia Congenita Totalis 59 75
Ndnc4 57 75
Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4 53
Nail Disorder, Nonsyndromic, Congenital, Type 4 40
Nail Disorder, Non-Syndromic Congenital, 4 75
Nonsyndromic Congenital Nail Disorder, 4 53
Nonsyndromic Congenital Nail Disorder 4 12
Congenital Absence of Nails 25
Congenital Anonychia 53
Isolated Anonychia 59
Anonychia Totalis 57
Aplastic Nails 25
Absent Nails 25

Characteristics:

Orphanet epidemiological data:

59
isolated congenital anonychia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);
anonychia congenita totalis
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
nail disorder, nonsyndromic congenital, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 206800
Disease Ontology 12 DOID:0050643 DOID:0080082
ICD10 via Orphanet 34 Q84.3
UMLS via Orphanet 74 C0265998
MeSH 44 D009260
KEGG 37 H00683
ICD10 33 Q84.3
SNOMED-CT via HPO 69 258211005 23610003
UMLS 73 C3277900

Summaries for Nail Disorder, Nonsyndromic Congenital, 4

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)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 4, also known as anonychia congenita, is related to temple-baraitser syndrome and anonychia, total, with microcephaly. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4), and among its related pathways/superpathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include bone and skin, and related phenotype is anonychia.

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79143Disease definitionIsolated 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 recessivetrait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern.Visit the Orphanet disease page for more resources.

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.

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 4

Diseases in the Nail Disease family:

Nail Disorder, Nonsyndromic Congenital, 6 Nail Disorder, Nonsyndromic Congenital, 2
Nail Disorder, Nonsyndromic Congenital, 3 Nail Disorder, Nonsyndromic Congenital, 1
Nail Disorder, Nonsyndromic Congenital, 5 Nail Disorder, Nonsyndromic Congenital, 4
Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 8
Nail Disorder, Nonsyndromic Congenital, 9 Nail Disorder, Nonsyndromic Congenital, 10

Diseases related to Nail Disorder, Nonsyndromic Congenital, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 temple-baraitser syndrome 11.6
2 anonychia, total, with microcephaly 11.4
3 teebi kaurah syndrome 11.4
4 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.1
5 ulnar hypoplasia with mental retardation 11.0
6 onychodystrophy-anonychia 11.0
7 ulna hypoplasia-intellectual disability syndrome 11.0
8 preaxial deficiency, postaxial polydactyly, and hypospadias 11.0
9 coloboma of macula with type b brachydactyly 11.0
10 restrictive dermopathy, lethal 11.0
11 nail disorder, nonsyndromic congenital, 6 10.9
12 fontaine progeroid syndrome 10.9
13 zimmermann-laband syndrome 1 10.9
14 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.9
15 rapp-hodgkin syndrome 10.8
16 epidermolysis bullosa, lethal acantholytic 10.8
17 acroosteolysis 10.0
18 microcephaly 10.0
19 nail disease 7.8 CEP76 ESCO1 RSPO4 TUBB6 ZNF519

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 4:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 4

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 4

Symptoms via clinical synopsis from OMIM:

57
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 Nail Disorder, Nonsyndromic Congenital, 4:

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

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 4

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 4

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 4

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 4:

# Genetic test Affiliating Genes
1 Anonychia 29 RSPO4

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 4

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 4:

41
Bone, Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 4

Articles related to Nail Disorder, Nonsyndromic Congenital, 4:

# 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 Nail Disorder, Nonsyndromic Congenital, 4

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 4:

75
# 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 Nail Disorder, Nonsyndromic Congenital, 4:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPO4 NM_001029871.3(RSPO4): c.194A> G (p.Gln65Arg) single nucleotide variant Pathogenic rs74315420 GRCh37 Chromosome 20, 948667: 948667
2 RSPO4 NM_001029871.3(RSPO4): c.194A> G (p.Gln65Arg) single nucleotide variant Pathogenic rs74315420 GRCh38 Chromosome 20, 968024: 968024
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.319T> C (p.Cys107Arg) single nucleotide variant Pathogenic rs74315421 GRCh38 Chromosome 20, 967264: 967264
5 RSPO4 NM_001029871.3(RSPO4): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs74315422 GRCh37 Chromosome 20, 947873: 947873
6 RSPO4 NM_001029871.3(RSPO4): c.353G> A (p.Cys118Tyr) single nucleotide variant Pathogenic rs74315422 GRCh38 Chromosome 20, 967230: 967230
7 RSPO4 NM_001029871.3(RSPO4): c.218G> A (p.Cys73Tyr) single nucleotide variant Pathogenic rs74315423 GRCh37 Chromosome 20, 948643: 948643
8 RSPO4 NM_001029871.3(RSPO4): c.218G> A (p.Cys73Tyr) single nucleotide variant Pathogenic rs74315423 GRCh38 Chromosome 20, 968000: 968000
9 RSPO4 NM_001029871.3(RSPO4): c.98dupG (p.Asn34Glnfs) duplication Pathogenic rs768138495 GRCh38 Chromosome 20, 968120: 968120
10 RSPO4 NM_001029871.3(RSPO4): c.98dupG (p.Asn34Glnfs) duplication Pathogenic rs768138495 GRCh37 Chromosome 20, 948763: 948763
11 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh37 Chromosome 3, 48630971: 48630971
12 COL7A1 NM_000094.3(COL7A1): c.425A> G (p.Lys142Arg) single nucleotide variant Pathogenic rs121912856 GRCh38 Chromosome 3, 48593538: 48593538
13 RSPO4 NM_001029871.3(RSPO4): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs387907026 GRCh37 Chromosome 20, 947925: 947925
14 RSPO4 NM_001029871.3(RSPO4): c.301C> T (p.Gln101Ter) single nucleotide variant Pathogenic rs387907026 GRCh38 Chromosome 20, 967282: 967282
15 RSPO4 NM_001029871.3(RSPO4): c.190C> T (p.Arg64Cys) single nucleotide variant Pathogenic rs387907027 GRCh37 Chromosome 20, 948671: 948671
16 RSPO4 NM_001029871.3(RSPO4): c.190C> T (p.Arg64Cys) single nucleotide variant Pathogenic rs387907027 GRCh38 Chromosome 20, 968028: 968028
17 RSPO4 NM_001029871.3(RSPO4): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387907028 GRCh37 Chromosome 20, 948662: 948662
18 RSPO4 NM_001029871.3(RSPO4): c.199G> C (p.Gly67Arg) single nucleotide variant Pathogenic rs387907028 GRCh38 Chromosome 20, 968019: 968019
19 COL7A1 NM_000094.3(COL7A1): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic rs780261665 GRCh37 Chromosome 3, 48627691: 48627691
20 COL7A1 NM_000094.3(COL7A1): c.2005C> T (p.Arg669Ter) single nucleotide variant Pathogenic rs780261665 GRCh38 Chromosome 3, 48590258: 48590258
21 KRT17 NM_000422.2(KRT17): c.960+5G> A single nucleotide variant Pathogenic rs370554150 GRCh37 Chromosome 17, 39777213: 39777213
22 KRT17 NM_000422.2(KRT17): c.960+5G> A single nucleotide variant Pathogenic rs370554150 GRCh38 Chromosome 17, 41620961: 41620961

Expression for Nail Disorder, Nonsyndromic Congenital, 4

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 4.

Pathways for Nail Disorder, Nonsyndromic Congenital, 4

Pathways related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 KRT17 TUBB6

GO Terms for Nail Disorder, Nonsyndromic Congenital, 4

Biological processes related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 8.96 COL7A1 KRT17
2 sister chromatid cohesion GO:0007062 8.62 ESCO1 SEH1L

Molecular functions related to Nail Disorder, Nonsyndromic Congenital, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 KRT17 TUBB6

Sources for Nail Disorder, Nonsyndromic Congenital, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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