NDNC4
MCID: NLD014
MIFTS: 36

Nail Disorder, Nonsyndromic Congenital, 4 (NDNC4)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 4

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

Name: Nail Disorder, Nonsyndromic Congenital, 4 58 74
Anonychia Congenita 58 12 54 26 38 13 45 15
Hyponychia Congenita 12 26 76
Anonychia 26 30 6
Anonychia/hyponychia Congenita 58 76
Isolated Congenital Anonychia 54 60
Anonychia Congenita Totalis 60 76
Ndnc4 58 76
Autosomal Recessive Nonsyndromic Congenital Nail Disorder-4 54
Nail Disorder, Nonsyndromic, Congenital, Type 4 41
Nail Disorder, Non-Syndromic Congenital, 4 76
Nonsyndromic Congenital Nail Disorder, 4 54
Nonsyndromic Congenital Nail Disorder 4 12
Congenital Absence of Nails 26
Congenital Anonychia 54
Isolated Anonychia 60
Anonychia Totalis 58
Aplastic Nails 26
Absent Nails 26

Characteristics:

Orphanet epidemiological data:

60
isolated congenital anonychia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);
anonychia congenita totalis
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
nail disorder, nonsyndromic congenital, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050643 DOID:0080082
OMIM 58 206800
KEGG 38 H00683
ICD10 34 Q84.3
ICD10 via Orphanet 35 Q84.3
UMLS via Orphanet 75 C0265998
SNOMED-CT via HPO 70 23610003 258211005
UMLS 74 C3277900

Summaries for Nail Disorder, Nonsyndromic Congenital, 4

OMIM : 58 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 epidermolysis bullosa and anonychia-onychodystrophy with brachydactyly type b and ectrodactyly. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 4 is RSPO4 (R-Spondin 4). Affiliated tissues include bone and skin, and related phenotype is anonychia.

Disease Ontology : 12 A nail disease that is characterized by absence of fingernails and toenails, has material basis in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 30.0 COL17A1 COL7A1
2 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly 12.2
3 brachydactyly anonychia 12.2
4 anonychia-ectrodactyly 12.1
5 anonychia with flexural pigmentation 12.1
6 temple-baraitser syndrome 11.7
7 nail disorder, nonsyndromic congenital, 9 11.7
8 anonychia, total, with microcephaly 11.6
9 teebi kaurah syndrome 11.6
10 sequeiros sack syndrome 11.4
11 anonychia-onychodystrophy with hypoplasia or absence of distal phalanges 11.3
12 ulnar hypoplasia with mental retardation 11.2
13 onychodystrophy-anonychia 11.2
14 ulna hypoplasia-intellectual disability syndrome 11.2
15 preaxial deficiency, postaxial polydactyly, and hypospadias 11.2
16 coloboma of macula with type b brachydactyly 11.1
17 restrictive dermopathy, lethal 11.1
18 nail disorder, nonsyndromic congenital, 6 11.1
19 fontaine progeroid syndrome 11.1
20 hypertrophy of the breast, juvenile 11.1
21 zimmermann-laband syndrome 1 11.1
22 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.1
23 santos syndrome 11.0
24 deafness, congenital, with onychodystrophy, autosomal dominant 10.9
25 rapp-hodgkin syndrome 10.9
26 epidermolysis bullosa, lethal acantholytic 10.9
27 zimmermann-laband syndrome 2 10.9
28 autosomal dominant deafness-onychodystrophy syndrome 10.9
29 dominant dystrophic epidermolysis bullosa 10.9
30 split-hand/foot malformation 1 10.3
31 isolated split hand-split foot malformation 10.3
32 acroosteolysis 10.1
33 neurotic excoriation 10.1 COL17A1 COL7A1
34 microcephaly 10.1
35 severe cutaneous adverse reaction 10.1
36 alopecia 10.1
37 skin atrophy 10.1
38 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.1
39 vesiculobullous skin disease 10.1 COL17A1 COL7A1
40 uncombable hair syndrome 1 10.0
41 brachydactyly 10.0
42 epidermolysis bullosa acquisita 10.0 COL17A1 COL7A1
43 junctional epidermolysis bullosa 10.0
44 porokeratosis 10.0
45 lichen planus 10.0
46 linear scleroderma 10.0
47 adenohypophysitis 10.0
48 skin disease 9.9 COL17A1 COL7A1 KRT17
49 nail disease 9.9 CEP76 RSPO4 ZNF519
50 epidermolysis bullosa, junctional, non-herlitz type 9.9 COL17A1 COL7A1

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

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 4:

33
# Description HPO Frequency HPO Source Accession
1 anonychia 33 HP:0001798

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
complete absence of all fingernails (anonychia), congenital
complete absence of all toenails

Clinical features from OMIM:

206800

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 4

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

Cochrane evidence based reviews: anonychia congenita

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 4

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

# Genetic test Affiliating Genes
1 Anonychia 30

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 4

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

42
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:

76
# 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 24)
# 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
23 COL17A1 NM_000494.4(COL17A1): c.4145_4148del (p.Glu1382Alafs) deletion Pathogenic GRCh37 Chromosome 10, 105793710: 105793714
24 COL17A1 NM_000494.4(COL17A1): c.4145_4148del (p.Glu1382Alafs) deletion Pathogenic GRCh38 Chromosome 10, 104033953: 104033956

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

GO Terms for Nail Disorder, Nonsyndromic Congenital, 4

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

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 8.96 COL17A1 COL7A1
2 collagen trimer GO:0005581 8.62 COL17A1 COL7A1

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 8.8 COL17A1 COL7A1 KRT17

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL17A1 COL7A1

Sources for Nail Disorder, Nonsyndromic Congenital, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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