NDNC1
MCID: NLD009
MIFTS: 55

Nail Disorder, Nonsyndromic Congenital, 1 (NDNC1)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 1

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 1:

Name: Nail Disorder, Nonsyndromic Congenital, 1 57 29 6
Nail Disorder, Nonsyndromic Congenital, 10 43 29 70
Twenty-Nail Dystrophy 57 12 20
Claw-Shaped Nails 57 43 72
Onycholysis 44 70 32
Nonsyndromic Congenital Nail Disorder 10 12 43
Onychauxis, Hyponychia, and Onycholysis 57 43
Nonsyndromic Congenital Nail Disorder 1 12 15
Idiopathic Trachyonychia 20 58
Twenty Nail Dystrophy 20 70
Ndnc10 43 72
Ndnc1 57 72
Nail Disorder, Nonsyndromic Congenital, 10, Formerly; Ndnc10, Formerly 57
Nail Disorder, Nonsyndromic Congenital, 10, Formerly 57
Nail Disorder, Nonsyndromic Congenital, Type 10 39
Nail Disorder, Non-Syndromic Congenital, 10 72
Nail Disorder, Non-Syndromic Congenital, 1 72
Nail Disorder, Nonsyndromic Congenital 1 20
Onychauxis Hyponychia and Onycholysis 72
Onychodystrophy Totalis, Isolated 57
Autosomal Dominant Nail Dysplasia 20
Onychodystrophy Totalis 20
Ndnc10, Formerly 57
Sandpaper Nails 20
Trachyonychia 20

Characteristics:

Orphanet epidemiological data:

58
idiopathic trachyonychia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
present at birth or onset in early childhood
sparing of some nails (in some patients)
no abnormalities of skin, hair, teeth, or bones


HPO:

31
nail disorder, nonsyndromic congenital, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080079
OMIM® 57 161050
OMIM Phenotypic Series 57 PS161050
MeSH 44 D054039
ICD10 32 L60.1
ICD10 via Orphanet 33 L60.3
UMLS via Orphanet 71 C0406443
Orphanet 58 ORPHA79153
UMLS 70 C0085661 C0406443 C3279974

Summaries for Nail Disorder, Nonsyndromic Congenital, 1

OMIM® : 57 Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NDNC1). (161050) (Updated 20-May-2021)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 1, also known as nail disorder, nonsyndromic congenital, 10, is related to nail disease and dermatitis, and has symptoms including nail bed hemorrhage and onychomadesis. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 1 is FZD6 (Frizzled Class Receptor 6), and among its related pathways/superpathways are PAK Pathway and Akt Signaling. The drugs Tavaborole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, myeloid and bone, and related phenotypes are onychogryposis and thin nail

Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.

MedlinePlus Genetics : 43 Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia).In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal.Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.

GARD : 20 Twenty-nail dystrophy is a condition that affects the nails of the fingers and toes. The nails become rough, thin, and brittle. They appear similar to sandpaper. It was once thought that all 20 nails will be affected, but any number of nails can become rough and brittle. This condition most commonly occurs in childhood, but it can occur at any age. The exact cause is often unknown, but sometimes appears with other skin conditions such as lichen planus, psoriasis and alopecia areata. In some people, the symptoms of twenty-nail dystrophy improve or disappear over time, but in other people they persist for a long time.

UniProtKB/Swiss-Prot : 72 Nail disorder, non-syndromic congenital, 1: An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development.

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 1

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 Nonsyndromic Congenital Nail Disorder

Diseases related to Nail Disorder, Nonsyndromic Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 nail disease 30.3 FZD6 CCRL2 CCR6 AIRE
2 dermatitis 30.1 TLR9 GZMB CXCR3 CCR6
3 childhood type dermatomyositis 30.0 CXCR3 CCRL2 CCR6
4 discoid lupus erythematosus 29.8 PDPN GZMB
5 autoimmune disease 28.3 TLR9 TG PRF1 CXCR3 CCR6 CCR5
6 ameloonychohypohidrotic syndrome 11.2
7 witkop syndrome 11.2
8 corneodermatoosseous syndrome 11.1
9 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.0
10 yellow nail syndrome 10.9
11 nail disorder, nonsyndromic congenital, 6 10.9
12 nail disorder, nonsyndromic congenital, 2 10.9
13 nail disorder, nonsyndromic congenital, 3 10.9
14 nail disorder, nonsyndromic congenital, 5 10.9
15 nail disorder, nonsyndromic congenital, 4 10.9
16 nail disorder, nonsyndromic congenital, 7 10.9
17 nail disorder, nonsyndromic congenital, 8 10.9
18 nail disorder, nonsyndromic congenital, 9 10.9
19 lichen planus 10.6
20 alopecia 10.5
21 alopecia areata 10.4
22 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
23 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
24 dermatographia 10.3 FIP1L1 CCR6
25 pdgfra-associated chronic eosinophilic leukemia 10.3 PDGFRA FIP1L1
26 esophageal candidiasis 10.3 CCR6 AIRE
27 cutaneous candidiasis 10.3 CCR6 AIRE
28 loeffler endocarditis 10.3 PDGFRA FIP1L1
29 paronychia 10.3
30 autoimmune polyendocrine syndrome, type ii 10.3 CCR6 AIRE
31 sm-ahnmd 10.3 PDGFRA FIP1L1
32 premature aging 10.3 TP63 PDGFRB
33 cerebellar angioblastoma 10.2 PDGFRA ETV6
34 alopecia universalis congenita 10.2
35 epithelial malignant thymoma 10.2 TG AIRE
36 dendritic cell thymoma 10.2 TG AIRE
37 adult acute lymphocytic leukemia 10.2 ETV6 CCR6 ABCG2
38 hyperthyroidism 10.2
39 myeloproliferative disorder, chronic, with eosinophilia 10.2 PDGFRB FIP1L1 ETV6
40 disseminated eosinophilic collagen disease 10.1 PDGFRA FIP1L1
41 ichthyosis vulgaris 10.1
42 ichthyosis 10.1
43 hypothyroidism 10.1
44 hypereosinophilic syndrome, idiopathic 10.1 PDGFRB PDGFRA FIP1L1
45 endomyocardial fibrosis 10.1 PDGFRB PDGFRA FIP1L1
46 anal spasm 10.1 TG AIRE
47 papillary thyroid microcarcinoma 10.1 TP63 TG
48 adrenal cortical hypofunction 10.1 TG CCR6 AIRE
49 myelodysplastic/myeloproliferative neoplasm 10.1 PDGFRB PDGFRA ETV6
50 endometrial small cell carcinoma 10.1 TG PDGFRA

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 1:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 1

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 1

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 1:

31
# Description HPO Frequency HPO Source Accession
1 onychogryposis 31 occasional (7.5%) HP:0001805
2 thin nail 31 HP:0001816
3 onycholysis 31 HP:0001806
4 trachyonychia 31 HP:0030804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Nails:
onychauxis (thick nails)
onycholysis (detachment of nail from the nail bed)
hyponychia
cracked nails
discolored nails (at birth)
more

Clinical features from OMIM®:

161050 (Updated 20-May-2021)

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 1:


nail bed hemorrhage; onychomadesis

MGI Mouse Phenotypes related to Nail Disorder, Nonsyndromic Congenital, 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.36 ABCG2 AIRE CCR5 CCR6 CCRL2 CXCR3
2 homeostasis/metabolism MP:0005376 10.34 ABCG2 AIRE CCR5 CCR6 CXCR3 ETV6
3 immune system MP:0005387 10.28 ABCG2 AIRE CCR5 CCR6 CCRL2 CXCR3
4 cellular MP:0005384 10.24 ABCG2 CCR5 CCRL2 CXCR3 ETV6 FGFR1
5 cardiovascular system MP:0005385 10.21 CCR5 CXCR3 ETV6 FGFR1 PDGFRA PDGFRB
6 digestive/alimentary MP:0005381 10.18 AIRE CCR5 ETV6 FGFR1 PDGFRA PDGFRB
7 mortality/aging MP:0010768 10.13 AIRE CCR5 CXCR3 ETV6 FGFR1 FZD6
8 integument MP:0010771 10.07 ABCG2 ETV6 FGFR1 FZD6 PDGFRA PDGFRB
9 nervous system MP:0003631 9.9 ABCG2 AIRE CCR5 CCR6 FGFR1 FZD6
10 neoplasm MP:0002006 9.8 AIRE CCR5 CXCR3 ETV6 PDGFRA PRF1
11 normal MP:0002873 9.77 ABCG2 AIRE CCR6 CCRL2 CXCR3 ETV6
12 reproductive system MP:0005389 9.28 AIRE CCR5 FGFR1 FZD6 PDGFRA PDGFRB

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 1

Drugs for Nail Disorder, Nonsyndromic Congenital, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tavaborole Approved, Investigational Phase 3 174671-46-6
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
4 Anti-Infective Agents Phase 3
5 Pharmaceutical Solutions Phase 3
6 Antifungal Agents Phase 3
7
Terbinafine Approved, Investigational, Vet_approved Phase 1 91161-71-6 5402 1549008
8
Dimenhydrinate Approved 523-87-5 441281
9
Docetaxel Approved, Investigational 114977-28-5 148124

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Vehicle-Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of AN2690 Topical Solution, 5%, vs. Solution Vehicle in the Treatment of Onychomycosis of the Toenail in Adults Completed NCT01270971 Phase 3 AN2690 Topical Solution, 5%;Solution Vehicle
2 A Randomized, Double-Blind, Vehicle-Controlled, Multi-Center Study to Evaluate the Efficacy and Safety of AN2690 Topical Solution, 5%, vs. Solution Vehicle in the Treatment of Onychomycosis of the Toenail in Adults Completed NCT01302119 Phase 3 AN2690 Topical Solution, 5%;Solution Vehicle
3 A Double-Blind, Randomized, Parallel Design Study To Assess the Safety and Pharmacokinetics of Terbinafine Hydrogen Cloride (HCl) Nail Lacquer Applied for 28 Days in Patients With Onychomycosis Completed NCT00691184 Phase 1 Placebo;Terbinafine Hydrochloride;Terbinafine Hydrochloride;Terbinafine
4 Distal Phalangeal Bone Involvement Observed by High Resolution Peripheral Quantitative Computed Tomography (HR-pQCT) in Patients With Nail Psoriasis Unknown status NCT02813720
5 A Prospective Randomized Controlled Trial of Evonail® Solution for Prevention or Treatment of Onycholysis in Breast Cancer Patients Who Received Neoadjuvant/Adjuvant Docetaxel Chemotherapy Completed NCT02670603 EVONAIL® solution

Search NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 1

Cochrane evidence based reviews: onycholysis

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 1

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 1:

# Genetic test Affiliating Genes
1 Nail Disorder, Nonsyndromic Congenital, 1 29 FZD6
2 Nail Disorder, Nonsyndromic Congenital, 10, (claw-Shaped Nails) 29

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 1

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 1:

40
Skin, Myeloid, Bone, Brain, Cortex, Thyroid, Salivary Gland

Publications for Nail Disorder, Nonsyndromic Congenital, 1

Articles related to Nail Disorder, Nonsyndromic Congenital, 1:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. 57 6 61
23374899 2013
2
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. 6 57
22211385 2012
3
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 6 57
21665003 2011
4
Twenty nail dystrophy trachyonychia: an overview. 57 61
17535400 2007
5
Twenty-nail dystrophy in monozygotic twins. 57 61
10343962 1999
6
Idiopathic trachyonychia (twenty-nail dystrophy): a pathological study of 23 patients. 57 61
7857841 1994
7
Twenty nail dystrophy in identical twins. 61 57
3412992 1988
8
Hereditary twenty-nail dystrophy in a Sicilian family. 57 61
7143386 1982
9
Familial severe twenty-nail dystrophy. 57 61
7130495 1982
10
Twenty-nail dystrophy of childhood. 57 61
831628 1977
11
Lyonization pattern of normal human nails. 57
18429815 2008
12
Twenty-Nail-Dystrophy / Trachyonychia: a case report in a five year old girl seen at the Paediatric Out-patient Department of a Tertiary Hospital in Lafia North-Central Nigeria. 61
33235657 2020
13
Twenty-Nail Dystrophy: Revisited. 61
29911530 2018
14
Therapeutic Efficacy of Combination Therapy Using Oral Cyclosporine with a Dietary Supplement (Pantogar®) in Twenty-Nail Dystrophy. 61
28966518 2017
15
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. 61
28839389 2017
16
Trachyonychia and Twenty-Nail Dystrophy: A Comprehensive Review and Discussion of Diagnostic Accuracy. 61
27843915 2016
17
Chronic Eosinophilic Leukemia Presenting Predominantly with Cutaneous Manifestations. 61
27512192 2016
18
Idiopathic 20-nail dystrophy. 61
26791123 2016
19
Twenty-Nail Dystrophy and Darier's (Darier-White) Disease. 61
26861433 2015
20
[The challenge for dermatologists of early APECED diagnosis]. 61
24703644 2014
21
Twenty nail dystrophy in association with zosteriform lichen planus. 61
22837581 2012
22
Clinical study of twenty-nail dystrophy in Korea. 61
21913910 2012
23
Utility of dermoscopy in alopecia areata. 61
21965849 2011
24
Segmental vitiligo and twenty-nail dystrophy: an unusual association. 61
19172003 2008
25
Alopecia universalis with twenty-nail dystrophy (trachyonychia). 61
18627760 2008
26
Polish dermatology in the 19th and the first half of the 20th centuries. 61
18173613 2008
27
Twenty nail dystrophy in vitiligo. 61
17291300 2007
28
[Twenty-nail dystrophy and lichen planus]. 61
17306112 2007
29
Common nail disorders. 61
16798432 2006
30
Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation. 61
16673558 2006
31
Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity? 61
16409932 2005
32
Efficacy of triamcinolone acetonide in various acquired nail dystrophies. 61
16471458 2005
33
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with gold allergy. 61
15888190 2005
34
Nail biopsy: assessment of indications and outcome. 61
15762213 2005
35
Twenty-nail dystrophy originating from lichen planus. 61
15654171 2005
36
Rapp-Hodgkin syndrome. 61
15748593 2004
37
Longitudinal nail biopsy: utility in 20-nail dystrophy. 61
14641339 2003
38
Twenty-nail dystrophy in a girl with incontinentia pigmenti. 61
12581087 2003
39
Twenty-nail dystrophy in a mother and her 7-year-old daughter associated with balanced translocation 46, XX, t(6q13;10p13). 61
12072794 2002
40
An association of twenty-nail dystrophy with vitiligo. 61
11280463 2001
41
Twenty-nail dystrophy and vitiligo: a rare association. 61
10071326 1999
42
A case report of twenty-nail dystrophy. 61
9046745 1997
43
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with alopecia universalis and ichthyosis vulgaris. 61
7593807 1995
44
Twenty-nail dystrophy due to lichen planus in a patient with alopecia areata. 61
8348737 1993
45
Twenty-nail dystrophy associated with hematologic abnormalities. 61
1755311 1991
46
Twenty-nail dystrophy of childhood with koilonychia. 61
2007303 1991
47
Twenty-nail dystrophy. A clinical manifestation of spongiotic inflammation of the nail matrix. 61
2383032 1990
48
Twenty-nail dystrophy treated with topical PUVA. 61
1981426 1990
49
Red lunulae revisited: a clinical and histopathologic examination. 61
2645322 1989
50
[Twenty-nail dystrophy]. 61
2733644 1989

Variations for Nail Disorder, Nonsyndromic Congenital, 1

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FZD6 NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter) SNV Pathogenic 827757 rs766284226 GRCh37: 8:104340628-104340628
GRCh38: 8:103328400-103328400
2 FZD6 NM_003506.4(FZD6):c.286C>T (p.Arg96Cys) SNV Pathogenic 499653 rs981045005 GRCh37: 8:104330926-104330926
GRCh38: 8:103318698-103318698
3 FZD6 NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys) SNV Pathogenic 827759 rs1371244150 GRCh37: 8:104337646-104337646
GRCh38: 8:103325418-103325418
4 FZD6 NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter) SNV Pathogenic 30355 rs151339002 GRCh37: 8:104342091-104342091
GRCh38: 8:103329863-103329863
5 FZD6 NM_003506.4(FZD6):c.1531C>T (p.Arg511Cys) SNV Pathogenic 30356 rs151339003 GRCh37: 8:104340634-104340634
GRCh38: 8:103328406-103328406
6 FZD6 NM_003506.4(FZD6):c.1393-2A>G SNV Likely pathogenic 993016 GRCh37: 8:104340494-104340494
GRCh38: 8:103328266-103328266
7 FZD6 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) SNV Uncertain significance 190461 rs786205672 GRCh37: 8:104337203-104337203
GRCh38: 8:103324975-103324975
8 FZD6 NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln) SNV Benign 802432 rs150760762 GRCh37: 8:104337548-104337548
GRCh38: 8:103325320-103325320

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 1:

72
# Symbol AA change Variation ID SNP ID
1 FZD6 p.Arg511Cys VAR_066398 rs151339003

Expression for Nail Disorder, Nonsyndromic Congenital, 1

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 1.

Pathways for Nail Disorder, Nonsyndromic Congenital, 1

Pathways related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.02 PDGFRB PDGFRA FGFR1 CXCR3 CCRL2 CCR6
2
Show member pathways
12.9 TLR9 PDGFRB PDGFRA FGFR1 CXCR3 CCRL2
3
Show member pathways
12.29 PDGFRB PDGFRA FZD6 FGFR1
4
Show member pathways
12.07 CXCR3 CCRL2 CCR6 CCR5
5
Show member pathways
12.02 PDGFRB PDGFRA FGFR1 CCR5
6 11.77 PDGFRB PDGFRA FZD6
7 11.57 GZMB CXCR3 CCR6
8 11.55 PDGFRA FGFR1 ABCG2
9 11.48 PDGFRB PDGFRA FGFR1
10
Show member pathways
11.26 PDGFRB PDGFRA ABCG2
11 11.15 PDGFRB PDGFRA FGFR1
12 11.07 PDGFRB PDGFRA FGFR1
13 10.87 PDPN PDGFRB PDGFRA FGFR1
14 10.66 PDGFRB PDGFRA
15
Show member pathways
10.66 PDGFRB PDGFRA ABCG2

GO Terms for Nail Disorder, Nonsyndromic Congenital, 1

Cellular components related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.22 TLR9 PRF1 PDPN PDGFRB PDGFRA FZD6
2 plasma membrane GO:0005886 10.07 TLR9 PROS1 PRF1 PDPN PDGFRB PDGFRA
3 cytoplasmic vesicle GO:0031410 9.85 TLR9 PRF1 PDPN PDGFRB FZD6 FGFR1
4 external side of plasma membrane GO:0009897 9.72 PDGFRA CXCR3 CCRL2 CCR6 CCR5
5 apical plasma membrane GO:0016324 9.55 TLR9 PDPN PDGFRB FZD6 ABCG2
6 cell surface GO:0009986 9.43 PDGFRB PDGFRA FZD6 CXCR3 CCR6 CCR5
7 integral component of plasma membrane GO:0005887 9.28 PDPN PDGFRB PDGFRA FZD6 FGFR1 CXCR3

Biological processes related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.17 TLR9 TG PDGFRB FZD6 CXCR3 CCRL2
2 immune response GO:0006955 9.88 TLR9 CXCR3 CCRL2 CCR6 CCR5 AIRE
3 MAPK cascade GO:0000165 9.86 PDGFRB PDGFRA FGFR1 CCR5
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.72 PDGFRB PDGFRA FGFR1
5 positive regulation of kinase activity GO:0033674 9.7 PDGFRB PDGFRA FGFR1
6 phosphatidylinositol-mediated signaling GO:0048015 9.67 PDGFRB PDGFRA FGFR1
7 calcium-mediated signaling GO:0019722 9.67 CXCR3 CCRL2 CCR6 CCR5
8 cellular defense response GO:0006968 9.65 PRF1 CCR6 CCR5
9 chemokine-mediated signaling pathway GO:0070098 9.62 CXCR3 CCRL2 CCR6 CCR5
10 dendritic cell chemotaxis GO:0002407 9.59 CCR6 CCR5
11 establishment of planar polarity GO:0001736 9.58 TP63 FZD6
12 response to hyperoxia GO:0055093 9.58 PDPN PDGFRB
13 positive regulation of cytosolic calcium ion concentration GO:0007204 9.55 PDGFRA CXCR3 CCRL2 CCR6 CCR5
14 cardiac myofibril assembly GO:0055003 9.54 PDGFRB PDGFRA
15 retina vasculature development in camera-type eye GO:0061298 9.51 PDGFRB PDGFRA
16 metanephric glomerular capillary formation GO:0072277 9.46 PDGFRB PDGFRA
17 positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway GO:0038091 9.43 PDGFRB PDGFRA
18 positive regulation of phospholipase C activity GO:0010863 9.43 PDGFRB PDGFRA FGFR1
19 chemotaxis GO:0006935 9.43 PDGFRB PDGFRA CXCR3 CCRL2 CCR6 CCR5
20 cell chemotaxis GO:0060326 9.1 PDGFRB PDGFRA CXCR3 CCRL2 CCR6 CCR5

Molecular functions related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 TP63 TLR9 TG PROS1 PRF1 PDPN
2 identical protein binding GO:0042802 10.01 TP63 TG PRF1 FGFR1 CXCR3 CCR5
3 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.54 PDGFRB PDGFRA FGFR1
4 platelet-derived growth factor receptor binding GO:0005161 9.48 PDGFRB PDGFRA
5 platelet-derived growth factor binding GO:0048407 9.46 PDGFRB PDGFRA
6 C-C chemokine binding GO:0019957 9.46 CXCR3 CCRL2 CCR6 CCR5
7 chemokine binding GO:0019956 9.43 PDPN CXCR3
8 vascular endothelial growth factor binding GO:0038085 9.32 PDGFRB PDGFRA
9 C-C chemokine receptor activity GO:0016493 9.26 CXCR3 CCRL2 CCR6 CCR5
10 chemokine receptor activity GO:0004950 8.92 CXCR3 CCRL2 CCR6 CCR5

Sources for Nail Disorder, Nonsyndromic Congenital, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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