ED4
MCID: BST005
MIFTS: 24

Bustos Simosa Pinto Cisternas Syndrome (ED4)

Categories: Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Bustos Simosa Pinto Cisternas Syndrome

MalaCards integrated aliases for Bustos Simosa Pinto Cisternas Syndrome:

Name: Bustos Simosa Pinto Cisternas Syndrome 19 19
Zlotogora Syndrome 19 75 5
Zlotogora-Ogur Syndrome 19 71
Ectodermal Dysplasia, Cleft Lip and Palate, Intellectual Disability, and Syndactyly 19
Syndactyly-Ectodermal Dysplasia-Cleft/lip Palate 19
Cleft Lip/palate-Syndactyly-Pili Torti Syndrome 19
Cleft Lip/palate-Ectodermal Dysplasia Syndrome 19
Ectodermal Dysplasia Margarita Island Type 19
Autosomal Recessive Ectodermal Dysplasia 19
Zlotogora-Zilberman-Tenenbaum Syndrome 19
Cleft Lip/palate-Syndactyly-Pili Torti 19
Ectodermal Dysplasia Type 4 19
Clped1 19
Ed4 19

Classifications:



External Ids:

UMLS 71 C2931488

Summaries for Bustos Simosa Pinto Cisternas Syndrome

GARD: 19 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

MalaCards based summary: Bustos Simosa Pinto Cisternas Syndrome, also known as zlotogora syndrome, is related to cleft lip/palate-ectodermal dysplasia syndrome and syndactyly ectodermal dysplasia cleft lip palate hand foot. An important gene associated with Bustos Simosa Pinto Cisternas Syndrome is NECTIN1 (Nectin Cell Adhesion Molecule 1). Affiliated tissues include skin.

Wikipedia: 75 Rosselli-Gulienetti syndrome, also known as Zlotogora-Ogur syndrome and Bowen-Armstrong syndrome, is a... more...

Related Diseases for Bustos Simosa Pinto Cisternas Syndrome

Diseases related to Bustos Simosa Pinto Cisternas Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 12.0
2 syndactyly ectodermal dysplasia cleft lip palate hand foot 11.6
3 acrofacial dysostosis, palagonia type 11.5
4 rosselli-gulienetti syndrome 11.3
5 odontoonychodermal dysplasia 11.2
6 ectodermal dysplasia/short stature syndrome 11.2
7 schopf-schulz-passarge syndrome 11.1
8 keratosis 10.3
9 nipples, supernumerary 10.3
10 chromosome 2q35 duplication syndrome 10.3
11 uncombable hair syndrome 1 10.3
12 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.3
13 pili torti, early-onset 10.3
14 tooth agenesis 10.3
15 ectodermal dysplasia 10.3
16 cleft lip 10.3
17 cleft lip/palate 10.3
18 lelis syndrome 10.2
19 trueb burg bottani syndrome 10.2
20 acanthosis nigricans 10.1
21 tooth agenesis, selective, 4 10.1
22 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
23 tuberous sclerosis 1 10.1
24 vitiligo-associated multiple autoimmune disease susceptibility 6 10.1
25 asthma 10.1
26 arthrogryposis and ectodermal dysplasia 10.1
27 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
28 tuberous sclerosis 2 10.1
29 autosomal dominant nonsyndromic deafness 10.1
30 autosomal recessive congenital ichthyosis 10.1
31 sensorineural hearing loss 10.1
32 anhidrosis 10.1
33 fissured tongue 10.1
34 entropion 10.1
35 tuberous sclerosis 10.1
36 dermatitis 10.1
37 nonsyndromic tooth agenesis 10.1
38 pigmentation anomaly of the skin 10.1
39 cleft palate, isolated 9.9
40 hypotrichosis 7 9.9
41 glass syndrome 9.9
42 palmoplantar keratosis 9.9
43 hypotrichosis 9.9

Graphical network of the top 20 diseases related to Bustos Simosa Pinto Cisternas Syndrome:



Diseases related to Bustos Simosa Pinto Cisternas Syndrome

Symptoms & Phenotypes for Bustos Simosa Pinto Cisternas Syndrome

Drugs & Therapeutics for Bustos Simosa Pinto Cisternas Syndrome

Search Clinical Trials, NIH Clinical Center for Bustos Simosa Pinto Cisternas Syndrome

Genetic Tests for Bustos Simosa Pinto Cisternas Syndrome

Anatomical Context for Bustos Simosa Pinto Cisternas Syndrome

Organs/tissues related to Bustos Simosa Pinto Cisternas Syndrome:

MalaCards : Skin

Publications for Bustos Simosa Pinto Cisternas Syndrome

Articles related to Bustos Simosa Pinto Cisternas Syndrome:

(show all 36)
# Title Authors PMID Year
1
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. 62 5
11559849 2001
2
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. 62 5
10932188 2000
3
Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? 5
3035184 1987
4
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. 62
35426585 2022
5
WNT10A, dermatology and dentistry. 62
34184264 2021
6
Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1. 62
32554531 2020
7
Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient. 62
25913853 2015
8
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. 62
25152456 2014
9
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. 62
24577405 2014
10
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. 62
24458874 2014
11
Late diagnosis of ectodermal dysplasia syndrome. 62
22670871 2013
12
PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients. 62
22455396 2012
13
A comprehensive review of the genetic basis of cleft lip and palate. 62
22438645 2012
14
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 62
20691405 2010
15
[Nectin and nectin-like molecules as markers, actors and targets in cancer]. 62
20346277 2010
16
Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. 62
19715471 2009
17
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. 62
17847007 2007
18
PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. 62
17089422 2006
19
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. 62
16674562 2006
20
Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome). 62
15456556 2004
21
An update on the aetiology of orofacial clefts. 62
15479962 2004
22
Comparative usage of herpesvirus entry mediator A and nectin-1 by laboratory strains and clinical isolates of herpes simplex virus. 62
15110526 2004
23
The complex genetics of cleft lip and palate. 62
14994877 2004
24
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. 62
11159940 2001
25
A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. 62
9486713 1998
26
[Anodontia and hidrotic ectodermal dysplasia, hyporeactive to heat. Effect of acitretin]. 62
7979018 1994
27
Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. 62
1479096 1992
28
Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. 62
1456284 1992
29
Autosomal recessive ectodermal dysplasia. 62
1628512 1992
30
Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. 62
1583659 1992
31
Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. 62
1776626 1991
32
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. 62
2167611 1990
33
Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. 62
2773993 1989
34
Odontoonychodysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance. 62
2982262 1985
35
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. 62
7304669 1981
36
[Autosomal recessive ectodermal dysplasia--a special nosologic entity? (author's transl)]. 62
159839 1979

Variations for Bustos Simosa Pinto Cisternas Syndrome

ClinVar genetic disease variations for Bustos Simosa Pinto Cisternas Syndrome:

5 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NECTIN1 NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter) SNV Pathogenic
8969 rs104894281 GRCh37: 11:119548444-119548444
GRCh38: 11:119677734-119677734
2 NECTIN1 NM_002855.5(NECTIN1):c.969dup (p.Thr324fs) DUP Pathogenic
8971 rs878853255 GRCh37: 11:119545902-119545903
GRCh38: 11:119675192-119675193
3 NECTIN1 NM_002855.5(NECTIN1):c.556del (p.Glu186fs) DEL Pathogenic
8970 rs876657374 GRCh37: 11:119548442-119548442
GRCh38: 11:119677732-119677732
4 NECTIN1 NM_002855.5(NECTIN1):c.472C>T (p.Arg158Ter) SNV Likely Pathogenic
984386 GRCh37: 11:119548526-119548526
GRCh38: 11:119677816-119677816
5 NECTIN1 NM_002855.5(NECTIN1):c.502C>T (p.Leu168=) SNV Uncertain Significance
880240 rs149093951 GRCh37: 11:119548496-119548496
GRCh38: 11:119677786-119677786
6 NECTIN1 NM_002855.5(NECTIN1):c.629G>A (p.Arg210His) SNV Uncertain Significance
880239 rs142863092 GRCh37: 11:119548369-119548369
GRCh38: 11:119677659-119677659
7 NECTIN1 NM_002855.5(NECTIN1):c.682G>A (p.Val228Ile) SNV Uncertain Significance
880237 rs200513188 GRCh37: 11:119548316-119548316
GRCh38: 11:119677606-119677606
8 NECTIN1 NM_002855.5(NECTIN1):c.*296T>C SNV Uncertain Significance
880196 rs769907939 GRCh37: 11:119535161-119535161
GRCh38: 11:119664451-119664451
9 NECTIN1 NM_002855.5(NECTIN1):c.*315T>C SNV Uncertain Significance
880195 rs565357962 GRCh37: 11:119535142-119535142
GRCh38: 11:119664432-119664432
10 NECTIN1 NM_002855.5(NECTIN1):c.*348C>T SNV Uncertain Significance
880194 rs748100409 GRCh37: 11:119535109-119535109
GRCh38: 11:119664399-119664399
11 NECTIN1 NM_002855.5(NECTIN1):c.*352C>T SNV Uncertain Significance
880193 rs59681945 GRCh37: 11:119535105-119535105
GRCh38: 11:119664395-119664395
12 NECTIN1 NM_002855.5(NECTIN1):c.*438C>T SNV Uncertain Significance
880192 rs760416313 GRCh37: 11:119535019-119535019
GRCh38: 11:119664309-119664309
13 NECTIN1 NM_002855.5(NECTIN1):c.*481C>T SNV Uncertain Significance
880191 rs148928883 GRCh37: 11:119534976-119534976
GRCh38: 11:119664266-119664266
14 NECTIN1 NM_002855.5(NECTIN1):c.*521G>C SNV Uncertain Significance
880190 rs998507978 GRCh37: 11:119534936-119534936
GRCh38: 11:119664226-119664226
15 NECTIN1 NM_002855.5(NECTIN1):c.*532T>C SNV Uncertain Significance
880189 rs138678304 GRCh37: 11:119534925-119534925
GRCh38: 11:119664215-119664215
16 NECTIN1 NM_002855.5(NECTIN1):c.*1330G>C SNV Uncertain Significance
880145 rs891490437 GRCh37: 11:119534127-119534127
GRCh38: 11:119663417-119663417
17 NECTIN1 NM_002855.5(NECTIN1):c.*1337T>C SNV Uncertain Significance
880144 rs114244021 GRCh37: 11:119534120-119534120
GRCh38: 11:119663410-119663410
18 NECTIN1 NM_002855.5(NECTIN1):c.*1368G>A SNV Uncertain Significance
880143 rs576817361 GRCh37: 11:119534089-119534089
GRCh38: 11:119663379-119663379
19 NECTIN1 NM_002855.5(NECTIN1):c.*1382T>C SNV Uncertain Significance
880142 rs545288869 GRCh37: 11:119534075-119534075
GRCh38: 11:119663365-119663365
20 NECTIN1 NM_002855.5(NECTIN1):c.*2852T>G SNV Uncertain Significance
877298 rs1864673248 GRCh37: 11:119532605-119532605
GRCh38: 11:119661895-119661895
21 NECTIN1 NM_002855.5(NECTIN1):c.*2847C>T SNV Uncertain Significance
877299 rs572933507 GRCh37: 11:119532610-119532610
GRCh38: 11:119661900-119661900
22 NECTIN1 NM_002855.5(NECTIN1):c.*2751G>A SNV Uncertain Significance
877300 rs368910346 GRCh37: 11:119532706-119532706
GRCh38: 11:119661996-119661996
23 NECTIN1 NM_002855.5(NECTIN1):c.*2750C>T SNV Uncertain Significance
877301 rs1433590018 GRCh37: 11:119532707-119532707
GRCh38: 11:119661997-119661997
24 NECTIN1 NM_002855.5(NECTIN1):c.*2733T>C SNV Uncertain Significance
877302 rs79306256 GRCh37: 11:119532724-119532724
GRCh38: 11:119662014-119662014
25 NECTIN1 NM_002855.5(NECTIN1):c.*1422G>A SNV Uncertain Significance
880140 rs973497387 GRCh37: 11:119534035-119534035
GRCh38: 11:119663325-119663325
26 NECTIN1 NM_002855.5(NECTIN1):c.*1554G>A SNV Uncertain Significance
880139 rs77555237 GRCh37: 11:119533903-119533903
GRCh38: 11:119663193-119663193
27 NECTIN1 NM_002855.5(NECTIN1):c.*1555C>T SNV Uncertain Significance
880138 rs1023855669 GRCh37: 11:119533902-119533902
GRCh38: 11:119663192-119663192
28 NECTIN1 NM_002855.5(NECTIN1):c.*2882G>A SNV Uncertain Significance
880103 rs1200712188 GRCh37: 11:119532575-119532575
GRCh38: 11:119661865-119661865
29 NECTIN1 NM_002855.5(NECTIN1):c.*3032T>C SNV Uncertain Significance
880098 rs774879984 GRCh37: 11:119532425-119532425
GRCh38: 11:119661715-119661715
30 NECTIN1 NM_002855.5(NECTIN1):c.*3087C>G SNV Uncertain Significance
880097 rs575574028 GRCh37: 11:119532370-119532370
GRCh38: 11:119661660-119661660
31 NECTIN1 NM_002855.5(NECTIN1):c.*554G>A SNV Uncertain Significance
878970 rs369160682 GRCh37: 11:119534903-119534903
GRCh38: 11:119664193-119664193
32 NECTIN1 NM_002855.5(NECTIN1):c.*607C>A SNV Uncertain Significance
878969 rs187441699 GRCh37: 11:119534850-119534850
GRCh38: 11:119664140-119664140
33 NECTIN1 NM_002855.5(NECTIN1):c.*736C>T SNV Uncertain Significance
878967 rs561395081 GRCh37: 11:119534721-119534721
GRCh38: 11:119664011-119664011
34 NECTIN1 NM_002855.5(NECTIN1):c.*780G>T SNV Uncertain Significance
878966 rs115196807 GRCh37: 11:119534677-119534677
GRCh38: 11:119663967-119663967
35 NECTIN1 NM_002855.5(NECTIN1):c.*795C>A SNV Uncertain Significance
878965 rs750967066 GRCh37: 11:119534662-119534662
GRCh38: 11:119663952-119663952
36 NECTIN1 NM_002855.5(NECTIN1):c.*853C>G SNV Uncertain Significance
878964 rs368934157 GRCh37: 11:119534604-119534604
GRCh38: 11:119663894-119663894
37 NECTIN1 NM_002855.5(NECTIN1):c.*1595C>A SNV Uncertain Significance
878924 rs368193026 GRCh37: 11:119533862-119533862
GRCh38: 11:119663152-119663152
38 NECTIN1 NM_002855.5(NECTIN1):c.*2692C>G SNV Uncertain Significance
877304 rs1864675866 GRCh37: 11:119532765-119532765
GRCh38: 11:119662055-119662055
39 NECTIN1 NM_002855.5(NECTIN1):c.*1266C>T SNV Uncertain Significance
877350 rs1305206364 GRCh37: 11:119534191-119534191
GRCh38: 11:119663481-119663481
40 NECTIN1 NM_002855.5(NECTIN1):c.*1241T>A SNV Uncertain Significance
877351 rs963747375 GRCh37: 11:119534216-119534216
GRCh38: 11:119663506-119663506
41 NECTIN1 NM_002855.5(NECTIN1):c.*1184G>T SNV Uncertain Significance
877352 rs370017613 GRCh37: 11:119534273-119534273
GRCh38: 11:119663563-119663563
42 NECTIN1 NM_002855.5(NECTIN1):c.*1179C>G SNV Uncertain Significance
877353 rs142206052 GRCh37: 11:119534278-119534278
GRCh38: 11:119663568-119663568
43 NECTIN1 NM_002855.5(NECTIN1):c.*1168C>T SNV Uncertain Significance
877354 rs572202348 GRCh37: 11:119534289-119534289
GRCh38: 11:119663579-119663579
44 NECTIN1 NM_002855.5(NECTIN1):c.*1139G>A SNV Uncertain Significance
877355 rs60405761 GRCh37: 11:119534318-119534318
GRCh38: 11:119663608-119663608
45 NECTIN1 NM_002855.5(NECTIN1):c.*1132G>A SNV Uncertain Significance
877356 rs147857166 GRCh37: 11:119534325-119534325
GRCh38: 11:119663615-119663615
46 NECTIN1 NM_002855.5(NECTIN1):c.*1129A>T SNV Uncertain Significance
877357 rs140371623 GRCh37: 11:119534328-119534328
GRCh38: 11:119663618-119663618
47 NECTIN1 NM_002855.5(NECTIN1):c.*269C>T SNV Uncertain Significance
877404 rs138302957 GRCh37: 11:119535188-119535188
GRCh38: 11:119664478-119664478
48 NECTIN1 NM_002855.5(NECTIN1):c.*201G>A SNV Uncertain Significance
877405 rs982875298 GRCh37: 11:119535256-119535256
GRCh38: 11:119664546-119664546
49 NECTIN1 NM_002855.5(NECTIN1):c.*185T>C SNV Uncertain Significance
877406 rs543648905 GRCh37: 11:119535272-119535272
GRCh38: 11:119664562-119664562
50 NECTIN1 NM_002855.5(NECTIN1):c.*165G>T SNV Uncertain Significance
877407 rs574144297 GRCh37: 11:119535292-119535292
GRCh38: 11:119664582-119664582

Expression for Bustos Simosa Pinto Cisternas Syndrome

Search GEO for disease gene expression data for Bustos Simosa Pinto Cisternas Syndrome.

Pathways for Bustos Simosa Pinto Cisternas Syndrome

GO Terms for Bustos Simosa Pinto Cisternas Syndrome

Sources for Bustos Simosa Pinto Cisternas Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....