Bustos Simosa Pinto Cisternas Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C2931488

Sources

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...

Sources

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
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:

Sources

Symptoms & Phenotypes for Bustos Simosa Pinto Cisternas Syndrome

Sources

Drugs & Therapeutics for Bustos Simosa Pinto Cisternas Syndrome

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

Sources

Genetic Tests for Bustos Simosa Pinto Cisternas Syndrome

Sources

Anatomical Context for Bustos Simosa Pinto Cisternas Syndrome

Organs/tissues related to Bustos Simosa Pinto Cisternas Syndrome:

MalaCards : Skin

Sources

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	Sozen MA...Spritz RA	11559849	2001
2	Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. ⁶² ⁵	Suzuki K...Spritz RA	10932188	2000
3	Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome? ⁵	Zlotogora J...Wexler MR	3035184	1987
4	The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility. ⁶²	Askarian S...Joodi M	35426585	2022
5	WNT10A, dermatology and dentistry. ⁶²	Doolan BJ...McGrath JA	34184264	2021
6	Disruption of the nectin-afadin complex recapitulates features of the human cleft lip/palate syndrome CLPED1. ⁶²	Lough KJ...Williams SE	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	Yoshida K...Niizeki H	25913853	2015
8	Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. ⁶²	Petrof G...McGrath JA	25152456	2014
9	Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. ⁶²	Fortugno P...Brancati F	24577405	2014
10	Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. ⁶²	Kantaputra P...Kantaputra W	24458874	2014
11	Late diagnosis of ectodermal dysplasia syndrome. ⁶²	Granger RH...McGrath JA	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	Cheng HQ...Tang SJ	22455396	2012
13	A comprehensive review of the genetic basis of cleft lip and palate. ⁶²	Kohli SS...Kohli VS	22438645	2012
14	Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. ⁶²	Brancati F...Dallapiccola B	20691405	2010
15	[Nectin and nectin-like molecules as markers, actors and targets in cancer]. ⁶²	Fournier G...Lopez M	20346277	2010
16	Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. ⁶²	Sozen MA...Spritz RA	19715471	2009
17	Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. ⁶²	Adaimy L...Megarbane A	17847007	2007
18	PVRL1 variants contribute to non-syndromic cleft lip and palate in multiple populations. ⁶²	Avila JR...Murray JC	17089422	2006
19	Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate. ⁶²	Scapoli L...Carinci F	16674562	2006
20	Ectodermal dysplasia with acanthosis nigricans (Lelis' syndrome). ⁶²	Samdani AJ	15456556	2004
21	An update on the aetiology of orofacial clefts. ⁶²	Wong FK...Hagg U	15479962	2004
22	Comparative usage of herpesvirus entry mediator A and nectin-1 by laboratory strains and clinical isolates of herpes simplex virus. ⁶²	Krummenacher C...Eisenberg RJ	15110526	2004
23	The complex genetics of cleft lip and palate. ⁶²	Cobourne MT	14994877	2004
24	Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. ⁶²	McGrath JA...van Bokhoven H	11159940	2001
25	A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. ⁶²	Argenziano G...Delfino M	9486713	1998
26	[Anodontia and hidrotic ectodermal dysplasia, hyporeactive to heat. Effect of acitretin]. ⁶²	Mashshini-Jason F...Lapiere CM	7979018	1994
27	Cutaneous findings in a new syndrome of autosomal recessive ectodermal dysplasia with corkscrew hairs. ⁶²	Abramovits-Ackerman W...Ramella M	1479096	1992
28	Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family. ⁶²	Richieri-Costa A...Pinheiro M	1456284	1992
29	Autosomal recessive ectodermal dysplasia. ⁶²	Lelis J	1628512	1992
30	Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. ⁶²	Wallis CE...Beighton P	1583659	1992
31	Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. ⁶²	Bustos T...Ramela M	1776626	1991
32	Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. ⁶²	Rodini ES...Richieri-Costa A	2167611	1990
33	Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. ⁶²	Wallis C...Beighton P	2773993	1989
34	Odontoonychodysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance. ⁶²	Pinheiro M...Gollop TR	2982262	1985
35	An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. ⁶²	Alves AF...Freire-Maia N	7304669	1981
36	[Autosomal recessive ectodermal dysplasia--a special nosologic entity? (author's transl)]. ⁶²	Lelis J	159839	1979

Sources

Genes for Bustos Simosa Pinto Cisternas Syndrome

Genes related to Bustos Simosa Pinto Cisternas Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NECTIN1	Nectin Cell Adhesion Molecule 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	3035184 10932188 11559849

Sources

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

Sources

Expression for Bustos Simosa Pinto Cisternas Syndrome

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

Sources

Pathways for Bustos Simosa Pinto Cisternas Syndrome

Sources

GO Terms for Bustos Simosa Pinto Cisternas Syndrome

Sources

Sources for Bustos Simosa Pinto Cisternas Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ED4 MCID: BST005 MIFTS: 24	Bustos Simosa Pinto Cisternas Syndrome (ED4) Categories: Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Expand all tables

Bustos Simosa Pinto Cisternas Syndrome (ED4)

Aliases & Classifications for Bustos Simosa Pinto Cisternas Syndrome

MalaCards integrated aliases for Bustos Simosa Pinto Cisternas Syndrome:

Classifications:

External Ids:

Summaries for Bustos Simosa Pinto Cisternas Syndrome

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:

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

Symptoms & Phenotypes for Bustos Simosa Pinto Cisternas Syndrome

Drugs & Therapeutics 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:

Publications for Bustos Simosa Pinto Cisternas Syndrome

Articles related to Bustos Simosa Pinto Cisternas Syndrome:

Genes for Bustos Simosa Pinto Cisternas Syndrome

Genes related to Bustos Simosa Pinto Cisternas Syndrome (1 elite genes):

Variations for Bustos Simosa Pinto Cisternas Syndrome

ClinVar genetic disease variations for Bustos Simosa Pinto Cisternas Syndrome:

Expression 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