Ifap Syndrome 1, with or Without Bresheck Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

IFAP1 MCID: IFP002 MIFTS: 55	Ifap Syndrome 1, with or Without Bresheck Syndrome (IFAP1) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ifap Syndrome 1, with or Without Bresheck Syndrome

MalaCards integrated aliases for Ifap Syndrome 1, with or Without Bresheck Syndrome:

Name: Ifap Syndrome 1, with or Without Bresheck Syndrome ⁵⁷

Ifap Syndrome with or Without Bresheck Syndrome ⁵⁷ ⁷³ ²⁹ ¹³ ⁶ ³⁹

Ichthyosis Follicularis, Atrichia, and Photophobia with or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/eye Anomalies, Cleft Palate/cryptorchidism, and Kidney Dysplasia/hypoplasia ⁵⁷ ⁷³

Ichthyosis Follicularis-Alopecia-Photophobia Syndrome ⁵⁸ ¹⁵

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome ⁵⁸ ⁷³

Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome ³⁶

Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1 ¹²

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1 ¹²

Ichthyosis Follicularis Atrichia Photophobia Syndrome ⁴⁴

Ifap Syndrome 1 with or Without Bresheck Syndrome ¹²

Bresheck Syndrome ⁵⁸

Ifap Syndrome 1 ¹²

Bresek Syndrome ⁵⁸

Ifap Syndrome ⁵⁸

Photophobia ⁴⁴

Ifap1 ⁵⁷

Ifaps ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

ichthyosis follicularis-alopecia-photophobia syndrome
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

bresek syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Miscellaneous:
onset at birth
highly variable severity

Inheritance:
x-linked recessive

HPO:

³¹

ifap syndrome 1, with or without bresheck syndrome:
Onset and clinical course neonatal death variable expressivity congenital onset
Inheritance x-linked recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111821

OMIM® ⁵⁷ 308205

OMIM Phenotypic Series ⁵⁷ PS308205

KEGG ³⁶ H00740

MeSH ⁴⁴ C536085 D000505 D007057 more

MESH via Orphanet ⁴⁵ C536085

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C1839988 C3502469

Orphanet ⁵⁸ ORPHA2273 ORPHA85284

MedGen ⁴¹ C1839988 C3275579

SNOMED-CT via HPO ⁶⁸ 103276001 111266001 123983008 more

UMLS ⁷¹ C1839988

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Summaries for Ifap Syndrome 1, with or Without Bresheck Syndrome

KEGG : ³⁶ Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by congenital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early childhood. Other features include short stature, seizures, and mental retardation. The causative gene is MBTPS2 which encodes a membrane-embedded zinc metalloprotease involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP syndrome.

MalaCards based summary : Ifap Syndrome 1, with or Without Bresheck Syndrome, also known as ifap syndrome with or without bresheck syndrome, is related to ichthyosis follicularis atrichia photophobia syndrome and keratitis-ichthyosis-deafness syndrome, autosomal dominant, and has symptoms including seizures and photophobia. An important gene associated with Ifap Syndrome 1, with or Without Bresheck Syndrome is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Chks in Checkpoint Regulation. The drugs Diclofenac and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and kidney, and related phenotypes are intellectual disability and hydrocephalus

Disease Ontology : ¹² A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has material basis in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.

OMIM® : ⁵⁷ The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). (308205) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ IFAP syndrome with or without BRESHECK syndrome: A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well- preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.

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Related Diseases for Ifap Syndrome 1, with or Without Bresheck Syndrome

Diseases related to Ifap Syndrome 1, with or Without Bresheck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 308)

#	Related Disease	Score	Top Affiliating Genes
1	ichthyosis follicularis atrichia photophobia syndrome	32.8	SREBF1 MBTPS2 GJB2
2	keratitis-ichthyosis-deafness syndrome, autosomal dominant	31.7	TGM1 GJB2
3	olmsted syndrome, x-linked	30.3	TRPV3 MBTPS2
4	keratosis	30.3	TGM1 MBTPS2 GJB2
5	mutilating palmoplantar keratoderma with periorificial keratotic plaques	30.1	TRPV3 MBTPS2
6	ichthyosis	28.9	TGM1 SPINK5 MPLKIP MBTPS2 GTF2H5 GJB2
7	blue cone monochromacy	11.1
8	corneal dystrophy, meesmann, 1	11.0
9	corneal dystrophy, gelatinous drop-like	11.0
10	cone dystrophy 4	11.0
11	achromatopsia 2	11.0
12	corneal dystrophy, fleck	11.0
13	corneal dystrophy, congenital stromal	11.0
14	cone-rod synaptic disorder, congenital nonprogressive	11.0
15	ifap syndrome 2	11.0
16	judge misch wright syndrome	10.9
17	cystinosis	10.9
18	tyrosinemia	10.9
19	cone-rod dystrophy 2	10.9
20	cone-rod dystrophy, x-linked, 1	10.9
21	oculocutaneous albinism	10.9
22	ocular albinism	10.9
23	achromatopsia	10.9
24	albinism, oculocutaneous, type vi	10.9
25	corneodermatoosseous syndrome	10.9
26	keratoendotheliitis fugax hereditaria	10.9
27	lymphedema-distichiasis syndrome	10.9
28	albinism, oculocutaneous, type ia	10.9
29	leber congenital amaurosis 1	10.9
30	jalili syndrome	10.9
31	cystinosis, adult nonnephropathic	10.9
32	senior-loken syndrome 1	10.9
33	mohr-tranebjaerg syndrome	10.9
34	albinism, oculocutaneous, type ib	10.9
35	leber congenital amaurosis 6	10.9
36	achromatopsia 4	10.9
37	achromatopsia 7	10.9
38	night blindness, congenital stationary, type 1h	10.9
39	ectodermal dysplasia 15, hypohidrotic/hair type	10.9
40	corneal dystrophy, meesmann, 2	10.9
41	leber plus disease	10.9
42	alopecia-contractures-dwarfism-intellectual disability syndrome	10.9
43	keratitis-ichthyosis-deafness syndrome, autosomal recessive	10.8
44	supranuclear palsy, progressive, 1	10.8
45	prolonged electroretinal response suppression	10.8
46	pre-eclampsia	10.8
47	aniridia 1	10.8
48	tyrosinemia, type ii	10.8
49	paroxysmal hemicrania	10.8
50	spondyloarthropathy 1	10.7

Graphical network of the top 20 diseases related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

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Symptoms & Phenotypes for Ifap Syndrome 1, with or Without Bresheck Syndrome

Human phenotypes related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

⁵⁸ ³¹ (show top 50) (show all 128)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	hydrocephalus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000238
3	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
4	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Very frequent (99-80%),Occasional (29-5%)	HP:0000252
5	ichthyosis ⁵⁸ ³¹	hallmark (90%)	Occasional (29-5%),Very frequent (99-80%)	HP:0008064
6	photophobia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000613
7	intellectual disability, severe ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010864
8	cryptorchidism ⁵⁸ ³¹	occasional (7.5%)	Very frequent (99-80%),Occasional (29-5%)	HP:0000028
9	low-set ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000369
10	specific learning disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001328
11	alopecia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0001596
12	protruding ear ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000411
13	renal hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000089
14	papule ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200034
15	optic nerve hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000609
16	hypoplasia of the bladder ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005343
17	sparse hair ³¹	hallmark (90%)		HP:0008070
18	seizure ³¹	hallmark (90%)		HP:0001250
19	failure to thrive ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001508
20	scoliosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002650
21	developmental regression ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002376
22	hearing impairment ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000365
23	recurrent respiratory infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002205
24	immunodeficiency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002721
25	hyperkeratosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000962
26	cleft palate ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0000175
27	hypohidrosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000966
28	intrauterine growth retardation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001511
29	hyperconvex fingernails ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001812
30	aganglionic megacolon ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%),Occasional (29-5%)	HP:0002251
31	iris coloboma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000612
32	microphthalmia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000568
33	vesicoureteral reflux ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000076
34	hemivertebrae ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002937
35	erythema ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010783
36	eczema ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000964
37	convex nasal ridge ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000444
38	decreased testicular size ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008734
39	hypoplastic fingernail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001804
40	plagiocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001357
41	postaxial hand polydactyly ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001162
42	corneal erosion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0200020
43	feeding difficulties ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011968
44	dementia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000726
45	absent eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002223
46	renal dysplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000110
47	thin fingernail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012742
48	recurrent bacterial infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002718
49	heat intolerance ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002046
50	thin eyebrow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0045074

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neurologic Central Nervous System:
seizures
brain atrophy
olivopontocerebellar atrophy
mental retardation
delayed psychomotor development
more

Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Eyes:
photophobia
corneal opacities
corneal erosions
corneal ulcerations
vascularizing keratitis

Skin Nails Hair Skin:
erythroderma
follicular hyperkeratosis
ectodermal dysplasia
desquamation
dry, scaly skin

Genitourinary Kidneys:
unilateral renal agenesis
multicystic kidneys
dysplastic kidneys

Growth Other:
growth retardation

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies

Head And Neck Ears:
hearing loss (variable)

Abdomen Gastrointestinal:
hirschsprung disease (variable)

Skin Nails Hair Skin Histology:
reduced numbers of hair follicles

Skeletal Spine:
scoliosis
vertebral anomalies

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Chest External Features:
unilateral chest hypoplasia

Skin Nails Hair Nails:
dystrophic nails

Skeletal Hands:
postaxial polydactyly (rare)

Head And Neck Mouth:
cleft palate (variable)

Skeletal Pelvis:
hip dislocation (rare)

Skin Nails Hair Hair:
alopecia, generalized
lack of eyebrows and eyelashes

Clinical features from OMIM®:

308205 (Updated 05-Mar-2021)

UMLS symptoms related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

seizures, photophobia

MGI Mouse Phenotypes related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.23	CNGA3 ERCC3 GJB2 MBTPS1 MPLKIP SPINK5

Sources

Drugs & Therapeutics for Ifap Syndrome 1, with or Without Bresheck Syndrome

Drugs for Ifap Syndrome 1, with or Without Bresheck Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Diclofenac

Approved, Vet_approved

Phase 3

15307-86-5

3033

Synonyms:

(2,6-Dichlorophenyl)amino]benzeneacetic acid

[2-(2,6-Dichloroanilino)phenyl]acetate

[2-(2,6-dichloroanilino)phenyl]acetic acid

[2-(2,6-Dichloroanilino)phenyl]acetic acid

[o-(2,6-Dichloroanilino)phenyl]acetic acid

{2-[(2,6-dichlorophenyl)amino]phenyl}acetic acid

15307-81-0 (mono-potassium salt)

15307-86-5

2-((2,6-Dichlorophenyl)amino)benzeneacetate

2-((2,6-dichlorophenyl)amino)benzeneacetic acid

2-((2,6-Dichlorophenyl)amino)benzeneacetic acid

2-(2,6-Dichloroanilino)phenylacetic Acid

2-(2,6-Dichlorophenylamino)phenylacetic acid

2-[(2,6-Dichlorophenyl)amino]benzeneacetic acid

2-[2-(2,6-dichloroanilino)phenyl]acetic acid

2-[2-(2,6-Dichlorophenylamino)phenyl]acetic acid

2-[2,6-DICHLOROPHENYL)AMINO]BENZENEACETIC ACID

2b17

AC1L1F0T

Acetic acid, [o-(2,6-dichloroanilino)phenyl]- (8CI)

AKOS001579542

Allvoran

Apo-Diclo

Assaren

Benfofen

Benzeneacetic acid, 2-((2,6-dichlorophenyl)amino)- (9CI)

BIDD:GT0380

BPBio1_000516

BRD-K08252256-236-05-6

BRN 2146636

BSPBio_000468

BSPBio_002169

C01690

Cataflam

CHEBI:47381

CHEMBL139

CID3033

cMAP_000014

D07816

D30801

D3748

DB00586

Delphimix

dichlofenac

Dichlofenac

Dichlofenal

Dichronic

Diclac

Diclobenin

diclofenac

Diclofenac

Diclofenac (INN)

Diclofenac [INN:BAN]

Diclofenac acid

Diclofenac Acid

Diclofenac potassium

Diclofenac Potassium

Diclofenac sodium

Diclofenac Sodium

Diclofenac, sodium

Diclofenaco

Diclofenaco [INN-Spanish]

Diclofenacum

Diclofenacum [INN-Latin]

Diclofenamate

Diclofenamic acid

Diclomelan

Diclonate p

Diclonate P

Diclophenac

Diclo-Phlogont

Diclo-Puren

Diclord

Dicloreum

Dicloreuma

Dicrofenac

DIF

DivK1c_000272

DivK1c_000402

Dolobasan

Duravolten

Dyloject

Ecofenac

Effekton

EINECS 239-348-5

Feloran

GP-45,840

henyl)-o-aminophenylacetic acid

HMS2090C10

HMS501E04

HSDB 7234

I14-7739

IDI1_000272

IDI1_000402

ISV-205

KBio1_000272

KBio1_000402

KBio2_001410

KBio2_002306

KBio2_003978

KBio2_004874

KBio2_006546

KBio2_007442

KBio3_001389

KBio3_002786

KBioGR_001051

KBioGR_002306

KBioSS_001410

KBioSS_002308

Kriplex

Lopac0_000441

LS-11575

MolPort-000-003-072

N-(2,6-Dichlorop

NCGC00021125-01

Neriodin

NINDS_000272

NINDS_000402

Novapirina

Novo-Difenac

Novo-Difenac SR

Nu-Diclo

Oprea1_011155

Orthofen

Orthophen

Ortofen

Pennsaid

Prestwick0_000594

Prestwick1_000594

Prestwick2_000594

Prestwick3_000594

Primofenac

Prophenatin

ProSorb-D

Rhumalgan

SBB068617

Sodium diclofenac

Solaraze

Solaraze (TN)

Solaraze T

SPBio_001081

SPBio_002687

Spectrum_000930

Spectrum2_000991

Spectrum3_000385

Spectrum4_000506

Spectrum5_000867

SR 38

SR-38

STK984493

Transfenac

Tsudohmin

UNII-144O8QL0L1

UNM000001216103

Valetan

Voldal

Voltaflan

Voltaren

Voltaren Ophtha

Voltaren ophthalmic

Voltaren Ophthalmic

Voltaren Rapide

Voltaren SR

Voltaren-XR

Voltarol

Xenid

Zorvolex

Lidocaine

Approved, Vet_approved

Phase 3

137-58-6

3676

Synonyms:

.alpha.-(Diethylamino)-2,6-acetoxylidide

.alpha.-Diethylamino-2,6-dimethylacetanilide

.alpha.-Diethylaminoaceto-2,6-xylidide

.omega.-Diethylamino-2,6-dimethylacetanilide

137-58-6

2-(Diethylamino)-2',6'-acetoxylidide

2-(Diethylamino)-N-(2,6-dimethylphenyl)acetamide

2-2ETN-2MePhAcN

2-Diethylamino-N-(2,6-dimethylphenyl)acetamide

2-Diethylamino-N-(2,6-dimethyl-phenyl)-acetamide

4-12-00-02538 (Beilstein Handbook Reference)

6108-05-0 (MONOHYDROCHLORIDE MONOHYDRATE))

6108-05-0 (mono-hydrochloride, mono-hydrate)

73-78-9 (mono-hydrochloride)

AB00053581

AC-10282

AC1L1GGQ

AC1Q2Z7J

a-Diethylamino-2,6-dimethylacetanilide

After Burn Double Strength Gel

After Burn Double Strength Spray

After Burn Gel

After Burn Spray

AKOS001026768

alfa-Dietilamino-2,6-dimetilacetanilide

alfa-Dietilamino-2,6-dimetilacetanilide [Italian]

Alphacaine

alpha-diethylamino-2,6-dimethylacetanilide

alpha-Diethylamino-2,6-dimethylacetanilide

Anestacon

Anestacon Jelly

ARONIS23855

Astrazeneca brand OF lidocaine

BIDD:GT0342

Bio-0767

Bio1_000379

Bio1_000868

Bio1_001357

Bio2_000079

Bio2_000559

BPBio1_000197

BRD-K52662033-001-02-6

BRD-K52662033-003-05-5

BRN 2215784

BSPBio_000179

BSPBio_001359

BSPBio_003004

C07073

C14H22N2O

Cappicaine

CAS-73-78-9

CDS1_000283

CHEBI:6456

CHEMBL79

CID3676

Cito optadren

CPD000058189

Cuivasil

D00358

Dalcaine

DB00281

Dentipatch

Dentipatch (TN)

DermaFlex

Diethylaminoaceto-2,6-xylidide

Dilocaine

DivK1c_000174

DivK1c_001323

Duncaine

EINECS 205-302-8

ELA-Max

EMBOLEX

Emla Cream

Esracaine

FT-0082378

Gravocain

HMS1791D21

HMS1989D21

HMS2051C21

HMS2089E15

HMS548M19

HSDB 3350

I01-2704

IDI1_000174

IDI1_033829

Isicaina

Isicaine

Jenapharm brand OF lidocanine hydrochloride

Jetocaine

KBio1_000174

KBio2_000079

KBio2_001598

KBio2_002647

KBio2_004166

KBio2_005215

KBio2_006734

KBio3_000157

KBio3_000158

KBio3_002224

KBioGR_000079

KBioGR_000599

KBioSS_000079

KBioSS_001598

L0156

L1026_SIGMA

L7757_SIGMA

Lanabiotic

L-Caine

Leostesin

Lida-Mantle

Lidocaina

Lidocaína

Lidocaina [INN-Spanish]

lidocaine

Lidocaine

LIDOCAINE (73-58-6 (MONOHYDROCHLORIDE)

Lidocaine (JP15/USP/INN)

Lidocaine (VAN)

Lidocaine [USAN:INN:JAN]

Lidocaine carbonate

Lidocaine Carbonate

Lidocaine carbonate (2:1)

Lidocaine hydrocarbonate

Lidocaine Hydrocarbonate

Lidocaine hydrochloride

Lidocaine monoacetate

Lidocaine monohydrochloride

Lidocaine Monohydrochloride

Lidocaine monohydrochloride, monohydrate

Lidocaine sulfate (1:1)

Lidocainum

Lidocainum [INN-Latin]

Lidocaton

Lidoderm

Lidoject-1

Lidoject-2

LIDOPEN

Lignocaine

Lignocainum

Lingocaine

Lopac0_000669

Lopac-L-5647

LQZ

LS-805

Maricaine

Maybridge1_002571

MLS000069724

MLS000758263

MLS001074177

MolPort-001-783-478

N-(2,6-dimethylphenyl)-N(2),N(2)-diethylglycinamide

N-(2,6-dimethylphenyl)-N~2~,N~2~-diethylglycinamide

NCGC00015611-01

NCGC00015611-02

NCGC00015611-03

NCGC00015611-04

NCGC00015611-14

NCGC00022176-05

NCGC00022176-06

NCGC00022176-07

NCGC00022176-08

NCGC00022176-09

nchembio.65-comp16

NINDS_000174

Norwood Sunburn Spray

Novocol brand OF lidocaine hydrochloride

NSC 40030

NSC40030

Octocaine

Octocaine-100

Octocaine-50

Prestwick0_000050

Prestwick1_000050

Prestwick2_000050

Prestwick3_000050

Remicaine

Rocephin Kit

Rucaina

S1357_Selleck

SAM001247018

SMR000058189

Solarcaine aloe extra burn relief cream

Solcain

SPBio_001525

SPBio_002100

Spectrum_001118

Spectrum2_001343

Spectrum3_001392

Spectrum4_000070

Spectrum5_001549

STK552033

Strathmann brand OF lidocaine hydrochloride

UNII-98PI200987

WLN: 2N2 & 1VMR B1 F1

Xilina

Xilocaina

Xilocaina [Italian]

Xllina

Xycaine

Xylestesin

Xylesthesin

Xylocain

Xylocaine

Xylocaine (TN)

Xylocaine 5% Spinal

Xylocaine CO2

Xylocaine Dental Ointment

Xylocaine Endotracheal

Xylocaine Test Dose

Xylocaine Viscous

Xylocaine-Mpf

Xylocaine-Mpf with Glucose

Xylocard

Xylocitin

Xyloneural

Xyloneural (free base)

Xylotox

Zilactin-L

Zingo

α-diethylamino-2,6-dimethylacetanilide

Α-diethylamino-2,6-dimethylacetanilide

Anti-Inflammatory Agents

Phase 3

Analgesics, Non-Narcotic

Phase 3

Anti-Inflammatory Agents, Non-Steroidal

Phase 3

Analgesics

Phase 3

Antirheumatic Agents

Phase 3

Cyclooxygenase Inhibitors

Phase 3

Anesthetics

Phase 3

Anti-Arrhythmia Agents

Phase 3

Sodium Channel Blockers

Phase 3

Diuretics, Potassium Sparing

Phase 3

Anesthetics, Local

Phase 3

Pharmaceutical Solutions

Phase 3

Parasympatholytics

Phase 1, Phase 2

Respiratory System Agents

Phase 1, Phase 2

Anti-Asthmatic Agents

Phase 1, Phase 2

Cholinergic Antagonists

Phase 1, Phase 2

Neurotransmitter Agents

Phase 1, Phase 2

Mydriatics

Phase 1, Phase 2

Muscarinic Antagonists

Phase 1, Phase 2

Bronchodilator Agents

Phase 1, Phase 2

Cholinergic Agents

Phase 1, Phase 2

Tacrolimus

Approved, Investigational

104987-11-3

445643 439492 6473866

Synonyms:

(-)-FK 506

(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone

104987-11-3

109581-93-3 (Hydrate)

15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,

3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone

8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN

AC-1182

AC1L1K7H

AC1L97GB

AC1L9IBU

Advagraf

AKOS005145901

Ambap104987-11-3

Ambap5429

Anhydrous tacrolimus

Anhydrous, tacrolimus

BCBcMAP01_000194

Bio-0921

Bio2_000470

Bio2_000950

BRD-K35452788-001-02-1

BSPBio_001279

BSPBio-001279

C01375

C44H69NO10

CCRIS 7124

CHEBI:100924

CHEBI:61049

CHEMBL1200738

CID11158639

CID11556866

CID439492

CID445643

CID5372

CID5472317

CID6426916

CID6436007

CID6473866

CID6536850

CID6610362

CID6912836

CID9832283

CID9853905

CID9918805

CID9940643

CID9963169

Cilag brand OF tacrolimus

CPD000466356

CPD-10016

D08556

DB00864

DivK1c_001040

FK 506

FK5

Fk-506

FK506

FK-506

FR 900506

FR900506

FR-900506

FT-0082660

Fujimycin

Fujisawa brand OF tacrolimus

Graceptor

HMS1362O21

HMS1792O21

HMS1990O21

HMS2051C18

HMS2093M19

HMS503O21

IDI1_001040

IDI1_002225

Janssen brand OF tacrolimus

K506

KBio1_001040

KBio2_000619

KBio2_003187

KBio2_005755

KBio3_001097

KBio3_001098

KBioGR_000619

KBioSS_000619

L 679934

L-679934

LCP-Tacro

LMPK04000003

LS-64247

MLS000759471

MLS001424054

Modigraf

MolPort-003-666-518

NCGC00163470-01

NCGC00163470-02

NCGC00163470-03

NCGC00163470-04

NCGC00179232-01

NChemBio.2007.16-comp1

nchembio.2007.23-comp2

NINDS_001040

NSC717865

Prograf

Prograf (TN)

Prograft

Protopic

Protopy

S5003_Selleck

SAM001246677

SMR000466356

Tacarolimus

tacrolimus

Tacrolimus

Tacrolimus (anhydrous)

Tacrolimus (INN)

Tacrolimus (Prograf?)

Tacrolimus anhydrous

tacrolimus hydrate

Tacrolimus, anhydrous

Tsukubaenolide

UNII-Y5L2157C4J

Atropine

Approved, Vet_approved

5908-99-6, 51-55-8

174174

Synonyms:

(+-)-atropine

(+-)-Atropine

(+-)-hyoscyamine

(+-)-Hyoscyamine

(+,-)-Tropyl tropate

(+,-)-Tropyl tropic acid

(+/-)-Atropine

(+/-)-Hyoscyamine

(±)-atropine

(±)-hyoscyamine

(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl (2S)-3-hydroxy-2-phenylpropanoate

(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3-hydroxy-2-phenylpropanoate

(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl tropate

(3-endo)-8-Methyl-8-azabicyclo[3.2.1]oct-3-yl tropate

(3-endo)-8-Methyl-8-azabicyclo[3.2.1]oct-3-yl tropic acid

(3-endo)-8-methyl-8-azabicyclo[3.2.1]octan-3-ol

(3-endo,8-syn)-3-[(3-hydroxy-2-phenylpropanoyl)oxy]-8-methyl-8-azoniabicyclo[3.2.1]octane

(3-exo)-8-methyl-8-azabicyclo[3.2.1]octan-3-ol

[(1R,5S)-8-methyl-8-azabicyclo[3.2.1]octan-3-yl] 3-hydroxy-2-phenylpropanoate

[(1S,5R)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl] 3-hydroxy-2-phenyl-propanoate

[(1S,5R)-8-Methyl-8-azabicyclo[3.2.1]oct-3-yl] 3-hydroxy-2-phenyl-propanoate

[(1S,5R)-8-Methyl-8-azabicyclo[3.2.1]oct-3-yl] 3-hydroxy-2-phenyl-propanoic acid

120-29-6

1alphaH,5alphaH-Tropan-3alpha-ol

1alphaH,5alphaH-Tropan-3alpha-ol (+-)-tropate (ester)

1-alpha-H,5-alpha-H-Tropan-3-alpha-ol (+-)-tropate (ester)

1-alpha-H,5-alpha-H-Tropan-3-alpha-ol (+-)-tropate (ester) (8CI)

1alphaH,5alphaH-Tropan-3beta-ol

2-Phenylhydracrylic acid 3-alpha-tropanyl ester

51-55-8

8-Methyl-8-azabicyclo[3.2.1]oct-3-yl 3-hydroxy-2-phenylpropanoate

8-Methyl-8-azabicyclo[3.2.1]oct-3-yl 3-hydroxy-2-phenylpropanoic acid

8-Methyl-8-azabicyclo[3.2.1]oct-3-yl tropate

8-Methyl-8-azabicyclo[3.2.1]oct-3-yl tropic acid

8-Methyl-8-azabicyclo[3.2.1]octan-3-yl 3-hydroxy-2-phenylpropionate

A0132_SIGMA

A2468_SIGMA

AC1L5AX3

AC1Q3XL2

ACon1_000046

AI3-60219

AKOS005137976

Ambap120-29-6

Anaspaz

Atropair

Atropen

Atropen (TN)

Atropin

Atropin [German]

Atropina

Atropina [Italian]

a-Tropine

Atropine

ATROPINE

Atropine (USP)

Atropine [BAN]

Atropine Care

Atropine sulfate

Atropine Sulfate S.O.P.

Atropin-flexiolen

atropinium cation

atropinium(1+)

Atropinol

Atropinum

Atropt

Atrosulf

b eta-(Hydroxymethyl)benzeneacetic acid 8-methyl-8-azabicyclo[3.2.1]oct-3-yl ester

Belladenal

Bellergal-S

Benzeneacetic acid, alpha-(hydroxymethyl)-, (3-endo)-8-methyl-8-azabicyclo(3.2.1)oct-3-yl ester

beta-Phenyl-gamma-oxypropionsaeure-tropyl-ester [German]

beta-Phenyl-gamma-oxypropionsaure-tropyl-ester [German]

bmse000649

BRD-A27290375-001-01-8

C01479

C17H23NO3

CAS-120-29-6

CCRIS 3080

CHEBI:15742

CHEBI:15884

CHEBI:16684

CHEBI:537621

CHEBI:57858

CHEMBL1235490

CID174174

CPD001906768

Cytospaz

D00113

d1-hyoscyamine

DB00572

DB04026

dl-Hyoscyamine

DL-Hyoscyamine

DL-Tropanyl 2-hydroxy-1-phenylpropionate

DL-Tropyl tropate

dl-tropyltropate

dl-Tropyltropate

DL-Tropyltropate

DL-Tropyltropic acid

EINECS 200-104-8

endo-(+/-)-alpha-(Hydroxymethyl)benzeneacetic acid 8-methyl-8-azabicyclo[3.2.1]oct-3-yl ester

endo-8-methyl-8-azabicyclo[3.2.1]octan-3-ol

Eyesules

FT-0082634

HMS2089A16

HSDB 2199

hyoscyamine

Hyoscyamine sulfate

Isopto Atropine

Isopto-atropine

I-Tropine

LS-7203

MEGxp0_001878

Minims

Minims Atropine

MLS000069795

MLS001148094

MLS002695888

MolPort-001-742-593

MolPort-003-986-158

NCGC00016370-01

NCGC00142514-01

NCGC00142514-03

nchembio.307-comp21

Neo-Diophen

NP-010662

Ocu-Tropine

OR22908

Protamine & Atropine

SAM002554885

SMR000058248

ST057178

ST057655

T0534

TL8000018

tropan-3alpha-ol

tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate

tropan-3beta-ol

Tropanol

Tropic acid, 3-alpha-tropanyl ester

Tropic acid, ester with tropine

Tropine (+/-)-tropate

Tropine tropate

Tropine tropic acid

Tropine, tropate (ester)

Troyl tropate

Urised

Orange

Approved

Lithium carbonate

Approved

554-13-2

Valproic acid

Approved, Investigational

99-66-1

3121

Synonyms:

(N-C3H7)2chcooh

(S)-2-Propyl-4-pentanoate

(S)-2-Propyl-4-pentanoic acid

2 PP (base)

2 Propylpentanoic acid

2-N-Propyl-N-valerate

2-n-propyl-n-valeric acid

2-n-Propyl-n-valeric acid

2-N-Propyl-N-valeric acid

2-Propylpentanoate

2-PROPYL-pentanoate

2-propyl-pentanoic acid

2-Propylpentanoic acid

2-Propylpentanoic Acid

2-PROPYL-pentanoIC ACID

2-Propylvalerate

2-propylvaleric acid

2-Propylvaleric acid

2-Propylvaleric Acid

4-Heptanecarboxylate

4-heptanecarboxylic acid

4-Heptanecarboxylic acid

76584-70-8 (hydrochloride salt (2:1))

99-66-1

Abbott 44090

AC1L1F7T

AC1Q2ULA

Acetate, dipropyl

Acid, propylisopropylacetic

Acid, valproic

Acide valproique

acide valproïque

Acide valproique [INN-French]

Acido valproico

ácido valproico

Acido valproico [INN-Spanish]

acidum valproicum

Acidum valproicum

Acidum valproicum [INN-Latin]

AI3-10500

Alti-valproic

Alti-Valproic

Apo-divalproex

Apo-valproic

Apo-valproic syrup

Avugane

Baceca

BIDD:GT0858

BRN 1750447

C07185

Calcium valproate

Calcium, valproate

CHEBI:39867

CHEMBL109

CID3121

Convulex

Convulsofin

CPD000499581

D00399

DB00313

Delepsine

Depacon

Depakene

Depakene (TN)

Depakin

Depakin chrono

Depakine

Depakine chrono

Depakote

Depakote (TM)

Deproic

Di-N-propylacetate

di-n-propylacetic acid

Di-n-propylacetic acid

Di-N-propylacetic acid

Di-n-propylessigsaeure

Di-N-propylessigsaeure

Di-n-propylessigsaure

Di-N-propylessigsaure

Di-n-propylessigsäure

Di-n-propylessigsaure [German]

Dipropyl acetate

Dipropyl Acetate

Dipropylacetate

Dipropylacetic acid

Divalproex

Divalproex sodium

DivK1c_000273

DOM-divalproex

Dom-valproate

Dom-Valproic

DOM-valproic

Dom-valproic acid

DOM-valproic acid e.c.

Dom-valproic acid syrup

DPA

EINECS 202-777-3

Epiject i.v.

Epilex

Epilim

Epival

Epival er

Ergenyl

G2M-777

Gen-divalproex

HMS2089J06

HSDB 3582

I04-0211

InChI=1/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10)

KBio1_000273

KBio2_001001

KBio2_002277

KBio2_003569

KBio2_004845

KBio2_006137

KBio2_007413

KBio3_002626

KBio3_002757

KBioGR_000871

KBioGR_002277

KBioSS_001001

KBioSS_002278

Kyselina 2-propylvalerova

Kyselina 2-propylvalerova [Czech]

LS-161170

LS-2068

Magnesium valproate

Med valproic

Med Valproic

MLS001076682

MLS001335927

MLS001335928

MLS002415770

MolPort-001-791-895

Mylproin

Myproate

Myproic acid

Myproic Acid

NCGC00091149-01

NCGC00091149-02

NCGC00091149-03

NCGC00091149-04

nchembio.79-comp4

nchembio815-comp21

n-Dipropylacetic acid

N-Dipropylacetic acid

n-DPA

N-DPA

NINDS_000273

Novo-divalproex

Novo-valproic

Novo-Valproic

Novo-valproic - ecc

Novo-valproic soft gel cap

NSC 93819

NSC93819

Nu-valproic

Nu-Valproic

P0823

P6273_SIGMA

PEAC

Penta-valproic

Penta-Valproic

PHL-Valproate

PHL-Valproic acid

PHL-Valproic acid e.c.

PMS-Divalproex

PMS-Valproate

PMS-Valproic acid

PMS-Valproic Acid

PMS-Valproic acid e.c.

Propylisopropylacetic acid

Propylvaleric acid

Ratio-valproic - ecc

S(-)-4-En-valproate

S(-)-4-En-valproic acid

S-2-N-Propyl-4-pentenoate

S-2-N-Propyl-4-pentenoic acid

SAM002564230

Sandoz valproic

Savicol

SBB065764

Semisodium valproate

Semisodium Valproate

SMR000499581

Sodium hydrogen divalproate

Sodium valproate

Sodium, divalproex

Sodium, valproate

SPBio_000912

Spectrum_000521

Spectrum2_000946

Spectrum3_001733

Spectrum4_000376

Sprinkle

Stavzor

UNII-614OI1Z5WI

Valcote

Valparin

valproate

Valproate

Valproate calcium

Valproate semisodique [French]

Valproate semisodium

Valproate sodium

Valproate, calcium

Valproate, magnesium

Valproate, semisodium

Valproate, sodium

Valproato semisodico [Spanish]

Valproatum seminatricum [Latin]

valproic acid

Valproic acid

VALPROIC ACID

Valproic acid (USP)

Valproic acid [USAN:INN:BAN]

Valproic acid usp

Valproic acid USP

Valproic acid USP24

Valproic acid, sodium salt (2:1)

Valproic Acid, Sodium Salt (2:1)

Valproinsaeure

Valproinsäure

VPA

Vupral

WLN: QVY3 & 3

Immunosuppressive Agents

Immunologic Factors

Calcineurin Inhibitors

Ophthalmic Solutions

Antidepressive Agents

Interventional clinical trials:

(show all 21)

#	Name	Status	NCT ID	Phase	Drugs
1	Multinational, Multicentre, Prospective, Open-label, Uncontrolled Clinical Trial to Assess the Efficacy and Safety of Autologous Cultivated Limbal Stem Cells Transplantation (ACLSCT) for Restoration of Corneal Epithelium in Patients With Limbal Stem Cell Deficiency Due to Ocular Burns (HOLOCORE)	Active, not recruiting	NCT02577861	Phase 4
2	BHV3500-201: Phase II/III: Double-Blind, Randomized, Placebo Controlled, Dose-Ranging Trial of BHV-3500 for the Acute Treatment of Migraine	Completed	NCT03872453	Phase 2, Phase 3	BHV3500 (zavegepant) 10mg;BHV3500 (zavegepant) 20mg;BHV3500 (zavegepant) 5mg;BHV3500 (zavegepant) matching placebo
3	An Efficacy Study of a Single Dose Treatment of PRO-513 for Subjects Suffering a Migraine Attack	Completed	NCT00330850	Phase 3	PRO-513
4	Intranasal Lidocaine to Treat Pediatric Migraine in the Emergency Department	Recruiting	NCT03576820	Phase 3	Lidocaine;Placebo
5	A Phase 2/3, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of Rimegepant in Migraine Prevention	Active, not recruiting	NCT03732638	Phase 2, Phase 3	Rimegepant;Placebo
6	Side Effects of Atropine (SEA) Study	Completed	NCT03593044	Phase 1, Phase 2	0.01% concentration atropine drops
7	Modification of Cortical Activation After Luminous Stimulation in Functional Magnetic Resonance Imaging (MRI) in Patients With Photophobia Related to Moderate to Acute Dry Eye Syndrome.	Unknown status	NCT03464357
8	The Head Injury-associated Photosensitivity and Pupillary Function (HIPP) Study	Completed	NCT01942564
9	An Evaluation of Converting Elderly Kidney Transplant Recipients From Tacrolimus to Envarsus to Limit Neurological Adverse Events and Improve Quality of Life	Completed	NCT03263052		Tacrolimus XR (Envarsus)
10	"Eye Protection After Mydriatic Use for ROP Screening: Impact on Vitals Signs and Pain Scores"	Completed	NCT01860534
11	Thin Film Spectacle Coatings to Reduce Light Sensitivity and Headaches in Patients With Migraine.	Completed	NCT01828684
12	Use of Facial Feature to Objectively Diagnose and Monitor Treatment of Light Sensitivity	Recruiting	NCT03694626
13	Atropine 0.01% Eyedrops for Evolutive Myopia Treatment in Children. MYOPSTOP	Recruiting	NCT04252989
14	Light at Night Study	Recruiting	NCT04251234
15	Mindfulness Based Cognitive Therapy Modified for Visual Symptoms: MBCT-vision	Recruiting	NCT04184726
16	Clinical Evaluation of Morcher Artificial Iris Diaphragms to Treat Light and Glare Sensitivity in Partial or Complete Aniridia	Active, not recruiting	NCT00812708
17	Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Active, not recruiting	NCT02837523
18	Allodynia and Sensorial Hypersensitivity in Patients With Migraine: Validation of a Specific Questionnaire	Not yet recruiting	NCT04580641
19	Spectacle Tints and Thin-Films to Reduce Headache Frequency in Patients With Chronic Migraine	Terminated	NCT02720211
20	Thin Film Spectacle Coatings to Reduce Light Sensitivity and Headaches in Child and Adolescent Patients With Migraine	Terminated	NCT01942486
21	Effects of Vertical Prism on the Symptoms of Dizziness, Headache and Anxiety as Caused by Vertical Heterophoria: A Randomized, Double-blinded, Placebo-controlled, Cross-over Study	Terminated	NCT00785135

Search NIH Clinical Center for Ifap Syndrome 1, with or Without Bresheck Syndrome

Cochrane evidence based reviews: photophobia

Sources

Genetic Tests for Ifap Syndrome 1, with or Without Bresheck Syndrome

Genetic tests related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

#	Genetic test	Affiliating Genes
1	Ifap Syndrome with or Without Bresheck Syndrome ²⁹	MBTPS2

Sources

Anatomical Context for Ifap Syndrome 1, with or Without Bresheck Syndrome

MalaCards organs/tissues related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

⁴⁰

Brain, Eye, Kidney, Bone

Sources

Publications for Ifap Syndrome 1, with or Without Bresheck Syndrome

Articles related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

(show all 17)

#	Title	Authors	PMID	Year
1	Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. ⁵⁷ ⁶	Wang HJ...Yang Y	24313295	2014
2	MBTPS2 mutation causes BRESEK/BRESHECK syndrome. ⁵⁷ ⁶	Naiki M...Wakamatsu N	22105905	2012
3	Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. ⁵⁷ ⁶	Oeffner F...Grzeschik KH	21426410	2011
4	IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. ⁵⁷ ⁶	Oeffner F...Grzeschik KH	19361614	2009
5	Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? ⁶ ⁵⁷	Boente MC...Asial RA	10694306	2000
6	Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. ⁵⁷	Megarbane H...Megarbane A	21600032	2011
7	Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. ⁵⁷	Megarbane H...Megarbane A	14708109	2004
8	What is IFAP syndrome? ⁵⁷	Happle R	14708110	2004
9	Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. ⁵⁷	Cambiaghi S...Tadini G	12004300	2002
10	Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). ⁵⁷	Konig A...Happle R	10398262	1999
11	Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. ⁵⁷	Keyvani K...Pfeiffer RA	9714442	1998
12	Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome? ⁵⁷	Reish O...Berry SA	9021007	1997
13	Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. ⁵⁷	Martino F...Giardini O	1456297	1992
14	Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. ⁵⁷	Hamm H...Traupe H	1915513	1991
15	Ichthyosis follicularis with alopecia and photophobia. ⁵⁷	Eramo LR...Herrmann J	4037843	1985
16	Ichthyosis follicularis. ⁵⁷	ZELIGMAN I...FLEISHER TL	13847228	1959
17	Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. ⁶¹	Bornholdt D...Grzeschik KH	23316014	2013

Sources

Genes for Ifap Syndrome 1, with or Without Bresheck Syndrome

Genes related to Ifap Syndrome 1, with or Without Bresheck Syndrome (3 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MBTPS2	Membrane Bound Transcription Factor Peptidase, Site 2	Protein Coding	1659.73	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵	19361614
2	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	404.77	Pathogenic ⁶ DISEASES inferred ¹⁵
3	GJB2	Gap Junction Protein Beta 2	Protein Coding	400	Pathogenic ⁶
4	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	25	Likely pathogenic ⁶
5	TRPV3	Transient Receptor Potential Cation Channel Subfamily V Member 3	Protein Coding	6.26	DISEASES inferred ¹⁵
6	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	6.12	DISEASES inferred ¹⁵
7	MPLKIP	M-Phase Specific PLK1 Interacting Protein	Protein Coding	5.98	DISEASES inferred ¹⁵
8	GTF2H5	General Transcription Factor IIH Subunit 5	Protein Coding	5.73	DISEASES inferred ¹⁵
9	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	5.2	DISEASES inferred ¹⁵
10	SPINK5	Serine Peptidase Inhibitor Kazal Type 5	Protein Coding	5.06	DISEASES inferred ¹⁵
11	TGM1	Transglutaminase 1	Protein Coding	5.03	DISEASES inferred ¹⁵

Sources

Variations for Ifap Syndrome 1, with or Without Bresheck Syndrome

ClinVar genetic disease variations for Ifap Syndrome 1, with or Without Bresheck Syndrome:

⁶ (show all 14)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MBTPS2	NM_015884.4(MBTPS2):c.680A>T (p.His227Leu)	SNV	Pathogenic	11402	rs122468176	X:21886594-21886594	X:21868476-21868476
2	MBTPS2	NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile)	SNV	Pathogenic	11403	rs122468177	X:21863325-21863325	X:21845207-21845207
3	MBTPS2	NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser)	SNV	Pathogenic	11405	rs122468179	X:21900637-21900637	X:21882519-21882519
4	MBTPS2	NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu)	SNV	Pathogenic	11406	rs122468180	X:21886591-21886591	X:21868473-21868473
5	MBTPS2	NM_015884.4(MBTPS2):c.671-9T>G	SNV	Pathogenic	126904	rs587777305	X:21886576-21886576	X:21868458-21868458
6	GJB2	NM_004004.6(GJB2):c.526A>G (p.Asn176Asp)	SNV	Pathogenic	590275	rs781767722	13:20763195-20763195	13:20189056-20189056
7	SREBF1	NM_001005291.3(SREBF1):c.1669C>T (p.Arg557Cys)	SNV	Pathogenic	932243		17:17720597-17720597	17:17817283-17817283
8	SREBF1	NM_001005291.3(SREBF1):c.1672_1674del (p.Asn558del)	Deletion	Pathogenic	932244		17:17720592-17720594	17:17817278-17817280
9	SREBF1	NM_001005291.3(SREBF1):c.1679T>C (p.Leu560Pro)	SNV	Pathogenic	932245		17:17720587-17720587	17:17817273-17817273
10	MBTPS2	NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His)	SNV	Pathogenic	11404	rs122468178	X:21899039-21899039	X:21880921-21880921
11	CNGA3	NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	SNV	Likely pathogenic	9481	rs104893620	2:99012462-99012462	2:98395999-98395999
12	MBTPS2	NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu)	SNV	Uncertain significance	522925	rs766760741	X:21869717-21869717	X:21851599-21851599
13	MBTPS2	NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)	SNV	Uncertain significance	931186		X:21861331-21861331	X:21843213-21843213
14	MBTPS2	NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val)	SNV	Uncertain significance	931207		X:21900733-21900733	X:21882615-21882615

UniProtKB/Swiss-Prot genetic disease variations for Ifap Syndrome 1, with or Without Bresheck Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MBTPS2	p.Met87Ile	VAR_063054	rs122468177
2	MBTPS2	p.Trp226Leu	VAR_063055	rs122468180
3	MBTPS2	p.His227Leu	VAR_063056	rs122468176
4	MBTPS2	p.Arg429His	VAR_063057	rs122468178
5	MBTPS2	p.Phe475Ser	VAR_063058	rs122468179

Sources

Expression for Ifap Syndrome 1, with or Without Bresheck Syndrome

Search GEO for disease gene expression data for Ifap Syndrome 1, with or Without Bresheck Syndrome.

Sources

Pathways for Ifap Syndrome 1, with or Without Bresheck Syndrome

Pathways related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Protein processing in endoplasmic reticulum	hsa04141

Pathways related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chks in Checkpoint Regulation ⁶³ Show member pathways DNA Repair Mechanisms ⁶³ Estrogen-mediated S-Phase Entry ⁶³ G2-M Phase Transition ⁶³ Parkinson's Disease Pathway ⁶³ SREBP Proteolysis ⁶³	12.06	SREBF1 MBTPS2 MBTPS1 ERCC3
2	Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁵ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁵	11.12	SREBF1 MBTPS2 MBTPS1
3	Sterol Regulatory Element-Binding Proteins (SREBP) signalling ¹	10.66	SREBF1 MBTPS2 MBTPS1

Sources

GO Terms for Ifap Syndrome 1, with or Without Bresheck Syndrome

Cellular components related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription factor TFIID complex	GO:0005669	9.16	GTF2H5 ERCC3
2	transcription factor TFIIH holo complex	GO:0005675	8.96	GTF2H5 ERCC3
3	transcription factor TFIIH core complex	GO:0000439	8.62	GTF2H5 ERCC3

Biological processes related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum unfolded protein response	GO:0030968	9.61	MBTPS2 MBTPS1
2	response to retinoic acid	GO:0032526	9.6	SREBF1 GJB2
3	response to cAMP	GO:0051591	9.59	SREBF1 CNGA3
4	nucleotide-excision repair	GO:0006289	9.58	GTF2H5 ERCC3
5	response to progesterone	GO:0032570	9.58	SREBF1 GJB2
6	nucleotide-excision repair, DNA incision	GO:0033683	9.57	GTF2H5 ERCC3
7	nucleotide-excision repair, DNA incision, 5'-to lesion	GO:0006296	9.56	GTF2H5 ERCC3
8	transcription initiation from RNA polymerase I promoter	GO:0006361	9.55	GTF2H5 ERCC3
9	7-methylguanosine mRNA capping	GO:0006370	9.54	GTF2H5 ERCC3
10	termination of RNA polymerase I transcription	GO:0006363	9.52	GTF2H5 ERCC3
11	transcription elongation from RNA polymerase I promoter	GO:0006362	9.51	GTF2H5 ERCC3
12	steroid metabolic process	GO:0008202	9.5	SREBF1 MBTPS2 MBTPS1
13	nucleotide-excision repair, preincision complex assembly	GO:0006294	9.49	GTF2H5 ERCC3
14	global genome nucleotide-excision repair	GO:0070911	9.48	GTF2H5 ERCC3
15	nucleotide-excision repair, DNA duplex unwinding	GO:0000717	9.46	GTF2H5 ERCC3
16	membrane protein intracellular domain proteolysis	GO:0031293	9.43	MBTPS2 MBTPS1
17	cholesterol metabolic process	GO:0008203	9.43	SREBF1 MBTPS2 MBTPS1
18	nucleotide-excision repair, DNA incision, 3'-to lesion	GO:0006295	9.4	GTF2H5 ERCC3
19	nucleotide-excision repair, preincision complex stabilization	GO:0006293	9.37	GTF2H5 ERCC3
20	ATF6-mediated unfolded protein response	GO:0036500	9.16	MBTPS2 MBTPS1
21	hair cell differentiation	GO:0035315	8.96	SPINK5 ERCC3
22	regulation of cholesterol biosynthetic process	GO:0045540	8.8	SREBF1 MBTPS2 MBTPS1

Sources

Sources for Ifap Syndrome 1, with or Without Bresheck Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Ifap Syndrome 1, with or Without Bresheck Syndrome (IFAP1)

Aliases & Classifications for Ifap Syndrome 1, with or Without Bresheck Syndrome

MalaCards integrated aliases for Ifap Syndrome 1, with or Without Bresheck Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Ifap Syndrome 1, with or Without Bresheck Syndrome

Related Diseases for Ifap Syndrome 1, with or Without Bresheck Syndrome

Diseases related to Ifap Syndrome 1, with or Without Bresheck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Symptoms & Phenotypes for Ifap Syndrome 1, with or Without Bresheck Syndrome

Human phenotypes related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

MGI Mouse Phenotypes related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Drugs & Therapeutics for Ifap Syndrome 1, with or Without Bresheck Syndrome

Drugs for Ifap Syndrome 1, with or Without Bresheck Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: photophobia

Genetic Tests for Ifap Syndrome 1, with or Without Bresheck Syndrome

Genetic tests related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Anatomical Context for Ifap Syndrome 1, with or Without Bresheck Syndrome

MalaCards organs/tissues related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Publications for Ifap Syndrome 1, with or Without Bresheck Syndrome

Articles related to Ifap Syndrome 1, with or Without Bresheck Syndrome:

Genes for Ifap Syndrome 1, with or Without Bresheck Syndrome

Genes related to Ifap Syndrome 1, with or Without Bresheck Syndrome (3 elite genes):

Variations for Ifap Syndrome 1, with or Without Bresheck Syndrome

ClinVar genetic disease variations for Ifap Syndrome 1, with or Without Bresheck Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Ifap Syndrome 1, with or Without Bresheck Syndrome:

Expression for Ifap Syndrome 1, with or Without Bresheck Syndrome

Pathways for Ifap Syndrome 1, with or Without Bresheck Syndrome

Pathways related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to KEGG:

Pathways related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

GO Terms for Ifap Syndrome 1, with or Without Bresheck Syndrome

Cellular components related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Ifap Syndrome 1, with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

Sources for Ifap Syndrome 1, with or Without Bresheck Syndrome