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

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:

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 via Orphanet 45 C536085
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1839988 C3502469
UMLS 71 C1839988

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.

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:



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:

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

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
1
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
2
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
3 Anti-Inflammatory Agents Phase 3
4 Analgesics, Non-Narcotic Phase 3
5 Anti-Inflammatory Agents, Non-Steroidal Phase 3
6 Analgesics Phase 3
7 Antirheumatic Agents Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Anesthetics Phase 3
10 Anti-Arrhythmia Agents Phase 3
11 Sodium Channel Blockers Phase 3
12 Diuretics, Potassium Sparing Phase 3
13 Anesthetics, Local Phase 3
14 Pharmaceutical Solutions Phase 3
15 Parasympatholytics Phase 1, Phase 2
16 Respiratory System Agents Phase 1, Phase 2
17 Anti-Asthmatic Agents Phase 1, Phase 2
18 Cholinergic Antagonists Phase 1, Phase 2
19 Neurotransmitter Agents Phase 1, Phase 2
20 Mydriatics Phase 1, Phase 2
21 Muscarinic Antagonists Phase 1, Phase 2
22 Bronchodilator Agents Phase 1, Phase 2
23 Cholinergic Agents Phase 1, Phase 2
24
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
25
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
26 Orange Approved
27
Lithium carbonate Approved 554-13-2
28
Valproic acid Approved, Investigational 99-66-1 3121
29 Immunosuppressive Agents
30 Immunologic Factors
31 Calcineurin Inhibitors
32 Ophthalmic Solutions
33 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

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

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

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
24313295 2014
2
MBTPS2 mutation causes BRESEK/BRESHECK syndrome. 57 6
22105905 2012
3
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. 57 6
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
19361614 2009
5
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? 6 57
10694306 2000
6
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. 57
21600032 2011
7
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. 57
14708109 2004
8
What is IFAP syndrome? 57
14708110 2004
9
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. 57
12004300 2002
10
Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). 57
10398262 1999
11
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. 57
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
9021007 1997
13
Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. 57
1456297 1992
14
Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. 57
1915513 1991
15
Ichthyosis follicularis with alopecia and photophobia. 57
4037843 1985
16
Ichthyosis follicularis. 57
13847228 1959
17
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 61
23316014 2013

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

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.

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
Show member pathways
12.06 SREBF1 MBTPS2 MBTPS1 ERCC3
2
Show member pathways
11.12 SREBF1 MBTPS2 MBTPS1
3 10.66 SREBF1 MBTPS2 MBTPS1

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 for Ifap Syndrome 1, with or Without Bresheck Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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