IFAP1
MCID: IFP002
MIFTS: 48

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 72 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 72
Ichthyosis Follicularis Atrichia Photophobia Syndrome 44 70
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 58 15
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 58 72
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, and Kidney Dysplasia-Hypoplasia 70
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome 36
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1 12
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1 12
Ifap Syndrome 1 with or Without Bresheck Syndrome 12
Bresheck Syndrome 58
Ifap Syndrome 1 12
Bresek Syndrome 58
Ifap Syndrome 58
Ifap1 57
Ifaps 72

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-Apr-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 71 C1839988 C3502469
UMLS 70 C1839988 C3502469

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 olmsted syndrome, x-linked, 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. Affiliated tissues include brain, kidney and eye, 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-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 69)
# Related Disease Score Top Affiliating Genes
1 ichthyosis follicularis atrichia photophobia syndrome 32.8 SREBF1 MBTPS2 GJB2
2 olmsted syndrome, x-linked 30.4 TRPV3 MBTPS2
3 keratosis 30.1 TGM1 MBTPS2 GJB2
4 mutilating palmoplantar keratoderma with periorificial keratotic plaques 30.1 TRPV3 MBTPS2
5 ichthyosis 28.5 TGM1 SPINK5 MPLKIP MBTPS2 GTF2H5 GJB2
6 alopecia-contractures-dwarfism-intellectual disability syndrome 11.4
7 ifap syndrome 2 11.0
8 alopecia 10.5
9 myopia 10.3
10 lagophthalmos 10.3
11 inguinal hernia 10.2
12 ichthyosis, follicular 10.2
13 focal palmoplantar keratoderma 10.2 TRPV3 GJB2
14 keratitis, hereditary 10.1
15 erythrokeratoderma ''en cocardes'' 10.1
16 seizure disorder 10.1
17 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.1 MBTPS2 MBTPS1
18 trichothiodystrophy 4, nonphotosensitive 10.1 MPLKIP GTF2H5
19 cryptorchidism, unilateral or bilateral 10.0
20 alopecia, congenital 10.0
21 branchiootic syndrome 1 10.0
22 palmoplantar keratosis 10.0
23 rare genetic skin disease 10.0
24 xfe progeroid syndrome 10.0 GTF2H5 ERCC3
25 syringomyelia, noncommunicating isolated 9.9
26 syringomyelia 9.9
27 xeroderma pigmentosum group e 9.9 GTF2H5 ERCC3
28 x-linked chondrodysplasia punctata 2 9.9 TGM1 MBTPS2
29 ectropion 9.9 TGM1 MBTPS2
30 cleft palate, isolated 9.9
31 darier-white disease 9.9
32 hirschsprung disease 1 9.9
33 mucoepithelial dysplasia, hereditary 9.9
34 nail disorder, nonsyndromic congenital, 1 9.9
35 lymphoma, hodgkin, classic 9.9
36 dermatitis, atopic 9.9
37 keratosis follicularis spinulosa decalvans, autosomal dominant 9.9
38 olmsted syndrome 1 9.9
39 alacrima, achalasia, and mental retardation syndrome 9.9
40 chorea, childhood-onset, with psychomotor retardation 9.9
41 lymphoma 9.9
42 umbilical hernia 9.9
43 keratosis follicularis spinulosa decalvans 9.9
44 rickets 9.9
45 megacolon 9.9
46 choreatic disease 9.9
47 candidiasis 9.9
48 ectodermal dysplasia 9.9
49 keratopathy 9.9
50 retinal vascular disease 9.9

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-Apr-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-Apr-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 CLDN1 ERCC3 GJB2 MBTPS1 MPLKIP SPINK5

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

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

Cochrane evidence based reviews: ichthyosis follicularis atrichia photophobia syndrome

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, Kidney, Eye, 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. 6 57
22105905 2012
3
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. 6 57
21426410 2011
4
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. 6 57
19361614 2009
5
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. 57
21600032 2011
6
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. 57
14708109 2004
7
What is IFAP syndrome? 57
14708110 2004
8
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. 57
12004300 2002
9
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? 57
10694306 2000
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 Position
1 MBTPS2 NM_015884.4(MBTPS2):c.680A>T (p.His227Leu) SNV Pathogenic 11402 rs122468176 GRCh37: X:21886594-21886594
GRCh38: X:21868476-21868476
2 MBTPS2 NM_015884.4(MBTPS2):c.261G>A (p.Met87Ile) SNV Pathogenic 11403 rs122468177 GRCh37: X:21863325-21863325
GRCh38: X:21845207-21845207
3 MBTPS2 NM_015884.4(MBTPS2):c.1424T>C (p.Phe475Ser) SNV Pathogenic 11405 rs122468179 GRCh37: X:21900637-21900637
GRCh38: X:21882519-21882519
4 MBTPS2 NM_015884.4(MBTPS2):c.677G>T (p.Trp226Leu) SNV Pathogenic 11406 rs122468180 GRCh37: X:21886591-21886591
GRCh38: X:21868473-21868473
5 MBTPS2 NM_015884.4(MBTPS2):c.671-9T>G SNV Pathogenic 126904 rs587777305 GRCh37: X:21886576-21886576
GRCh38: X:21868458-21868458
6 SREBF1 NM_001005291.3(SREBF1):c.1669C>T (p.Arg557Cys) SNV Pathogenic 932243 GRCh37: 17:17720597-17720597
GRCh38: 17:17817283-17817283
7 SREBF1 NM_001005291.3(SREBF1):c.1672_1674del (p.Asn558del) Deletion Pathogenic 932244 GRCh37: 17:17720592-17720594
GRCh38: 17:17817278-17817280
8 SREBF1 NM_001005291.3(SREBF1):c.1679T>C (p.Leu560Pro) SNV Pathogenic 932245 GRCh37: 17:17720587-17720587
GRCh38: 17:17817273-17817273
9 MBTPS2 NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) SNV Pathogenic 11404 rs122468178 GRCh37: X:21899039-21899039
GRCh38: X:21880921-21880921
10 GJB2 NM_004004.6(GJB2):c.526A>G (p.Asn176Asp) SNV Pathogenic 590275 rs781767722 GRCh37: 13:20763195-20763195
GRCh38: 13:20189056-20189056
11 MBTPS2 NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr) SNV Uncertain significance 931186 GRCh37: X:21861331-21861331
GRCh38: X:21843213-21843213
12 MBTPS2 NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val) SNV Uncertain significance 931207 GRCh37: X:21900733-21900733
GRCh38: X:21882615-21882615
13 MBTPS2 NM_015884.4(MBTPS2):c.516A>C (p.Glu172Asp) SNV Uncertain significance 1029416 GRCh37: X:21869704-21869704
GRCh38: X:21851586-21851586
14 MBTPS2 NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) SNV Uncertain significance 522925 rs766760741 GRCh37: X:21869717-21869717
GRCh38: X:21851599-21851599

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

72
# 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 aging GO:0007568 9.67 SREBF1 GJB2 CLDN1
2 endoplasmic reticulum unfolded protein response GO:0030968 9.61 MBTPS2 MBTPS1
3 response to retinoic acid GO:0032526 9.6 SREBF1 GJB2
4 nucleotide-excision repair GO:0006289 9.59 GTF2H5 ERCC3
5 response to progesterone GO:0032570 9.58 SREBF1 GJB2
6 nucleotide-excision repair, DNA incision GO:0033683 9.58 GTF2H5 ERCC3
7 nucleotide-excision repair, DNA incision, 5'-to lesion GO:0006296 9.57 GTF2H5 ERCC3
8 transcription initiation from RNA polymerase I promoter GO:0006361 9.56 GTF2H5 ERCC3
9 7-methylguanosine mRNA capping GO:0006370 9.55 GTF2H5 ERCC3
10 termination of RNA polymerase I transcription GO:0006363 9.54 GTF2H5 ERCC3
11 transcription elongation from RNA polymerase I promoter GO:0006362 9.52 GTF2H5 ERCC3
12 nucleotide-excision repair, preincision complex assembly GO:0006294 9.51 GTF2H5 ERCC3
13 steroid metabolic process GO:0008202 9.5 SREBF1 MBTPS2 MBTPS1
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....