MCID: IFP001
MIFTS: 37

Ifap Syndrome with or Without Bresheck Syndrome

Categories: Genetic diseases, Neuronal diseases, Skin diseases, Fetal diseases, Rare diseases, Bone diseases, Ear diseases

Aliases & Classifications for Ifap Syndrome with or Without Bresheck Syndrome

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

Name: Ifap Syndrome with or Without Bresheck Syndrome 57 75 29 13 6 40
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 75
Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 59 75
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, and Kidney Dysplasia-Hypoplasia 73
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome 37
Ichthyosis Follicularis Atrichia Photophobia Syndrome 73
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 59
Bresheck Syndrome 59
Bresek Syndrome 59
Ifap Syndrome 59
Photophobia 44
Ifaps 75

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
onset at birth
highly variable severity

Inheritance:
x-linked recessive


HPO:

32
ifap syndrome with or without bresheck syndrome:
Mortality/Aging neonatal death
Onset and clinical course variable expressivity congenital onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 308205
MESH via Orphanet 45 C536085
UMLS via Orphanet 74 C1839988 C3502469
ICD10 via Orphanet 34 Q87.8
KEGG 37 H00740

Summaries for Ifap Syndrome with or Without Bresheck Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Ifap Syndrome with or Without Bresheck Syndrome, also known as 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, is related to ichthyosis follicularis atrichia photophobia syndrome and ichthyosis, and has symptoms including seizures and photophobia. An important gene associated with Ifap Syndrome with or Without Bresheck Syndrome is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include kidney, brain and eye, and related phenotypes are low-set ears and agenesis of corpus callosum

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)

Wikipedia : 76 IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis,... more...

Related Diseases for Ifap Syndrome with or Without Bresheck Syndrome

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

# Related Disease Score Top Affiliating Genes
1 ichthyosis follicularis atrichia photophobia syndrome 11.3
2 ichthyosis 10.3
3 alopecia 10.2
4 palmoplantar keratosis 10.0
5 syringomyelia 9.9
6 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 9.9
7 rickets 9.9
8 dermotrichic syndrome 9.9

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



Diseases related to Ifap Syndrome with or Without Bresheck Syndrome

Symptoms & Phenotypes for Ifap Syndrome with or Without Bresheck Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
brain atrophy
seizures
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

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
unilateral renal agenesis
multicystic kidneys
dysplastic kidneys

Skin Nails Hair Nails:
dystrophic nails

Skeletal Hands:
postaxial polydactyly (rare)

Head And Neck Mouth:
cleft palate (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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

Growth Other:
growth retardation

Chest Ribs Sternum Clavicles And Scapulae:
rib anomalies

Head And Neck Ears:
hearing loss (variable)

Chest External Features:
unilateral chest hypoplasia

Skeletal Pelvis:
hip dislocation (rare)

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


Clinical features from OMIM:

308205

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

59 32 (show top 50) (show all 124)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
10 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
11 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
12 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
13 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
14 hearing impairment 59 32 occasional (7.5%) Frequent (79-30%) HP:0000365
15 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
16 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
17 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
18 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
19 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
20 abnormal vertebral morphology 59 32 Occasional (29-5%) HP:0003468
21 microcephaly 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000252
22 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0008064
23 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
24 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
25 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
26 cleft palate 59 32 occasional (7.5%) Frequent (79-30%) HP:0000175
27 hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000962
28 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
29 platyspondyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000926
30 corneal erosion 59 32 frequent (33%) Frequent (79-30%) HP:0200020
31 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000028
32 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
33 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
34 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
35 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
36 alopecia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001596
37 hyperconvex fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001812
38 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
39 abnormality of the eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000499
40 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002251
41 optic nerve hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000609
42 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
43 keratitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000491
44 blepharitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000498
45 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
46 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
47 thin fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0012742
48 dementia 59 32 frequent (33%) Frequent (79-30%) HP:0000726
49 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
50 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076

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


seizures, photophobia

GenomeRNAi Phenotypes related to Ifap Syndrome with or Without Bresheck Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased ionizing radiation sensitivity GR00232-A-1 8.62 CNGA3 MBTPS2

Drugs & Therapeutics for Ifap Syndrome with or Without Bresheck Syndrome

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

Cochrane evidence based reviews: photophobia

Genetic Tests for Ifap Syndrome with or Without Bresheck Syndrome

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

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

Anatomical Context for Ifap Syndrome with or Without Bresheck Syndrome

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

41
Kidney, Brain, Eye, Skin, Bone, Temporal Lobe

Publications for Ifap Syndrome with or Without Bresheck Syndrome

Articles related to Ifap Syndrome with or Without Bresheck Syndrome:

# Title Authors Year
1
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome. ( 28839390 )
2017
2
Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome. ( 23551428 )
2013

Variations for Ifap Syndrome with or Without Bresheck Syndrome

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

75
# 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

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
2 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
3 MBTPS2 NM_015884.3(MBTPS2): c.680A> T (p.His227Leu) single nucleotide variant Pathogenic rs122468176 GRCh37 Chromosome X, 21886594: 21886594
4 MBTPS2 NM_015884.3(MBTPS2): c.680A> T (p.His227Leu) single nucleotide variant Pathogenic rs122468176 GRCh38 Chromosome X, 21868476: 21868476
5 MBTPS2 NM_015884.3(MBTPS2): c.261G> A (p.Met87Ile) single nucleotide variant Pathogenic rs122468177 GRCh37 Chromosome X, 21863325: 21863325
6 MBTPS2 NM_015884.3(MBTPS2): c.261G> A (p.Met87Ile) single nucleotide variant Pathogenic rs122468177 GRCh38 Chromosome X, 21845207: 21845207
7 MBTPS2 NM_015884.3(MBTPS2): c.1286G> A (p.Arg429His) single nucleotide variant Pathogenic rs122468178 GRCh37 Chromosome X, 21899039: 21899039
8 MBTPS2 NM_015884.3(MBTPS2): c.1286G> A (p.Arg429His) single nucleotide variant Pathogenic rs122468178 GRCh38 Chromosome X, 21880921: 21880921
9 MBTPS2 NM_015884.3(MBTPS2): c.1424T> C (p.Phe475Ser) single nucleotide variant Pathogenic rs122468179 GRCh37 Chromosome X, 21900637: 21900637
10 MBTPS2 NM_015884.3(MBTPS2): c.1424T> C (p.Phe475Ser) single nucleotide variant Pathogenic rs122468179 GRCh38 Chromosome X, 21882519: 21882519
11 MBTPS2 NM_015884.3(MBTPS2): c.677G> T (p.Trp226Leu) single nucleotide variant Pathogenic rs122468180 GRCh37 Chromosome X, 21886591: 21886591
12 MBTPS2 NM_015884.3(MBTPS2): c.677G> T (p.Trp226Leu) single nucleotide variant Pathogenic rs122468180 GRCh38 Chromosome X, 21868473: 21868473
13 MBTPS2 NM_015884.3(MBTPS2): c.671-9T> G single nucleotide variant Pathogenic rs587777305 GRCh37 Chromosome X, 21886576: 21886576
14 MBTPS2 NM_015884.3(MBTPS2): c.671-9T> G single nucleotide variant Pathogenic rs587777305 GRCh38 Chromosome X, 21868458: 21868458
15 MBTPS2 NM_015884.3(MBTPS2): c.529A> C (p.Ile177Leu) single nucleotide variant Uncertain significance rs766760741 GRCh38 Chromosome X, 21851599: 21851599
16 MBTPS2 NM_015884.3(MBTPS2): c.529A> C (p.Ile177Leu) single nucleotide variant Uncertain significance rs766760741 GRCh37 Chromosome X, 21869717: 21869717

Expression for Ifap Syndrome with or Without Bresheck Syndrome

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

Pathways for Ifap Syndrome with or Without Bresheck Syndrome

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

37
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Ifap Syndrome with or Without Bresheck Syndrome

Sources for Ifap Syndrome with or Without Bresheck Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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