IFAP2
MCID: IFP003
MIFTS: 16

Ifap Syndrome 2 (IFAP2)

Categories: Genetic diseases

Aliases & Classifications for Ifap Syndrome 2

MalaCards integrated aliases for Ifap Syndrome 2:

Name: Ifap Syndrome 2 57 6
Ichthyosis, Follicular, with Atrichia and Photophobia Syndrome 2 57
Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 57
Ifap2 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth


HPO:

31
ifap syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ifap Syndrome 2

OMIM® : 57 Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020). For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205). (619016) (Updated 05-Mar-2021)

MalaCards based summary : Ifap Syndrome 2, is also known as ichthyosis, follicular, with atrichia and photophobia syndrome 2. An important gene associated with Ifap Syndrome 2 is SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1). Related phenotypes are cataract and photophobia

Related Diseases for Ifap Syndrome 2

Symptoms & Phenotypes for Ifap Syndrome 2

Human phenotypes related to Ifap Syndrome 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 31 very rare (1%) HP:0000518
2 photophobia 31 very rare (1%) HP:0000613
3 strabismus 31 very rare (1%) HP:0000486
4 keratoconjunctivitis sicca 31 very rare (1%) HP:0001097
5 sparse hair 31 very rare (1%) HP:0008070
6 nail dystrophy 31 very rare (1%) HP:0008404
7 atrichia 31 very rare (1%) HP:0500262
8 angular cheilitis 31 very rare (1%) HP:0030318
9 posterior blepharitis 31 very rare (1%) HP:0025610
10 perioral erythema 31 very rare (1%) HP:0033194
11 ichthyosis follicularis 31 very rare (1%) HP:0031291

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
cataract
photophobia
meibomian gland dysfunction
punctate corneal epithelial defects
corneal pannus

Skin Nails Hair Hair:
trichorrhexis nodosa
sparse hair (over entire body)
absent hair (over entire body)
variation in caliber of hair
warping of hair cuticle
more
Skin Nails Hair Skin Histology:
acanthosis
orthohyperkeratosis
dilated infundibulum with keratotic plug
perivascular lymphocytic infiltrate in superficial dermis.

Skin Nails Hair Skin:
follicular hyperkeratosis
ichthyosis follicularis
hyperkeratotic plaques

Head And Neck Mouth:
angular cheilitis

Skin Nails Hair Nails:
dystrophic nails

Clinical features from OMIM®:

619016 (Updated 05-Mar-2021)

Drugs & Therapeutics for Ifap Syndrome 2

Search Clinical Trials , NIH Clinical Center for Ifap Syndrome 2

Genetic Tests for Ifap Syndrome 2

Anatomical Context for Ifap Syndrome 2

Publications for Ifap Syndrome 2

Articles related to Ifap Syndrome 2:

# Title Authors PMID Year
1
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. 57 6
32497488 2020

Variations for Ifap Syndrome 2

ClinVar genetic disease variations for Ifap Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SREBF1 NM_001005291.3(SREBF1):c.1669C>T (p.Arg557Cys) SNV Pathogenic 932243 17:17720597-17720597 17:17817283-17817283
2 SREBF1 NM_001005291.3(SREBF1):c.1672_1674del (p.Asn558del) Deletion Pathogenic 932244 17:17720592-17720594 17:17817278-17817280
3 SREBF1 NM_001005291.3(SREBF1):c.1679T>C (p.Leu560Pro) SNV Pathogenic 932245 17:17720587-17720587 17:17817273-17817273

Expression for Ifap Syndrome 2

Search GEO for disease gene expression data for Ifap Syndrome 2.

Pathways for Ifap Syndrome 2

GO Terms for Ifap Syndrome 2

Sources for Ifap Syndrome 2

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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