BIS
MCID: BLP051
MIFTS: 21

Blepharophimosis-Impaired Intellectual Development Syndrome (BIS)

Categories: Genetic diseases

Aliases & Classifications for Blepharophimosis-Impaired Intellectual Development Syndrome

MalaCards integrated aliases for Blepharophimosis-Impaired Intellectual Development Syndrome:

Name: Blepharophimosis-Impaired Intellectual Development Syndrome 57
Bis 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset at birth
variable features and severity


Classifications:



External Ids:

OMIM® 57 619293

Summaries for Blepharophimosis-Impaired Intellectual Development Syndrome

OMIM® : 57 Blepharophimosis-impaired intellectual development syndrome (BIS) is a congenital disorder characterized by a distinct facial appearance with blepharophimosis and global development delay. Affected individuals have delayed motor skills, sometimes with inability to walk, and impaired intellectual development with poor or absent speech; some patients show behavioral abnormalities. There are recognizable facial features, including epicanthal folds, sparse eyebrows, broad nasal bridge, short nose with downturned tip, and open mouth with thin upper lip. Other more variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity (summary by Cappuccio et al., 2020). (619293) (Updated 20-May-2021)

MalaCards based summary : Blepharophimosis-Impaired Intellectual Development Syndrome, also known as bis, is related to hair whorl and dentinogenesis imperfecta type 2. An important gene associated with Blepharophimosis-Impaired Intellectual Development Syndrome is SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2). Affiliated tissues include bone, brain and breast.

Related Diseases for Blepharophimosis-Impaired Intellectual Development Syndrome

Diseases related to Blepharophimosis-Impaired Intellectual Development Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 697)
# Related Disease Score Top Affiliating Genes
1 hair whorl 10.8
2 dentinogenesis imperfecta type 2 10.6
3 pulmonary hypertension, primary, 3 10.6
4 rapidly involuting congenital hemangioma 10.5
5 glial tumor 10.5
6 glioma 10.4
7 pulmonary hypertension, primary, 2 10.4
8 glioblastoma 10.4
9 hypoxia 10.3
10 breast adenocarcinoma 10.3
11 pachyonychia congenita 3 10.3
12 human immunodeficiency virus type 1 10.3
13 helix syndrome 10.3
14 contact dermatitis 10.3
15 48,xyyy 10.3
16 lung cancer susceptibility 3 10.3
17 osteogenic sarcoma 10.3
18 creatinine clearance quantitative trait locus 10.3
19 colon adenocarcinoma 10.3
20 herpes simplex 10.3
21 anaplastic large cell lymphoma 10.2
22 triiodothyronine receptor auxiliary protein 10.2
23 neuroblastoma 10.2
24 pancreatic cancer 10.2
25 allergic contact dermatitis 10.2
26 high grade glioma 10.2
27 adenoma 10.2
28 lymphosarcoma 10.2
29 coronary ostial stenosis or atresia 10.2
30 trypanosomiasis 10.2
31 breast cancer 10.2
32 middle east respiratory syndrome 10.2
33 vaccinia 10.2
34 glioma susceptibility 1 10.2
35 hand skill, relative 10.2
36 immune deficiency disease 10.2
37 acute erythroid leukemia 10.2
38 sleeping sickness 10.2
39 fibrosarcoma 10.2
40 stomatitis 10.2
41 lung cancer 10.1
42 melanoma 10.1
43 malignant astrocytoma 10.1
44 pulmonary fibrosis 10.1
45 alzheimer disease 10.1
46 kala-azar 1 10.1
47 carcinosarcoma 10.1
48 leishmaniasis 10.1
49 reticulum cell sarcoma 10.1
50 sarcoma 10.1

Graphical network of the top 20 diseases related to Blepharophimosis-Impaired Intellectual Development Syndrome:



Diseases related to Blepharophimosis-Impaired Intellectual Development Syndrome

Symptoms & Phenotypes for Blepharophimosis-Impaired Intellectual Development Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
long philtrum
short philtrum
dysmorphic facial features
broad flat face
more
Head And Neck Eyes:
hypertelorism
myopia
blepharophimosis
astigmatism
sparse eyelashes
more
Head And Neck Nose:
short nose
broad nasal bridge
hypoplastic alae nasi
small nostrils
pinched nose
more
Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
open mouth
drooling
tented upper lip

Neurologic Behavioral Psychiatric Manifestations:
low frustration tolerance
behavioral abnormalities
autistic features
adhd
stereotypies

Skeletal Limbs:
joint contractures

Growth Other:
poor overall growth

Respiratory:
respiratory infections

Neurologic Central Nervous System:
global developmental delay
inability to walk
hypotonia
seizures (in some patients)
delayed walking
more
Head And Neck Teeth:
widely spaced teeth
enamel defects

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Ears:
low-set ears
abnormal ears
creased earlobes

Skin Nails Hair Hair:
sparse scalp hair

Skeletal Hands:
clinodactyly
thin tapered fingers

Skeletal Feet:
foot deformities

Head And Neck Head:
microcephaly (in some patients)

Genitourinary External Genitalia Female:
hypoplastic labia (1 patient)

Clinical features from OMIM®:

619293 (Updated 20-May-2021)

Drugs & Therapeutics for Blepharophimosis-Impaired Intellectual Development Syndrome

Search Clinical Trials , NIH Clinical Center for Blepharophimosis-Impaired Intellectual Development Syndrome

Genetic Tests for Blepharophimosis-Impaired Intellectual Development Syndrome

Anatomical Context for Blepharophimosis-Impaired Intellectual Development Syndrome

MalaCards organs/tissues related to Blepharophimosis-Impaired Intellectual Development Syndrome:

40
Bone, Brain, Breast, Liver, Lung, Thyroid, Skin

Publications for Blepharophimosis-Impaired Intellectual Development Syndrome

Articles related to Blepharophimosis-Impaired Intellectual Development Syndrome:

# Title Authors PMID Year
1
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. 57
32694869 2020

Variations for Blepharophimosis-Impaired Intellectual Development Syndrome

Expression for Blepharophimosis-Impaired Intellectual Development Syndrome

Search GEO for disease gene expression data for Blepharophimosis-Impaired Intellectual Development Syndrome.

Pathways for Blepharophimosis-Impaired Intellectual Development Syndrome

GO Terms for Blepharophimosis-Impaired Intellectual Development Syndrome

Sources for Blepharophimosis-Impaired Intellectual Development 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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