IDDDFP
MCID: INT310
MIFTS: 26

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Dysmorphic Facies and...

MalaCards integrated aliases for Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

Name: Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 57 72 29 6 17
Idddfp 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset at birth
de novo mutation (in most patients)


HPO:

31
intellectual developmental disorder with dysmorphic facies and ptosis:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Intellectual Developmental Disorder with Dysmorphic Facies and...

OMIM® : 57 Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017). See also chromosome 3p deletion syndrome (613792). (617333) (Updated 05-Apr-2021)

MalaCards based summary : Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis, also known as idddfp, is related to alacrima, achalasia, and mental retardation syndrome and ptosis. An important gene associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis is BRPF1 (Bromodomain And PHD Finger Containing 1). Related phenotypes are microcephaly and short stature

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with dysmorphic facies and ptosis: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and facial dysmorphisms, most notably ptosis. Additional features may include poor growth, hypotonia, and seizures.

Related Diseases for Intellectual Developmental Disorder with Dysmorphic Facies and...

Diseases related to Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 ptosis 10.3

Symptoms & Phenotypes for Intellectual Developmental Disorder with Dysmorphic Facies and...

Human phenotypes related to Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 short stature 31 occasional (7.5%) HP:0004322
3 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
4 abnormal myelination 31 occasional (7.5%) HP:0012447
5 intellectual disability 31 HP:0001249
6 ptosis 31 HP:0000508
7 global developmental delay 31 HP:0001263
8 hypertelorism 31 HP:0000316
9 wide nasal bridge 31 HP:0000431
10 delayed speech and language development 31 HP:0000750
11 strabismus 31 HP:0000486
12 flat face 31 HP:0012368
13 talipes equinovarus 31 HP:0001762
14 wide mouth 31 HP:0000154
15 downslanted palpebral fissures 31 HP:0000494
16 narrow mouth 31 HP:0000160
17 downturned corners of mouth 31 HP:0002714
18 long philtrum 31 HP:0000343
19 short philtrum 31 HP:0000322
20 broad forehead 31 HP:0000337
21 blepharophimosis 31 HP:0000581
22 round face 31 HP:0000311
23 feeding difficulties 31 HP:0011968
24 generalized hypotonia 31 HP:0001290
25 camptodactyly 31 HP:0012385
26 abnormality of the pinna 31 HP:0000377
27 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
global developmental delay
seizures (in some patients)
speech delay
delayed walking
more
Head And Neck Mouth:
wide mouth
small mouth
downturned corners of the mouth

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
club feet

Head And Neck Head:
microcephaly (in some patients)

Growth Other:
poor growth (in some patients)
intrauterine growth retardation (in some patients)

Skeletal Spine:
cervical spinal fusion (in some patients)

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
blepharophimosis
downslanting palpebral fissures

Head And Neck Face:
long philtrum
short philtrum
broad forehead
round face
flat facial profile
more
Skeletal Hands:
camptodactyly
brachymetacarpia

Head And Neck Nose:
broad nasal root
fleshy nose

Growth Height:
short stature (in some patients)

Head And Neck Ears:
abnormally shaped ears

Skeletal:
joint hypermotility

Clinical features from OMIM®:

617333 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Dysmorphic Facies and...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis

Genetic Tests for Intellectual Developmental Disorder with Dysmorphic Facies and...

Genetic tests related to Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis 29 BRPF1

Anatomical Context for Intellectual Developmental Disorder with Dysmorphic Facies and...

Publications for Intellectual Developmental Disorder with Dysmorphic Facies and...

Articles related to Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

# Title Authors PMID Year
1
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis. 6 57
27939639 2017
2
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. 57 6
27939640 2017
3
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
4
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing. 61
33157260 2021
5
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. 61
32652122 2020
6
Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis. 61
32457794 2020
7
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum. 61
31176769 2019

Variations for Intellectual Developmental Disorder with Dysmorphic Facies and...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRPF1 NM_001003694.2(BRPF1):c.1108C>T (p.Pro370Ser) SNV Pathogenic 375484 rs1057519509 GRCh37: 3:9781191-9781191
GRCh38: 3:9739507-9739507
2 BRPF1 NM_001003694.2(BRPF1):c.104dup (p.Tyr35Ter) Duplication Pathogenic 375493 rs1057519517 GRCh37: 3:9775927-9775928
GRCh38: 3:9734243-9734244
3 BRPF1 NM_001003694.2(BRPF1):c.2982C>G (p.Tyr994Ter) SNV Pathogenic 375490 rs1057519514 GRCh37: 3:9786753-9786753
GRCh38: 3:9745069-9745069
4 BRPF1 NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter) SNV Pathogenic 375488 rs1057519513 GRCh37: 3:9787588-9787588
GRCh38: 3:9745904-9745904
5 BRPF1 NM_001003694.2(BRPF1):c.1165T>C (p.Cys389Arg) SNV Pathogenic 375491 rs1057519515 GRCh37: 3:9781248-9781248
GRCh38: 3:9739564-9739564
6 BRPF1 NM_001003694.2(BRPF1):c.1050_1051TG[1] (p.Val351fs) Microsatellite Pathogenic 268185 rs886041090 GRCh37: 3:9781133-9781134
GRCh38: 3:9739449-9739450
7 BRPF1 NM_001003694.2(BRPF1):c.567del (p.Asp190fs) Deletion Pathogenic 375492 rs1057519516 GRCh37: 3:9776391-9776391
GRCh38: 3:9734707-9734707
8 BRPF1 NM_001003694.2(BRPF1):c.360_361AG[1] (p.Glu121fs) Microsatellite Pathogenic 375486 rs1057519511 GRCh37: 3:9776184-9776185
GRCh38: 3:9734500-9734501
9 BRPF1 NM_001003694.2(BRPF1):c.904C>T (p.Gln302Ter) SNV Pathogenic 559906 rs1553695017 GRCh37: 3:9780987-9780987
GRCh38: 3:9739303-9739303
10 BRPF1 NM_001003694.2(BRPF1):c.2497C>T (p.Arg833Ter) SNV Pathogenic 375487 rs1057519512 GRCh37: 3:9785447-9785447
GRCh38: 3:9743763-9743763
11 BRPF1 NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter) SNV Pathogenic 375485 rs1057519510 GRCh37: 3:9781446-9781446
GRCh38: 3:9739762-9739762
12 BRPF1 NM_001003694.2(BRPF1):c.2311+1G>A SNV Pathogenic 975191 GRCh37: 3:9784938-9784938
GRCh38: 3:9743254-9743254
13 BRPF1 NM_001003694.2(BRPF1):c.1313del (p.Val438fs) Deletion Pathogenic 975192 GRCh37: 3:9781396-9781396
GRCh38: 3:9739712-9739712
14 BRPF1 NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs) Deletion Pathogenic 810669 rs1575155995 GRCh37: 3:9781265-9781266
GRCh38: 3:9739581-9739582
15 BRPF1 NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg) SNV Likely pathogenic 975193 GRCh37: 3:9775891-9775891
GRCh38: 3:9734207-9734207
16 BRPF1 NM_001003694.2(BRPF1):c.3068+1G>T SNV Likely pathogenic 983015 GRCh37: 3:9786840-9786840
GRCh38: 3:9745156-9745156
17 BRPF1 NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs) Duplication Likely pathogenic 984637 GRCh37: 3:9781240-9781241
GRCh38: 3:9739556-9739557
18 BRPF1 NM_001003694.2(BRPF1):c.3456_3458CTT[1] (p.Phe1154del) Microsatellite Likely pathogenic 452827 rs1553697341 GRCh37: 3:9788114-9788116
GRCh38: 3:9746430-9746432
19 BRPF1 NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs) Indel Likely pathogenic 623648 rs1559662068 GRCh37: 3:9783024-9783025
GRCh38: 3:9741340-9741341
20 BRPF1 NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter) SNV Likely pathogenic 625524 rs1559662077 GRCh37: 3:9783028-9783028
GRCh38: 3:9741344-9741344
21 BRPF1 NM_001003694.2(BRPF1):c.1382A>G (p.His461Arg) SNV Uncertain significance 1028412 GRCh37: 3:9781465-9781465
GRCh38: 3:9739781-9739781
22 BRPF1 NM_001003694.2(BRPF1):c.1748C>T (p.Ala583Val) SNV Uncertain significance 1028413 GRCh37: 3:9783017-9783017
GRCh38: 3:9741333-9741333
23 BRPF1 NM_001003694.2(BRPF1):c.2213C>G (p.Ala738Gly) SNV Uncertain significance 1028414 GRCh37: 3:9784839-9784839
GRCh38: 3:9743155-9743155
24 BRPF1 NM_001003694.2(BRPF1):c.2339T>A (p.Leu780Gln) SNV Uncertain significance 1028904 GRCh37: 3:9785289-9785289
GRCh38: 3:9743605-9743605
25 BRPF1 NM_001003694.2(BRPF1):c.2851G>A (p.Gly951Ser) SNV Uncertain significance 1028905 GRCh37: 3:9786123-9786123
GRCh38: 3:9744439-9744439
26 BRPF1 NM_001003694.2(BRPF1):c.227C>T (p.Pro76Leu) SNV Uncertain significance 1031689 GRCh37: 3:9776051-9776051
GRCh38: 3:9734367-9734367
27 BRPF1 NM_001003694.2(BRPF1):c.2297A>G (p.His766Arg) SNV Uncertain significance 1031690 GRCh37: 3:9784923-9784923
GRCh38: 3:9743239-9743239
28 BRPF1 NM_001003694.2(BRPF1):c.47C>T (p.Ala16Val) SNV Uncertain significance 1031691 GRCh37: 3:9775871-9775871
GRCh38: 3:9734187-9734187
29 BRPF1 NM_001003694.2(BRPF1):c.2926C>T (p.Pro976Ser) SNV Uncertain significance 989334 GRCh37: 3:9786697-9786697
GRCh38: 3:9745013-9745013
30 BRPF1 NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) Duplication Uncertain significance 521797 rs762904815 GRCh37: 3:9786077-9786078
GRCh38: 3:9744393-9744394
31 BRPF1 NM_001003694.2(BRPF1):c.1743C>A (p.Asn581Lys) SNV Uncertain significance 930594 GRCh37: 3:9783012-9783012
GRCh38: 3:9741328-9741328

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis:

72
# Symbol AA change Variation ID SNP ID
1 BRPF1 p.Pro370Ser VAR_078077 rs105751950
2 BRPF1 p.Cys389Arg VAR_078078 rs105751951

Expression for Intellectual Developmental Disorder with Dysmorphic Facies and...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis.

Pathways for Intellectual Developmental Disorder with Dysmorphic Facies and...

GO Terms for Intellectual Developmental Disorder with Dysmorphic Facies and...

Sources for Intellectual Developmental Disorder with Dysmorphic Facies and...

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
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