MCID: INT310
MIFTS: 17

Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis

Categories: Genetic 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 75 6
Idddfp 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
intellectual developmental disorder with dysmorphic facies and ptosis:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal dominant inheritance


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)

MalaCards based summary : Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis, is also known as idddfp. An important gene associated with Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis is BRPF1 (Bromodomain And PHD Finger Containing 1). Related phenotypes are wide mouth and narrow mouth

UniProtKB/Swiss-Prot : 75 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...

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
strabismus
blepharophimosis
downslanting palpebral fissures

Head And Neck Face:
long philtrum
broad forehead
short philtrum
round face
flat facial profile
more
Head And Neck Mouth:
wide mouth
small mouth
downturned corners of the mouth

Muscle Soft Tissue:
hypotonia

Growth Height:
short stature (in some patients)

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)

Neurologic Central Nervous System:
intellectual disability
global developmental delay
speech delay
delayed walking
abnormal myelination (in some patients)
more
Abdomen Gastrointestinal:
feeding difficulties

Skeletal Hands:
camptodactyly
brachymetacarpia

Head And Neck Nose:
broad nasal root
fleshy nose

Skeletal Feet:
club feet

Head And Neck Ears:
abnormally shaped ears

Skeletal:
joint hypermotility


Clinical features from OMIM:

617333

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

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 narrow mouth 32 HP:0000160
3 microcephaly 32 occasional (7.5%) HP:0000252
4 round face 32 HP:0000311
5 hypertelorism 32 HP:0000316
6 short philtrum 32 HP:0000322
7 broad forehead 32 HP:0000337
8 long philtrum 32 HP:0000343
9 abnormality of the pinna 32 HP:0000377
10 wide nasal bridge 32 HP:0000431
11 strabismus 32 HP:0000486
12 downslanted palpebral fissures 32 HP:0000494
13 ptosis 32 HP:0000508
14 blepharophimosis 32 HP:0000581
15 delayed speech and language development 32 HP:0000750
16 intellectual disability 32 HP:0001249
17 global developmental delay 32 HP:0001263
18 generalized hypotonia 32 HP:0001290
19 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
20 talipes equinovarus 32 HP:0001762
21 downturned corners of mouth 32 HP:0002714
22 short stature 32 occasional (7.5%) HP:0004322
23 feeding difficulties 32 HP:0011968
24 flat face 32 HP:0012368
25 camptodactyly 32 HP:0012385
26 abnormal myelination 32 occasional (7.5%) HP:0012447

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...

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

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 BRPF1 p.Pro370Ser VAR_078077 rs1057519509Intellectual
2 BRPF1 p.Cys389Arg VAR_078078 rs1057519515Intellectual

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

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRPF1 NM_001003694.1(BRPF1): c.1052_1053delTG (p.Val351Glyfs) deletion Pathogenic rs886041090 GRCh37 Chromosome 3, 9781135: 9781136
2 BRPF1 NM_001003694.1(BRPF1): c.1052_1053delTG (p.Val351Glyfs) deletion Pathogenic rs886041090 GRCh38 Chromosome 3, 9739451: 9739452
3 BRPF1 NM_001003694.1(BRPF1): c.1108C> T (p.Pro370Ser) single nucleotide variant Pathogenic rs1057519509 GRCh37 Chromosome 3, 9781191: 9781191
4 BRPF1 NM_001003694.1(BRPF1): c.1108C> T (p.Pro370Ser) single nucleotide variant Pathogenic rs1057519509 GRCh38 Chromosome 3, 9739507: 9739507
5 BRPF1 NM_001003694.1(BRPF1): c.1363C> T (p.Arg455Ter) single nucleotide variant Pathogenic rs1057519510 GRCh37 Chromosome 3, 9781446: 9781446
6 BRPF1 NM_001003694.1(BRPF1): c.1363C> T (p.Arg455Ter) single nucleotide variant Pathogenic rs1057519510 GRCh38 Chromosome 3, 9739762: 9739762
7 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh37 Chromosome 3, 9776186: 9776187
8 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh38 Chromosome 3, 9734502: 9734503
9 BRPF1 NM_001003694.1(BRPF1): c.2497C> T (p.Arg833Ter) single nucleotide variant Pathogenic rs1057519512 GRCh37 Chromosome 3, 9785447: 9785447
10 BRPF1 NM_001003694.1(BRPF1): c.2497C> T (p.Arg833Ter) single nucleotide variant Pathogenic rs1057519512 GRCh38 Chromosome 3, 9743763: 9743763
11 BRPF1 NM_001003694.1(BRPF1): c.3298C> T (p.Arg1100Ter) single nucleotide variant Pathogenic rs1057519513 GRCh37 Chromosome 3, 9787588: 9787588
12 BRPF1 NM_001003694.1(BRPF1): c.3298C> T (p.Arg1100Ter) single nucleotide variant Pathogenic rs1057519513 GRCh38 Chromosome 3, 9745904: 9745904
13 BRPF1 NM_001003694.1(BRPF1): c.2982C> G (p.Tyr994Ter) single nucleotide variant Pathogenic rs1057519514 GRCh37 Chromosome 3, 9786753: 9786753
14 BRPF1 NM_001003694.1(BRPF1): c.2982C> G (p.Tyr994Ter) single nucleotide variant Pathogenic rs1057519514 GRCh38 Chromosome 3, 9745069: 9745069
15 BRPF1 NM_001003694.1(BRPF1): c.1165T> C (p.Cys389Arg) single nucleotide variant Pathogenic rs1057519515 GRCh38 Chromosome 3, 9739564: 9739564
16 BRPF1 NM_001003694.1(BRPF1): c.1165T> C (p.Cys389Arg) single nucleotide variant Pathogenic rs1057519515 GRCh37 Chromosome 3, 9781248: 9781248
17 BRPF1 NM_001003694.1(BRPF1): c.567delT (p.Asp190Metfs) deletion Pathogenic rs1057519516 GRCh37 Chromosome 3, 9776391: 9776391
18 BRPF1 NM_001003694.1(BRPF1): c.567delT (p.Asp190Metfs) deletion Pathogenic rs1057519516 GRCh38 Chromosome 3, 9734707: 9734707
19 BRPF1 NM_001003694.1(BRPF1): c.104dupA (p.Tyr35Terfs) duplication Pathogenic rs1057519517 GRCh37 Chromosome 3, 9775928: 9775928
20 BRPF1 NM_001003694.1(BRPF1): c.104dupA (p.Tyr35Terfs) duplication Pathogenic rs1057519517 GRCh38 Chromosome 3, 9734244: 9734244
21 BRPF1 NM_001003694.1(BRPF1): c.3459_3461delCTT (p.Phe1154del) deletion Likely pathogenic GRCh37 Chromosome 3, 9788118: 9788120
22 BRPF1 NM_001003694.1(BRPF1): c.3459_3461delCTT (p.Phe1154del) deletion Likely pathogenic GRCh38 Chromosome 3, 9746434: 9746436

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...

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