IDPFH
MCID: INT309
MIFTS: 22

Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin (IDPFH)

Categories: Blood diseases, Ear diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Persistence of Fetal...

MalaCards integrated aliases for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

Name: Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 57 74 29 6
Intellectual Developmental Disorder with Hereditary Persistence of Fetal Hemoglobin 57 74
Dias-Logan Syndrome 57 74
Idpfh 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
mutations occur de novo
variable dysmorphic features


HPO:

32
intellectual developmental disorder with persistence of fetal hemoglobin:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 617101
MeSH 44 D065886

Summaries for Intellectual Developmental Disorder with Persistence of Fetal...

OMIM : 57 Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016). Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (612513). (617101)

MalaCards based summary : Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin, also known as intellectual developmental disorder with hereditary persistence of fetal hemoglobin, is related to chromosome 2p16.1-p15 deletion syndrome. An important gene associated with Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin is BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A). Related phenotypes are cerebellar atrophy and low-set ears

UniProtKB/Swiss-Prot : 74 Intellectual developmental disorder with persistence of fetal hemoglobin: An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin.

Related Diseases for Intellectual Developmental Disorder with Persistence of Fetal...

Diseases related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chromosome 2p16.1-p15 deletion syndrome 11.5

Symptoms & Phenotypes for Intellectual Developmental Disorder with Persistence of Fetal...

Human phenotypes related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cerebellar atrophy 32 occasional (7.5%) HP:0001272
2 low-set ears 32 HP:0000369
3 intellectual disability 32 HP:0001249
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 retrognathia 32 HP:0000278
7 strabismus 32 HP:0000486
8 epicanthus 32 HP:0000286
9 everted lower lip vermilion 32 HP:0000232
10 overfolded helix 32 HP:0000396
11 joint hypermobility 32 HP:0001382
12 downslanted palpebral fissures 32 HP:0000494
13 thin upper lip vermilion 32 HP:0000219
14 midface retrusion 32 HP:0011800
15 blue sclerae 32 HP:0000592
16 cupped ear 32 HP:0000378

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
overfolded ears
cupped ears
external ear anomalies

Head And Neck Head:
microcephaly
retrognathia

Skeletal:
joint hypermobility

Head And Neck Mouth:
thin upper lip
everted lower lip

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities
autistic features (in some patients)

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
cerebellar atrophy (in some patients)
delayed language acquisition

Head And Neck Eyes:
strabismus
downslanting palpebral fissures
epicanthal folds
blue sclerae in infancy

Head And Neck Face:
flat midface

Head And Neck Nose:
small nares
full tip

Hematology:
persistent fetal hemoglobin

Clinical features from OMIM:

617101

Drugs & Therapeutics for Intellectual Developmental Disorder with Persistence of Fetal...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin

Genetic Tests for Intellectual Developmental Disorder with Persistence of Fetal...

Genetic tests related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 BCL11A

Anatomical Context for Intellectual Developmental Disorder with Persistence of Fetal...

Publications for Intellectual Developmental Disorder with Persistence of Fetal...

Articles related to Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

# Title Authors PMID Year
1
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. 8 71
27453576 2016
2
Large-scale discovery of novel genetic causes of developmental disorders. 8
25533962 2015
3
De novo gene disruptions in children on the autistic spectrum. 8
22542183 2012

Variations for Intellectual Developmental Disorder with Persistence of Fetal...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BCL11A NM_018014.4(BCL11A): c.139A> C (p.Thr47Pro) single nucleotide variant Pathogenic rs886037864 2:60773352-60773352 2:60546217-60546217
2 BCL11A NM_018014.4(BCL11A): c.143G> T (p.Cys48Phe) single nucleotide variant Pathogenic rs886037865 2:60773348-60773348 2:60546213-60546213
3 BCL11A NM_018014.4(BCL11A): c.198C> A (p.His66Gln) single nucleotide variant Pathogenic rs886037866 2:60773293-60773293 2:60546158-60546158
4 BCL11A NM_018014.4(BCL11A): c.1775_1776insTGG (p.Gly592dup) insertion Pathogenic rs886037867 2:60688271-60688272 2:60461136-60461137
5 BCL11A NM_018014.4(BCL11A): c.154C> T (p.Gln52Ter) single nucleotide variant Pathogenic rs886037868 2:60773337-60773337 2:60546202-60546202
6 BCL11A NM_018014.4(BCL11A): c.1601_1631del (p.Val534fs) deletion Pathogenic 2:60688416-60688446 2:60461281-60461311
7 BCL11A NM_018014.4(BCL11A): c.295del (p.Val99fs) deletion Pathogenic 2:60773196-60773196 2:60546061-60546061
8 BCL11A NM_018014.4(BCL11A): c.193G> T (p.Glu65Ter) single nucleotide variant Likely pathogenic rs1553353022 2:60773298-60773298 2:60546163-60546163
9 BCL11A NM_018014.4(BCL11A): c.1078C> G (p.Leu360Val) single nucleotide variant Uncertain significance 2:60688969-60688969 2:60461834-60461834
10 BCL11A NM_018014.4(BCL11A): c.386-24278G> A single nucleotide variant Benign rs11886868 2:60720246-60720246 2:60493111-60493111

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin:

74
# Symbol AA change Variation ID SNP ID
1 BCL11A p.Thr47Pro VAR_076921 rs886037864
2 BCL11A p.Cys48Phe VAR_076922 rs886037865
3 BCL11A p.His66Gln VAR_076923 rs886037866

Expression for Intellectual Developmental Disorder with Persistence of Fetal...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin.

Pathways for Intellectual Developmental Disorder with Persistence of Fetal...

GO Terms for Intellectual Developmental Disorder with Persistence of Fetal...

Sources for Intellectual Developmental Disorder with Persistence of Fetal...

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