IDPFH
MCID: INT309
MIFTS: 24

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 56 73 29 6
Intellectual Developmental Disorder with Hereditary Persistence of Fetal Hemoglobin 56 73
Dias-Logan Syndrome 56 73
Idpfh 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
intellectual developmental disorder with persistence of fetal hemoglobin:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



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

OMIM : 56 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 bcl11a-related intellectual disability and 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 intellectual disability

UniProtKB/Swiss-Prot : 73 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 bcl11a-related intellectual disability 11.7
2 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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cerebellar atrophy 31 occasional (7.5%) HP:0001272
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 everted lower lip vermilion 31 HP:0000232
6 strabismus 31 HP:0000486
7 retrognathia 31 HP:0000278
8 low-set ears 31 HP:0000369
9 epicanthus 31 HP:0000286
10 joint hypermobility 31 HP:0001382
11 downslanted palpebral fissures 31 HP:0000494
12 overfolded helix 31 HP:0000396
13 thin upper lip vermilion 31 HP:0000219
14 blue sclerae 31 HP:0000592
15 midface retrusion 31 HP:0011800
16 cupped ear 31 HP:0000378

Symptoms via clinical synopsis from OMIM:

56
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

Skeletal:
joint hypermobility

Head And Neck Mouth:
thin upper lip
everted lower lip

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

Head And Neck Head:
microcephaly
retrognathia

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

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. 56 6
27453576 2016
2
BCL11A-Related Intellectual Disability 6
31556984 2019
3
Large-scale discovery of novel genetic causes of developmental disorders. 56
25533962 2015
4
De novo gene disruptions in children on the autistic spectrum. 56
22542183 2012
5
A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. 61
32534219 2020

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

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

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCL11A NM_022893.4(BCL11A):c.529C>T (p.Gln177Ter)SNV Pathogenic 503758 rs1553403736 2:60689518-60689518 2:60462383-60462383
2 BCL11A NM_022893.4(BCL11A):c.385+2T>CSNV Pathogenic 521857 rs1553352926 2:60773104-60773104 2:60545969-60545969
3 BCL11A NM_022893.4(BCL11A):c.1601_1631del (p.Val534fs)deletion Pathogenic 632585 rs1558612412 2:60688416-60688446 2:60461281-60461311
4 BCL11A NM_022893.4(BCL11A):c.295del (p.Val99fs)deletion Pathogenic 632586 rs1558519119 2:60773196-60773196 2:60546061-60546061
5 BCL11A NM_022893.4(BCL11A):c.139A>C (p.Thr47Pro)SNV Pathogenic 253300 rs886037864 2:60773352-60773352 2:60546217-60546217
6 BCL11A NM_022893.4(BCL11A):c.143G>T (p.Cys48Phe)SNV Pathogenic 253301 rs886037865 2:60773348-60773348 2:60546213-60546213
7 BCL11A NM_022893.4(BCL11A):c.198C>A (p.His66Gln)SNV Pathogenic 253302 rs886037866 2:60773293-60773293 2:60546158-60546158
8 BCL11A NM_022893.4(BCL11A):c.1775_1776insTGG (p.Gly592dup)insertion Pathogenic 253304 rs886037867 2:60688271-60688272 2:60461136-60461137
9 BCL11A NM_022893.4(BCL11A):c.154C>T (p.Gln52Ter)SNV Likely pathogenic 253305 rs886037868 2:60773337-60773337 2:60546202-60546202
10 BCL11A NM_022893.4(BCL11A):c.1755C>A (p.Cys585Ter)SNV Likely pathogenic 834057 2:60688292-60688292 2:60461157-60461157
11 BCL11A NM_022893.4(BCL11A):c.193G>T (p.Glu65Ter)SNV Likely pathogenic 559890 rs1553353022 2:60773298-60773298 2:60546163-60546163
12 BCL11A NM_022893.4(BCL11A):c.1078C>G (p.Leu360Val)SNV Uncertain significance 625893 rs746326118 2:60688969-60688969 2:60461834-60461834
13 BCL11A NM_022893.4(BCL11A):c.386-24278G>ASNV Benign 127265 rs11886868 2:60720246-60720246 2:60493111-60493111

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

73
# 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
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30 HMDB
31 HPO
32 ICD10
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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