IDPFH
MCID: INT309
MIFTS: 20

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 58 76 30 6
Intellectual Developmental Disorder with Hereditary Persistence of Fetal Hemoglobin 58 76
Dias-Logan Syndrome 58 76
Idpfh 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
intellectual developmental disorder with persistence of fetal hemoglobin:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 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 : 76 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 11.4

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

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

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 cerebellar atrophy 33 occasional (7.5%) HP:0001272
2 low-set ears 33 HP:0000369
3 intellectual disability 33 HP:0001249
4 global developmental delay 33 HP:0001263
5 microcephaly 33 HP:0000252
6 retrognathia 33 HP:0000278
7 strabismus 33 HP:0000486
8 epicanthus 33 HP:0000286
9 everted lower lip vermilion 33 HP:0000232
10 joint hypermobility 33 HP:0001382
11 downslanted palpebral fissures 33 HP:0000494
12 overfolded helix 33 HP:0000396
13 thin upper lip vermilion 33 HP:0000219
14 midface retrusion 33 HP:0011800
15 blue sclerae 33 HP:0000592
16 cupped ear 33 HP:0000378

Symptoms via clinical synopsis from OMIM:

58
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 30 BCL11A

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

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

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

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

76
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL11A NM_018014.3(BCL11A): c.139A> C (p.Thr47Pro) single nucleotide variant Pathogenic rs886037864 GRCh37 Chromosome 2, 60773352: 60773352
2 BCL11A NM_018014.3(BCL11A): c.139A> C (p.Thr47Pro) single nucleotide variant Pathogenic rs886037864 GRCh38 Chromosome 2, 60546217: 60546217
3 BCL11A NM_018014.3(BCL11A): c.143G> T (p.Cys48Phe) single nucleotide variant Pathogenic rs886037865 GRCh37 Chromosome 2, 60773348: 60773348
4 BCL11A NM_018014.3(BCL11A): c.143G> T (p.Cys48Phe) single nucleotide variant Pathogenic rs886037865 GRCh38 Chromosome 2, 60546213: 60546213
5 BCL11A NM_018014.3(BCL11A): c.198C> A (p.His66Gln) single nucleotide variant Pathogenic rs886037866 GRCh38 Chromosome 2, 60546158: 60546158
6 BCL11A NM_018014.3(BCL11A): c.198C> A (p.His66Gln) single nucleotide variant Pathogenic rs886037866 GRCh37 Chromosome 2, 60773293: 60773293
7 BCL11A NM_018014.3(BCL11A): c.1775_1776insTGG (p.Gly592_Glu593insGly) insertion Pathogenic rs886037867 GRCh37 Chromosome 2, 60688271: 60688272
8 BCL11A NM_018014.3(BCL11A): c.1775_1776insTGG (p.Gly592_Glu593insGly) insertion Pathogenic rs886037867 GRCh38 Chromosome 2, 60461136: 60461137
9 BCL11A NM_018014.3(BCL11A): c.154C> T (p.Gln52Ter) single nucleotide variant Pathogenic rs886037868 GRCh38 Chromosome 2, 60546202: 60546202
10 BCL11A NM_018014.3(BCL11A): c.154C> T (p.Gln52Ter) single nucleotide variant Pathogenic rs886037868 GRCh37 Chromosome 2, 60773337: 60773337
11 BCL11A NM_018014.3(BCL11A): c.193G> T (p.Glu65Ter) single nucleotide variant Likely pathogenic rs1553353022 GRCh38 Chromosome 2, 60546163: 60546163
12 BCL11A NM_018014.3(BCL11A): c.193G> T (p.Glu65Ter) single nucleotide variant Likely pathogenic rs1553353022 GRCh37 Chromosome 2, 60773298: 60773298

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...

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75 UMLS via Orphanet
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