MCID: INT309
MIFTS: 20

Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin

Categories: Genetic diseases, Fetal diseases, Blood 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 75 29 6
Intellectual Developmental Disorder with Hereditary Persistence of Fetal Hemoglobin 57 75
Dias-Logan Syndrome 57
Idpfh 75

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:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



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 (B Cell CLL/Lymphoma 11A). Related phenotypes are thin upper lip vermilion and everted lower lip vermilion

UniProtKB/Swiss-Prot : 75 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 11.2

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

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

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

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

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...

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

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

75
# 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
# 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

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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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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