MCID: GLB021
MIFTS: 43

Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies

Categories: Genetic diseases

Aliases & Classifications for Global Developmental Delay, Absent or Hypoplastic Corpus...

MalaCards integrated aliases for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

Name: Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 57 75 6
Developmental Disabilities 44 73
Gdaccf 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation
four unrelated patients have been reported (last curated december 2016)


HPO:

32
global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Global Developmental Delay, Absent or Hypoplastic Corpus...

OMIM : 57 GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016). (617260)

MalaCards based summary : Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies, also known as developmental disabilities, is related to short stature, brachydactyly, intellectual developmental disability, and seizures and fragile x syndrome, and has symptoms including symptoms An important gene associated with Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies is ZNF148 (Zinc Finger Protein 148). Affiliated tissues include kidney, brain and heart, and related phenotypes are renal cyst and renal dysplasia

UniProtKB/Swiss-Prot : 75 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies: An autosomal dominant syndrome characterized by underdevelopment of the corpus callosum, mild to moderate developmental delay and intellectual disability, variable microcephaly or mild macrocephaly, short stature, feeding problems, facial dysmorphisms, and cardiac and renal malformations.

Related Diseases for Global Developmental Delay, Absent or Hypoplastic Corpus...

Diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 short stature, brachydactyly, intellectual developmental disability, and seizures 12.2
2 fragile x syndrome 10.9
3 coffin-siris syndrome 1 10.7
4 trichothiodystrophy 4, nonphotosensitive 10.7
5 trichothiodystrophy 1, photosensitive 10.7
6 trichothiodystrophy 2, photosensitive 10.7
7 trichothiodystrophy 3, photosensitive 10.7
8 kleefstra syndrome 10.7
9 angelman syndrome 10.6
10 floating-harbor syndrome 10.6
11 wolf-hirschhorn syndrome 10.6
12 costello syndrome 10.6
13 fanconi anemia, complementation group a 10.6
14 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.6
15 trichothiodystrophy 5, nonphotosensitive 10.6
16 warburg micro syndrome 1 10.6
17 acrodysostosis 2 with or without hormone resistance 10.6
18 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.6
19 trichothiodystrophy 6, nonphotosensitive 10.6
20 congenital heart defects and ectodermal dysplasia 10.6
21 speech and communication disorders 10.6
22 autism 10.5
23 aging 10.3
24 autism spectrum disorder 10.2
25 alacrima, achalasia, and mental retardation syndrome 10.0
26 cerebral palsy 10.0
27 cerebritis 10.0
28 epilepsy 9.9
29 cervicitis 9.9
30 depression 9.9
31 hepatitis 9.9
32 breast cancer 9.8
33 colorectal cancer 9.8
34 rett syndrome 9.8
35 cervical cancer 9.8
36 anxiety 9.8
37 microcephaly 9.8
38 hepatitis d 9.8
39 substance abuse 9.8
40 mood disorder 9.8
41 attention deficit-hyperactivity disorder 9.6
42 osteoporosis 9.6
43 prader-willi syndrome 9.6
44 down syndrome 9.6
45 williams-beuren syndrome 9.6
46 cerebellar hypoplasia 9.6
47 3-hydroxyacyl-coa dehydrogenase deficiency 9.6
48 smith-lemli-opitz syndrome 9.6
49 tardive dyskinesia 9.6
50 opitz gbbb syndrome, type i 9.6

Graphical network of the top 20 diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:



Diseases related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies

Symptoms & Phenotypes for Global Developmental Delay, Absent or Hypoplastic Corpus...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
smooth philtrum
pointed chin
triangular face
coarse face

Growth Height:
short stature

Head And Neck Eyes:
telecanthus
downslanting palpebral fissures
epicanthal folds
hyperopia
short palpebral fissures
more
Skeletal Feet:
flat feet
club feet

Abdomen Gastrointestinal:
poor feeding

Head And Neck Ears:
abnormally shaped ears

Growth Other:
poor overall growth

Endocrine Features:
growth hormone deficiency (1 patient)

Neurologic Central Nervous System:
intellectual disability
poor speech
enlarged ventricles
absent corpus callosum
delayed psychomotor development
more
Cardiovascular Heart:
patent ductus arteriosus
aortic coarctation
hypoplastic left heart syndrome
mitral valve stenosis
cardiac defects (in 2 of 4 patients)

Head And Neck Mouth:
wide mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
prominent columella

Respiratory:
respiratory insufficiency, neonatal

Head And Neck Head:
microcephaly (in 1 of 4 patients)

Genitourinary Kidneys:
cystic kidneys (in 2 of 4 patients)
dysplastic kidneys (in 2 of 4 patients)


Clinical features from OMIM:

617260

Human phenotypes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

32 (show all 33)
# Description HPO Frequency HPO Source Accession
1 renal cyst 32 HP:0000107
2 renal dysplasia 32 HP:0000110
3 wide mouth 32 HP:0000154
4 microcephaly 32 HP:0000252
5 coarse facial features 32 HP:0000280
6 epicanthus 32 HP:0000286
7 pointed chin 32 HP:0000307
8 smooth philtrum 32 HP:0000319
9 triangular face 32 HP:0000325
10 abnormality of the pinna 32 HP:0000377
11 downslanted palpebral fissures 32 HP:0000494
12 telecanthus 32 HP:0000506
13 hypermetropia 32 HP:0000540
14 upslanted palpebral fissure 32 HP:0000582
15 growth hormone deficiency 32 occasional (7.5%) HP:0000824
16 intellectual disability 32 HP:0001249
17 global developmental delay 32 HP:0001263
18 agenesis of corpus callosum 32 HP:0001274
19 generalized hypotonia 32 HP:0001290
20 patent ductus arteriosus 32 HP:0001643
21 coarctation of aorta 32 HP:0001680
22 mitral stenosis 32 HP:0001718
23 talipes equinovarus 32 HP:0001762
24 pes planus 32 HP:0001763
25 frontal bossing 32 HP:0002007
26 hypoplasia of the corpus callosum 32 HP:0002079
27 respiratory insufficiency 32 HP:0002093
28 ventriculomegaly 32 HP:0002119
29 poor speech 32 HP:0002465
30 short stature 32 HP:0004322
31 low hanging columella 32 HP:0009765
32 feeding difficulties 32 HP:0011968
33 short palpebral fissure 32 HP:0012745

UMLS symptoms related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:


symptoms

MGI Mouse Phenotypes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 JAG1 NIPBL OFD1 PTPN11 ZNF148
2 craniofacial MP:0005382 9.67 JAG1 NIPBL OFD1 PTPN11
3 embryo MP:0005380 9.65 JAG1 NIPBL OFD1 PTPN11 ZNF148
4 growth/size/body region MP:0005378 9.63 FOXL2 JAG1 NIPBL OFD1 PTPN11 ZNF148
5 digestive/alimentary MP:0005381 9.62 JAG1 OFD1 PTPN11 ZNF148
6 hearing/vestibular/ear MP:0005377 9.26 JAG1 NIPBL PTPN11 ZNF148
7 normal MP:0002873 9.02 PTPN11 ZNF148 FOXL2 JAG1 NIPBL

Drugs & Therapeutics for Global Developmental Delay, Absent or Hypoplastic Corpus...

Search Clinical Trials , NIH Clinical Center for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies

Cochrane evidence based reviews: developmental disabilities

Genetic Tests for Global Developmental Delay, Absent or Hypoplastic Corpus...

Anatomical Context for Global Developmental Delay, Absent or Hypoplastic Corpus...

MalaCards organs/tissues related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

41
Kidney, Brain, Heart, Eye, Bone, Testes, Breast

Publications for Global Developmental Delay, Absent or Hypoplastic Corpus...

Articles related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

(show top 50) (show all 611)
# Title Authors Year
1
Differences in patterns of physical participation in recreational activities between children with and without intellectual and developmental disability. ( 28599254 )
2017
2
Evolving Definitions of Autism and Impact on Eligibility for Developmental Disability Services: California Case Example. ( 28608770 )
2017
3
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. ( 28191889 )
2017
4
Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability. ( 28866690 )
2017
5
Treatment of Obesity Among Youth With Intellectual and Developmental Disabilities: An Emerging Role for Telenursing. ( 28349744 )
2017
6
Informing and Equipping Parents of People With Intellectual and Developmental Disabilities. ( 28972871 )
2017
7
Visual attention and academic performance in children with developmental disabilities and behavioural attention deficits. ( 27649816 )
2017
8
The Subjective Well-Being of Parents of Children with Developmental Disabilities: The Role of Hope as Predictor and Fosterer of Well-Being. ( 26959099 )
2016
9
Factor Structure, Internal Consistency, and Screening Sensitivity of the GARS-2 in a Developmental Disabilities Sample. ( 26981279 )
2016
10
The Association of Maternal Obesity and Diabetes With Autism and Other Developmental Disabilities. ( 26826214 )
2016
11
"Teaches People That I'm More Than a Disability": Using Nominal Group Technique in Patient-Oriented Research for People With Intellectual and Developmental Disabilities. ( 27028253 )
2016
12
Use of urine alarms in toilet training children with intellectual and developmental disabilities: A review. ( 26942703 )
2016
13
Comparing Health Status, Health Trajectories and Use of Health and Social Services between Children with and without Developmental Disabilities: A Population-based Longitudinal Study in Manitoba. ( 27041130 )
2016
14
A systematic review and evaluation of procedures for the induction of speech among persons with developmental disabilities. ( 27058303 )
2016
15
Social support received by women with intellectual and developmental disabilities during pregnancy and childbirth: An exploratory qualitative study. ( 27217238 )
2016
16
Clinical outcomes of behavioral treatments for elopement in individuals with autism spectrum disorder and other developmental disabilities. ( 27178995 )
2016
17
Notes from the Field: Strongyloidiasis at a Long-Term-Care Facility for the Developmentally Disabled - Arizona, 2015. ( 27310213 )
2016
18
Evaluation of Behavior Change in Patients with Developmental Disabilities. ( 27175842 )
2016
19
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. ( 27031587 )
2016
20
Frailty as a Predictor of Institutionalization Among Adults With Intellectual and Developmental Disabilities. ( 27028254 )
2016
21
Participation in Early Childhood Educational Environments for Young Children with and Without Developmental Disabilities and Delays: A Mixed Methods Study. ( 26930134 )
2016
22
Selecting score types for longitudinal evaluations: the responsiveness of the Comprehensive Developmental Inventory for Infants and Toddlers in children with developmental disabilities. ( 27217755 )
2016
23
Would People with Intellectual and Developmental Disabilities Benefit from Being Designated "Underserved"? ( 27099192 )
2016
24
Evaluating the Implementation of Health Checks for Adults With Intellectual and Developmental Disabilities in Primary Care: The Importance of Organizational Context. ( 27028255 )
2016
25
Evaluating domains of everyday functioning in people with developmental disabilities. ( 27144680 )
2016
26
Inclusion for People with Developmental Disabilities: Measuring an Elusive Construct. ( 26967017 )
2016
27
Perceptions of Health and Healthcare of People With Intellectual and Developmental Disabilities in Medicaid Managed Care. ( 27028251 )
2016
28
Population impact of preterm birth and low birth weight on developmental disabilities in US children. ( 27085382 )
2016
29
The Relationship Between Pain, Self-Injury, and Other Problem Behaviors in Young Children With Autism and Other Developmental Disabilities. ( 27119211 )
2016
30
Applying for supplemental security income (SSI) for individuals with intellectual and developmental disabilities: family and service coordinator experiences. ( 25633381 )
2015
31
Pregnancy Outcomes Among U.S. Women With Intellectual and Developmental Disabilities. ( 26322390 )
2015
32
Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities. ( 25801009 )
2015
33
Randomized Controlled Trial to Evaluate an Abuse Prevention Curriculum for Women and Men With Intellectual and Developmental Disabilities. ( 26505870 )
2015
34
Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability. ( 26374271 )
2015
35
Predictors of medication adherence and persistence in Medicaid enrollees with developmental disabilities and type 2 diabetes. ( 26522400 )
2015
36
Caregiving and Family Support Interventions: Crossing Networks of Aging and Developmental Disabilities. ( 26458169 )
2015
37
Parental Stress in Families of Children With Autism and Other Developmental Disabilities. ( 25862740 )
2015
38
Marriage, Separation and Beyond: A Longitudinal Study of Families of Children with Intellectual and Developmental Disabilities in a Norwegian Context. ( 26492865 )
2015
39
National health surveillance of adults with disabilities, adults with intellectual and developmental disabilities, and adults with no disabilities. ( 25595297 )
2015
40
Hepatitis A outbreak among adults with developmental disabilities in group homes--Michigan, 2013. ( 25695320 )
2015
41
Risk Factors for Low Bone Mineral Density in Institutionalized Individuals with Developmental Disabilities. ( 26290830 )
2015
42
Update on behavioral interventions for autism and developmental disabilities. ( 25695136 )
2015
43
Agenesis of the corpus callosum: symptoms consistent with developmental disability in two siblings. ( 24417213 )
2015
44
The relationship between contact and attitudes: Reducing prejudice toward individuals with intellectual and developmental disabilities. ( 26342326 )
2015
45
A review of research on direct-care staff data collection regarding the severity and function of challenging behavior in individuals with intellectual and developmental disabilities. ( 26502891 )
2015
46
Book Review: Adults with intellectual and developmental disabilities: Strategies for occupational therapy. ( 26564869 )
2015
47
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities. ( 26544041 )
2015
48
Labour and delivery interventions in women with intellectual and developmental disabilities: a population-based cohort study. ( 26449738 )
2015
49
The Relative Risk of Divorce in Parents of Children With Developmental Disabilities: Impacts of Lifelong Parenting. ( 26505872 )
2015
50
Clinical Outcomes of Behavioral Treatments for Pica in Children with Developmental Disabilities. ( 25636679 )
2015

Variations for Global Developmental Delay, Absent or Hypoplastic Corpus...

ClinVar genetic disease variations for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF148 NM_021964.2(ZNF148): c.1792A> T (p.Lys598Ter) single nucleotide variant Pathogenic rs1057519265 GRCh37 Chromosome 3, 124951778: 124951778
2 ZNF148 NM_021964.2(ZNF148): c.1792A> T (p.Lys598Ter) single nucleotide variant Pathogenic rs1057519265 GRCh38 Chromosome 3, 125232934: 125232934
3 ZNF148 NM_021964.2(ZNF148): c.1583dupA (p.Ser529Glufs) duplication Pathogenic rs1057519266 GRCh38 Chromosome 3, 125233143: 125233143
4 ZNF148 NM_021964.2(ZNF148): c.1583dupA (p.Ser529Glufs) duplication Pathogenic rs1057519266 GRCh37 Chromosome 3, 124951987: 124951987
5 ZNF148 NM_021964.2(ZNF148): c.970dupT (p.Ser324Phefs) duplication Pathogenic rs1057519267 GRCh37 Chromosome 3, 124952600: 124952600
6 ZNF148 NM_021964.2(ZNF148): c.970dupT (p.Ser324Phefs) duplication Pathogenic rs1057519267 GRCh38 Chromosome 3, 125233756: 125233756
7 ZNF148 NM_021964.2(ZNF148): c.1581_1582insC (p.Lys528Glnfs) insertion Pathogenic rs1057519268 GRCh37 Chromosome 3, 124951988: 124951989
8 ZNF148 NM_021964.2(ZNF148): c.1581_1582insC (p.Lys528Glnfs) insertion Pathogenic rs1057519268 GRCh38 Chromosome 3, 125233144: 125233145

Expression for Global Developmental Delay, Absent or Hypoplastic Corpus...

Search GEO for disease gene expression data for Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies.

Pathways for Global Developmental Delay, Absent or Hypoplastic Corpus...

GO Terms for Global Developmental Delay, Absent or Hypoplastic Corpus...

Biological processes related to Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.46 FOXL2 JAG1 NIPBL ZNF148
2 negative regulation of transcription, DNA-templated GO:0045892 9.43 FOXL2 NIPBL ZNF148
3 inner ear development GO:0048839 8.96 JAG1 PTPN11
4 face morphogenesis GO:0060325 8.62 NIPBL PTPN11

Sources for Global Developmental Delay, Absent or Hypoplastic Corpus...

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