GDACCF
MCID: GLB021
MIFTS: 52

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

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 brain, kidney and testes, and related phenotypes are agenesis of corpus callosum and frontal bossing

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 85)
# Related Disease Score Top Affiliating Genes
1 short stature, brachydactyly, intellectual developmental disability, and seizures 12.3
2 fragile x syndrome 11.1
3 trichothiodystrophy 4, nonphotosensitive 10.9
4 trichothiodystrophy 1, photosensitive 10.9
5 trichothiodystrophy 2, photosensitive 10.9
6 trichothiodystrophy 3, photosensitive 10.9
7 kleefstra syndrome 10.9
8 angelman syndrome 10.7
9 coffin-siris syndrome 1 10.7
10 floating-harbor syndrome 10.7
11 wolf-hirschhorn syndrome 10.7
12 costello syndrome 10.7
13 fanconi anemia, complementation group a 10.7
14 muscular dystrophy-dystroglycanopathy , type a, 4 10.7
15 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.7
16 trichothiodystrophy 5, nonphotosensitive 10.7
17 warburg micro syndrome 1 10.7
18 acrodysostosis 2 with or without hormone resistance 10.7
19 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 10.7
20 trichothiodystrophy 6, nonphotosensitive 10.7
21 congenital heart defects and ectodermal dysplasia 10.7
22 spinocerebellar ataxia 47 10.7
23 speech and communication disorders 10.7
24 walker-warburg syndrome 10.7
25 autism 10.7
26 autism spectrum disorder 10.4
27 aging 10.3
28 depression 10.2
29 cerebral palsy 10.1
30 epilepsy 10.1
31 anxiety 10.0
32 down syndrome 10.0
33 rett syndrome 10.0
34 alacrima, achalasia, and mental retardation syndrome 10.0
35 hepatitis 10.0
36 physical disorder 10.0
37 microcephaly 10.0
38 pica disease 10.0
39 breast cancer 9.9
40 colorectal cancer 9.9
41 osteoporosis 9.9
42 tardive dyskinesia 9.9
43 cervical cancer 9.9
44 bone mineral density quantitative trait locus 3 9.9
45 brain injury 9.9
46 dementia 9.9
47 hepatitis d 9.9
48 bruxism 9.9
49 substance abuse 9.9
50 mood disorder 9.9

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

Respiratory:
respiratory insufficiency, neonatal

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

Growth Other:
poor overall growth

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 35)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 respiratory insufficiency 32 HP:0002093
5 coarse facial features 32 HP:0000280
6 global developmental delay 32 HP:0001263
7 pes planus 32 HP:0001763
8 microcephaly 32 HP:0000252
9 smooth philtrum 32 HP:0000319
10 short stature 32 HP:0004322
11 feeding difficulties 32 HP:0011968
12 patent ductus arteriosus 32 HP:0001643
13 epicanthus 32 HP:0000286
14 coarctation of aorta 32 HP:0001680
15 hypoplastic left heart 32 HP:0004383
16 abnormality of the pinna 32 HP:0000377
17 ventriculomegaly 32 HP:0002119
18 talipes equinovarus 32 HP:0001762
19 telecanthus 32 HP:0000506
20 wide mouth 32 HP:0000154
21 downslanted palpebral fissures 32 HP:0000494
22 upslanted palpebral fissure 32 HP:0000582
23 pointed chin 32 HP:0000307
24 triangular face 32 HP:0000325
25 generalized hypotonia 32 HP:0001290
26 hypoplasia of the corpus callosum 32 HP:0002079
27 mitral stenosis 32 HP:0001718
28 renal cyst 32 HP:0000107
29 short palpebral fissure 32 HP:0012745
30 renal dysplasia 32 HP:0000110
31 growth hormone deficiency 32 occasional (7.5%) HP:0000824
32 poor speech 32 HP:0002465
33 hypermetropia 32 HP:0000540
34 low hanging columella 32 HP:0009765
35 delayed ability to walk 32 HP:0031936

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 FOXL2 JAG1 NIPBL PTPN11 ZNF148

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
Brain, Kidney, Testes, Heart, Liver, Bone, Lung

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 1027)
# Title Authors Year
1
Neuroticism and extraversion mediate the relationship between having a sibling with developmental disabilities and anxiety and depression symptoms. ( 30248634 )
2019
2
Recruiting Mothers of Children With Developmental Disabilities: Adaptations of the Snowball Sampling Technique Using Social Media. ( 30545524 )
2019
3
Health Information Infrastructure for People with Intellectual and Developmental Disabilities (I/DD) Living in Supported Accommodation: Communication, Co-Ordination and Integration of Health Information. ( 29068261 )
2019
4
Comparison of autism spectrum disorder surveillance status based on two different diagnostic schemes: Findings from the Metropolitan Atlanta Developmental Disabilities Surveillance Program, 2012. ( 30500831 )
2018
5
Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. ( 30439868 )
2018
6
Correction and Republication: Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012. ( 30439872 )
2018
7
Perspectives on Inclusive Education of Preschool Children with Autism Spectrum Disorders and Other Developmental Disabilities in Iran. ( 30347793 )
2018
8
Longitudinal assessment of stability of sensory features in children with autism spectrum disorder or other developmental disabilities. ( 30194913 )
2018
9
Sensory features as predictors of adaptive behaviors: A comparative longitudinal study of children with autism spectrum disorder and other developmental disabilities. ( 30060977 )
2018
10
State-Level Trends in the Prevalence of Autism Spectrum Disorder (ASD) from 2000 to 2012: A Reanalysis of Findings from the Autism and Developmental Disabilities Network. ( 29654453 )
2018
11
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. ( 29701730 )
2018
12
Large De Novo Microdeletion in Epilepsy with Intellectual and Developmental Disabilities, with a Systems Biology Analysis. ( 30334225 )
2018
13
Caregiving, intellectual disability, and dementia: Report of the Summit Workgroup on Caregiving and Intellectual and Developmental Disabilities. ( 30090847 )
2018
14
A Collaborative Approach to Improving Health Care for Children With Developmental Disabilities. ( 30385639 )
2018
15
The Relationship Between Children's Exposure to Intimate Partner Violence and Intellectual and Developmental Disabilities: A Systematic Review of the Literature. ( 30421974 )
2018
16
Autonomy Benefits and Risks of Assistive Technologies for Persons With Intellectual and Developmental Disabilities. ( 30450353 )
2018
17
Strategies to Promote the Inclusion of Young Adults With Developmental Disabilities in Community-Based Health Studies. ( 30451071 )
2018
18
A review of error correction procedures during instruction for children with developmental disabilities. ( 30468249 )
2018
19
Addressing sequelae of developmental regression associated with developmental disabilities: A systematic review of behavioral and educational intervention studies. ( 30481529 )
2018
20
Do active video games improve motor function in people with developmental disabilities? A meta-analysis of randomized-controlled trials. ( 30508504 )
2018
21
Improving Accuracy of Data Collection on a Psychiatric Unit for Children Diagnosed With Intellectual and Developmental Disabilities. ( 30538904 )
2018
22
A Comparison of Modeling, Prompting, and a Multi-component Intervention for Teaching Play Skills to Children with Developmental Disabilities. ( 30538905 )
2018
23
Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders. ( 30541435 )
2018
24
Statistical learning as a window into developmental disabilities. ( 30541453 )
2018
25
Parental Satisfaction with Caregiving for Children with Developmental Disabilities: Development of a New Assessment Tool. ( 30545000 )
2018
26
Nutritional and dental issues in patients with intellectual and developmental disabilities. ( 29397872 )
2018
27
Smoking behaviors of adults with developmental disabilities and their direct support professional providers. ( 29409722 )
2018
28
Health care expenditures of overweight and obese U.S. adults with intellectual and developmental disabilities. ( 29427860 )
2018
29
Rate of deficit accumulation in home care users with intellectual and developmental disabilities. ( 29433976 )
2018
30
Generalization and maintenance of functional communication training for individuals with developmental disabilities: A systematic and quality review. ( 29471978 )
2018
31
Our Ultimate Fellow Travelers: A Pilot Exploration of Sibling Support for Adults with Developmental Disabilities. ( 29505323 )
2018
32
Medicosocial characteristics as predictors of school achievements in students with intellectual and developmental disabilities: A follow-up study in ujjain and shajapur districts of Madhya Pradesh, India. ( 29512564 )
2018
33
Initial evaluation of the effects of an environmental-focused problem-solving intervention for transition-age young people with developmental disabilities: Project TEAM. ( 29528103 )
2018
34
Teaching Young Adults with Intellectual and Developmental Disabilities Community-Based Navigation Skills to Take Public Transportation. ( 29556448 )
2018
35
No Less Worthy: Recommendations for Behavior Analysts Treating Adults with Intellectual and Developmental Disabilities with Dignity. ( 29556451 )
2018
36
Item-saving assessment of self-care performance in children with developmental disabilities: A prospective caregiver-report computerized adaptive test. ( 29561879 )
2018
37
Use and Nondisclosure of Complementary Health Approaches Among US Children with Developmental Disabilities. ( 29570567 )
2018
38
The Relationship Between Speech, Language, and Phonological Awareness in Preschool-Age Children With Developmental Disabilities. ( 29570753 )
2018
39
Health Services Use and Costs for Americans With Intellectual and Developmental Disabilities: A National Analysis. ( 29584559 )
2018
40
Impact of Medicaid Managed Care on Illinois's Acute Health Services Expenditures for Adults With Intellectual and Developmental Disabilities. ( 29584560 )
2018
41
Identifying the Correlates and Barriers of Future Planning Among Parents of Individuals With Intellectual and Developmental Disabilities. ( 29584562 )
2018
42
Introduction to Transitions in the Life Course of Autism and Other Developmental Disabilities. ( 29610406 )
2018
43
On intellectual and developmental disabilities in the United States: A historical perspective. ( 29621909 )
2018
44
Participation Patterns of Preschool Children With Intellectual Developmental Disabilities. ( 29649939 )
2018
45
Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines. ( 29650602 )
2018
46
Approaches to primary care of adults with intellectual and developmental disabilities: Importance of frameworks for guidelines. ( 29650737 )
2018
47
Consumer inclusion: Experience of patients with intellectual and developmental disabilities informs primary care. ( 29650738 )
2018
48
Managing complexity in care of patients with intellectual and developmental disabilities: Natural fit for the family physician as an expert generalist. ( 29650740 )
2018
49
HELP for behaviours that challenge in adults with intellectual and developmental disabilities. ( 29650741 )
2018
50
Supporting adults with intellectual and developmental disabilities to participate in health care decision making. ( 29650742 )
2018

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
9 ZNF148 NM_021964.2(ZNF148): c.2334_2335del (p.Arg778Serfs) deletion Likely pathogenic GRCh37 Chromosome 3, 124951235: 124951236
10 ZNF148 NM_021964.2(ZNF148): c.2334_2335del (p.Arg778Serfs) deletion Likely pathogenic GRCh38 Chromosome 3, 125232391: 125232392

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 animal organ morphogenesis GO:0009887 9.32 FGD1 JAG1
4 inner ear development GO:0048839 8.96 JAG1 PTPN11
5 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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