DEDDFA
MCID: DVL024
MIFTS: 27

Developmental Delay with or Without Dysmorphic Facies and Autism (DEDDFA)

Categories: Genetic diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Developmental Delay with or Without Dysmorphic Facies and Autism

MalaCards integrated aliases for Developmental Delay with or Without Dysmorphic Facies and Autism:

Name: Developmental Delay with or Without Dysmorphic Facies and Autism 56 73 29 6
Deddfa 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
de novo mutation
group a patients are more severely affected and tend to have multisystemic involvement


HPO:

31
developmental delay with or without dysmorphic facies and autism:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental Delay with or Without Dysmorphic Facies and Autism

OMIM : 56 Developmental delay with or without dysmorphic facies and autism (DEDDFA) is a complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Some patients may be severely affected with no speech and inability to walk, whereas others may be able to attend special schools or have normal intellectual function associated with autism spectrum disorder and mild speech delay. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups. Patients with TRRAP mutations affecting residues 1031-1159 have a more severe disorder, often with multisystem involvement, including renal, cardiac, and genitourinary systems, as well as structural brain abnormalities. Patients with mutations outside of that region tend to have a less severe phenotype with a higher incidence of autism and usually no systemic involvement. Patients in both groups usually have somewhat similar dysmorphic facial features, such as upslanting palpebral fissures, hypertelorism, low-set ears, and broad or depressed nasal bridge, although these features are highly variable (summary by Cogne et al., 2019). (618454)

MalaCards based summary : Developmental Delay with or Without Dysmorphic Facies and Autism, is also known as deddfa. An important gene associated with Developmental Delay with or Without Dysmorphic Facies and Autism is TRRAP (Transformation/Transcription Domain Associated Protein). Affiliated tissues include brain, eye and heart, and related phenotypes are seizure and hearing impairment

UniProtKB/Swiss-Prot : 73 Developmental delay with or without dysmorphic facies and autism: An autosomal dominant neurodevelopmental disorder apparent from infancy or early childhood. Some patients present with intellectual disability and renal, cardiac, genitourinary systems, as well as structural brain abnormalities. In some cases, the phenotype is less severe, has no systemic involvement and is characterized by autism spectrum disorder and/or intellectual disability, sometimes associated with epilepsy. Affected individuals manifest variable dysmorphic features.

Related Diseases for Developmental Delay with or Without Dysmorphic Facies and Autism

Symptoms & Phenotypes for Developmental Delay with or Without Dysmorphic Facies and Autism

Human phenotypes related to Developmental Delay with or Without Dysmorphic Facies and Autism:

31 (show top 50) (show all 62)
# Description HPO Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 hearing impairment 31 HP:0000365
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 inguinal hernia 31 HP:0000023
6 hypertelorism 31 HP:0000316
7 scoliosis 31 HP:0002650
8 wide nasal bridge 31 HP:0000431
9 umbilical hernia 31 HP:0001537
10 short nose 31 HP:0003196
11 microcephaly 31 HP:0000252
12 smooth philtrum 31 HP:0000319
13 anteverted nares 31 HP:0000463
14 visual impairment 31 HP:0000505
15 short stature 31 HP:0004322
16 prominent forehead 31 HP:0011220
17 feeding difficulties 31 HP:0011968
18 absent speech 31 HP:0001344
19 cleft palate 31 HP:0000175
20 cryptorchidism 31 HP:0000028
21 micrognathia 31 HP:0000347
22 low-set ears 31 HP:0000369
23 epicanthus 31 HP:0000286
24 coarctation of aorta 31 HP:0001680
25 wide mouth 31 HP:0000154
26 cerebral cortical atrophy 31 HP:0002120
27 upslanted palpebral fissure 31 HP:0000582
28 clinodactyly of the 5th finger 31 HP:0004209
29 obsessive-compulsive behavior 31 HP:0000722
30 patent ductus arteriosus 31 HP:0001643
31 vesicoureteral reflux 31 HP:0000076
32 hydronephrosis 31 HP:0000126
33 highly arched eyebrow 31 HP:0002553
34 thin upper lip vermilion 31 HP:0000219
35 deeply set eye 31 HP:0000490
36 prominent nasal bridge 31 HP:0000426
37 renal hypoplasia 31 HP:0000089
38 short philtrum 31 HP:0000322
39 bulbous nose 31 HP:0000414
40 congenital diaphragmatic hernia 31 HP:0000776
41 hypotelorism 31 HP:0000601
42 polymicrogyria 31 HP:0002126
43 nail dysplasia 31 HP:0002164
44 short foot 31 HP:0001773
45 scrotal hypoplasia 31 HP:0000046
46 hypoplasia of the corpus callosum 31 HP:0002079
47 supernumerary nipple 31 HP:0002558
48 posteriorly rotated ears 31 HP:0000358
49 autistic behavior 31 HP:0000729
50 cerebellar vermis hypoplasia 31 HP:0001320

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
hearing impairment
low-set ears
posteriorly rotated ears

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
short nose
prominent nasal bridge
narrow nose
more
Head And Neck Eyes:
hypertelorism
visual impairment
hypotelorism
epicanthal folds
deep-set eyes
more
Growth Height:
short stature

Head And Neck Mouth:
cleft palate
wide mouth
cleft lip
thin upper lip

Cardiovascular Heart:
patent ductus arteriosus
patent foramen ovale
septal defects
coarctation of the aorta
congenital heart malformations (group a)

Genitourinary Kidneys:
hydronephrosis
renal cysts
small kidneys
cystic dysplasia

Respiratory Larynx:
laryngotracheomalacia

Skeletal Hands:
fifth finger clinodactyly
tapering digits
brachydactyly, small hands

Skin Nails Hair Nails:
small nails
dysplastic nails (group a)
scooped nails

Skeletal Feet:
small feet
cutaneous syndactyly of toes 2/3

Head And Neck Head:
microcephaly (group a)

Skeletal Spine:
scoliosis (group a)

Neurologic Central Nervous System:
global developmental delay
absent speech
polymicrogyria
cerebellar vermis hypoplasia
poor speech
more
Muscle Soft Tissue:
inguinal hernia
umbilical hernia
hypotonia

Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
short philtrum
dysmorphic features, variable

Abdomen Gastrointestinal:
feeding difficulties
tube feeding (group a)

Genitourinary External Genitalia Male:
cryptorchidism
microphallus
hypoplastic scrotum

Genitourinary Bladder:
vesicoureteral reflux

Chest Diaphragm:
congenital diaphragmatic hernia

Cardiovascular Vascular:
pulmonary hypertension

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
obsessive-compulsive disorder

Chest Breasts:
accessory nipple

Genitourinary Internal Genitalia Female:
duplicated uterus
duplicated vagina

Genitourinary:
genitourinary malformations (group a)

Clinical features from OMIM:

618454

Drugs & Therapeutics for Developmental Delay with or Without Dysmorphic Facies and Autism

Search Clinical Trials , NIH Clinical Center for Developmental Delay with or Without Dysmorphic Facies and Autism

Genetic Tests for Developmental Delay with or Without Dysmorphic Facies and Autism

Genetic tests related to Developmental Delay with or Without Dysmorphic Facies and Autism:

# Genetic test Affiliating Genes
1 Developmental Delay with or Without Dysmorphic Facies and Autism 29

Anatomical Context for Developmental Delay with or Without Dysmorphic Facies and Autism

MalaCards organs/tissues related to Developmental Delay with or Without Dysmorphic Facies and Autism:

40
Brain, Eye, Heart, Kidney, Uterus

Publications for Developmental Delay with or Without Dysmorphic Facies and Autism

Articles related to Developmental Delay with or Without Dysmorphic Facies and Autism:

# Title Authors PMID Year
1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 6 56
30827496 2019
2
De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. 6 56
30424743 2018
3
Neurogenetic analysis of childhood disintegrative disorder. 56
28392909 2017
4
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. 56
23042115 2012
5
Exome sequencing supports a de novo mutational paradigm for schizophrenia. 56
21822266 2011

Variations for Developmental Delay with or Without Dysmorphic Facies and Autism

ClinVar genetic disease variations for Developmental Delay with or Without Dysmorphic Facies and Autism:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRRAP NM_003496.3(TRRAP):c.5957G>A (p.Arg1986Gln)SNV Pathogenic 634847 rs1562959030 7:98553863-98553863 7:98956240-98956240
2 TRRAP NM_003496.3(TRRAP):c.2413C>T (p.Leu805Phe)SNV Pathogenic 634848 rs1562940289 7:98515093-98515093 7:98917470-98917470
3 TRRAP NM_003496.3(TRRAP):c.3127G>A (p.Ala1043Thr)SNV Pathogenic 634849 rs1562945106 7:98524941-98524941 7:98927318-98927318
4 TRRAP NM_003496.3(TRRAP):c.5542T>A (p.Trp1848Arg)SNV Pathogenic 634850 rs1562957569 7:98550943-98550943 7:98953320-98953320
5 TRRAP NM_003496.3(TRRAP):c.5544G>T (p.Trp1848Cys)SNV Pathogenic 634851 rs1562957576 7:98550945-98550945 7:98953322-98953322
6 TRRAP NM_001375524.1(TRRAP):c.3128C>T (p.Ala1043Val)SNV Pathogenic 870465 7:98524942-98524942 7:98927319-98927319

UniProtKB/Swiss-Prot genetic disease variations for Developmental Delay with or Without Dysmorphic Facies and Autism:

73
# Symbol AA change Variation ID SNP ID
1 TRRAP p.Ile1031Met VAR_082972
2 TRRAP p.Ala1043Thr VAR_082975 rs156294510
3 TRRAP p.Glu1104Gly VAR_082976
4 TRRAP p.Glu1106Lys VAR_082977
5 TRRAP p.Gly1159Arg VAR_082979
6 TRRAP p.Arg1859Cys VAR_082980
7 TRRAP p.Trp1866Arg VAR_082982 rs156295756
8 TRRAP p.Gly1883Arg VAR_082983

Expression for Developmental Delay with or Without Dysmorphic Facies and Autism

Search GEO for disease gene expression data for Developmental Delay with or Without Dysmorphic Facies and Autism.

Pathways for Developmental Delay with or Without Dysmorphic Facies and Autism

GO Terms for Developmental Delay with or Without Dysmorphic Facies and Autism

Sources for Developmental Delay with or Without Dysmorphic Facies and Autism

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
45 MGI
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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