DIDOD
MCID: DVL020
MIFTS: 21

Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features (DIDOD)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Developmental Delay, Intellectual Disability, Obesity, and...

MalaCards integrated aliases for Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features:

Name: Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 57 75 6
Didod 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most mutations occur de novo
variable features and severity


HPO:

32
developmental delay, intellectual disability, obesity, and dysmorphic features:
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental Delay, Intellectual Disability, Obesity, and...

OMIM : 57 DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018). (617991)

MalaCards based summary : Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features, also known as didod, is related to alacrima, achalasia, and mental retardation syndrome and syndromic intellectual disability. An important gene associated with Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features is PHIP (Pleckstrin Homology Domain Interacting Protein). Affiliated tissues include skin, and related phenotypes are hypertelorism and clinodactyly

UniProtKB/Swiss-Prot : 75 Developmental delay, intellectual disability, obesity, and dysmorphic features: An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features.

Related Diseases for Developmental Delay, Intellectual Disability, Obesity, and...

Diseases related to Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 syndromic intellectual disability 9.7 IRAK1BP1 PHIP

Symptoms & Phenotypes for Developmental Delay, Intellectual Disability, Obesity, and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
synophrys
hypermetropia
more
Skeletal Hands:
clinodactyly
tapering fingers

Neurologic Central Nervous System:
intellectual disability
global developmental delay
learning disabilities

Genitourinary External Genitalia Male:
cryptorchidism

Skeletal:
joint hypermobility

Head And Neck Nose:
small nose
upturned nose
thick alae nasi

Skin Nails Hair Skin:
cafe au lait spots

Growth Weight:
obesity

Head And Neck Mouth:
high palate
thin lips

Head And Neck Face:
long philtrum
micrognathia
short philtrum
round face
high forehead

Neurologic Behavioral Psychiatric Manifestations:
anxiety
impulsivity
autistic features
mood disorders
aggression
more
Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
large ears
thick helices
thick earlobes

Skeletal Feet:
skin syndactyly of the second and third toes


Clinical features from OMIM:

617991

Human phenotypes related to Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 clinodactyly 32 HP:0030084
3 high palate 32 HP:0000218
4 nystagmus 32 HP:0000639
5 intellectual disability 32 HP:0001249
6 macrotia 32 HP:0000400
7 global developmental delay 32 HP:0001263
8 short nose 32 HP:0003196
9 anteverted nares 32 HP:0000463
10 thick eyebrow 32 HP:0000574
11 long philtrum 32 HP:0000343
12 micrognathia 32 HP:0000347
13 strabismus 32 HP:0000486
14 epicanthus 32 HP:0000286
15 attention deficit hyperactivity disorder 32 HP:0007018
16 anxiety 32 HP:0000739
17 short philtrum 32 HP:0000322
18 aggressive behavior 32 HP:0000718
19 upslanted palpebral fissure 32 HP:0000582
20 round face 32 HP:0000311
21 high forehead 32 HP:0000348
22 thin vermilion border 32 HP:0000233
23 synophrys 32 HP:0000664
24 tapered finger 32 HP:0001182
25 impulsivity 32 HP:0100710
26 hypermetropia 32 HP:0000540

Drugs & Therapeutics for Developmental Delay, Intellectual Disability, Obesity, and...

Search Clinical Trials , NIH Clinical Center for Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

Genetic Tests for Developmental Delay, Intellectual Disability, Obesity, and...

Anatomical Context for Developmental Delay, Intellectual Disability, Obesity, and...

MalaCards organs/tissues related to Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features:

41
Skin

Publications for Developmental Delay, Intellectual Disability, Obesity, and...

Articles related to Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features:

# Title Authors Year
1
De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. ( 27900362 )
2016

Variations for Developmental Delay, Intellectual Disability, Obesity, and...

ClinVar genetic disease variations for Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHIP NM_017934.6(PHIP): c.3447T> G (p.Tyr1149Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 78963185: 78963185
2 PHIP NM_017934.6(PHIP): c.3447T> G (p.Tyr1149Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 79672902: 79672902
3 PHIP NM_017934.6(PHIP): c.779delT (p.Leu260Trpfs) deletion Likely pathogenic rs878854421 GRCh37 Chromosome 6, 79735703: 79735703
4 PHIP NM_017934.6(PHIP): c.779delT (p.Leu260Trpfs) deletion Likely pathogenic rs878854421 GRCh38 Chromosome 6, 79025986: 79025986
5 PHIP NM_017934.6(PHIP): c.50T> C (p.Phe17Ser) single nucleotide variant Likely pathogenic rs878854420 GRCh37 Chromosome 6, 79787621: 79787621
6 PHIP NM_017934.6(PHIP): c.50T> C (p.Phe17Ser) single nucleotide variant Likely pathogenic rs878854420 GRCh38 Chromosome 6, 79077904: 79077904
7 PHIP NM_017934.6(PHIP): c.2902C> T (p.Arg968Ter) single nucleotide variant Uncertain significance rs200788163 GRCh37 Chromosome 6, 79680593: 79680593
8 PHIP NM_017934.6(PHIP): c.2902C> T (p.Arg968Ter) single nucleotide variant Uncertain significance rs200788163 GRCh38 Chromosome 6, 78970876: 78970876
9 PHIP NM_017934.6(PHIP): c.298_299del (p.Leu100Ilefs) deletion Pathogenic GRCh38 Chromosome 6, 79060709: 79060710
10 PHIP NM_017934.6(PHIP): c.298_299del (p.Leu100Ilefs) deletion Pathogenic GRCh37 Chromosome 6, 79770426: 79770427
11 PHIP NM_017934.6(PHIP): c.328C> A (p.Arg110Ser) single nucleotide variant Pathogenic rs768324201 GRCh38 Chromosome 6, 79060680: 79060680
12 PHIP NM_017934.6(PHIP): c.328C> A (p.Arg110Ser) single nucleotide variant Pathogenic rs768324201 GRCh37 Chromosome 6, 79770397: 79770397
13 PHIP NM_017934.6(PHIP): c.3571C> T (p.Gln1191Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 78961775: 78961775
14 PHIP NM_017934.6(PHIP): c.3571C> T (p.Gln1191Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 79671492: 79671492

Expression for Developmental Delay, Intellectual Disability, Obesity, and...

Search GEO for disease gene expression data for Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features.

Pathways for Developmental Delay, Intellectual Disability, Obesity, and...

GO Terms for Developmental Delay, Intellectual Disability, Obesity, and...

Sources for Developmental Delay, Intellectual Disability, Obesity, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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