DIDOD
MCID: DVL023
MIFTS: 23

Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism (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 Dysmorphism:

Name: Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism 57 6
Didod 57 74
Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features 74

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 dysmorphism:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 57 617991

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 Dysmorphism, also known as didod, is related to alacrima, achalasia, and mental retardation syndrome and muscular atrophy. An important gene associated with Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism is PHIP (Pleckstrin Homology Domain Interacting Protein). Affiliated tissues include skin, and related phenotypes are hypertelorism and obesity

UniProtKB/Swiss-Prot : 74 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 Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.2
2 muscular atrophy 10.2
3 hypotonia 10.2

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

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

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 obesity 32 HP:0001513
3 clinodactyly 32 HP:0030084
4 high palate 32 HP:0000218
5 nystagmus 32 HP:0000639
6 intellectual disability 32 HP:0001249
7 macrotia 32 HP:0000400
8 global developmental delay 32 HP:0001263
9 short nose 32 HP:0003196
10 anteverted nares 32 HP:0000463
11 thick eyebrow 32 HP:0000574
12 long philtrum 32 HP:0000343
13 micrognathia 32 HP:0000347
14 short philtrum 32 HP:0000322
15 generalized hypotonia 32 HP:0001290
16 strabismus 32 HP:0000486
17 epicanthus 32 HP:0000286
18 cryptorchidism 32 HP:0000028
19 attention deficit hyperactivity disorder 32 HP:0007018
20 anxiety 32 HP:0000739
21 aggressive behavior 32 HP:0000718
22 joint hypermobility 32 HP:0001382
23 upslanted palpebral fissure 32 HP:0000582
24 round face 32 HP:0000311
25 high forehead 32 HP:0000348
26 thin vermilion border 32 HP:0000233
27 synophrys 32 HP:0000664
28 tapered finger 32 HP:0001182
29 impulsivity 32 HP:0100710
30 cafe-au-lait spot 32 HP:0000957
31 hypermetropia 32 HP:0000540

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

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

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

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 Dysmorphism:

41
Skin

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

Articles related to Developmental Delay, Intellectual Disability, Obesity, and Dysmorphism:

# Title Authors PMID Year
1
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. 38 8 71
27900362 2016
2
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. 8 71
29209020 2018
3
Diagnostic exome sequencing in persons with severe intellectual disability. 8 71
23033978 2012

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

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

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PHIP NM_017934.7(PHIP): c.298_299del (p.Leu100fs) deletion Pathogenic rs1554212744 6:79770426-79770427 6:79060709-79060710
2 PHIP NM_017934.7(PHIP): c.328C> A (p.Arg110Ser) single nucleotide variant Pathogenic rs768324201 6:79770397-79770397 6:79060680-79060680
3 PHIP NM_017934.7(PHIP): c.3571C> T (p.Gln1191Ter) single nucleotide variant Pathogenic rs1554196907 6:79671492-79671492 6:78961775-78961775
4 PHIP NM_017934.7(PHIP): c.3447T> G (p.Tyr1149Ter) single nucleotide variant Pathogenic 6:79672902-79672902 6:78963185-78963185
5 PHIP NM_017934.7(PHIP): c.4570del (p.Ser1524fs) deletion Pathogenic 6:79655778-79655778 6:78946062-78946062
6 PHIP NM_017934.7(PHIP): c.3595del (p.Thr1198_Val1199insTer) deletion Pathogenic 6:79671468-79671468 6:78961751-78961751
7 PHIP NM_017934.7(PHIP): c.3161del (p.Val1053_Leu1054insTer) deletion Pathogenic 6:79679596-79679596 6:78969880-78969880
8 PHIP NM_017934.7(PHIP): c.2744_2747del (p.Lys915fs) deletion Pathogenic 6:79692625-79692628 6:78982910-78982913
9 PHIP NM_017934.7(PHIP): c.540_541insA (p.Gly181fs) insertion Pathogenic 6:79752619-79752620 6:79042902-79042903
10 PHIP NM_017934.7(PHIP): c.705T> G (p.Tyr235Ter) single nucleotide variant Pathogenic 6:79735777-79735777 6:79026060-79026060
11 PHIP NM_017934.7(PHIP): c.3656+1242A> T single nucleotide variant Pathogenic 6:79670165-79670165 6:78960448-78960448
12 PHIP NM_017934.7(PHIP): c.598_599delinsT (p.Thr200fs) indel Pathogenic/Likely pathogenic rs1554210073 6:79752561-79752562 6:79042844-79042845
13 PHIP NM_017934.7(PHIP): c.860C> A (p.Ser287Tyr) single nucleotide variant Likely pathogenic rs1085307845 6:79735299-79735299 6:79025582-79025582
14 PHIP NM_017934.5(PHIP): c.3782+3_3782+6delAAGT deletion Likely pathogenic rs1131691771 6:79668186-79668189 6:78958469-78958472
15 PHIP NM_017934.7(PHIP): c.1562A> G (p.Lys521Arg) single nucleotide variant Likely pathogenic 6:79713538-79713538 6:79003821-79003821
16 PHIP NM_017934.7(PHIP): c.686C> T (p.Ser229Leu) single nucleotide variant Likely pathogenic 6:79735796-79735796 6:79026079-79026079
17 PHIP NM_017934.7(PHIP): c.779del (p.Leu260fs) deletion Likely pathogenic rs878854421 6:79735703-79735703 6:79025986-79025986
18 PHIP NM_017934.7(PHIP): c.50T> C (p.Phe17Ser) single nucleotide variant Likely pathogenic rs878854420 6:79787621-79787621 6:79077904-79077904
19 PHIP NM_017934.7(PHIP): c.2902C> T (p.Arg968Ter) single nucleotide variant Uncertain significance rs200788163 6:79680593-79680593 6:78970876-78970876

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

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

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...

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10 dbSNP
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17 EFO
18 ExPASy
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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