MCID: DVL020
MIFTS: 14

Developmental Delay, Intellectual Disability, Obesity, and Dysmorphic Features

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 6
Didod 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


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

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 10.1

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

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 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 PHIP PHIP, TYR1149TER single nucleotide variant Pathogenic
2 PHIP NM_017934.6(PHIP): c.779delT (p.Leu260Trpfs) deletion Likely pathogenic rs878854421 GRCh37 Chromosome 6, 79735703: 79735703
3 PHIP NM_017934.6(PHIP): c.779delT (p.Leu260Trpfs) deletion Likely pathogenic rs878854421 GRCh38 Chromosome 6, 79025986: 79025986
4 PHIP NM_017934.6(PHIP): c.50T> C (p.Phe17Ser) single nucleotide variant Likely pathogenic rs878854420 GRCh37 Chromosome 6, 79787621: 79787621
5 PHIP NM_017934.6(PHIP): c.50T> C (p.Phe17Ser) single nucleotide variant Likely pathogenic rs878854420 GRCh38 Chromosome 6, 79077904: 79077904
6 PHIP NM_017934.6(PHIP): c.2902C> T (p.Arg968Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200788163 GRCh37 Chromosome 6, 79680593: 79680593
7 PHIP NM_017934.6(PHIP): c.2902C> T (p.Arg968Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200788163 GRCh38 Chromosome 6, 78970876: 78970876
8 PHIP NM_017934.6(PHIP): c.298_299del (p.Leu100Ilefs) deletion Pathogenic GRCh38 Chromosome 6, 79060709: 79060710
9 PHIP NM_017934.6(PHIP): c.298_299del (p.Leu100Ilefs) deletion Pathogenic GRCh37 Chromosome 6, 79770426: 79770427
10 PHIP NM_017934.6(PHIP): c.328C> A (p.Arg110Ser) single nucleotide variant Pathogenic rs768324201 GRCh38 Chromosome 6, 79060680: 79060680
11 PHIP NM_017934.6(PHIP): c.328C> A (p.Arg110Ser) single nucleotide variant Pathogenic rs768324201 GRCh37 Chromosome 6, 79770397: 79770397
12 PHIP NM_017934.6(PHIP): c.3571C> T (p.Gln1191Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 78961775: 78961775
13 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
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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