MCID: INT314
MIFTS: 17

Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

Categories: Genetic diseases, Gastrointestinal diseases

Aliases & Classifications for Intellectual Developmental Disorder with Gastrointestinal...

MalaCards integrated aliases for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:

Name: Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold 57 75 6
Iddgip 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable features


HPO:

32
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Gastrointestinal...

UniProtKB/Swiss-Prot : 75 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold: An autosomal dominant neurodevelopmental disorder characterized by mild to severe intellectual disability, psychomotor developmental delay, speech delay, and behavioral manifestations including attention deficit-hyperactivity disorder, autism and anxiety disorders. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold, hypersensitivity to sound, hypotonia, broad-based gait, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet.

MalaCards based summary : Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold, is also known as iddgip. An important gene associated with Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold is PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D). Related phenotypes are wide mouth and thin upper lip vermilion

OMIM : 57 IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017). (617450)

Related Diseases for Intellectual Developmental Disorder with Gastrointestinal...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Gastrointestinal...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
feeding difficulties
recurrent vomiting

Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
anxiety
obsessive-compulsive disorder
attention deficit-hyperactivity disorder
autism spectrum disorder
sensory integration problems

Skeletal Hands:
small hand
brachydactyly

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
small feet

Neurologic Central Nervous System:
intellectual disability
broad-based gait
language delay
delayed psychomotor development
high pain threshold
more
Skeletal Spine:
hyperlordosis

Head And Neck Eyes:
strabismus
hypermetropia

Head And Neck Face:
broad forehead

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Mouth:
thin upper lip
broad mouth

Head And Neck Nose:
upturned nose


Clinical features from OMIM:

617450

Human phenotypes related to Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 wide mouth 32 HP:0000154
2 thin upper lip vermilion 32 HP:0000219
3 broad forehead 32 HP:0000337
4 posteriorly rotated ears 32 HP:0000358
5 low-set ears 32 HP:0000369
6 anteverted nares 32 HP:0000463
7 strabismus 32 HP:0000486
8 hypermetropia 32 HP:0000540
9 obsessive-compulsive behavior 32 HP:0000722
10 autistic behavior 32 HP:0000729
11 anxiety 32 HP:0000739
12 delayed speech and language development 32 HP:0000750
13 brachydactyly 32 HP:0001156
14 intellectual disability 32 HP:0001249
15 global developmental delay 32 HP:0001263
16 generalized hypotonia 32 HP:0001290
17 short foot 32 HP:0001773
18 small nail 32 HP:0001792
19 vomiting 32 HP:0002013
20 constipation 32 HP:0002019
21 gastroesophageal reflux 32 HP:0002020
22 broad-based gait 32 HP:0002136
23 hyperlordosis 32 HP:0003307
24 short stature 32 HP:0004322
25 attention deficit hyperactivity disorder 32 HP:0007018
26 feeding difficulties 32 HP:0011968
27 small hand 32 HP:0200055

Drugs & Therapeutics for Intellectual Developmental Disorder with Gastrointestinal...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold

Genetic Tests for Intellectual Developmental Disorder with Gastrointestinal...

Anatomical Context for Intellectual Developmental Disorder with Gastrointestinal...

Publications for Intellectual Developmental Disorder with Gastrointestinal...

Variations for Intellectual Developmental Disorder with Gastrointestinal...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPM1D NM_003620.3(PPM1D): c.1221T> A (p.Cys407Ter) single nucleotide variant Pathogenic rs189669693 GRCh37 Chromosome 17, 58734163: 58734163
2 PPM1D NM_003620.3(PPM1D): c.1221T> A (p.Cys407Ter) single nucleotide variant Pathogenic rs189669693 GRCh38 Chromosome 17, 60656802: 60656802
3 PPM1D NM_003620.3(PPM1D): c.1216delA (p.Thr406Profs) deletion Pathogenic rs1064797097 GRCh38 Chromosome 17, 60656797: 60656797
4 PPM1D NM_003620.3(PPM1D): c.1216delA (p.Thr406Profs) deletion Pathogenic rs1064797097 GRCh37 Chromosome 17, 58734158: 58734158
5 PPM1D NM_003620.3(PPM1D): c.1270dup (p.Glu424Glyfs) duplication Pathogenic rs1064797098 GRCh38 Chromosome 17, 60663004: 60663004
6 PPM1D NM_003620.3(PPM1D): c.1270dup (p.Glu424Glyfs) duplication Pathogenic rs1064797098 GRCh37 Chromosome 17, 58740365: 58740365
7 PPM1D NM_003620.3(PPM1D): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1064797099 GRCh37 Chromosome 17, 58740376: 58740376
8 PPM1D NM_003620.3(PPM1D): c.1281G> A (p.Trp427Ter) single nucleotide variant Pathogenic rs1064797099 GRCh38 Chromosome 17, 60663015: 60663015
9 PPM1D NM_003620.3(PPM1D): c.1250dup (p.Pro418Thrfs) duplication Pathogenic rs1064797100 GRCh38 Chromosome 17, 60656831: 60656831
10 PPM1D NM_003620.3(PPM1D): c.1250dup (p.Pro418Thrfs) duplication Pathogenic rs1064797100 GRCh37 Chromosome 17, 58734192: 58734192

Expression for Intellectual Developmental Disorder with Gastrointestinal...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Gastrointestinal Difficulties and High Pain Threshold.

Pathways for Intellectual Developmental Disorder with Gastrointestinal...

GO Terms for Intellectual Developmental Disorder with Gastrointestinal...

Sources for Intellectual Developmental Disorder with Gastrointestinal...

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