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Gastrointestinal Diseases (D005767)
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Intellectual Disability (D008607)
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Pain (D010146)
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Psychomotor Disorders (D011596)
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INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)

       Child Nodes:



 Sister Nodes: 
..expandAL-RAQAD SYNDROME (OMIM:616459)
..expandALAZAMI-YUAN SYNDROME (OMIM:617126)
..expandAniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation (C000598722)
..expandApraxias (D001072) Child10
..expandASPARAGINE SYNTHETASE DEFICIENCY (OMIM:615574)
..expandBAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
..expandBASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
..expandBowen-Conradi syndrome (C537081)
..expandC SYNDROME (OMIM:211750)
..expandCEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION (OMIM:616875)
..expandCHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION (OMIM:616939)
..expandCHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..expandCLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES (OMIM:616728)
..expandCONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (OMIM:614482)
..expandDe Hauwere Leroy Adriaenssens syndrome (C535991)
..expandDevelopmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..expandDiaminopentanuria (C565630)
..expandDystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..expandEdinburgh Malformation Syndrome (C563051)
..expandFumaric aciduria (C538191)
..expandGenitopatellar Syndrome (C565255)
..expandGrowth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..expandHAREL-YOON SYNDROME (OMIM:617183)
..expandHEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION (OMIM:616816)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
..expandHYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES (OMIM:617452)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD (OMIM:617450)
..expandINTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
..expandKEPPEN-LUBINSKY SYNDROME (OMIM:614098)
..expandKozlowski Rafinski Klicharska syndrome (C537509)
..expandMacDermot Winter syndrome (C537714)
..expandMACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
..expandMegarbane syndrome (C536145)
..expandMITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)  LSDB  L: 00041;
..expandMyelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..expandOGDEN SYNDROME (OMIM:300855)
..expandOKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:617062)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPHOSPHOSERINE PHOSPHATASE DEFICIENCY (OMIM:614023)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandPsychomotor Agitation (D011595) Child1
..expandTHAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandVERHEIJ SYNDROME (OMIM:615583)
..expandZTTK SYNDROME (OMIM:617140)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6416
Name:INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
Definition:
Alternative IDs:
ParentIDs:MESH:D005767|MESH:D008607|MESH:D010146|MESH:D011596
TreeNumbers:C06.405/617450 |C10.597.606.360/617450 |C10.597.606.881/617450 |C23.888.592.604.646/617450 |C23.888.592.604.882/617450 |C23.888.592.612/617450 |F03.625.539/617450
Synonyms:IDDGIP
Slim Mappings:Digestive system disease|Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: 617450
MeSH: 617450
OMIM: 617450;
MSeqDR LSDB:  
Genes: LHCGR;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000463Anteverted nares
3 HP:0000739Anxiety
NAMDC:  Anxiety
4 HP:0007018Attention deficit hyperactivity disorder
5 HP:0000729Autistic behavior
6 HP:0001156Brachydactyly
7 HP:0000337Broad forehead
8 HP:0002136Broad-based gait
9 HP:0002019Constipation
10 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
11 HP:0011968Feeding difficulties
12 HP:0002020Gastroesophageal reflux
13 HP:0001290Generalized hypotonia
14 HP:0001263Global developmental delay
NAMDC:  Mental retardation
15 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
16 HP:0003307Hyperlordosis
17 HP:0000540Hypermetropia
18 HP:0001249Intellectual disability
19 HP:0000369Low-set ears
20 HP:0000722Obsessive-compulsive behavior
21 HP:0000358Posteriorly rotated ears
22 HP:0001773Short foot
23 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
24 HP:0200055Small hand
25 HP:0001792Small nail
26 HP:0000486Strabismus
27 HP:0000219Thin upper lip vermilion
28 HP:0002013Vomiting
29 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003620.3(PPM1D):c.1216del (p.Thr406fs)8493PPM1DPathogenicrs747947002RCV000488009|RCV000622478; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450|MeSH:D030342,MedGen:C0950123175873415658734156GAG17:g.58734156_58734156delOMIM:605100.0002,ClinGen:CA16621550
NM_003620.3(PPM1D):c.1221T>A (p.Cys407Ter)8493PPM1DPathogenicrs189669693RCV000487815; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175873416358734163TA17:g.58734163T>AClinGen:CA8687691,OMIM:605100.0001C4479517 617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold;
NM_003620.3(PPM1D):c.1237_1238del (p.Pro413fs)8493PPM1DLikely pathogenicrs1555648565RCV000513576|RCV001175329; NMedGen:CN517202|MONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175873417758734178TCCT17:g.58734177_58734178delClinGen:CA658653843CN517202 not provided;
NM_003620.3(PPM1D):c.1248_1252del (p.Pro417fs)8493PPM1DPathogenicrs1567977657RCV000767536; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175873418858734192TACACCT17:g.58734188_58734192del-
NM_003620.3(PPM1D):c.1250dup (p.Pro418fs)8493PPM1DPathogenicrs1064797100RCV000488173; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175873419058734191AAC17:g.58734190_58734191insCClinGen:CA16621553,OMIM:605100.0005
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)8493PPM1DPathogenicrs1598413570RCV000791346; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175873419958734200CCA17:g.58734199_58734200insA-
NM_003620.3(PPM1D):c.1270dup (p.Glu424fs)8493PPM1DPathogenicrs1064797098RCV000488394; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874036358740364AAG17:g.58740363_58740364insGClinGen:CA16621551,OMIM:605100.0003
NM_003620.3(PPM1D):c.1277del (p.Pro426fs)8493PPM1DLikely pathogenicrs1555649009RCV000677666; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874037158740371TCT17:g.58740371_58740371del-
NM_003620.3(PPM1D):c.1281G>A (p.Trp427Ter)8493PPM1DPathogenicrs1064797099RCV000487769; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874037658740376GA17:g.58740376G>AClinGen:CA16621552,OMIM:605100.0004C4479517 617450 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold;
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)8493PPM1DPathogenic-1RCV001261951; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874048358740484GTA17:g.58740484_58740484del-
NM_003620.4(PPM1D):c.1606del (p.Arg536fs)8493PPM1DLikely pathogenic-1RCV001253357; NMONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874069858740698TAT17:g.58740698_58740698del-
NM_003620.3(PPM1D):c.1654C>T (p.Arg552Ter)8493PPM1DLikely pathogenicrs779070661RCV000760458|RCV001194426; NMedGen:CN517202|MONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874074958740749CT17:g.58740749C>T-
NM_003620.3(PPM1D):c.1714C>T (p.Arg572Ter)8493PPM1DConflicting interpretations of pathogenicityrs765769406RCV000657771|RCV000767346; NMedGen:CN517202|MONDO:MONDO:0044318,MedGen:C4479517,OMIM:617450175874080958740809CT17:g.58740809C>T-CN517202 not provided;
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