PMRED
MCID: PSY014
MIFTS: 18

Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism (PMRED)

Categories: Genetic diseases

Aliases & Classifications for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

MalaCards integrated aliases for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

Name: Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 56 73 29 13 6 39 71
Pmred 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
three amish patients have been reported (as of february 2012)


HPO:

31
psychomotor retardation, epilepsy, and craniofacial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

UniProtKB/Swiss-Prot : 73 Psychomotor retardation, epilepsy, and craniofacial dysmorphism: A disease characterized by severe psychomotor retardation, intractable seizures, dysmorphic features, and a lumpy skull surface. Patients are hypotonic and have poor feeding in the neonatal period.

MalaCards based summary : Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism, is also known as pmred. An important gene associated with Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism is SNIP1 (Smad Nuclear Interacting Protein 1). Affiliated tissues include tongue, and related phenotypes are macroglossia and global developmental delay

More information from OMIM: 614501

Related Diseases for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Symptoms & Phenotypes for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Human phenotypes related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 HP:0000158
2 global developmental delay 31 HP:0001263
3 umbilical hernia 31 HP:0001537
4 abnormal facial shape 31 HP:0001999
5 broad thumb 31 HP:0011304
6 eeg abnormality 31 HP:0002353
7 feeding difficulties 31 HP:0011968
8 strabismus 31 HP:0000486
9 bicuspid aortic valve 31 HP:0001647
10 wide mouth 31 HP:0000154
11 ventriculomegaly 31 HP:0002119
12 bulbous nose 31 HP:0000414
13 hyporeflexia 31 HP:0001265
14 tapered finger 31 HP:0001182
15 hypoplasia of the corpus callosum 31 HP:0002079
16 broad jaw 31 HP:0012802
17 short palm 31 HP:0004279
18 aortic valve stenosis 31 HP:0001650
19 generalized hypotonia 31 HP:0001290
20 subglottic stenosis 31 HP:0001607
21 horizontal nystagmus 31 HP:0000666
22 cns hypomyelination 31 HP:0003429
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
umbilical hernia

Head And Neck Mouth:
wide mouth
large tongue

Head And Neck Nose:
bulbous nose

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
aortic stenosis (variable)
bicuspid aortic valve (variable)

Abdomen Gastrointestinal:
poor feeding (neonatal period)

Head And Neck Eyes:
strabismus
horizontal nystagmus

Neurologic Central Nervous System:
ventriculomegaly
hyporeflexia
hypomyelination
abnormal eeg
lack of speech development
more
Head And Neck Face:
broad jaw

Skeletal Hands:
short hands
broad thumbs
short, tapered fingers

Respiratory Larynx:
subglottic stenosis (variable)

Skeletal Skull:
lumpy skull surface

Clinical features from OMIM:

614501

Drugs & Therapeutics for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Search Clinical Trials , NIH Clinical Center for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Genetic Tests for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Genetic tests related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

# Genetic test Affiliating Genes
1 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 29 SNIP1

Anatomical Context for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

MalaCards organs/tissues related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

40
Tongue

Publications for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Articles related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

# Title Authors PMID Year
1
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6 56
22279524 2012

Variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

ClinVar genetic disease variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNIP1 NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly)SNV Pathogenic 30717 rs387906986 1:38003443-38003443 1:37537842-37537842

UniProtKB/Swiss-Prot genetic disease variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism:

73
# Symbol AA change Variation ID SNP ID
1 SNIP1 p.Glu366Gly VAR_067542 rs387906986

Expression for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Search GEO for disease gene expression data for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism.

Pathways for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

GO Terms for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Sources for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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