MCID: PSY014
MIFTS: 18

Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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 57 75 29 13 6 40 73
Pmred 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
psychomotor retardation, epilepsy, and craniofacial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

UniProtKB/Swiss-Prot : 75 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 seizures and eeg abnormality

Description from OMIM: 614501

Related Diseases for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
umbilical hernia

Neurologic Central Nervous System:
ventriculomegaly
hyporeflexia
hypomyelination
abnormal eeg
lack of speech development
more
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

Head And Neck Mouth:
wide mouth
large tongue

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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 eeg abnormality 32 HP:0002353
3 macroglossia 32 HP:0000158
4 global developmental delay 32 HP:0001263
5 umbilical hernia 32 HP:0001537
6 abnormal facial shape 32 HP:0001999
7 broad thumb 32 HP:0011304
8 feeding difficulties 32 HP:0011968
9 strabismus 32 HP:0000486
10 short palm 32 HP:0004279
11 bicuspid aortic valve 32 HP:0001647
12 ventriculomegaly 32 HP:0002119
13 wide mouth 32 HP:0000154
14 bulbous nose 32 HP:0000414
15 hyporeflexia 32 HP:0001265
16 horizontal nystagmus 32 HP:0000666
17 tapered finger 32 HP:0001182
18 hypoplasia of the corpus callosum 32 HP:0002079
19 aortic valve stenosis 32 HP:0001650
20 broad jaw 32 HP:0012802
21 generalized hypotonia 32 HP:0001290
22 cns hypomyelination 32 HP:0003429
23 subglottic stenosis 32 HP:0001607

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:

41
Tongue

Publications for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

75
# Symbol AA change Variation ID SNP ID
1 SNIP1 p.Glu366Gly VAR_067542 rs387906986

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SNIP1 NM_024700.3(SNIP1): c.1097A> G (p.Glu366Gly) single nucleotide variant Pathogenic rs387906986 GRCh37 Chromosome 1, 38003443: 38003443
2 SNIP1 NM_024700.3(SNIP1): c.1097A> G (p.Glu366Gly) single nucleotide variant Pathogenic rs387906986 GRCh38 Chromosome 1, 37537842: 37537842

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 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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