Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 614501

MeSH ⁴³ D004827 D011596 D019465

MedGen ⁴¹ C3281055

UMLS ⁷¹ C3281055

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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

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Related Diseases for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

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

³¹ (showing 23, show less)

#	Description	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

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

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

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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

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Anatomical Context for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

⁴⁰

Tongue

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Publications for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

(showing 1, show less)

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

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Genes for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Genes related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism (1 elite genes):

(showing 1, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SNIP1	Smad Nuclear Interacting Protein 1	Protein Coding	1328.27	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	22279524

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Variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

⁶ (showing 1, show less) ‎‎

#	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 (showing 1, show less)

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

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Expression for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

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Pathways for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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GO Terms for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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Sources for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

¹ BioSystems

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²¹ GeneCards

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁶ OMIM

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⁶⁰ PharmGKB

⁶¹ PubMed

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism (PMRED)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

Publications for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

Genes for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

Genes related to Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism (1 elite genes):

Variations for Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism

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

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

Expression 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