Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CLF048 MIFTS: 21	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features Categories: Genetic diseases, Oral diseases, Neuronal diseases, Fetal diseases, Rare diseases
Genes Variations Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

MalaCards integrated aliases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

Name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ⁵³ ⁷¹ ²⁸

Cprf ⁵³ ⁷¹

Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome ⁵⁵

Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome ⁵⁵

Characteristics:

OMIM:

⁵³

Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
three patients have been described (last curated january 2016)

HPO:

³¹

cleft palate, psychomotor retardation, and distinctive facial features:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Oral diseases Neuronal diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁵

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵³ 616728

Orphanet ⁵⁵ ORPHA477993

MedGen ³⁹ C4225229 CN234733

MeSH ⁴¹ D002972

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Summaries for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

UniProtKB/Swiss-Prot : ⁷¹ Cleft palate, psychomotor retardation, and distinctive facial features: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion.

MalaCards based summary : Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features, is also known as cprf, and has symptoms including constipation, macrocephaly and frontal bossing. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A).

Description from OMIM: 616728

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Related Diseases for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Symptoms & Phenotypes for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Symptoms via clinical synopsis from OMIM:

⁵³

HeadAndNeckFace:
frontal bossing
prominent forehead

HeadAndNeckNose:
wide nasal bridge

SkeletalSkull:
brachycephaly

NeurologicCentralNervousSystem:
delayed myelination
developmental delay
hypotonia
speech delay
macrocerebellum
more

SkeletalHands:
fifth finger clinodactyly
short thumbs
tapered fingers

GrowthWeight:
short stature (in some patients)
birth weight greater than 97%

GrowthHeight:
birth length greater than 90%

ChestBreasts:
supernumerary nipple (in some patients)

HeadAndNeckTeeth:
widely spaced teeth

HeadAndNeckHead:
brachycephaly
macrocephaly (in some patients)

SkeletalFeet:
hypoplastic toenails
calcaneal valgus

HeadAndNeckEyes:
downslanting palpebral fissures
exotropia (in some patients)
arched eyebrows
synophrys (in some patients)

HeadAndNeckMouth:
thin upper lip
palatal anomalies

GenitourinaryInternalGenitaliaMale:
cryptorchidism (in some patients)

HeadAndNeckEars:
small, low-set ears (in some patients)

Clinical features from OMIM:

616728

Human phenotypes related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

³¹ (show all 38)

#	Description	HPO Frequency	HPO Source Accession
1	constipation ³¹	very rare (1%)	HP:0002019
2	macrocephaly ³¹	very rare (1%)	HP:0000256
3	frontal bossing ³¹		HP:0002007
4	ptosis ³¹	very rare (1%)	HP:0000508
5	widely spaced teeth ³¹	very rare (1%)	HP:0000687
6	global developmental delay ³¹	very rare (1%)	HP:0001263
7	wide nasal bridge ³¹	very rare (1%)	HP:0000431
8	delayed speech and language development ³¹	very rare (1%)	HP:0000750
9	abnormal vertebral morphology ³¹		HP:0003468
10	anteverted nares ³¹	very rare (1%)	HP:0000463
11	short stature ³¹	very rare (1%)	HP:0004322
12	brachycephaly ³¹	very rare (1%)	HP:0000248
13	prominent forehead ³¹	very rare (1%)	HP:0011220
14	feeding difficulties ³¹	very rare (1%)	HP:0011968
15	cryptorchidism ³¹	very rare (1%)	HP:0000028
16	hypoplastic toenails ³¹	very rare (1%)	HP:0001800
17	clinodactyly of the 5th finger ³¹	very rare (1%)	HP:0004209
18	joint hypermobility ³¹	very rare (1%)	HP:0001382
19	downslanted palpebral fissures ³¹	very rare (1%)	HP:0000494
20	downturned corners of mouth ³¹	very rare (1%)	HP:0002714
21	thin upper lip vermilion ³¹	very rare (1%)	HP:0000219
22	highly arched eyebrow ³¹		HP:0002553
23	synophrys ³¹	occasional (7.5%)	HP:0000664
24	blue sclerae ³¹	very rare (1%)	HP:0000592
25	tapered finger ³¹		HP:0001182
26	motor delay ³¹		HP:0001270
27	hypoplasia of the corpus callosum ³¹	very rare (1%)	HP:0002079
28	supernumerary nipple ³¹	occasional (7.5%)	HP:0002558
29	oculomotor apraxia ³¹	very rare (1%)	HP:0000657
30	generalized hypotonia ³¹		HP:0001290
31	exotropia ³¹	very rare (1%)	HP:0000577
32	short thumb ³¹		HP:0009778
33	chordee ³¹	very rare (1%)	HP:0000041
34	syringomyelia ³¹	very rare (1%)	HP:0003396
35	delayed cns myelination ³¹	very rare (1%)	HP:0002188
36	cerebral white matter hypoplasia ³¹	very rare (1%)	HP:0012430
37	tethered cord ³¹	very rare (1%)	HP:0002144
38	lower limb hypertonia ³¹		HP:0006895

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Drugs & Therapeutics for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Search Clinical Trials , NIH Clinical Center for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features

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Genetic Tests for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Genetic tests related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

#	Genetic test	Affiliating Genes
1	Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features ²⁸	KDM1A

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Anatomical Context for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Publications for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Genes for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Genes related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	KDM1A	Lysine Demethylase 1A	Protein Coding	1680.53	Molecular basis known ⁵³ Pathogenic ⁶ Causative germline mutation ⁵⁵ Causative variation ⁷¹ Genetic Tests ²⁸ GeneCards inferred via : Disorders Variants (show sections)	26656649 23020937 24838796

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Variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

UniProtKB/Swiss-Prot genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

⁷¹

#	Symbol	AA change	Variation ID	SNP ID
1	KDM1A	p.Glu379Lys	VAR_076366	rs864309715
2	KDM1A	p.Asp556Gly	VAR_076367	rs864309716
3	KDM1A	p.Tyr761His	VAR_076368	rs864309714

ClinVar genetic disease variations for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KDM1A	NM_001009999.2(KDM1A): c.2353T> C (p.Tyr785His)	single nucleotide variant	Pathogenic	rs864309714	GRCh37	Chromosome 1, 23408767: 23408767
2	KDM1A	NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys)	single nucleotide variant	Pathogenic	rs864309715	GRCh37	Chromosome 1, 23395059: 23395059

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Expression for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

Search GEO for disease gene expression data for Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features.

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Pathways for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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GO Terms for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

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Sources for Cleft Palate, Psychomotor Retardation, and Distinctive Facial...

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia