CPRF
MCID: CLF048
MIFTS: 21

Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features (CPRF)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

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 58 76 30 6
Cprf 58 76
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome 60
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cleft palate, psychomotor retardation, and distinctive facial features:
Inheritance autosomal dominant inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features is KDM1A (Lysine Demethylase 1A). Related phenotypes are synophrys and supernumerary nipple

Description from OMIM: 616728

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

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

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

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
prominent forehead

Head And Neck Nose:
wide nasal bridge

Skeletal Skull:
brachycephaly

Neurologic Central Nervous System:
delayed myelination
developmental delay
hypotonia
speech delay
macrocerebellum
more
Skeletal Hands:
fifth finger clinodactyly
short thumbs
tapered fingers

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

Growth Height:
birth length greater than 90%

Chest Breasts:
supernumerary nipple (in some patients)

Head And Neck Teeth:
widely spaced teeth

Head And Neck Head:
brachycephaly
macrocephaly (in some patients)

Skeletal Feet:
hypoplastic toenails
calcaneal valgus

Head And Neck Eyes:
downslanting palpebral fissures
arched eyebrows
exotropia (in some patients)
synophrys (in some patients)

Head And Neck Mouth:
thin upper lip
palatal anomalies

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Head And Neck Ears:
small, low-set ears (in some patients)

Clinical features from OMIM:

616728

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

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 30 KDM1A

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

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

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

# Title Authors Year
1
CPRF4a, a novel plant bZIP protein of the CPRF family: comparative analyses of light-dependent expression, post-transcriptional regulation, nuclear import and heterodimerisation. ( 9604882 )
1998

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

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

76
# 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.2353T> C (p.Tyr785His) single nucleotide variant Pathogenic rs864309714 GRCh38 Chromosome 1, 23082274: 23082274
3 KDM1A NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh37 Chromosome 1, 23395059: 23395059
4 KDM1A NM_001009999.2(KDM1A): c.1207G> A (p.Glu403Lys) single nucleotide variant Pathogenic rs864309715 GRCh38 Chromosome 1, 23068566: 23068566
5 KDM1A NM_001009999.2(KDM1A): c.1739A> G (p.Asp580Gly) single nucleotide variant Pathogenic rs864309716 GRCh37 Chromosome 1, 23403725: 23403725
6 KDM1A NM_001009999.2(KDM1A): c.1739A> G (p.Asp580Gly) single nucleotide variant Pathogenic rs864309716 GRCh38 Chromosome 1, 23077232: 23077232
7 KDM1A NM_001009999.2(KDM1A): c.1720A> G (p.Lys574Glu) single nucleotide variant Uncertain significance rs1553131717 GRCh37 Chromosome 1, 23399882: 23399882
8 KDM1A NM_001009999.2(KDM1A): c.1720A> G (p.Lys574Glu) single nucleotide variant Uncertain significance rs1553131717 GRCh38 Chromosome 1, 23073389: 23073389

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.

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

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

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

3 CDC
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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