CPRF
MCID: CLF048
MIFTS: 28

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 57 72 36 29 6
Cprf 57 72
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome 58
Palatal Anomalies-Multiple Diastemata-Facial Dysmorphism-Developmental Delay Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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

KEGG : 36 Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) is a new genetic disorder that phenotypically resembles the Kabuki syndrome [DS:H00570] but with distinctive facial features, skeletal anomalies and, cognitive impairment. It has been reported that de novo mutations in KDM1A cause this disease. KDM1A is a histone demethylase that has been shown to play diverse and key roles in regulating gene expression during development.

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), and among its related pathways/superpathways is Thermogenesis. Affiliated tissues include cerebellum and brain, and related phenotypes are global developmental delay and widely spaced teeth

UniProtKB/Swiss-Prot : 72 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.

More information 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:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
2 widely spaced teeth 58 31 very rare (1%) Frequent (79-30%) HP:0000687
3 wide nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000431
4 delayed speech and language development 58 31 very rare (1%) Frequent (79-30%) HP:0000750
5 prominent forehead 58 31 very rare (1%) Frequent (79-30%) HP:0011220
6 downslanted palpebral fissures 58 31 very rare (1%) Frequent (79-30%) HP:0000494
7 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
8 thin upper lip vermilion 58 31 very rare (1%) Frequent (79-30%) HP:0000219
9 abnormal palate morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000174
10 exotropia 58 31 very rare (1%) Frequent (79-30%) HP:0000577
11 abnormality of canine 58 31 frequent (33%) Frequent (79-30%) HP:0011078
12 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
13 hypotonia 31 frequent (33%) HP:0001252
14 macrocephaly 58 31 very rare (1%) Occasional (29-5%) HP:0000256
15 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
16 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 anteverted nares 58 31 very rare (1%) Occasional (29-5%) HP:0000463
18 cryptorchidism 58 31 very rare (1%) Occasional (29-5%) HP:0000028
19 hypoplastic toenails 58 31 very rare (1%) Occasional (29-5%) HP:0001800
20 clinodactyly of the 5th finger 58 31 very rare (1%) Occasional (29-5%) HP:0004209
21 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
22 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
23 short thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009778
24 high anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009890
25 blue sclerae 58 31 very rare (1%) Occasional (29-5%) HP:0000592
26 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
27 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
28 hypoplasia of the corpus callosum 58 31 very rare (1%) Occasional (29-5%) HP:0002079
29 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
30 colpocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0030048
31 sparse eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0045075
32 oculomotor apraxia 58 31 very rare (1%) Occasional (29-5%) HP:0000657
33 cerebral white matter hypoplasia 58 31 very rare (1%) Occasional (29-5%) HP:0012430
34 enlarged cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0012081
35 chordee 58 31 very rare (1%) Occasional (29-5%) HP:0000041
36 patent foramen ovale 58 31 occasional (7.5%) Occasional (29-5%) HP:0001655
37 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
38 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
39 narrow nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0011832
40 lower limb hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006895
41 ptosis 31 very rare (1%) HP:0000508
42 constipation 31 very rare (1%) HP:0002019
43 short stature 31 very rare (1%) HP:0004322
44 brachycephaly 31 very rare (1%) HP:0000248
45 joint hypermobility 31 very rare (1%) HP:0001382
46 downturned corners of mouth 31 very rare (1%) HP:0002714
47 tethered cord 31 very rare (1%) HP:0002144
48 feeding difficulties 31 very rare (1%) HP:0011968
49 syringomyelia 31 very rare (1%) HP:0003396
50 delayed cns myelination 31 very rare (1%) HP:0002188

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
prominent forehead

Head And Neck Nose:
wide nasal bridge

Skeletal Skull:
brachycephaly

Neurologic Central Nervous System:
delayed myelination
hypotonia
developmental delay
speech delay
macrocerebellum
more
Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal Hands:
fifth finger clinodactyly
short thumbs
tapered fingers

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 Mouth:
thin upper lip
palatal anomalies

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

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

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

Clinical features from OMIM®:

616728 (Updated 05-Apr-2021)

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 29 KDM1A

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

MalaCards organs/tissues related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features:

40
Cerebellum, Brain

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

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

(show all 17)
# Title Authors PMID Year
1
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. 6 57
26656649 2016
2
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. 57 6
24838796 2014
3
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 57
23020937 2012
4
A Cassava CPRF-2-like bZIP Transcription Factor Showed Increased Transcript Levels during Light Treatment. 61
32310038 2020
5
Outcome of pubic rami fractures with or without concomitant involvement of the posterior ring in elderly patients. 61
29947849 2019
6
Effects of glutamate receptor agonists on the p13 auditory evoked potential and startle response in the rat. 61
21441978 2011
7
Pontine reticular formation neurons are implicated in the neuronal network for generalized clonic seizures which is intensified by audiogenic kindling. 61
16336948 2005
8
Characterization of novel antimicrobial peptides from the skins of frogs of the Rana esculenta complex. 61
14499272 2003
9
Identification of the requisite brain sites in the neuronal network subserving generalized clonic audiogenic seizures. 61
12650972 2003
10
The DNA binding properties of the parsley bZIP transcription factor CPRF4a are regulated by light. 61
11106651 2001
11
Transactivation properties of parsley proline-rich bZIP transcription factors. 61
10792815 2000
12
Nuclear import of the parsley bZIP transcription factor CPRF2 is regulated by phytochrome photoreceptors. 61
9922448 1999
13
CPRF4a, a novel plant bZIP protein of the CPRF family: comparative analyses of light-dependent expression, post-transcriptional regulation, nuclear import and heterodimerisation. 61
9604882 1998
14
The cysteine proteinase gene cprG in Dictyostelium discoideum has a serine-rich domain that contains GlcNAc-1-P. 61
9056234 1997
15
Purkinje cell density in cerebella of alcoholized and non-alcoholized male rat offspring. 61
7858402 1994
16
Homodimeric and heterodimeric leucine zipper proteins and nuclear factors from parsley recognize diverse promoter elements with ACGT cores. 61
1498607 1992
17
Light-inducible and constitutively expressed DNA-binding proteins recognizing a plant promoter element with functional relevance in light responsiveness. 61
2050115 1991

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KDM1A NM_001009999.3(KDM1A):c.1207G>A (p.Glu403Lys) SNV Pathogenic 218912 rs864309715 GRCh37: 1:23395059-23395059
GRCh38: 1:23068566-23068566
2 KDM1A NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) SNV Pathogenic 218913 rs864309716 GRCh37: 1:23403725-23403725
GRCh38: 1:23077232-23077232
3 KDM1A NM_001009999.3(KDM1A):c.2353T>C (p.Tyr785His) SNV Pathogenic 218911 rs864309714 GRCh37: 1:23408767-23408767
GRCh38: 1:23082274-23082274
4 KDM1A NM_001009999.3(KDM1A):c.131T>C (p.Leu44Pro) SNV Uncertain significance 1028439 GRCh37: 1:23346220-23346220
GRCh38: 1:23019727-23019727
5 KDM1A NM_001009999.3(KDM1A):c.278C>A (p.Ser93Tyr) SNV Uncertain significance 1028440 GRCh37: 1:23346367-23346367
GRCh38: 1:23019874-23019874
6 KDM1A NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu) SNV Uncertain significance 545570 rs1553131717 GRCh37: 1:23399882-23399882
GRCh38: 1:23073389-23073389
7 KDM1A NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser) SNV Uncertain significance 931593 GRCh37: 1:23346225-23346225
GRCh38: 1:23019732-23019732
8 KDM1A NM_001009999.3(KDM1A):c.1975C>T (p.Pro659Ser) SNV Uncertain significance 992449 GRCh37: 1:23405590-23405590
GRCh38: 1:23079097-23079097

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

72
# 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

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...

Pathways related to Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features according to KEGG:

36
# Name Kegg Source Accession
1 Thermogenesis hsa04714

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....