CPPRDD
MCID: CLF057
MIFTS: 16

Cleft Palate, Proliferative Retinopathy, and Developmental Delay (CPPRDD)

Categories: Genetic diseases

Aliases & Classifications for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

MalaCards integrated aliases for Cleft Palate, Proliferative Retinopathy, and Developmental Delay:

Name: Cleft Palate, Proliferative Retinopathy, and Developmental Delay 57 6
Cpprdd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of a sister and brother and an unrelated boy (last curated october 2020)


HPO:

31
cleft palate, proliferative retinopathy, and developmental delay:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

OMIM® : 57 Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) is characterized by motor and speech delay, with intellectual disability ranging from mild to severe. Brain imaging shows ventriculomegaly as well as other malformations (Harel et al., 2019). (619074) (Updated 05-Apr-2021)

MalaCards based summary : Cleft Palate, Proliferative Retinopathy, and Developmental Delay, also known as cpprdd, is related to cleft palate, isolated. An important gene associated with Cleft Palate, Proliferative Retinopathy, and Developmental Delay is LRRC32 (Leucine Rich Repeat Containing 32). Related phenotypes are sleep apnea and hearing impairment

Related Diseases for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Diseases related to Cleft Palate, Proliferative Retinopathy, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.3

Symptoms & Phenotypes for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Human phenotypes related to Cleft Palate, Proliferative Retinopathy, and Developmental Delay:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 sleep apnea 31 very rare (1%) HP:0010535
2 hearing impairment 31 very rare (1%) HP:0000365
3 global developmental delay 31 very rare (1%) HP:0001263
4 delayed speech and language development 31 very rare (1%) HP:0000750
5 strabismus 31 very rare (1%) HP:0000486
6 cleft palate 31 very rare (1%) HP:0000175
7 intrauterine growth retardation 31 very rare (1%) HP:0001511
8 micrognathia 31 very rare (1%) HP:0000347
9 myopia 31 very rare (1%) HP:0000545
10 ventriculomegaly 31 very rare (1%) HP:0002119
11 short philtrum 31 very rare (1%) HP:0000322
12 midface retrusion 31 very rare (1%) HP:0011800
13 partial agenesis of the corpus callosum 31 very rare (1%) HP:0001338
14 cerebellar vermis hypoplasia 31 very rare (1%) HP:0001320
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
17 atopic dermatitis 31 very rare (1%) HP:0001047
18 delayed ability to walk 31 very rare (1%) HP:0031936
19 cavum septum pellucidum 31 very rare (1%) HP:0002389
20 retinal neovascularization 31 very rare (1%) HP:0030666

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
cataract
optic atrophy
blindness
high myopia
more
Head And Neck Mouth:
cleft palate

Head And Neck Ears:
hearing loss, combined sensorineural and conductive

Neurologic Central Nervous System:
absent speech
motor delay
dandy-walker malformation
ventriculomegaly
partial agenesis of the corpus callosum
more
Neurologic Peripheral Nervous System:
babinski sign

Respiratory:
sleep apnea, obstructive

Clinical features from OMIM®:

619074 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Search Clinical Trials , NIH Clinical Center for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Genetic Tests for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Anatomical Context for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Publications for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Articles related to Cleft Palate, Proliferative Retinopathy, and Developmental Delay:

# Title Authors PMID Year
1
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay. 61 57 6
30976112 2019

Variations for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

ClinVar genetic disease variations for Cleft Palate, Proliferative Retinopathy, and Developmental Delay:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRC32 NM_001128922.2(LRRC32):c.1630C>T (p.Arg544Ter) SNV Pathogenic 545640 rs369867819 GRCh37: 11:76371007-76371007
GRCh38: 11:76659963-76659963

Expression for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Search GEO for disease gene expression data for Cleft Palate, Proliferative Retinopathy, and Developmental Delay.

Pathways for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

GO Terms for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

Sources for Cleft Palate, Proliferative Retinopathy, and Developmental Delay

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....