CEDNIK
MCID: CRB069
MIFTS: 41

Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome (CEDNIK)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards integrated aliases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

Name: Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 58 54 76 30 13 6 45 41 74
Cednik Syndrome 58 12 54 60 76 38 15
Neurocutaneous Syndromes 45 74
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Palmoplantar Keratoderma Syndrome 60
Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome 12
Cerebral Dysgenesis-Neuropathy-Ichthyosis-Keratoderma Syndrome 77
Cednik 76

Characteristics:

Orphanet epidemiological data:

60
cednik syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

33
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 66631Disease definitionCEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.EpidemiologyIt has been described so far in seven affected individuals (four boys and three girls) from two consanguineous families.Clinical descriptionClinically, the patients display a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.EtiologyIt is caused by mutations in the SNAP29 gene (22q11.2) which encodes a SNARE protein involved in vesicle fusion.Genetic counselingThe disease is inherited as an autosomal recessive condition.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, also known as cednik syndrome, is related to ichthyosis and cutis laxa, autosomal recessive, type iiia. An important gene associated with Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome is SNAP29 (Synaptosome Associated Protein 29), and among its related pathways/superpathways is SNARE interactions in vesicular transport. Affiliated tissues include brain, eye and skin, and related phenotypes are hypertelorism and intellectual disability

Disease Ontology : 12 An autosomal recessive disease that has material basis in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.

OMIM : 58 CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011). (609528)

UniProtKB/Swiss-Prot : 76 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.

Wikipedia : 77 Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome is a cutaneous condition caused by... more...

Related Diseases for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 ichthyosis 30.1 ABCA12 SNAP29
2 cutis laxa, autosomal recessive, type iiia 11.6
3 trichothiodystrophy 4, nonphotosensitive 11.3
4 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 11.1
5 melkersson-rosenthal syndrome 11.0
6 gomez-lopez-hernandez syndrome 11.0
7 phace association 11.0
8 encephalocraniocutaneous lipomatosis 10.3
9 lipomatosis 10.3
10 neuropathy 10.3
11 hypomelanosis of ito 10.2
12 incontinentia pigmenti 10.0
13 ectodermal dysplasia 10.0
14 tuberous sclerosis 10.0
15 neurofibromatosis, type ii 9.8
16 basal cell nevus syndrome 9.8
17 klippel-trenaunay-weber syndrome 9.8
18 neurofibromatosis, type iv, of riccardi 9.8
19 nevus, epidermal 9.8
20 schimmelpenning-feuerstein-mims syndrome 9.8
21 von hippel-lindau syndrome 9.8
22 acrocephalopolydactylous dysplasia 9.8
23 west syndrome 9.8
24 alopecia 9.8
25 human venous malformation 9.8
26 paraganglioma 9.8
27 rhabdomyosarcoma 9.8
28 palmoplantar keratosis 9.8
29 peroneal neuropathy 9.8
30 peripheral nervous system disease 9.8
31 paraplegia 9.8
32 cerebellar agenesis 9.8
33 cutis verticis gyrata 9.8
34 hemimegalencephaly 9.8
35 koone rizzo elias syndrome 9.8
36 phacomatosis pigmentovascularis 9.8
37 spastic paraparesis 9.8
38 spasticity 9.8
39 leukodystrophy, hypomyelinating, 2 9.7 PI4KA SNAP29

Graphical network of the top 20 diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:



Diseases related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Symptoms & Phenotypes for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Human phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
4 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
7 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
8 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
9 long face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000276
10 poor head control 60 33 hallmark (90%) Very frequent (99-80%) HP:0002421
11 diffuse palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007435
12 abnormality of eye movement 60 33 frequent (33%) Frequent (79-30%) HP:0000496
13 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
14 abnormality of peripheral nerve conduction 60 33 frequent (33%) Frequent (79-30%) HP:0003134
15 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
16 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
17 pachygyria 60 33 frequent (33%) Frequent (79-30%) HP:0001302
18 polymicrogyria 60 33 frequent (33%) Frequent (79-30%) HP:0002126
19 abnormal corpus callosum morphology 33 frequent (33%) HP:0001273
20 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
21 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
22 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
23 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
24 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
25 proteinuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0000093
26 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
27 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
28 dolichocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000268
29 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
30 hypogonadism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000135
31 depressed nasal ridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000457
32 stroke 60 33 occasional (7.5%) Occasional (29-5%) HP:0001297
33 muscular hypotonia 33 HP:0001252
34 failure to thrive 33 HP:0001508
35 depressed nasal bridge 33 HP:0005280
36 wide nasal bridge 33 HP:0000431
37 abnormality of the eye 60 Occasional (29-5%)
38 intellectual disability, severe 33 HP:0010864
39 palmoplantar keratoderma 33 HP:0000982
40 intellectual disability, progressive 33 HP:0006887
41 polyneuropathy 33 HP:0001271
42 cortical dysplasia 33 HP:0002539
43 optic disc hypoplasia 33 HP:0007766
44 progressive microcephaly 33 HP:0000253
45 abnormality of the corpus callosum 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia

Neurologic Central Nervous System:
pachygyria
polymicrogyria
cortical dysplasia
poor head control
mental retardation, severe
more
Head And Neck Ears:
sensorineural deafness

Head And Neck Nose:
flat, broad nasal root

Skin Nails Hair Skin:
ichthyosis
palmoplantar keratoderma

Head And Neck Face:
long face

Head And Neck Eyes:
downslanting palpebral fissures
hypoplastic optic discs
hypertelorism, mild

Head And Neck Head:
microcephaly, progressive

Skin Nails Hair Skin Histology:
spinous, granular, and stratum corneum layers contain clear vesicles
abnormal lamellar granule maturation
abnormal distribution of glucosylceramides

Clinical features from OMIM:

609528

GenomeRNAi Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.1 PI4KA
2 Decreased viability GR00231-A 9.1 PI4KA SQSTM1
3 Decreased viability GR00381-A-1 9.1 SQSTM1
4 Decreased viability GR00402-S-2 9.1 PI4KA SQSTM1
5 Condensed cis-Golgi GR00365-A 8.96 PI4KA SQSTM1

MGI Mouse Phenotypes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 ABCA12 EHD1 PI4KA SNAP29 SQSTM1
2 growth/size/body region MP:0005378 9.55 ABCA12 EHD1 PI4KA SNAP29 SQSTM1
3 integument MP:0010771 9.26 ABCA12 PI4KA SNAP29 SQSTM1
4 mortality/aging MP:0010768 9.02 ABCA12 EHD1 PI4KA SNAP29 SQSTM1

Drugs & Therapeutics for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Search Clinical Trials , NIH Clinical Center for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome

Cochrane evidence based reviews: neurocutaneous syndromes

Genetic Tests for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Genetic tests related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

# Genetic test Affiliating Genes
1 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 30 SNAP29

Anatomical Context for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

MalaCards organs/tissues related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

42
Brain, Eye, Skin, Heart

Publications for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Articles related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

# Title Authors Year
1
A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development. ( 30718891 )
2019
2
CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene. ( 30793783 )
2019
3
Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation. ( 26747696 )
2016
4
CEDNIK syndrome results from loss-of-function mutations in SNAP29. ( 21073448 )
2011
5
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. ( 15968592 )
2005

Variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

ClinVar genetic disease variations for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome:

6 (show top 50) (show all 176)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNAP29 SNAP29, 1-BP DEL, 220G deletion Pathogenic
2 SNAP29 NM_004782.3(SNAP29): c.487_488insA (p.Ser163Lysfs) insertion Pathogenic rs387907363 GRCh37 Chromosome 22, 21235389: 21235389
3 SNAP29 NM_004782.3(SNAP29): c.487_488insA (p.Ser163Lysfs) insertion Pathogenic rs387907363 GRCh38 Chromosome 22, 20881101: 20881101
4 SNAP29 NM_004782.3(SNAP29): c.223delG (p.Val75Serfs) deletion Pathogenic rs869312906 GRCh37 Chromosome 22, 21213621: 21213621
5 SNAP29 NM_004782.3(SNAP29): c.223delG (p.Val75Serfs) deletion Pathogenic rs869312906 GRCh38 Chromosome 22, 20859333: 20859333
6 SNAP29 NM_004782.3(SNAP29): c.487A> G (p.Ser163Gly) single nucleotide variant Benign/Likely benign rs116892729 GRCh37 Chromosome 22, 21235389: 21235389
7 SNAP29 NM_004782.3(SNAP29): c.487A> G (p.Ser163Gly) single nucleotide variant Benign/Likely benign rs116892729 GRCh38 Chromosome 22, 20881101: 20881101
8 SNAP29 NM_004782.3(SNAP29): c.-5G> A single nucleotide variant Likely benign rs139884576 GRCh38 Chromosome 22, 20859106: 20859106
9 SNAP29 NM_004782.3(SNAP29): c.-5G> A single nucleotide variant Likely benign rs139884576 GRCh37 Chromosome 22, 21213394: 21213394
10 SNAP29 NM_004782.3(SNAP29): c.6A> G (p.Ser2=) single nucleotide variant Uncertain significance rs770386845 GRCh38 Chromosome 22, 20859116: 20859116
11 SNAP29 NM_004782.3(SNAP29): c.6A> G (p.Ser2=) single nucleotide variant Uncertain significance rs770386845 GRCh37 Chromosome 22, 21213404: 21213404
12 SNAP29 NM_004782.3(SNAP29): c.18A> G (p.Lys6=) single nucleotide variant Benign rs1061064 GRCh37 Chromosome 22, 21213416: 21213416
13 SNAP29 NM_004782.3(SNAP29): c.18A> G (p.Lys6=) single nucleotide variant Benign rs1061064 GRCh38 Chromosome 22, 20859128: 20859128
14 SNAP29 NM_004782.3(SNAP29): c.550A> G (p.Met184Val) single nucleotide variant Uncertain significance rs770234475 GRCh37 Chromosome 22, 21237788: 21237788
15 SNAP29 NM_004782.3(SNAP29): c.550A> G (p.Met184Val) single nucleotide variant Uncertain significance rs770234475 GRCh38 Chromosome 22, 20883500: 20883500
16 SNAP29 NM_004782.3(SNAP29): c.*519_*520delAC deletion Uncertain significance rs575240461 GRCh37 Chromosome 22, 21242643: 21242644
17 SNAP29 NM_004782.3(SNAP29): c.*519_*520delAC deletion Uncertain significance rs575240461 GRCh38 Chromosome 22, 20888355: 20888356
18 SNAP29 NM_004782.3(SNAP29): c.*614C> G single nucleotide variant Uncertain significance rs192171507 GRCh38 Chromosome 22, 20888450: 20888450
19 SNAP29 NM_004782.3(SNAP29): c.*614C> G single nucleotide variant Uncertain significance rs192171507 GRCh37 Chromosome 22, 21242738: 21242738
20 SNAP29 NM_004782.3(SNAP29): c.*780G> T single nucleotide variant Uncertain significance rs543150102 GRCh38 Chromosome 22, 20888616: 20888616
21 SNAP29 NM_004782.3(SNAP29): c.*780G> T single nucleotide variant Uncertain significance rs543150102 GRCh37 Chromosome 22, 21242904: 21242904
22 SNAP29 NM_004782.3(SNAP29): c.*1490T> C single nucleotide variant Likely benign rs12168260 GRCh38 Chromosome 22, 20889326: 20889326
23 SNAP29 NM_004782.3(SNAP29): c.*1490T> C single nucleotide variant Likely benign rs12168260 GRCh37 Chromosome 22, 21243614: 21243614
24 SNAP29 NM_004782.3(SNAP29): c.*1519T> C single nucleotide variant Benign rs165861 GRCh38 Chromosome 22, 20889355: 20889355
25 SNAP29 NM_004782.3(SNAP29): c.*1519T> C single nucleotide variant Benign rs165861 GRCh37 Chromosome 22, 21243643: 21243643
26 SNAP29 NM_004782.3(SNAP29): c.*1563T> G single nucleotide variant Benign rs11577 GRCh38 Chromosome 22, 20889399: 20889399
27 SNAP29 NM_004782.3(SNAP29): c.*1563T> G single nucleotide variant Benign rs11577 GRCh37 Chromosome 22, 21243687: 21243687
28 SNAP29 NM_004782.3(SNAP29): c.*2111G> T single nucleotide variant Uncertain significance rs551094177 GRCh37 Chromosome 22, 21244235: 21244235
29 SNAP29 NM_004782.3(SNAP29): c.*2111G> T single nucleotide variant Uncertain significance rs551094177 GRCh38 Chromosome 22, 20889947: 20889947
30 SNAP29 NM_004782.3(SNAP29): c.*2179G> A single nucleotide variant Uncertain significance rs553271593 GRCh37 Chromosome 22, 21244303: 21244303
31 SNAP29 NM_004782.3(SNAP29): c.*2179G> A single nucleotide variant Uncertain significance rs553271593 GRCh38 Chromosome 22, 20890015: 20890015
32 SNAP29 NM_004782.3(SNAP29): c.*2501G> A single nucleotide variant Uncertain significance rs112984030 GRCh37 Chromosome 22, 21244625: 21244625
33 SNAP29 NM_004782.3(SNAP29): c.*2501G> A single nucleotide variant Uncertain significance rs112984030 GRCh38 Chromosome 22, 20890337: 20890337
34 SNAP29 NM_004782.3(SNAP29): c.*2692C> T single nucleotide variant Likely benign rs148419415 GRCh37 Chromosome 22, 21244816: 21244816
35 SNAP29 NM_004782.3(SNAP29): c.*2692C> T single nucleotide variant Likely benign rs148419415 GRCh38 Chromosome 22, 20890528: 20890528
36 SNAP29 NM_004782.3(SNAP29): c.*2816A> G single nucleotide variant Benign rs165739 GRCh37 Chromosome 22, 21244940: 21244940
37 SNAP29 NM_004782.3(SNAP29): c.*2816A> G single nucleotide variant Benign rs165739 GRCh38 Chromosome 22, 20890652: 20890652
38 SNAP29 NM_004782.3(SNAP29): c.*2872G> A single nucleotide variant Likely benign rs111581119 GRCh37 Chromosome 22, 21244996: 21244996
39 SNAP29 NM_004782.3(SNAP29): c.*2872G> A single nucleotide variant Likely benign rs111581119 GRCh38 Chromosome 22, 20890708: 20890708
40 SNAP29 NM_004782.3(SNAP29): c.*2937_*2944delAAAAAAAA deletion Uncertain significance rs361606 GRCh38 Chromosome 22, 20890773: 20890780
41 SNAP29 NM_004782.3(SNAP29): c.*2937_*2944delAAAAAAAA deletion Uncertain significance rs361606 GRCh37 Chromosome 22, 21245061: 21245068
42 SNAP29 NM_004782.3(SNAP29): c.*2944delA deletion Uncertain significance rs361606 GRCh38 Chromosome 22, 20890780: 20890780
43 SNAP29 NM_004782.3(SNAP29): c.*2944delA deletion Uncertain significance rs361606 GRCh37 Chromosome 22, 21245068: 21245068
44 SNAP29 NM_004782.3(SNAP29): c.*2961T> C single nucleotide variant Benign rs165715 GRCh38 Chromosome 22, 20890797: 20890797
45 SNAP29 NM_004782.3(SNAP29): c.*2961T> C single nucleotide variant Benign rs165715 GRCh37 Chromosome 22, 21245085: 21245085
46 SNAP29 NM_004782.3(SNAP29): c.-68A> T single nucleotide variant Likely benign rs117593372 GRCh38 Chromosome 22, 20859043: 20859043
47 SNAP29 NM_004782.3(SNAP29): c.-68A> T single nucleotide variant Likely benign rs117593372 GRCh37 Chromosome 22, 21213331: 21213331
48 SNAP29 NM_004782.3(SNAP29): c.-40T> G single nucleotide variant Uncertain significance rs886057263 GRCh38 Chromosome 22, 20859071: 20859071
49 SNAP29 NM_004782.3(SNAP29): c.-40T> G single nucleotide variant Uncertain significance rs886057263 GRCh37 Chromosome 22, 21213359: 21213359
50 SNAP29 NM_004782.3(SNAP29): c.130T> C (p.Tyr44His) single nucleotide variant Likely benign rs116644127 GRCh37 Chromosome 22, 21213528: 21213528

Expression for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Search GEO for disease gene expression data for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome.

Pathways for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Pathways related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 SNARE interactions in vesicular transport hsa04130

GO Terms for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

Cellular components related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagosome GO:0005776 9.16 SNAP29 SQSTM1
2 ciliary membrane GO:0060170 8.96 EHD1 SNAP29
3 ciliary pocket membrane GO:0020018 8.62 EHD1 SNAP29

Biological processes related to Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.26 EHD1 SNAP29
2 cell projection organization GO:0030030 9.16 EHD1 SNAP29
3 autophagy GO:0006914 8.96 SNAP29 SQSTM1
4 endosomal transport GO:0016197 8.62 EHD1 SQSTM1

Sources for Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar...

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