PEHO
MCID: PHS005
MIFTS: 44

Peho Syndrome (PEHO)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peho Syndrome

MalaCards integrated aliases for Peho Syndrome:

Name: Peho Syndrome 57 12 74 20 58 73 36 29 54 6 15 71
Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy 57 20 73
Infantile Cerebellooptic Atrophy 57 20 73
Peho 57 73
Progressive Encephalopathy with Edema, Hypsarrhythmia and Optic Atrophy 58
Progressive Encephalopathy-Optic Atrophy Syndrome 58
Syndrome, Peho 39

Characteristics:

Orphanet epidemiological data:

58
peho syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy or at birth
increased incidence in individuals of finnish descent (carrier frequency of about 1%)


HPO:

31
peho syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Peho Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2836DefinitionPEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.EpidemiologyThe incidence in Finland has been estimated at 1 in 78 000, but a few patients have been described from other countries including (The Netherlands, Spain France).Clinical descriptionOnset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Other features include early arrest of psychomotor development, severe intellectual deficit, microcephaly, edema (particularly of the extremities), tapered fingers and facial dysmorphism (including a 'Pear-shaped' face with a narrow forehead and full cheeks, receding chin, epicanthic folds, an open mouth with a curved upper lip, protruding ear lobes and a short nose with anteverted nostrils).EtiologyTransmission appears to be autosomal recessive but the etiology is unknown. The only biochemical anomalies identified so far are elevated levels of nitrite, nitrate and nitric oxide (NO), and low levels of insulin-like growth factor 1 (IGF-1) in the cerebrospinal fluid (CSF).Diagnostic methodsDiagnosis is mainly clinical and depends on the presence of the following diagnostic criteria: early-onset severe hypotonia; the occurrence of seizures, infantile spasms and hypsarrhythmia after the first two weeks of life; onset of optic atrophy before two years of age, and failure to obtain any of the milestones for motor, visual and language development. An additional criterion is demonstration of cerebellar and brainstem atrophy by MRI. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome.Differential diagnosisThe differential diagnosis should include Aicardi syndrome, mevalonic aciduria, the carbohydrate-deficient glycoprotein (CDG) syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome and olivo-pontine cerebellar atrophies (see these terms).Antenatal diagnosisPrenatal diagnosis is not available but early diagnosis is essential for genetic counseling of affected families.Management and treatmentTreatment is symptomatic only. The infantile spasms are refractory to antiepileptic drugs or adrenocorticotropic hormone (ACTH) therapy.PrognosisThe prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.Visit the Orphanet disease page for more resources.

MalaCards based summary : Peho Syndrome, also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy, is related to peho-like syndrome and pontocerebellar hypoplasia, type 2e, and has symptoms including myoclonus An important gene associated with Peho Syndrome is ZNHIT3 (Zinc Finger HIT-Type Containing 3), and among its related pathways/superpathways is Transcription of tRNA. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are hyperreflexia and abnormality of eye movement

Disease Ontology : 12 A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss.

OMIM® : 57 PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral edema (summary by Anttonen et al., 2017). (260565) (Updated 05-Mar-2021)

KEGG : 36 The PEHO syndrome (progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy) is a rare autosomal recessive neurodegenerative disorder that presents in infancy with hypotonia, seizures, peripheral oedema, characteristic dysmorphic features, and poor visual response. It is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. A missense mutation in ZNHIT3 was identified as the primary cause of PEHO syndrome.

UniProtKB/Swiss-Prot : 73 PEHO syndrome: An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe mental retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death.

Wikipedia : 74 PEHO syndrome (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) is an autosomal... more...

Related Diseases for Peho Syndrome

Diseases in the Peho Syndrome family:

Peho-Like Syndrome

Diseases related to Peho Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 peho-like syndrome 32.4 ZNHIT3 KIF1A CCDC88A
2 pontocerebellar hypoplasia, type 2e 30.2 TSEN54 TSEN34 TSEN2
3 cerebellar hypoplasia 29.5 WDR73 TSEN54 RARS2 CASK
4 pontocerebellar hypoplasia, type 6 29.3 ZNHIT3 TSEN54 TSEN34 TSEN2 RARS2
5 pontocerebellar hypoplasia 28.5 VRK1 TSEN54 TSEN34 TSEN2 RARS2 CASK
6 microcephaly 28.0 WDR73 VRK1 TSEN54 TSEN34 TSEN2 RARS2
7 3-methylglutaconic aciduria, type iii 10.6
8 encephalopathy 10.6
9 west syndrome 10.4
10 hypotonia 10.4
11 spastic ataxia 2 10.2 KIF1C KIF1A
12 hereditary spastic paraplegia 30 10.2 KIF1C KIF1A
13 yemenite deaf-blind hypopigmentation syndrome 10.2
14 nescav syndrome 10.1
15 alacrima, achalasia, and mental retardation syndrome 10.1
16 autosomal recessive disease 10.1
17 sheehan syndrome 10.0 IGF1 HESX1
18 goldberg-shprintzen syndrome 10.0 KIF1C KIF1A
19 hypertonia 10.0 TSEN54 CASK
20 isolated growth hormone deficiency type iii 10.0 IGF1 HESX1
21 congenital nervous system abnormality 10.0 TSEN54 RARS2 CDKL5
22 isolated growth hormone deficiency, type ii 9.9 IGF1 HESX1
23 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
24 lennox-gastaut syndrome 9.9
25 developmental and epileptic encephalopathy 9.9
26 cerebellar disease 9.9
27 rubella 9.9
28 toxoplasmosis 9.9
29 cerebellar degeneration 9.9
30 precocious puberty 9.9
31 diaphragmatic eventration 9.9 TSEN54 KIF1A GPR82
32 early infantile epileptic encephalopathy 9.8
33 temporal lobe epilepsy 9.8
34 hydranencephaly 9.8
35 cerebral atrophy 9.8
36 tsen54 pontocerebellar hypoplasia 9.8 TSEN54 TSEN34 TSEN2
37 pontocerebellar hypoplasia, type 5 9.8 VRK1 TSEN54
38 pontocerebellar hypoplasia, type 2a 9.8 TSEN54 TSEN34 TSEN2
39 cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 9.8 TSEN54 CASK
40 hemoglobin h disease 9.8 TSEN54 TSEN34 TSEN2
41 pontocerebellar hypoplasia type 1 9.7 VRK1 TSEN54 RARS2
42 anterior horn cell disease 9.7 VRK1 TSEN54 RARS2
43 mental retardation and microcephaly with pontine and cerebellar hypoplasia 9.5 VRK1 TSEN54 TSEN34 CASK

Graphical network of the top 20 diseases related to Peho Syndrome:



Diseases related to Peho Syndrome

Symptoms & Phenotypes for Peho Syndrome

Human phenotypes related to Peho Syndrome:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 abnormality of eye movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0000496
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
5 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
6 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
7 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
8 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
9 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
10 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
11 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
12 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
13 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
14 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
15 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
16 severe muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006829
17 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
18 infantile spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0012469
19 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
20 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
21 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
22 abnormality of upper lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000177
23 drowsiness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002329
24 hypsarrhythmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002521
25 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
26 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
27 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
28 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
29 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
30 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
31 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
32 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
33 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
34 pedal edema 58 31 frequent (33%) Frequent (79-30%) HP:0010741
35 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
36 peripheral edema 58 31 frequent (33%) Frequent (79-30%) HP:0012398
37 porencephalic cyst 31 frequent (33%) HP:0002132
38 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
39 seizures 58 Very frequent (99-80%)
40 eeg abnormality 58 Very frequent (99-80%)
41 flexion contracture 58 Frequent (79-30%)
42 feeding difficulties in infancy 31 HP:0008872
43 myoclonus 31 HP:0001336
44 abnormality of movement 58 Very frequent (99-80%)
45 developmental stagnation 31 HP:0007281
46 retrognathia 31 HP:0000278
47 polymicrogyria 31 HP:0002126
48 tented upper lip vermilion 31 HP:0010804
49 pachygyria 31 HP:0001302
50 hypoplasia of the corpus callosum 31 HP:0002079

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
hypoplastic corpus callosum
myoclonic jerks
mental retardation, profound
lack of psychomotor development
more
Head And Neck Face:
full cheeks
bitemporal narrowing
receding chin
'pear-shaped' face

Muscle Soft Tissue:
hypotonia
edema, peripheral

Skeletal Hands:
tapered digits

Head And Neck Head:
microcephaly, progressive

Head And Neck Nose:
short nose

Head And Neck Mouth:
open mouth
tented upper lip
curved upper lip

Head And Neck Eyes:
epicanthal folds
visual fixation absent from birth or lost in first months of life
absence of visual evoked potentials
optic atrophy by 2 years of age

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

260565 (Updated 05-Mar-2021)

UMLS symptoms related to Peho Syndrome:


myoclonus

Drugs & Therapeutics for Peho Syndrome

Search Clinical Trials , NIH Clinical Center for Peho Syndrome

Genetic Tests for Peho Syndrome

Genetic tests related to Peho Syndrome:

# Genetic test Affiliating Genes
1 Peho Syndrome 29 ZNHIT3

Anatomical Context for Peho Syndrome

MalaCards organs/tissues related to Peho Syndrome:

40
Eye, Cerebellum, Brain

Publications for Peho Syndrome

Articles related to Peho Syndrome:

(show all 50)
# Title Authors PMID Year
1
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 61 57 6
28335020 2017
2
PEHO and PEHO-like syndromes: report of five Australian cases. 57 61
12949965 2003
3
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. 61 57
12868478 2003
4
PEHO or PEHO-like syndrome? 61 57
8723564 1996
5
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. 57 61
8552220 1995
6
Diagnostic criteria and genetics of the PEHO syndrome. 61 57
8301648 1993
7
Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). 61 57
8460530 1993
8
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). 57 61
2070547 1991
9
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6
26125038 2015
10
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 6
25265257 2015
11
KIF1A mutation in a patient with progressive neurodegeneration. 6
25253658 2014
12
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6
21376300 2011
13
The PEHO syndrome. 54 61
11701291 2001
14
Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hypsarrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. 61 54
10565594 1999
15
Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review. 61
33152950 2020
16
May PEHO Syndrome be a Clinical Entity Associated with Early Onset Encephalopathies? 61
32606555 2020
17
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. 61
31536827 2020
18
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. 61
31048081 2020
19
PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex. 61
30385166 2019
20
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. 61
30392057 2019
21
PEHO syndrome: the endpoint of different genetic epilepsies. 61
30287594 2018
22
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. 61
30100179 2018
23
Insulin-Like Growth Factors in the Pathogenesis of Neurological Diseases in Children. 61
28954393 2017
24
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. 61
28899015 2017
25
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. 61
28899016 2017
26
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. 61
27343026 2016
27
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 61
26486474 2016
28
CCDC88A mutations cause PEHO-like syndrome in humans and mouse. 61
26917597 2016
29
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases. 61
22408680 2011
30
Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described. 61
21596701 2011
31
PEHO syndrome: a study of five Argentinian patients. 61
21397166 2011
32
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity? 61
19707786 2010
33
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 61
18065176 2008
34
Serial MRI in a child with PEHO syndrome. 61
17631962 2007
35
Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. 61
16908579 2006
36
Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype. 61
16552425 2006
37
Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? 61
15968934 2005
38
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child. 61
15542387 2004
39
[Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report]. 61
12808501 2003
40
Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. 61
12561058 2003
41
A patient with hydranencephaly and PEHO-like dysmorphic features. 61
12818526 2003
42
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. 61
12075493 2002
43
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay. 61
11310991 2001
44
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. 61
11105628 2000
45
Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). 61
10840402 2000
46
[A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings]. 61
9394605 1997
47
[PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)]. 61
9091844 1997
48
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). 61
8972535 1996
49
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. 61
8352158 1993
50
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). 61
8330584 1993

Variations for Peho Syndrome

ClinVar genetic disease variations for Peho Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIF1A NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) SNV Pathogenic 30169 rs387906799 2:241727535-241727535 2:240788118-240788118
2 KIF1A NM_004321.7(KIF1A):c.647G>A (p.Arg216His) SNV Pathogenic 208161 rs672601368 2:241724479-241724479 2:240785062-240785062
3 KIF1A NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) SNV Pathogenic 208160 rs797045164 2:241724480-241724480 2:240785063-240785063
4 ZNHIT3 NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) SNV Likely pathogenic 427725 rs148890852 17:34842784-34842784 17:36486940-36486940
5 CCDC88A NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile) SNV not provided 818163 rs140794014 2:55523399-55523399 2:55296263-55296263

UniProtKB/Swiss-Prot genetic disease variations for Peho Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 ZNHIT3 p.Ser31Leu VAR_079193 rs148890852

Expression for Peho Syndrome

Search GEO for disease gene expression data for Peho Syndrome.

Pathways for Peho Syndrome

Pathways related to Peho Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.4 TSEN54 TSEN34 TSEN2

GO Terms for Peho Syndrome

Cellular components related to Peho Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 WDR73 VRK1 KIF1C KIF1A CDKL5 CCDC88A
2 nucleolus GO:0005730 9.63 VRK1 TSEN54 TSEN34 TSEN2 NUFIP1 CASK
3 pre-snoRNP complex GO:0070761 8.96 ZNHIT3 NUFIP1
4 tRNA-intron endonuclease complex GO:0000214 8.8 TSEN54 TSEN34 TSEN2

Biological processes related to Peho Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA processing GO:0008033 9.58 TSEN54 TSEN34 TSEN2
2 activation of protein kinase B activity GO:0032148 9.46 IGF1 CCDC88A
3 ERK1 and ERK2 cascade GO:0070371 9.43 IGF1 HESX1
4 box C/D snoRNP assembly GO:0000492 9.37 ZNHIT3 NUFIP1
5 cytoskeleton-dependent intracellular transport GO:0030705 9.33 KIF1C KIF1A CCDC88A
6 retrograde neuronal dense core vesicle transport GO:1990049 9.32 KIF1C KIF1A
7 anterograde neuronal dense core vesicle transport GO:1990048 9.26 KIF1C KIF1A
8 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.13 TSEN54 TSEN34 TSEN2
9 tRNA-type intron splice site recognition and cleavage GO:0000379 8.8 TSEN54 TSEN34 TSEN2

Molecular functions related to Peho Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.16 IGF1 CCDC88A
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.96 KIF1C KIF1A
3 tRNA-intron endonuclease activity GO:0000213 8.62 TSEN34 TSEN2

Sources for Peho Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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