PEHO
MCID: PHS005
MIFTS: 38

Peho Syndrome (PEHO)

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

Aliases & Classifications for Peho Syndrome

MalaCards integrated aliases for Peho Syndrome:

Name: Peho Syndrome 57 76 53 59 75 55 6 73
Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy 57 53 75
Infantile Cerebellooptic Atrophy 57 53 75
Peho 57 75
Progressive Encephalopathy with Edema, Hypsarrhythmia and Optic Atrophy 59
Progressive Encephalopathy-Optic Atrophy Syndrome 59
Syndrome, Peho 40

Characteristics:

Orphanet epidemiological data:

59
peho syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
peho syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Peho Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2836Disease definitionPEHO (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 encephalopathy, and has symptoms including myoclonus An important gene associated with Peho Syndrome is ZNHIT3 (Zinc Finger HIT-Type Containing 3). Affiliated tissues include eye, cerebellum and skin, and related phenotypes are malar flattening and hydrocephalus

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)

UniProtKB/Swiss-Prot : 75 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 : 76 PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a... 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:

# Related Disease Score Top Affiliating Genes
1 peho-like syndrome 11.3
2 encephalopathy 10.5
3 3-methylglutaconic aciduria, type iii 10.5
4 cerebral atrophy 10.3
5 pontocerebellar hypoplasia, type 6 10.0
6 pontocerebellar hypoplasia 10.0
7 hydranencephaly 10.0
8 epilepsy 10.0
9 cerebellar degeneration 10.0
10 precocious puberty 10.0

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



Diseases related to Peho Syndrome

Symptoms & Phenotypes for Peho Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
hypoplastic corpus callosum
mental retardation, profound
myoclonic jerks
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

Human phenotypes related to Peho Syndrome:

59 32 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 abnormality of eye movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0000496
4 seizures 59 32 Very frequent (99-80%) HP:0001250
5 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
6 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
7 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
10 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
13 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
14 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
15 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
16 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
17 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
18 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
19 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
20 external ear malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008572
21 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
22 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
23 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
24 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
25 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
26 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
27 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
28 infantile spasms 59 32 hallmark (90%) Very frequent (99-80%) HP:0012469
29 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
30 tapered finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0001182
31 severe muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006829
32 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
33 edema of the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0010741
34 drowsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002329
35 hypsarrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002521
36 abnormality of upper lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000177
37 peripheral edema 59 32 frequent (33%) Frequent (79-30%) HP:0012398
38 eeg abnormality 59 Very frequent (99-80%)
39 flexion contracture 59 Frequent (79-30%)
40 feeding difficulties in infancy 32 HP:0008872
41 abnormality of movement 59 Very frequent (99-80%)
42 retrognathia 32 HP:0000278
43 myoclonus 32 HP:0001336
44 developmental stagnation 32 HP:0007281
45 intellectual disability, profound 32 HP:0002187
46 abnormality of the palate 59 Very frequent (99-80%)
47 tented upper lip vermilion 32 HP:0010804
48 pachygyria 32 HP:0001302
49 polymicrogyria 32 HP:0002126
50 edema of the dorsum of hands 32 HP:0007514

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

Anatomical Context for Peho Syndrome

MalaCards organs/tissues related to Peho Syndrome:

41
Eye, Cerebellum, Skin, Brain

Publications for Peho Syndrome

Articles related to Peho Syndrome:

(show all 24)
# Title Authors Year
1
PEHO syndrome: the endpoint of different genetic epilepsies. ( 30287594 )
2018
2
PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex. ( 30385166 )
2018
3
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. ( 28899016 )
2017
4
The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. ( 28899015 )
2017
5
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. ( 28335020 )
2017
6
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. ( 27343026 )
2016
7
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. ( 26486474 )
2015
8
PEHO syndrome: a study of five Argentinian patients. ( 21397166 )
2011
9
Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described. ( 21596701 )
2011
10
Serial MRI in a child with PEHO syndrome. ( 17631962 )
2007
11
Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. ( 16908579 )
2006
12
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child. ( 15542387 )
2004
13
Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. ( 12075493 )
2002
14
The PEHO syndrome. ( 11701291 )
2001
15
Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). ( 10840402 )
2000
16
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. ( 11105628 )
2000
17
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. ( 10565594 )
1999
18
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). ( 8972535 )
1996
19
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings. ( 8552220 )
1995
20
Diagnostic criteria and genetics of the PEHO syndrome. ( 8301648 )
1993
21
Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). ( 8330584 )
1993
22
Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). ( 8460530 )
1993
23
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. ( 8352158 )
1993
24
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). ( 2070547 )
1991

Variations for Peho Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 ZNHIT3 p.Ser31Leu VAR_079193 rs148890852

ClinVar genetic disease variations for Peho Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh37 Chromosome 2, 241727535: 241727535
2 KIF1A NM_001244008.1(KIF1A): c.296C> T (p.Thr99Met) single nucleotide variant Pathogenic rs387906799 GRCh38 Chromosome 2, 240788118: 240788118
3 KIF1A NM_001244008.1(KIF1A): c.647G> A (p.Arg216His) single nucleotide variant Pathogenic rs672601368 GRCh37 Chromosome 2, 241724479: 241724479
4 KIF1A NM_001244008.1(KIF1A): c.647G> A (p.Arg216His) single nucleotide variant Pathogenic rs672601368 GRCh38 Chromosome 2, 240785062: 240785062
5 KIF1A NM_001244008.1(KIF1A): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs797045164 GRCh37 Chromosome 2, 241724480: 241724480
6 KIF1A NM_001244008.1(KIF1A): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs797045164 GRCh38 Chromosome 2, 240785063: 240785063
7 ZNHIT3 NM_004773.3(ZNHIT3): c.92C> T (p.Ser31Leu) single nucleotide variant Pathogenic rs148890852 GRCh38 Chromosome 17, 36486940: 36486940
8 ZNHIT3 NM_004773.3(ZNHIT3): c.92C> T (p.Ser31Leu) single nucleotide variant Pathogenic rs148890852 GRCh37 Chromosome 17, 34842784: 34842784

Expression for Peho Syndrome

Search GEO for disease gene expression data for Peho Syndrome.

Pathways for Peho Syndrome

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 pre-snoRNP complex GO:0070761 8.62 NUFIP1 ZNHIT3

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

# Name GO ID Score Top Affiliating Genes
1 box C/D snoRNP assembly GO:0000492 8.62 NUFIP1 ZNHIT3

Sources for Peho Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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