PEHOL
MCID: PHL010
MIFTS: 32

Peho-Like Syndrome (PEHOL)

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

Aliases & Classifications for Peho-Like Syndrome

MalaCards integrated aliases for Peho-Like Syndrome:

Name: Peho-Like Syndrome 57 58 72 36 29 6
Peho Syndrome-Like 57 72
Pehol 57 72
Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy-Like Syndrome 57

Characteristics:

Orphanet epidemiological data:

58
peho-like syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile,late childhood;

OMIM®:

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

Miscellaneous:
onset in infancy or at birth
three patients from 1 consanguineous family have been reported (last curated july 2016)


HPO:

31
peho-like syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Peho-Like Syndrome

UniProtKB/Swiss-Prot : 72 PEHO-like syndrome: An autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet.

MalaCards based summary : Peho-Like Syndrome, also known as peho syndrome-like, is related to peho syndrome and 3-methylglutaconic aciduria, type iii. An important gene associated with Peho-Like Syndrome is CCDC88A (Coiled-Coil Domain Containing 88A). Affiliated tissues include brain, and related phenotypes are hyperreflexia and global developmental delay

KEGG : 36 PEHO syndrome [DS:H02252] is a rare hereditary disease comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Cases lacking either optic atrophy or cerebellar hypoplasia are often termed PEHO-like syndrome. A homozygous frameshift mutation in CCDC88A has been identified in affected individuals.

More information from OMIM: 617507

Related Diseases for Peho-Like Syndrome

Diseases in the Peho Syndrome family:

Peho-Like Syndrome

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

# Related Disease Score Top Affiliating Genes
1 peho syndrome 30.5 ZNHIT3 KIF1A CCDC88A
2 3-methylglutaconic aciduria, type iii 10.4
3 encephalopathy 10.4
4 microcephaly 10.2
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 early infantile epileptic encephalopathy 10.0
7 cerebellar hypoplasia 10.0
8 temporal lobe epilepsy 10.0
9 hypotonia 10.0

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



Diseases related to Peho-Like Syndrome

Symptoms & Phenotypes for Peho-Like Syndrome

Human phenotypes related to Peho-Like Syndrome:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 global developmental delay 31 HP:0001263
3 short nose 31 HP:0003196
4 optic atrophy 31 HP:0000648
5 neonatal hypotonia 31 HP:0001319
6 full cheeks 31 HP:0000293
7 myoclonus 31 HP:0001336
8 absent speech 31 HP:0001344
9 retrognathia 31 HP:0000278
10 epicanthus 31 HP:0000286
11 open mouth 31 HP:0000194
12 ventriculomegaly 31 HP:0002119
13 polymicrogyria 31 HP:0002126
14 severe muscular hypotonia 31 HP:0006829
15 pachygyria 31 HP:0001302
16 sloping forehead 31 HP:0000340
17 hypoplasia of the corpus callosum 31 HP:0002079
18 feeding difficulties 31 HP:0011968
19 cerebellar atrophy 31 HP:0001272
20 status epilepticus 31 HP:0002133
21 intellectual disability, profound 31 HP:0002187
22 edema 31 HP:0000969
23 hypsarrhythmia 31 HP:0002521
24 narrow forehead 31 HP:0000341
25 progressive microcephaly 31 HP:0000253
26 infantile encephalopathy 31 HP:0007105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
absent speech
polymicrogyria
pachygyria
status epilepticus
more
Head And Neck Eyes:
optic atrophy
epicanthal folds
visual fixation absent from birth or lost in first months of life
absent visual evoked potentials

Head And Neck Mouth:
open mouth

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly, progressive (up to -6sd)

Head And Neck Nose:
short nose

Head And Neck Face:
full cheeks
sloping forehead
narrow forehead
bitemporal narrowing
receding chin

Skeletal Hands:
tapered digits

Muscle Soft Tissue:
hypotonia, neonatal
edema, peripheral

Clinical features from OMIM®:

617507 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peho-Like Syndrome

Search Clinical Trials , NIH Clinical Center for Peho-Like Syndrome

Genetic Tests for Peho-Like Syndrome

Genetic tests related to Peho-Like Syndrome:

# Genetic test Affiliating Genes
1 Peho-Like Syndrome 29 CCDC88A

Anatomical Context for Peho-Like Syndrome

MalaCards organs/tissues related to Peho-Like Syndrome:

40
Brain

Publications for Peho-Like Syndrome

Articles related to Peho-Like Syndrome:

(show all 21)
# Title Authors PMID Year
1
CCDC88A mutations cause PEHO-like syndrome in humans and mouse. 61 57 6
26917597 2016
2
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 57 6
28335020 2017
3
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. 61 6
31048081 2020
4
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 6
26486474 2016
5
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. 6
26125038 2015
6
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. 6
25265257 2015
7
KIF1A mutation in a patient with progressive neurodegeneration. 6
25253658 2014
8
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6
21376300 2011
9
Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review. 61
33152950 2020
10
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. 61
30392057 2019
11
PEHO syndrome: the endpoint of different genetic epilepsies. 61
30287594 2018
12
Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes. 61
30100179 2018
13
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. 61
27343026 2016
14
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases. 61
22408680 2011
15
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 61
18065176 2008
16
Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? 61
15968934 2005
17
PEHO and PEHO-like syndromes: report of five Australian cases. 61
12949965 2003
18
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. 61
12868478 2003
19
A patient with hydranencephaly and PEHO-like dysmorphic features. 61
12818526 2003
20
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
21
PEHO or PEHO-like syndrome? 61
8723564 1996

Variations for Peho-Like Syndrome

ClinVar genetic disease variations for Peho-Like Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC88A NM_001365480.1(CCDC88A):c.2315del (p.Thr771_Leu772insTer) Deletion Pathogenic 253149 rs879255649 GRCh37: 2:55561642-55561642
GRCh38: 2:55334506-55334506
2 KIF1A NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) SNV Pathogenic 208160 rs797045164 GRCh37: 2:241724480-241724480
GRCh38: 2:240785063-240785063
3 KIF1A NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) SNV Pathogenic 30169 rs387906799 GRCh37: 2:241727535-241727535
GRCh38: 2:240788118-240788118
4 KIF1A NM_004321.7(KIF1A):c.647G>A (p.Arg216His) SNV Pathogenic 208161 rs672601368 GRCh37: 2:241724479-241724479
GRCh38: 2:240785062-240785062
5 ZNHIT3 NM_004773.4(ZNHIT3):c.251_254del (p.Glu84fs) Deletion Pathogenic 1032937 GRCh37: 17:34849815-34849818
GRCh38: 17:36493971-36493974
6 ZNHIT3 NM_004773.4(ZNHIT3):c.253_254del (p.Asp85fs) Deletion Pathogenic 1032938 GRCh37: 17:34849816-34849817
GRCh38: 17:36493972-36493973
7 ZNHIT3 NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) SNV Likely pathogenic 427725 rs148890852 GRCh37: 17:34842784-34842784
GRCh38: 17:36486940-36486940
8 ZNHIT3 NM_004773.4(ZNHIT3):c.7T>A (p.Ser3Thr) SNV Uncertain significance 1032939 GRCh37: 17:34842550-34842550
GRCh38: 17:36486706-36486706
9 CCDC88A NM_001365480.1(CCDC88A):c.3263G>C (p.Arg1088Thr) SNV Uncertain significance 1033728 GRCh37: 2:55546040-55546040
GRCh38: 2:55318904-55318904
10 CCDC88A NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile) SNV not provided 818163 rs140794014 GRCh37: 2:55523399-55523399
GRCh38: 2:55296263-55296263

Expression for Peho-Like Syndrome

Search GEO for disease gene expression data for Peho-Like Syndrome.

Pathways for Peho-Like Syndrome

GO Terms for Peho-Like Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.62 KIF1A CCDC88A

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton-dependent intracellular transport GO:0030705 8.62 KIF1A CCDC88A

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.62 KIF1A CCDC88A

Sources for Peho-Like 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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