PEHOL
MCID: PHL010
MIFTS: 26

Peho-Like Syndrome (PEHOL)

Categories: Endocrine diseases, Eye 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 59 75 6
Peho Syndrome-Like 57 75
Pehol 57 75
Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy-Like Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


Classifications:



Summaries for Peho-Like Syndrome

UniProtKB/Swiss-Prot : 75 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 encephalopathy 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, skin and eye, and related phenotypes are hyperreflexia and global developmental delay

Description 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 encephalopathy 10.3
2 3-methylglutaconic aciduria, type iii 10.1

Symptoms & Phenotypes for Peho-Like Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
absent speech
status epilepticus
pachygyria
polymicrogyria
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

Human phenotypes related to Peho-Like Syndrome:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 32 HP:0001347
2 global developmental delay 32 HP:0001263
3 optic atrophy 32 HP:0000648
4 neonatal hypotonia 32 HP:0001319
5 full cheeks 32 HP:0000293
6 edema 32 HP:0000969
7 retrognathia 32 HP:0000278
8 epicanthus 32 HP:0000286
9 myoclonus 32 HP:0001336
10 absent speech 32 HP:0001344
11 ventriculomegaly 32 HP:0002119
12 status epilepticus 32 HP:0002133
13 intellectual disability, profound 32 HP:0002187
14 pachygyria 32 HP:0001302
15 polymicrogyria 32 HP:0002126
16 cerebellar atrophy 32 HP:0001272
17 sloping forehead 32 HP:0000340
18 severe muscular hypotonia 32 HP:0006829
19 hypoplasia of the corpus callosum 32 HP:0002079
20 hypsarrhythmia 32 HP:0002521
21 narrow forehead 32 HP:0000341
22 infantile encephalopathy 32 HP:0007105

Drugs & Therapeutics for Peho-Like Syndrome

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

Genetic Tests for Peho-Like Syndrome

Anatomical Context for Peho-Like Syndrome

MalaCards organs/tissues related to Peho-Like Syndrome:

41
Brain, Skin, Eye

Publications for Peho-Like Syndrome

Articles related to Peho-Like Syndrome:

# Title Authors Year
1
A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. ( 30392057 )
2018
2
CCDC88A mutations cause PEHO-like syndrome in humans and mouse. ( 26917597 )
2016
3
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy and PEHO-like syndrome: Report of two cases. ( 22408680 )
2011
4
Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? ( 15968934 )
2005
5
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. ( 12868478 )
2003
6
PEHO or PEHO-like syndrome? ( 8723564 )
1996

Variations for Peho-Like Syndrome

ClinVar genetic disease variations for Peho-Like Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC88A NM_001135597.1(CCDC88A): c.2315delT (p.Leu772Terfs) deletion Pathogenic rs879255649 GRCh38 Chromosome 2, 55334506: 55334506
2 CCDC88A NM_001135597.1(CCDC88A): c.2315delT (p.Leu772Terfs) deletion Pathogenic rs879255649 GRCh37 Chromosome 2, 55561642: 55561642

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

Sources for Peho-Like 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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