POPCHAS
MCID: PPV001
MIFTS: 19

Popov-Chang Syndrome (POPCHAS)

Categories: Genetic diseases, Neuronal diseases, Skin diseases

Aliases & Classifications for Popov-Chang Syndrome

MalaCards integrated aliases for Popov-Chang Syndrome:

Name: Popov-Chang Syndrome 57 74 6
Popchas 57 74
Nedisdf 57 74
Neurodevelopmental Disorder with Impaired Speech and Dysmorphic Facial Features; Nedisdf 57
Neurodevelopmental Disorder with Impaired Speech and Dysmorphic Facial Features 57
Neurodevelopmental Disorder with Impaired Speech and Dysmorphic Features 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
highly variable features
patient a was severely affected


Classifications:



External Ids:

OMIM 57 618428
MeSH 44 D065886
MedGen 42 CN258436

Summaries for Popov-Chang Syndrome

OMIM : 57 Popov-Chang syndrome (POPCHAS) is a neurodevelopmental disorder characterized by global developmental delay apparent from infancy. Affected individuals have impaired intellectual development and poor or absent speech, as well as behavioral abnormalities. Most patients have significant facial dysmorphism, including coarse features, frontal bossing, and abnormal eye shape. Additional features are highly variable and can include seizures, short stature, feeding difficulties, and skin abnormalities (summary by Popov et al., 2019). (618428)

MalaCards based summary : Popov-Chang Syndrome, is also known as popchas. An important gene associated with Popov-Chang Syndrome is YWHAZ (Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta). Affiliated tissues include skin and eye.

UniProtKB/Swiss-Prot : 74 Popov-Chang syndrome: An autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, facial dysmorphism, and behavioral manifestations including autistic- like behavior, self-injurious behavior, fear of social interaction, and poor concentration. Additional features are highly variable and can include seizures, short stature, feeding difficulties, and skin abnormalities.

Related Diseases for Popov-Chang Syndrome

Symptoms & Phenotypes for Popov-Chang Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features
poor concentration
fear during social interactions
hand stereotypies
more
Head And Neck Nose:
depressed nasal bridge
long nose
upturned nose

Head And Neck Face:
long philtrum
triangular face
dysmorphic facial features (in most patients)

Skeletal Hands:
fifth finger clinodactyly
small hands

Skeletal Feet:
small feet

Growth Other:
failure to thrive (patient a)

Skeletal:
scoliosis (patient a)

Cardiovascular Heart:
pulmonic stenosis (patient a)

Immunology:
hypogammaglobulinemia (patient a)
lymphopenia (patient a)

Head And Neck Eyes:
ptosis
proptosis
abnormal eye morphology

Neurologic Central Nervous System:
global developmental delay
delayed walking
poor or absent speech
impaired intellectual development
seizures, controlled (in some patients)
more
Skin Nails Hair Hair:
coarse hair

Head And Neck Mouth:
thin upper lip
thick lips

Growth Height:
short stature (in some patients)

Abdomen Gastrointestinal:
feeding difficulties (in some patients)
gastroesophageal reflux (patient a)

Cardiovascular Vascular:
hypertension (patient a)

Head And Neck Ears:
otitis media, recurrent (patient a)

Skin Nails Hair Skin:
hyperkeratosis (patient a)
dry skin (patient a)

Clinical features from OMIM:

618428

Drugs & Therapeutics for Popov-Chang Syndrome

Search Clinical Trials , NIH Clinical Center for Popov-Chang Syndrome

Genetic Tests for Popov-Chang Syndrome

Anatomical Context for Popov-Chang Syndrome

MalaCards organs/tissues related to Popov-Chang Syndrome:

41
Skin, Eye

Publications for Popov-Chang Syndrome

Articles related to Popov-Chang Syndrome:

# Title Authors PMID Year
1
A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway. 8 71
31024343 2019

Variations for Popov-Chang Syndrome

ClinVar genetic disease variations for Popov-Chang Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 YWHAZ NM_003406.4(YWHAZ): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic 8:101960961-101960961 8:100948733-100948733
2 YWHAZ NM_003406.4(YWHAZ): c.434C> T (p.Ser145Leu) single nucleotide variant Pathogenic 8:101936511-101936511 8:100924283-100924283
3 YWHAZ NM_003406.4(YWHAZ): c.40G> T (p.Glu14Ter) single nucleotide variant Pathogenic 8:101961078-101961078 8:100948850-100948850
4 YWHAZ NM_003406.4(YWHAZ): c.687_688dup (p.Ser230fs) duplication Pathogenic 8:101932970-101932971 8:100920742-100920743
5 YWHAZ NM_003406.4(YWHAZ): c.689C> G (p.Ser230Trp) single nucleotide variant Uncertain significance rs1554612377 8:101932970-101932970 8:100920742-100920742

Expression for Popov-Chang Syndrome

Search GEO for disease gene expression data for Popov-Chang Syndrome.

Pathways for Popov-Chang Syndrome

GO Terms for Popov-Chang Syndrome

Sources for Popov-Chang Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....