PAMDDFS
MCID: PCH022
MIFTS: 18

Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures (PAMDDFS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

MalaCards integrated aliases for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:

Name: Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures 56 73 6
Pamddfs 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
early death may occur
five patients from 4 unrelated families have been reported (last curated january 2020)


HPO:

31
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

OMIM : 56 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). (618737)

MalaCards based summary : Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures, is also known as pamddfs. An important gene associated with Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures is TUBGCP2 (Tubulin Gamma Complex Associated Protein 2). Affiliated tissues include brain, and related phenotypes are smooth philtrum and thick eyebrow

UniProtKB/Swiss-Prot : 73 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures: An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures.

Related Diseases for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Symptoms & Phenotypes for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Human phenotypes related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 31 very rare (1%) HP:0000319
2 thick eyebrow 31 very rare (1%) HP:0000574
3 optic atrophy 31 very rare (1%) HP:0000648
4 spasticity 31 very rare (1%) HP:0001257
5 hypoplasia of the maxilla 31 very rare (1%) HP:0000327
6 upslanted palpebral fissure 31 very rare (1%) HP:0000582
7 thin upper lip vermilion 31 very rare (1%) HP:0000219
8 protruding ear 31 very rare (1%) HP:0000411
9 bulbous nose 31 very rare (1%) HP:0000414
10 midface retrusion 31 very rare (1%) HP:0011800
11 synophrys 31 very rare (1%) HP:0000664
12 pachygyria 31 very rare (1%) HP:0001302
13 sloping forehead 31 very rare (1%) HP:0000340
14 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
15 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
16 cerebral visual impairment 31 very rare (1%) HP:0100704
17 brisk reflexes 31 very rare (1%) HP:0001348
18 narrow forehead 31 very rare (1%) HP:0000341
19 progressive microcephaly 31 very rare (1%) HP:0000253
20 subependymal cysts 31 very rare (1%) HP:0002416
21 subcortical band heterotopia 31 very rare (1%) HP:0032409
22 widely-spaced incisors 31 very rare (1%) HP:0006304
23 interictal epileptiform activity 31 HP:0011182

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
pachygyria
subependymal cysts
subcortical band heterotopia
speech delay
more
Head And Neck Eyes:
optic atrophy
myopia
astigmatism
downslanting palpebral fissures
thick eyebrows
more
Head And Neck Mouth:
thin upper lip
thick lips

Head And Neck Ears:
prominent ears

Head And Neck Head:
microcephaly, progressive (-5 to -9 sd)

Head And Neck Face:
smooth philtrum
retrognathia
micrognathia
sloping forehead
narrow forehead
more
Skeletal Hands:
long fingers

Muscle Soft Tissue:
hypotonia

Prenatal Manifestations Delivery:
premature delivery (in some patients)

Clinical features from OMIM:

618737

Drugs & Therapeutics for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Search Clinical Trials , NIH Clinical Center for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures

Genetic Tests for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Anatomical Context for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

MalaCards organs/tissues related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:

40
Brain

Publications for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Articles related to Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:

# Title Authors PMID Year
1
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. 6 56
31630790 2019

Variations for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

ClinVar genetic disease variations for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBGCP2 NM_006659.3(TUBGCP2):c.2025-2A>GSNV Pathogenic 691862 10:135097508-135097508 10:133284004-133284004
2 TUBGCP2 NM_006659.3(TUBGCP2):c.1843G>C (p.Ala615Pro)SNV Conflicting interpretations of pathogenicity 691860 10:135099012-135099012 10:133285508-133285508
3 TUBGCP2 NM_006659.3(TUBGCP2):c.997C>T (p.Arg333Cys)SNV Conflicting interpretations of pathogenicity 691859 10:135106570-135106570 10:133293066-133293066
4 TUBGCP2 NM_006659.3(TUBGCP2):c.889C>T (p.Arg297Cys)SNV Conflicting interpretations of pathogenicity 691861 10:135106678-135106678 10:133293174-133293174

Expression for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Search GEO for disease gene expression data for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic Facies, with or Without Seizures.

Pathways for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

GO Terms for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

Sources for Pachygyria, Microcephaly, Developmental Delay, and Dysmorphic...

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