Macrocephaly/megalencephaly Syndrome, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MGCPH MCID: MCR237 MIFTS: 40	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (MGCPH) Categories: Bone diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

MalaCards integrated aliases for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Name: Macrocephaly/megalencephaly Syndrome, Autosomal Recessive ⁵⁷ ⁷² ²⁹ ⁶ ³⁹ ⁷⁰

Mgcph ⁵⁷ ⁷²

Autosomal Recessive Macrocephaly/megalencephaly Syndrome ³⁶

Megalencephaly ⁴⁴

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families, one north african descent and one of italian descent, have been reported (last curated august 2014)

HPO:

³¹

macrocephaly/megalencephaly syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 248000

KEGG ³⁶ H02446

MeSH ⁴⁴ D058627

MedGen ⁴¹ C3806412

UMLS ⁷⁰ C3806412

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Summaries for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

OMIM® : ⁵⁷ Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014). (248000) (Updated 05-Apr-2021)

MalaCards based summary : Macrocephaly/megalencephaly Syndrome, Autosomal Recessive, also known as mgcph, is related to megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 and megalencephaly-capillary malformation-polymicrogyria syndrome. An important gene associated with Macrocephaly/megalencephaly Syndrome, Autosomal Recessive is TBC1D7 (TBC1 Domain Family Member 7), and among its related pathways/superpathways are mTOR signaling pathway and Vesicle-mediated transport. Affiliated tissues include brain, cortex and skin, and related phenotypes are myopia and psychosis

KEGG : ³⁶ Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms a complex with TSC1 and TSC2 that inhibits mTORC1 signaling and limits cell growth.

UniProtKB/Swiss-Prot : ⁷² Macrocephaly/megalencephaly syndrome, autosomal recessive: A disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism.

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Related Diseases for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Diseases related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)

#	Related Disease	Score
1	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	11.8
2	megalencephaly-capillary malformation-polymicrogyria syndrome	11.8
3	megalencephaly	11.7
4	polyhydramnios, megalencephaly, and symptomatic epilepsy	11.6
5	leukoencephalopathy, cystic, without megalencephaly	11.6
6	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	11.5
7	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	11.5
8	hemimegalencephaly	11.5
9	megalencephalic leukoencephalopathy with subcortical cysts 1	11.5
10	alexander disease	11.3
11	cowden syndrome 1	11.2
12	megalencephaly, autosomal dominant	11.2
13	smith-kingsmore syndrome	11.1
14	megalencephaly with dysmyelination	11.0
15	pik3ca-related overgrowth spectrum	11.0
16	focal alopecia congenital megalencephaly	10.9
17	isolated megalencephaly	10.9
18	macrocephaly, benign familial	10.9
19	macrocephaly, dysmorphic facies, and psychomotor retardation	10.9
20	mental retardation, autosomal recessive 34, with variant lissencephaly	10.9
21	neurofaciodigitorenal syndrome	10.8
22	waisman syndrome	10.8
23	mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations	10.8
24	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.5
25	polymicrogyria	10.5
26	hydrocephalus	10.5
27	polydactyly	10.4
28	overgrowth syndrome	10.4
29	alacrima, achalasia, and mental retardation syndrome	10.3
30	pik3ca-related segmental overgrowth	10.3
31	hypotonia	10.3
32	chromosome 2q35 duplication syndrome	10.2
33	epilepsy	10.1
34	leukodystrophy	10.1
35	polyhydramnios	10.1
36	autism	10.1
37	ataxia and polyneuropathy, adult-onset	10.1
38	autism spectrum disorder	10.1
39	tuberous sclerosis	10.1
40	thymoma, familial	10.0
41	cortical dysplasia, complex, with other brain malformations 10	10.0
42	thymoma	10.0
43	sotos syndrome 1	10.0
44	tuberous sclerosis 1	10.0
45	congenital heart defects, hamartomas of tongue, and polysyndactyly	10.0
46	lissencephaly	10.0
47	periventricular nodular heterotopia	10.0
48	microcephaly	10.0
49	hypoglycemia	10.0
50	gigantism	10.0

Graphical network of the top 20 diseases related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

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Symptoms & Phenotypes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Human phenotypes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	myopia ³¹	occasional (7.5%)	HP:0000545
2	psychosis ³¹	occasional (7.5%)	HP:0000709
3	astigmatism ³¹	occasional (7.5%)	HP:0000483
4	patellar subluxation ³¹	occasional (7.5%)	HP:0010499
5	macrocephaly ³¹		HP:0000256
6	intellectual disability ³¹		HP:0001249
7	megalencephaly ³¹		HP:0001355
8	depressivity ³¹		HP:0000716
9	coarse facial features ³¹		HP:0000280
10	global developmental delay ³¹		HP:0001263
11	mandibular prognathia ³¹		HP:0000303
12	delayed speech and language development ³¹		HP:0000750
13	optic atrophy ³¹		HP:0000648
14	pointed chin ³¹		HP:0000307
15	broad forehead ³¹		HP:0000337
16	abnormality of the musculature ³¹		HP:0003011
17	adrenal medullary hypoplasia ³¹		HP:0008239
18	scaphocephaly ³¹		HP:0030799

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Head:
macrocephaly
scaphocephaly
enlarged head circumference (97th percentile)

Head And Neck Face:
pointed chin
broad forehead
prognathism

Skeletal Limbs:
patellar subluxation (1 family)

Neurologic Central Nervous System:
intellectual disability
megalencephaly
speech delay
delayed psychomotor development
enlarged corpus callosum
more

Head And Neck Eyes:
myopia (1 family)
astigmatism (1 family)

Neurologic Behavioral Psychiatric Manifestations:
depression (1 family)
psychosis (1 family)

Clinical features from OMIM®:

248000 (Updated 05-Apr-2021)

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Drugs & Therapeutics for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations	Recruiting	NCT02461446

Search NIH Clinical Center for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Cochrane evidence based reviews: megalencephaly

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Genetic Tests for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genetic tests related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive ²⁹	TBC1D7

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Anatomical Context for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

⁴⁰

Brain, Cortex, Skin, Cerebellum, Spinal Cord, Temporal Lobe

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Publications for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Articles related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

(show top 50) (show all 418)

#	Title	Authors	PMID	Year
1	Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. ⁶¹ ⁵⁷ ⁶	Capo-Chichi JM...Michaud JL	23687350	2013
2	TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease. ⁵⁷ ⁶	Alfaiz AA...Reymond A	24515783	2014
3	Macrocephaly syndromes. ⁶¹ ⁵⁷	Olney AH	17980309	2007
4	[MEGALENCEPHALY: CONSIDERATIONS WITH REFERENCE TO 7 CASES DIAGNOSED INTRA VITAM]. ⁵⁷ ⁶¹	DE ALMEIDA GM...DE BARROS NG	14144518	1964
5	Genetic disorders associated with macrocephaly. ⁵⁷	Williams CA...Battaglia A	18629877	2008
6	CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies. ⁶¹	Koprulu M...Tolun A	33647455	2021
7	Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation. ⁶¹	Pooh RK...Chiyo H	33801456	2021
8	Cerebellar dysplasia related to PIK3CA mutation: a three-case series. ⁶¹	Di Stasi M...Parazzini C	32901329	2021
9	Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA. ⁶¹	Alsaif HS...Alkuraya FS	33247513	2021
10	Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. ⁶¹	Aerden M...Devriendt K	33605605	2021
11	STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation. ⁶¹	Dang LT...Parent JM	33619909	2021
12	Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway. ⁶¹	Kushi R...Ogawa W	33479580	2021
13	Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. ⁶¹	Garde A...Faivre L	33415748	2021
14	PIK3R2/Pik3r2 Activating Mutations Result in Brain Overgrowth and EEG Changes. ⁶¹	Shi X...Golden JA	32856318	2020
15	Novel neonatal presentation of megalencephaly-polymicrogyria-pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case. ⁶¹	Taylor DL...Morley KW	33325571	2020
16	HSF1 physically neutralizes amyloid oligomers to empower overgrowth and bestow neuroprotection. ⁶¹	Tang Z...Dai C	33177089	2020
17	Longitudinal Evaluation of Cerebral Growth Across Childhood in Boys and Girls With Autism Spectrum Disorder. ⁶¹	Lee JK...Nordahl CW	33388135	2020
18	Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis. ⁶¹	Fortin O...Myers KA	32631464	2020
19	Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes. ⁶¹	Abell K...Saal HM	32935482	2020
20	Introduction to phacomatoses (neurocutaneous disorders) in childhood. ⁶¹	Ruggieri M...Di Rocco C	32940773	2020
21	Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy. ⁶¹	Sanchez A...Bosch A	32372403	2020
22	Understanding Hippocampal Development in Young Children With Autism Spectrum Disorder. ⁶¹	Reinhardt VP...Solomon M	31449875	2020
23	Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. ⁶¹	Park HJ...Ko JM	32778138	2020
24	Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. ⁶¹	Szalai R...Hadzsiev K	32446860	2020
25	PIK3CA vascular overgrowth syndromes: an update. ⁶¹	Hughes M...Luu M	32692051	2020
26	Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding. ⁶¹	Pascoe HM...Kumbla S	32103291	2020
27	Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. ⁶¹	De Graer C...Donner C	31568861	2020
28	Gingival Biopsy to Detect Mosaicism in Overgrowth Syndromes: Report of Two Cases of Megalencephaly-Capillary Malformation Syndrome with Periodontal Anomalies. ⁶¹	Marty M...Bailleul-Forestier I	33005459	2020
29	Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy. ⁶¹	Bosch A...Estevez R	33551753	2020
30	Multimodal Analysis of STRADA Function in Brain Development. ⁶¹	Dang LT...Crino PB	32457579	2020
31	One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review. ⁶¹	Alsaedi SA...Shawli AM	31929958	2020
32	Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA. ⁶¹	Davis S...Mirzaa G	31729162	2020
33	Variants in nuclear factor I genes influence growth and development. ⁶¹	Zenker M...Hennekam RC	31730271	2019
34	EML1-associated brain overgrowth syndrome with ribbon-like heterotopia. ⁶¹	Oegema R...Lequin MH	31710781	2019
35	Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. ⁶¹	Dobyns WB...Mirzaa GM	31441589	2019
36	PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. ⁶¹	Abdin D...Di Donato N	30472487	2019
37	GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. ⁶¹	Iffland PH...Crino PB	31625153	2019
38	De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. ⁶¹	Horn S...Abou Jamra R	31504246	2019
39	Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit. ⁶¹	Perez-Rius C...Estevez R	31752924	2019
40	Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report. ⁶¹	Senjug P...Galesic Ljubanovic D	31686460	2019
41	Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population. ⁶¹	Polla DL...Jarvela I	30914828	2019
42	Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly. ⁶¹	De Meo-Monteil R...Saron CD	31157516	2019
43	RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant. ⁶¹	Kameli R...Tavasoli AR	31349848	2019
44	[Syndromes with vascular skin anomalies]. ⁶¹	Happle R	31111168	2019
45	MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. ⁶¹	Kato K...Saitoh S	30573562	2019
46	A Longitudinal Study of Local Gyrification Index in Young Boys With Autism Spectrum Disorder. ⁶¹	Libero LE...Nordahl CW	29850803	2019
47	Severe presentation and complex brain malformations in an individual carrying a CCND2 variant. ⁶¹	Cappuccio G...Brunetti-Pierri N	31056854	2019
48	Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. ⁶¹	Handoko M...Chao HT	30569621	2019
49	[Malformations of cortical development and epilepsy]. ⁶¹	Buompadre MC	31603842	2019
50	Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome. ⁶¹	Oishi S...Piper M	30503862	2019

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Genes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	1017.26	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23687350
2	TBC1D7-LOC100130357	TBC1D7-LOC100130357 Readthrough	Protein Coding	408.04	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	23687350

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Variations for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TBC1D7 , TBC1D7-LOC100130357	NM_016495.6(TBC1D7):c.538del (p.Tyr180fs)	Deletion	Pathogenic	89031	rs483352922	GRCh37: 6:13307959-13307959 GRCh38: 6:13307727-13307727
2	TBC1D7 , TBC1D7-LOC100130357	NM_016495.6(TBC1D7):c.18_21del (p.Arg7fs)	Deletion	Pathogenic	144034	rs587777652	GRCh37: 6:13327110-13327113 GRCh38: 6:13326878-13326881
3	TBC1D7 , TBC1D7-LOC100130357	NM_016495.6(TBC1D7):c.381+143C>T	SNV	Uncertain significance	1033329		GRCh37: 6:13320997-13320997 GRCh38: 6:13320765-13320765

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Expression for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive.

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Pathways for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Pathways related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

Pathways related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Vesicle-mediated transport ⁶⁵ Show member pathways Membrane Trafficking ⁶⁵	12.26	TBC1D7-LOC100130357 TBC1D7
2	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling Pathway ⁶⁴	11.42	TBC1D7-LOC100130357 TBC1D7
3	TBC/RABGAPs ⁶⁵	10.3	TBC1D7-LOC100130357 TBC1D7

Sources

GO Terms for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Cellular components related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic vesicle	GO:0031410	8.96	TBC1D7-LOC100130357 TBC1D7
2	ciliary basal body	GO:0036064	8.62	TBC1D7-LOC100130357 TBC1D7

Biological processes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of GTPase activity	GO:0043547	9.37	TBC1D7-LOC100130357 TBC1D7
2	activation of GTPase activity	GO:0090630	9.32	TBC1D7-LOC100130357 TBC1D7
3	positive regulation of protein ubiquitination	GO:0031398	9.26	TBC1D7-LOC100130357 TBC1D7
4	negative regulation of TOR signaling	GO:0032007	9.16	TBC1D7-LOC100130357 TBC1D7
5	response to growth factor	GO:0070848	8.96	TBC1D7-LOC100130357 TBC1D7
6	negative regulation of cilium assembly	GO:1902018	8.62	TBC1D7-LOC100130357 TBC1D7

Molecular functions related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	small GTPase binding	GO:0031267	8.96	TBC1D7-LOC100130357 TBC1D7
2	GTPase activator activity	GO:0005096	8.62	TBC1D7-LOC100130357 TBC1D7

Sources

Sources for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (MGCPH)

Aliases & Classifications for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

MalaCards integrated aliases for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Related Diseases for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Diseases related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Symptoms & Phenotypes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Human phenotypes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Interventional clinical trials:

Cochrane evidence based reviews: megalencephaly

Genetic Tests for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genetic tests related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Anatomical Context for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Publications for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Articles related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Genes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (2 elite genes):

Variations for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

ClinVar genetic disease variations for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive:

Expression for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Pathways for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Pathways related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to KEGG:

Pathways related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

GO Terms for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Cellular components related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

Biological processes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

Molecular functions related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive