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

MGCPH MCID: MCR237 MIFTS: 32	Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (MGCPH) Categories: Bone diseases, Genetic diseases, Neuronal diseases
Genes Variations Tissues Related diseases 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 ⁷⁵ ⁴⁰ ⁷³

Mgcph ⁵⁷ ⁷⁵

Megalencephaly ⁴⁴

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

MedGen ⁴² C3806412

MeSH ⁴⁴ D058627

UMLS ⁷³ 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)

MalaCards based summary : Macrocephaly/megalencephaly Syndrome, Autosomal Recessive, also known as mgcph, is related to megalencephaly and megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1. 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 (KEGG) and PI3K / Akt Signaling. Affiliated tissues include bone and brain, and related phenotypes are macrocephaly and depressivity

UniProtKB/Swiss-Prot : ⁷⁵ 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 71)

#	Related Disease	Score	Top Affiliating Genes
1	megalencephaly	34.0	AKT3 TBC1D7
2	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	12.7
3	megalencephaly-capillary malformation-polymicrogyria syndrome	12.7
4	polyhydramnios, megalencephaly, and symptomatic epilepsy	12.5
5	leukoencephalopathy, cystic, without megalencephaly	12.5
6	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	12.4
7	megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	12.4
8	hemimegalencephaly	12.2
9	megalencephaly, autosomal dominant	12.2
10	megalencephaly with dysmyelination	12.1
11	isolated megalencephaly	12.1
12	focal alopecia congenital megalencephaly	12.0
13	rnase t2-deficient leukoencephalopathy	12.0
14	megalencephalic leukoencephalopathy with subcortical cysts 1	11.9
15	cowden syndrome 1	11.6
16	alexander disease	11.6
17	macrocephaly, benign familial	11.3
18	pik3ca-related overgrowth spectrum	11.1
19	neurofaciodigitorenal syndrome	11.0
20	mental retardation, autosomal recessive 34, with variant lissencephaly	11.0
21	early-onset parkinsonism-intellectual disability syndrome	11.0
22	macrocephaly, dysmorphic facies, and psychomotor retardation	11.0
23	polymicrogyria	10.5
24	hydrocephalus	10.5
25	polydactyly	10.4
26	epilepsy	10.2
27	autism	10.2
28	alacrima, achalasia, and mental retardation syndrome	10.1
29	tuberous sclerosis	10.1
30	polyhydramnios	10.1
31	achondroplasia	10.0
32	thanatophoric dysplasia, type i	10.0
33	periventricular nodular heterotopia	10.0
34	autism spectrum disorder	10.0
35	leukodystrophy	10.0
36	neonatal period electroclinical syndrome	10.0	AKT3 STXBP1
37	lennox-gastaut syndrome	9.9	AKT3 STXBP1
38	learning disability	9.9	FIBP RPS6KA3
39	cleft palate, isolated	9.9
40	macrodactyly	9.9
41	nevus, epidermal	9.9
42	sturge-weber syndrome	9.9
43	tuberous sclerosis 1	9.9
44	ataxia-telangiectasia	9.9
45	donohue syndrome	9.9
46	canavan disease	9.9
47	sudden infant death syndrome	9.9
48	band heterotopia	9.9
49	polymicrogyria, bilateral temporooccipital	9.9
50	muscle hypertrophy	9.9

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Head And Neck Face:
broad forehead
pointed chin
prognathism

Skeletal Limbs:
patellar subluxation (1 family)

Neurologic Central Nervous System:
intellectual disability
megalencephaly
delayed psychomotor development
speech delay
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

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

³² (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	macrocephaly ³²		HP:0000256
2	depressivity ³²		HP:0000716
3	intellectual disability ³²		HP:0001249
4	megalencephaly ³²		HP:0001355
5	coarse facial features ³²		HP:0000280
6	mandibular prognathia ³²		HP:0000303
7	global developmental delay ³²		HP:0001263
8	delayed speech and language development ³²		HP:0000750
9	optic atrophy ³²		HP:0000648
10	myopia ³²	occasional (7.5%)	HP:0000545
11	broad forehead ³²		HP:0000337
12	psychosis ³²	occasional (7.5%)	HP:0000709
13	abnormality of the musculature ³²		HP:0003011
14	pointed chin ³²		HP:0000307
15	astigmatism ³²	occasional (7.5%)	HP:0000483
16	adrenal medullary hypoplasia ³²		HP:0008239
17	scaphocephaly ³²		HP:0030799
18	patellar subluxation ³²	occasional (7.5%)	HP:0010499

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Drugs & Therapeutics for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Search Clinical Trials , 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

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Anatomical Context for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

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

⁴¹

Bone, Brain

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Publications for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

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Genes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (8 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	918.23	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)	23687350 24515783
2	NFIB	Nuclear Factor I B	Protein Coding	400	Pathogenic ⁶	21956720
3	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	400	Pathogenic ⁶
4	STXBP1	Syntaxin Binding Protein 1	Protein Coding	400	Pathogenic ⁶
5	SATB2	SATB Homeobox 2	Protein Coding	400	Pathogenic ⁶
6	FIBP	FGF1 Intracellular Binding Protein	Protein Coding	400	Pathogenic/Likely pathogenic ⁶
7	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	400	Pathogenic/Likely pathogenic ⁶
8	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	400	Pathogenic/Likely pathogenic ⁶

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Variations for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

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

⁶ (show top 50) (show all 87)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MLC1	NM_015166.3(MLC1): c.178-10T> A	single nucleotide variant	Likely pathogenic	rs80358243	GRCh37	Chromosome 22, 50521612: 50521612
2	MLC1	NM_015166.3(MLC1): c.178-10T> A	single nucleotide variant	Likely pathogenic	rs80358243	GRCh38	Chromosome 22, 50083183: 50083183
3	ABCC8	NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met)	single nucleotide variant	Likely pathogenic	rs141322087	GRCh37	Chromosome 11, 17426099: 17426099
4	ABCC8	NM_000352.4(ABCC8): c.3517G> A (p.Val1173Met)	single nucleotide variant	Likely pathogenic	rs141322087	GRCh38	Chromosome 11, 17404552: 17404552
5	AKT3	NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776935	GRCh37	Chromosome 1, 243668598: 243668598
6	AKT3	NM_005465.4(AKT3): c.1393C> T (p.Arg465Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587776935	GRCh38	Chromosome 1, 243505296: 243505296
7	TBC1D7	NM_016495.5(TBC1D7): c.538delT (p.Tyr180Thrfs)	deletion	Pathogenic	rs483352922	GRCh37	Chromosome 6, 13307959: 13307959
8	TBC1D7	NM_016495.5(TBC1D7): c.538delT (p.Tyr180Thrfs)	deletion	Pathogenic	rs483352922	GRCh38	Chromosome 6, 13307727: 13307727
9	TBC1D7	NM_016495.5(TBC1D7): c.18_21delGAGA (p.Arg7Thrfs)	deletion	Pathogenic	rs587777652	GRCh37	Chromosome 6, 13327110: 13327113
10	TBC1D7	NM_016495.5(TBC1D7): c.18_21delGAGA (p.Arg7Thrfs)	deletion	Pathogenic	rs587777652	GRCh38	Chromosome 6, 13326878: 13326881
11	NSD1	NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587784177	GRCh37	Chromosome 5, 176710828: 176710828
12	NSD1	NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587784177	GRCh38	Chromosome 5, 177283827: 177283827
13	FAM177A1	NM_001079519.1(FAM177A1): c.297dup (p.Trp100Metfs)	duplication	Likely pathogenic	rs730882244	GRCh38	Chromosome 14, 35077176: 35077176
14	FAM177A1	NM_001079519.1(FAM177A1): c.297dup (p.Trp100Metfs)	duplication	Likely pathogenic	rs730882244	GRCh37	Chromosome 14, 35546382: 35546382
15	FIBP	NM_198897.1(FIBP): c.673C> T (p.Gln225Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs786204849	GRCh38	Chromosome 11, 65885181: 65885181
16	FIBP	NM_198897.1(FIBP): c.673C> T (p.Gln225Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs786204849	GRCh37	Chromosome 11, 65652652: 65652652
17	TPTE	NM_199261.3(TPTE): c.1357-3_1357-2delTA	deletion	Uncertain significance	rs149363218	GRCh37	Chromosome 21, 10910401: 10910402
18	TPTE	NM_199261.3(TPTE): c.1357-3_1357-2delTA	deletion	Uncertain significance	rs149363218	GRCh38	Chromosome 21, 10602055: 10602056
19	SLC25A22	NM_024698.5(SLC25A22): c.679G> A (p.Val227Met)	single nucleotide variant	Uncertain significance	rs200603610	GRCh38	Chromosome 11, 792367: 792367
20	SLC25A22	NM_024698.5(SLC25A22): c.679G> A (p.Val227Met)	single nucleotide variant	Uncertain significance	rs200603610	GRCh37	Chromosome 11, 792367: 792367
21	COL11A2	NM_080680.2(COL11A2): c.4559G> A (p.Arg1520His)	single nucleotide variant	Uncertain significance	rs772567850	GRCh37	Chromosome 6, 33133517: 33133517
22	COL11A2	NM_080680.2(COL11A2): c.4559G> A (p.Arg1520His)	single nucleotide variant	Uncertain significance	rs772567850	GRCh38	Chromosome 6, 33165740: 33165740
23	KAT6B	NM_012330.3(KAT6B): c.1927A> T (p.Met643Leu)	single nucleotide variant	Uncertain significance	rs778899637	GRCh37	Chromosome 10, 76736022: 76736022
24	KAT6B	NM_012330.3(KAT6B): c.1927A> T (p.Met643Leu)	single nucleotide variant	Uncertain significance	rs778899637	GRCh38	Chromosome 10, 74976264: 74976264
25	MT-ND4	NC_012920.1: m.12013A> G	single nucleotide variant	Uncertain significance	rs1057516067	GRCh37	Chromosome MT, 12013: 12013
26	MT-ND4	NC_012920.1: m.12013A> G	single nucleotide variant	Uncertain significance	rs1057516067	GRCh38	Chromosome MT, 12013: 12013
27	MT-ND4	NC_012920.1: m.12018C> G	single nucleotide variant	Uncertain significance	rs1057516068	GRCh37	Chromosome MT, 12018: 12018
28	MT-ND4	NC_012920.1: m.12018C> G	single nucleotide variant	Uncertain significance	rs1057516068	GRCh38	Chromosome MT, 12018: 12018
29	MT-CYB	NC_012920.1: m.15246G> A	single nucleotide variant	Likely pathogenic	rs1057516075	GRCh37	Chromosome MT, 15246: 15246
30	MT-CYB	NC_012920.1: m.15246G> A	single nucleotide variant	Likely pathogenic	rs1057516075	GRCh38	Chromosome MT, 15246: 15246
31	BTD	NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs)	deletion	Uncertain significance	rs765906887	GRCh38	Chromosome 3, 15635479: 15635480
32	BTD	NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs)	deletion	Uncertain significance	rs765906887	GRCh37	Chromosome 3, 15676986: 15676987
33	NFIA	NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs)	deletion	Likely pathogenic	rs1057518992	GRCh37	Chromosome 1, 61824905: 61824905
34	NFIA	NM_001145511.1(NFIA): c.881delG (p.Gly294Glufs)	deletion	Likely pathogenic	rs1057518992	GRCh38	Chromosome 1, 61359233: 61359233
35	DOCK6	NM_020812.3(DOCK6): c.934C> T (p.His312Tyr)	single nucleotide variant	Uncertain significance	rs370838036	GRCh37	Chromosome 19, 11356328: 11356328
36	DOCK6	NM_020812.3(DOCK6): c.934C> T (p.His312Tyr)	single nucleotide variant	Uncertain significance	rs370838036	GRCh38	Chromosome 19, 11245652: 11245652
37	GLI3	NM_000168.5(GLI3): c.2000G> T (p.Arg667Leu)	single nucleotide variant	Uncertain significance	rs373926115	GRCh37	Chromosome 7, 42012039: 42012039
38	GLI3	NM_000168.5(GLI3): c.2000G> T (p.Arg667Leu)	single nucleotide variant	Uncertain significance	rs373926115	GRCh38	Chromosome 7, 41972440: 41972440
39	NFIB	NM_001190737.1(NFIB): c.265C> T (p.Arg89Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs764333096	GRCh38	Chromosome 9, 14307286: 14307286
40	NFIB	NM_001190737.1(NFIB): c.265C> T (p.Arg89Ter)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs764333096	GRCh37	Chromosome 9, 14307285: 14307285
41	BICD2	NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del)	deletion	Likely pathogenic	rs1064795760	GRCh38	Chromosome 9, 92719007: 92719009
42	BICD2	NM_001003800.1(BICD2): c.1636_1638delAAT (p.Asn546del)	deletion	Likely pathogenic	rs1064795760	GRCh37	Chromosome 9, 95481289: 95481291
43	TBC1D7	NM_016495.5(TBC1D7): c.747_748insA (p.Val250Serfs)	insertion	Pathogenic		GRCh37	Chromosome 6, 13306678: 13306678
44	TBC1D7	NM_016495.5(TBC1D7): c.747_748insA (p.Val250Serfs)	insertion	Pathogenic		GRCh38	Chromosome 6, 13306445: 13306446
45	ANKRD11	NM_001256182.1(ANKRD11): c.6919C> T (p.Pro2307Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs575642464	GRCh38	Chromosome 16, 89279623: 89279623
46	ANKRD11	NM_001256182.1(ANKRD11): c.6919C> T (p.Pro2307Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs575642464	GRCh37	Chromosome 16, 89346031: 89346031
47	SATB2	NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs)	deletion	Pathogenic		GRCh37	Chromosome 2, 200173568: 200173569
48	SATB2	NM_001172509.1(SATB2): c.1654_1655delAG (p.Arg552Glyfs)	deletion	Pathogenic		GRCh38	Chromosome 2, 199308845: 199308846
49	STXBP1	NM_003165.3(STXBP1): c.360delA (p.Lys120Asnfs)	deletion	Pathogenic		GRCh38	Chromosome 9, 127661136: 127661136
50	STXBP1	NM_003165.3(STXBP1): c.360delA (p.Lys120Asnfs)	deletion	Pathogenic		GRCh37	Chromosome 9, 130423415: 130423415

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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 GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	11.26	AKT3 RPS6KA3 TBC1D7
2	PI3K / Akt Signaling ⁴	11.12	AKT3 TBC1D7
3	Pathways Affected in Adenoid Cystic Carcinoma ¹	10.78	NFIB NSD1

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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	nucleus	GO:0005634	9.17	AKT3 FIBP NFIB NSD1 RPS6KA3 SATB2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet aggregation	GO:0070527	8.62	FIBP STXBP1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	8.8	NFIB NSD1 SATB2

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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

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Cochrane evidence based reviews: megalencephaly

Genetic Tests for 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

Genes for Macrocephaly/megalencephaly Syndrome, Autosomal Recessive

Genes related to Macrocephaly/megalencephaly Syndrome, Autosomal Recessive (8 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 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