Cerebellar Hypoplasia malady

NIH Rare Diseases: Cerebellar hypoplasia (CH) is a neurological condition in which the cerebellum is not completely developed or is smaller than it should be. It may occur with a variety of congenital syndromes, metabolic disorders and neurodegenerative disorders; therefore signs and symptoms may depend upon the associated condition an affected individual has. The most common findings are developmental and speech delay, poor muscle tone (hypotonia), ataxia and abnormal ocular (eye) movements. CH may range from mild or partial underdevelopment to complete absence (agenesis). It can be confined to the cerebellum, or also affect other central nervous system structures. The inheritance pattern may differ depending on the underlying cause of the condition. Treatment is generally symptomatic and supportive and depends upon the underlying disorder and the severity of symptoms.³⁰

MalaCards: Cerebellar Hypoplasia, also known as hypoplasia, is related to mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance and dyskeratosis congenita. An important gene associated with Cerebellar Hypoplasia is VLDLR (very low density lipoprotein receptor), and among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Guidance Cues and Growth Cone Motility. The compounds valproate and gaba have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and thyroid, and related mouse phenotypes are vision/eye and mortality/aging.

NINDS: Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.³¹

Wikipedia: Cerebellar hypoplasia is a rare embryonic developmental disorder in which the cerebellum is either...⁴⁴ more...

cerebellar hypoplasia 7 30 16 31 32 hypoplasia 43

Diseases related to cerebellar hypoplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 388)

id	Related Disease	Score	Top Affiliating Genes
1	mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance	32.6	OPHN1, HN1
2	dyskeratosis congenita	31.4	DKC1, DCLRE1B
3	x-linked mental retardation with epilepsy	29.2	ARX, OPHN1
4	lissencephaly	29.2	DAB1, ARX, PAFAH1B1, VLDLR, RELN, LRP8
5	microcephaly	28.2	DCLRE1B, DKC1, CASK, ARX, PAFAH1B1, POMGNT1
6	corpus callosum	27.7	DCX, DAB1, RPGRIP1L, ARX, PAFAH1B1
7	seizures	27.4	PAFAH1B1, VLDLR, EN2, PRL, OPHN1, DCX
8	coloboma	26.6	TMEM67, CC2D2A, POMGNT1, RPGRIP1L
9	brain malformations	26.1	PAFAH1B1, CASK, DCX, ARX
10	strabismus	26.0	OPHN1, LAMB2, VLDLR
11	meckel syndrome	25.6	CC2D2A, TMEM67, RPGRIP1L
12	cerebritis	25.5	RELN, VLDLR, PAFAH1B1, PAK3, ARX, DAB1
13	ataxia	25.3	OPHN1, TF, RPGRIP1L, PLP1, TMEM67, VLDLR
14	intellectual disability	23.9	ARX, PAFAH1B1, RELN, CASK, DCX, OPHN1
15	retinitis	22.8	DCX, CREB1, RPGRIP1L, TF, POMGNT1, PMM2
16	neuronitis	19.8	POMGNT1, EN2, PLP1, CREB1, SMN1, DAB1
17	subcortical laminar heterotopia	13.6	DCX, PAFAH1B1
18	lissencephaly 1	13.5	RELN, PAFAH1B1, DCX
19	dyskeratosis congenita autosomal dominant	13.5	TINF2, DKC1
20	focal epilepsy	13.5	RELN, DCX, PAFAH1B1
21	periventricular nodular heterotopia	13.4	PAFAH1B1, DCX, RELN
22	pachygyria	13.4	DCX, PAFAH1B1
23	lissencephaly x-linked	13.4	PAFAH1B1, ARX, DCX
24	heterotopia	13.4	RELN, PAFAH1B1, DCX
25	pmm2-cdg (cdg-ia)	13.2	TF, PMM2
26	congenital disorder of glycosylation	13.0	TF, PMM2
27	neuronal migration disorders	13.0	DCX, PAFAH1B1, RELN, POMGNT1, ARX
28	coach syndrome	13.0	RPGRIP1L, TMEM67, CC2D2A
29	congenital hepatic fibrosis	13.0	TMEM67, RPGRIP1L, CC2D2A
30	joubert syndrome and related disorders	13.0	CC2D2A, RPGRIP1L, TMEM67
31	focal segmental glomerulosclerosis	13.0	VLDLR, LAMB2, PAFAH1B1, TF
32	encephalocele	13.0	TMEM67, CC2D2A, RPGRIP1L
33	encephaloceles	13.0	RPGRIP1L, TMEM67, CC2D2A
34	blastoma	12.9	CREB1, DCX, WNT1
35	ganglioglioma	12.9	DCX, RELN, DAB1
36	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	12.9	CC2D2A, RPGRIP1L, TMEM67
37	oculomotor apraxia	12.9	RPGRIP1L, CC2D2A, TMEM67
38	asphyxiating thoracic dystrophy	12.9	TMEM67, RPGRIP1L, CC2D2A
39	optic atrophy	12.9	CASK, PLP1, POMGNT1, ARX
40	senior-loken syndrome	12.9	TMEM67, CC2D2A, RPGRIP1L
41	mental retardation, x-linked	12.9	CASK, HN1, ARX, OPHN1, PAK3
42	nephronophthisis	12.9	CC2D2A, TMEM67, RPGRIP1L
43	autistic disorder	12.8	EN2, DCX, PRL, RELN
44	apraxia	12.8	RPGRIP1L, TMEM67, CC2D2A
45	cocaine abuse	12.7	TF, PRL, PLP1
46	polydactyly	12.7	TMEM67, EN2, RPGRIP1L, CC2D2A
47	epilepsy syndrome	12.6	DCX, RELN, CREB1, ARX, OPHN1, PAFAH1B1
48	ullrich congenital muscular dystrophy	12.6	POMGNT1, LAMB2, CREB1
49	joubert syndrome	12.4	CC2D2A, WNT1, RPGRIP1L, TMEM67, EN2, EN1
50	melancholia	12.4	PLP1, PRL

Approved drugs:

Drug clinical trials:

Genetic tests related to cerebellar hypoplasia:

id	Genetic test	Affiliating Genes
1	Cerebellar Hypoplasia clinical/research

MalaCards organs/tissues related to cerebellar hypoplasia:

²²

MGI Mouse Phenotypes related to cerebellar hypoplasia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye phenotype	MP:0005391	7.3	POMGNT1, RPGRIP1L, PLP1, DAB1, PTF1A, CC2D2A
2	mortality/aging	MP:0010768	INF	PLP1, RPGRIP1L, TINF2, TF, DKC1, DCLRE1B
3	reproductive system phenotype	MP:0005389	INF	, PLP1, DKC1, DCX, PRL, POMGNT1
4	growth/size phenotype	MP:0005378	INF	RPGRIP1L, PLP1, , SMN1, TF, DKC1
5	nervous system phenotype	MP:0003631	INF	LRP8, WNT1, PMM2, POMGNT1, PRL, DCX
6	behavior/neurological phenotype	MP:0005386	INF	SMN1, , PLP1, DCX, PRL, OPHN1
7	embryogenesis phenotype	MP:0005380	INF	WNT1, PMM2, PRL, DCLRE1B, DKC1, RPGRIP1L
8	cellular phenotype	MP:0005384	INF	PTF1A, DAB1, SMN1, , PLP1, DKC1
9	homeostasis/metabolism phenotype	MP:0005376	INF	, PLP1, TF, DKC1, PRL, SMN1

Articles related to cerebellar hypoplasia:

(show all 25)

id	Title	Authors	Year	Affiliating Genes
1	Novel intragenic duplications and mutations of CASK i n patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). (21735175)	Hayashi S.... Inazawa J.	2012	CASK
2	Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. (21796728)	Pirozzi F.... Chiurazzi P.	2011	OPHN1
3	Novel intragenic deletion in OPHN1 in a family causin g XLMR with cerebellar hypoplasia and distinctive facial appearance. (20528889)	Al-Owain M.... Milunsky A.	2011	OPHN1
4	Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. (21885617)	Gulsuner S.... Ozcelik T.	2011	WDR81
5	Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. (20376468)	Lecourtois M.... LaquerriA"re A.	2010	ARX
6	Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. (18364738)	Turkmen S.... Mundlos S.	2008	VLDLR
7	Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. (18326629)	Ozcelik T.... Tan U.	2008	VLDLR
8	Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. (16080122)	Boycott K.M.... Parboosingh J.S.	2005	VLDLR
9	Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. (16221952)	Zanni G.... Chelly J.	2005	OPHN1
10	Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. (14566414)	Miyata H.... Vinters H.V.	2004	DAB1
11	Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. (12807966)	Philip N.... Villard L.	2003	OPHN1
12	Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (12805098)	Bergmann C.... Ramaekers V.T.	2003	OPHN1
13	Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia (12920791)	Honzik T.... Zeman J.	2003	PMM2
14	Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD. (12207929)	Voit T.... Herrmann R.	2002	LAMB2
15	Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy. (11815869)	Sarnat H.B.... Cheyette S.R.	2002	WNT1, EN2, EN1
16	Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. (10700701)	van Ommen C.H.... Jaeken J.	2000	PMM2
17	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (10973257)	Hong S.E.... Walsh C.A.	2000	LRP8, RELN
18	Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1. (10598835)	Muntoni F.... Dubowitz V.	1999	SMN1
19	Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. (10439959)	Tentler D.... Dahl N.	1999	OPHN1
20	Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. (10653312)	Illarioshkin S.N.... Ivanova-Smolenskaya I.A.	1999	DCX, PLP1
21	Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family. (10528257)	Megarbane A.... Loiselet J.	1999	SCAR2
22	Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. (10583221)	Knight S.W.... Dokal I.	1999	DKC1
23	X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. (8687195)	Illarioshkin S.N.... Tsuji S.	1996	PAK3, SCAX1
24	The Hoyeraal-Hreidarsson syndrome: the fourth case of a separate entity with prenatal growth retardation, progressive pancytopenia and cerebellar hypoplasia. (7607282)	Aalfs C.M.... Hennekam R.C.	1995	DKC1
25	Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. (2243234)	Abs R.... Martin J.J.	1990	PRL

Genes related to cerebellar hypoplasia according to GeneCards:

(show all 32)

id	Symbol	Description	Score	GeneCards Section Context
1	VLDLR	very low density lipoprotein receptor	11.1	Publications, Summaries
2	OPHN1	oligophrenin 1	11.1	Publications, Summaries
3	CHMRQ	Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion	11.1	Aliases & Descriptions
4	WNT1	wingless-type MMTV integration site family, member 1	11.1	Summaries, Publications
5	CASK	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	11.1	Summaries, Publications
6	RELN	reelin	11.1	Publications, Summaries
7	HN1	hematological and neurological expressed 1	11.0
8	DKC1	dyskeratosis congenita 1, dyskerin	11.0	Publications
9	DCX	doublecortin	11.0	Publications
10	PAFAH1B1	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	11.0
11	TF	transferrin	11.0
12	SCAX1	spinocerebellar ataxia, X-linked 1	11.0	Publications
13	SCAR2	spinocerebellar ataxia, autosomal recessive 2	11.0	Publications
14	PTF1A	pancreas specific transcription factor, 1a	11.0
15	TINF2	TERF1 (TRF1)-interacting nuclear factor 2	11.0
16	DCLRE1B	DNA cross-link repair 1B	11.0
17	EN1	engrailed homeobox 1	11.0	Publications
18	EN2	engrailed homeobox 2	11.0	Publications
19	ARX	aristaless related homeobox	11.0	Publications
20	LAMB2	laminin, beta 2 (laminin S)	11.0	Publications
21	POMGNT1	protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase	11.0
22	PMM2	phosphomannomutase 2	11.0	Publications
23	TMEM67	transmembrane protein 67	11.0
24	PLP1	proteolipid protein 1	11.0	Publications
25	LRP8	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	11.0	Publications
26	CC2D2A	coiled-coil and C2 domain containing 2A	11.0
27	RPGRIP1L	RPGRIP1-like	11.0
28	PAK3	p21 protein (Cdc42/Rac)-activated kinase 3	11.0	Publications
29	SMN1	survival of motor neuron 1, telomeric	11.0	Publications
30	PRL	prolactin	11.0	Publications
31	DAB1	disabled homolog 1 (Drosophila)	11.0	Publications
32	WDR81	WD repeat domain 81	10.1	Disorders, Publications

Pathways related to cerebellar hypoplasia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Reelin Pathway (Cajal-Retzius cells)36	8.6	LRP8, RELN, VLDLR, DAB1, WNT1
2	Guidance Cues and Growth Cone Motility36	8.6	PAK3, VLDLR, RELN, LRP8, DAB1

Compounds related to cerebellar hypoplasia according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	valproate32	INF	RELN, SMN1, , PRL
2	gaba32 42	INF	TF, PLP1, , ARX, RELN
3	cocaine32 9 9	INF	, PLP1, TF, PRL

Cellular components related to cerebellar hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule basal body	GO:005932	9.4	CC2D2A, TMEM67, RPGRIP1L

Biological processes related to cerebellar hypoplasia according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	cerebral cortex tangential migration	GO:021800	10.2	ARX, RELN
2	reelin-mediated signaling pathway	GO:038026	10.1	LRP8, RELN, VLDLR
3	layer formation in cerebral cortex	GO:021819	10.1	LRP8, PAFAH1B1
4	hindbrain development	GO:030902	10.1	EN1, EN2, PTF1A
5	midbrain development	GO:030901	10.1	EN1, EN2, WNT1
6	positive regulation of dendritic spine morphogenesis	GO:061003	10.1	LRP8, RELN
7	regulation of synaptic transmission	GO:050804	10.0	LRP8, RELN
8	telomere maintenance	GO:000723	9.8	TINF2, DKC1, DCLRE1B
9	positive regulation of dendrite development	GO:1900006	9.7	LRP8, VLDLR
10	ventral spinal cord development	GO:021517	9.7	RELN, VLDLR, DAB1
11	positive regulation of protein kinase activity	GO:045860	9.4	DAB1, VLDLR, RELN
12	dendrite development	GO:016358	9.3	DAB1, PAK3, RELN
13	neuron migration	GO:001764	9.2	DCX, DAB1, ARX, PAFAH1B1, RELN
14	axon guidance	GO:007411	INF	OPHN1, DCX, , ARX, LAMB2, RELN

Molecular functions related to cerebellar hypoplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	very-low-density lipoprotein particle receptor activity	GO:030229	10.0	LRP8, VLDLR
2	reelin receptor activity	GO:038025	9.7	LRP8, VLDLR