Van Maldergem Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

VMLDS1 MCID: VNM003 MIFTS: 48	Van Maldergem Syndrome 1 (VMLDS1) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Van Maldergem Syndrome 1

MalaCards integrated aliases for Van Maldergem Syndrome 1:

Name: Van Maldergem Syndrome 1 ⁵⁶ ¹² ⁷³ ²⁹ ⁶ ¹⁵

Cerebrofacioarticular Syndrome ⁵⁶ ⁵⁸ ⁷³

Vmlds1 ⁵⁶ ⁷³

Van Maldergem Wetzburger Verloes Syndrome ⁷¹

Cerebro-Facio-Articular Syndrome ⁷³

Van Maldergem Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

cerebrofacioarticular syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
some features may be variable

HPO:

³¹

van maldergem syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Nephrological diseases Ear diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080585

OMIM ⁵⁶ 601390

OMIM Phenotypic Series ⁵⁶ PS601390

MeSH ⁴³ D000015 D008607

UMLS via Orphanet ⁷² C1832390

Orphanet ⁵⁸ ORPHA314679

MedGen ⁴¹ C1832390 C4551950

SNOMED-CT via HPO ⁶⁸ 105985007 111266001 11934000 more

UMLS ⁷¹ C1832390

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Summaries for Van Maldergem Syndrome 1

OMIM : ⁵⁶ Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia (summary by Cappello et al., 2013). (601390)

MalaCards based summary : Van Maldergem Syndrome 1, also known as cerebrofacioarticular syndrome, is related to van maldergem syndrome 2 and van maldergem syndrome. An important gene associated with Van Maldergem Syndrome 1 is DCHS1 (Dachsous Cadherin-Related 1), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and Relaxin signaling pathway. Affiliated tissues include brain, bone and heart, and related phenotypes are global developmental delay and abnormal facial shape

Disease Ontology : ¹² A Van Maldergem syndrome that has material basis in homozygous mutation in the DCHS1 gene on chromosome 11p15.

UniProtKB/Swiss-Prot : ⁷³ Van Maldergem syndrome 1: An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and skeletal and limb malformations. Some patients have renal hypoplasia. Brain MRI typically shows periventricular nodular heterotopia.

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Related Diseases for Van Maldergem Syndrome 1

Diseases in the Van Maldergem Syndrome family:

Van Maldergem Syndrome 1

Van Maldergem Syndrome 2

Diseases related to Van Maldergem Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 111)

#	Related Disease	Score	Top Affiliating Genes
1	van maldergem syndrome 2	35.2	FAT4 DCHS1
2	van maldergem syndrome	32.4	PCDH11X FAT4 DCHS1
3	cryptorchidism, unilateral or bilateral	29.3	PRL POMC GNRH1 ESR2
4	alacrima, achalasia, and mental retardation syndrome	10.5
5	hennekam syndrome	10.5
6	hereditary lymphedema i	10.4
7	microtia	10.4
8	fibrous dysplasia/mccune-albright syndrome	10.4	PRL GH1
9	telecanthus	10.4
10	hennekam lymphangiectasia-lymphedema syndrome 2	10.4
11	lymphangiectasis	10.4
12	hypotonia	10.4
13	gigantism	10.4	PRL GH1
14	tsh producing pituitary tumor	10.3	PRL GH1
15	acth-dependent cushing syndrome	10.3	PRL POMC
16	tuberculum sellae meningioma	10.3	PRL POMC
17	glossopharyngeal neuralgia	10.3	PTPRF POMC
18	sella turcica neoplasm	10.3	PRL POMC
19	prolactin producing pituitary tumor	10.3	PRL POMC
20	tetrahydrobiopterin deficiency	10.3	PRL GH1
21	pituitary infarct	10.3	PRL POMC
22	acidophil adenoma	10.3	PRL POMC
23	lymphocytic hypophysitis	10.3	POMC GH1
24	abducens nerve disease	10.3	PRL POMC
25	pituitary stalk interruption syndrome	10.3	PRL GH1
26	hormone producing pituitary cancer	10.3	PRL POMC
27	sheehan syndrome	10.3	PRL POMC
28	gangliocytoma	10.3	PRL POMC
29	nelson syndrome	10.2	PRL POMC
30	acth deficiency, isolated	10.2	PRL POMC
31	cranial nerve palsy	10.2	PRL POMC
32	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	10.2
33	epicanthus	10.2
34	hennekam lymphangiectasia-lymphedema syndrome 1	10.2
35	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
36	inguinal hernia	10.2
37	hypogonadotropic hypogonadism	10.2
38	blepharophimosis	10.2
39	clubfoot	10.2
40	hypogonadism	10.2
41	hip subluxation	10.2
42	polyp of corpus uteri	10.2	PRL GNRH1
43	pyometritis	10.2	PRL GNRH1
44	central precocious puberty	10.2	GNRH1 GH1
45	precocious puberty	10.2	GNRH1 GH1
46	salpingitis isthmica nodosa	10.1	PRL GNRH1
47	arachnoiditis	10.1	RICTOR POMC
48	intracranial hypertension, idiopathic	10.1	POMC GH1
49	ovarian benign neoplasm	10.1	PRL GNRH1
50	adenohypophysitis	10.1	PRL POMC GH1

Graphical network of the top 20 diseases related to Van Maldergem Syndrome 1:

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Symptoms & Phenotypes for Van Maldergem Syndrome 1

Human phenotypes related to Van Maldergem Syndrome 1:

⁵⁸ ³¹ (show top 50) (show all 76)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
2	abnormal facial shape ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001999
3	microtia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008551
4	camptodactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012385
5	infantile muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008947
6	osteopenia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000938
7	micrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000347
8	conductive hearing impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000405
9	intellectual disability, moderate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002342
10	renal hypoplasia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000089
11	large fontanelles ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000239
12	gastrostomy tube feeding in infancy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011471
13	syndactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001159
14	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
15	wide nasal bridge ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000431
16	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000252
17	short stature ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004322
18	intellectual disability, severe ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010864
19	ataxia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001251
20	lymphedema ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001004
21	narrow mouth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000160
22	epicanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000286
23	talipes equinovarus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001762
24	hypoplasia of the maxilla ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000327
25	ventriculomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002119
26	self-injurious behavior ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100716
27	hypospadias ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000047
28	blepharophimosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000581
29	pulmonic stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001642
30	agenesis of corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001274
31	tracheomalacia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002779
32	anteriorly placed anus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001545
33	hypoplasia of the corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002079
34	anal stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002025
35	abnormal heart morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001627
36	gray matter heterotopia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002282
37	cerebellar vermis hypoplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001320
38	absence of pubertal development ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008197
39	irregular dentition ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040079
40	caudal appendage ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002825
41	dysplastic corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006989
42	bilateral choanal atresia/stenosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0200138
43	intellectual disability ³¹			HP:0001249
44	skeletal dysplasia ³¹			HP:0002652
45	scoliosis ³¹			HP:0002650
46	dental malocclusion ³¹			HP:0000689
47	sensorineural hearing impairment ³¹			HP:0000407
48	feeding difficulties in infancy ⁵⁸		Very frequent (99-80%)
49	feeding difficulties ³¹			HP:0011968
50	growth delay ³¹			HP:0001510

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
intellectual disability
pachygyria
simplified gyral pattern
subcortical band heterotopia
periventricular nodular heterotopia
more

Head And Neck Eyes:
hypertelorism
ptosis
epicanthal folds
short palpebral fissures

Head And Neck Teeth:
dental malocclusion
irregular dentition

Head And Neck Face:
micrognathia
flat midface
maxillary hypoplasia
bitemporal narrowing

Abdomen Gastrointestinal:
anal atresia
anteriorly placed anus
poor feeding

Skin Nails Hair Skin:
sacral dimple

Skeletal Hands:
clinodactyly
syndactyly, cutaneous
hand deformities
short fourth metacarpals
flexion of the pip joints
more

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
high-arched palate
downturned mouth
tented upper lip
thick gums

Chest External Features:
narrow thorax

Head And Neck Head:
large anterior fontanels

Respiratory Airways:
tracheomalacia (tracheostomy may be required)

Skeletal:
skeletal dysplasia
osteopenia
joint laxity

Skeletal Spine:
scoliosis

Head And Neck Ears:
microtia
hearing loss, conductive
hearing loss, sensorineural
atresia of the external auditory canals

Skeletal Feet:
talipes equinovarus
foot deformities
short fourth metatarsals

Genitourinary External Genitalia Male:
hypospadias

Chest Ribs Sternum Clavicles And Scapulae:
short clavicles

Skeletal Skull:
wide cranial sutures
thickened skull base
thickened frontal bones

Head And Neck Nose:
broad nasal bridge
thickening of the nasal alae

Genitourinary Kidneys:
hypoplastic kidneys

Growth Other:
poor growth

Respiratory:
respiratory difficulties due to tracheomalacia

Skeletal Limbs:
subluxation of the radial heads

Clinical features from OMIM:

601390

MGI Mouse Phenotypes related to Van Maldergem Syndrome 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.9	C1QBP CDAN1 DCHS1 DCX ESR2 FAT4
2	endocrine/exocrine gland	MP:0005379	9.86	CDAN1 ESR2 FOS GNRH1 POMC PRL
3	neoplasm	MP:0002006	9.43	ESR2 FOS GNRH1 POMC PRL RICTOR
4	renal/urinary system	MP:0005367	9.23	DCHS1 ESR2 FAT4 GNRH1 POMC PPL

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Drugs & Therapeutics for Van Maldergem Syndrome 1

Search Clinical Trials , NIH Clinical Center for Van Maldergem Syndrome 1

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Genetic Tests for Van Maldergem Syndrome 1

Genetic tests related to Van Maldergem Syndrome 1:

#	Genetic test	Affiliating Genes
1	Van Maldergem Syndrome 1 ²⁹	DCHS1

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Anatomical Context for Van Maldergem Syndrome 1

MalaCards organs/tissues related to Van Maldergem Syndrome 1:

⁴⁰

Brain, Bone, Heart, Kidney, Trachea, Breast

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Publications for Van Maldergem Syndrome 1

Articles related to Van Maldergem Syndrome 1:

(show all 20)

#	Title	Authors	PMID	Year
1	Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. ⁶¹ ⁶ ⁵⁶	Mansour S...Newbury-Ecob R	22473091	2012
2	Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. ⁶ ⁵⁶	Cappello S...Robertson SP	24056717	2013
3	Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. ⁶ ⁶¹	Alders M...Hennekam RC	24913602	2014
4	A further patient with van Maldergem syndrome. ⁶ ⁶¹	Neuhann TM...Di Donato N	22469822	2012
5	Cerebro-facio-articular syndrome of Van Maldergem: confirmation of a new MR/MCA syndrome. ⁵⁶	Zampino G...Mastroiacovo P	8026105	1994
6	Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? ⁵⁶	van Maldergem L...Gillerot Y	1633641	1992
7	Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. ⁶	Hennekam RC...Tillemans AA	2624276	1989
8	Intestinal lymphangiectasia-A novel finding in Van Maldergem syndrome challenging the role of lymphedema for the distinction from Hennekam syndrome. ⁶¹	de Meij TGJ...Bokenkamp A	31063239	2019
9	Dchs1-Fat4 regulation of osteogenic differentiation in mouse. ⁶¹	Crespo-Enriquez I...Francis-West P	31358536	2019
10	Coexistence of genetic conditions: exploring a possible relationship. ⁶¹	Alaqeel B...Al Dubayee M	31384091	2019
11	Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes. ⁶¹	Ivanovski I...Hennekam RC	29681106	2018
12	A newborn diagnosed with van Maldergem syndrome. ⁶¹	Ulubas Isik D...Demirel N	29505454	2018
13	Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. ⁶¹	van der Ven AT...Hildebrandt F	28878612	2017
14	Neuron-specific knockdown of the Drosophila fat induces reduction of life span, deficient locomotive ability, shortening of motoneuron terminal branches and defects in axonal targeting. ⁶¹	Nakamura A...Yamaguchi M	28488382	2017
15	Middle ear abnormalities in Van Maldergem syndrome. ⁶¹	Verheij E...Topsakal V	27739185	2017
16	A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia. ⁶¹	Sotos J...White P	29046692	2017
17	Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture. ⁶¹	Beste C...Di Donato N	25930014	2016
18	Dachsous1b cadherin regulates actin and microtubule cytoskeleton during early zebrafish embryogenesis. ⁶¹	Li-Villarreal N...Solnica-Krezel L	26160902	2015
19	Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism. ⁶¹	Bianchin G...Polizzi V	26491591	2015
20	Regulation of neuronal migration by Dchs1-Fat4 planar cell polarity. ⁶¹	Zakaria S...Francis-West PH	24998526	2014

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Genes for Van Maldergem Syndrome 1

Genes related to Van Maldergem Syndrome 1 (2 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DCHS1	Dachsous Cadherin-Related 1	Protein Coding	1674.96	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	24056717 22473091
2	FAT4	FAT Atypical Cadherin 4	Protein Coding	355.01	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
3	PCDH11X	Protocadherin 11 X-Linked	Protein Coding	4.96	DISEASES inferred ¹⁵
4	PTPRF	Protein Tyrosine Phosphatase Receptor Type F	Protein Coding	4.95	DISEASES inferred ¹⁵
5	PRL	Prolactin	Protein Coding	4.72	DISEASES inferred ¹⁵
6	C1QBP	Complement C1q Binding Protein	Protein Coding	4.62	DISEASES inferred ¹⁵
7	PPL	Periplakin	Protein Coding	4.48	DISEASES inferred ¹⁵
8	GH1	Growth Hormone 1	Protein Coding	4.43	DISEASES inferred ¹⁵
9	CDAN1	Codanin 1	Protein Coding	4.32	DISEASES inferred ¹⁵
10	POMC	Proopiomelanocortin	Protein Coding	4.29	DISEASES inferred ¹⁵
11	DCX	Doublecortin	Protein Coding	4.27	DISEASES inferred ¹⁵
12	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	4.03	DISEASES inferred ¹⁵
13	GNRH1	Gonadotropin Releasing Hormone 1	Protein Coding	3.72	DISEASES inferred ¹⁵
14	CDH17	Cadherin 17	Protein Coding	3.66	DISEASES inferred ¹⁵
15	ESR2	Estrogen Receptor 2	Protein Coding	3.45	DISEASES inferred ¹⁵
16	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	3.25	DISEASES inferred ¹⁵

Sources

Variations for Van Maldergem Syndrome 1

ClinVar genetic disease variations for Van Maldergem Syndrome 1:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DCHS1	NM_003737.4(DCHS1):c.2503G>T (p.Gly835Ter)	SNV	Pathogenic	88997	rs483352917	11:6654240-6654240	11:6633009-6633009
2	DCHS1	NM_003737.4(DCHS1):c.2543del (p.Thr848fs)	deletion	Pathogenic	88998	rs483352918	11:6654200-6654200	11:6632969-6632969
3	DCHS1	NM_003737.4(DCHS1):c.7109A>T (p.Asn2370Ile)	SNV	Pathogenic	88999	rs483352919	11:6646466-6646466	11:6625235-6625235
4	FAT4	NM_001291303.3(FAT4):c.6700C>T (p.Arg2234Ter)	SNV	Likely pathogenic	666967		4:126336818-126336818	4:125415663-125415663
5	DCHS1	NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)	SNV	Conflicting interpretations of pathogenicity	437929	rs369091875	11:6654716-6654716	11:6633485-6633485
6	DCHS1	NM_003737.4(DCHS1):c.5821A>G (p.Ser1941Gly)	SNV	Uncertain significance	587461	rs1564861778	11:6648449-6648449	11:6627218-6627218
7	DCHS1	NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser)	SNV	Likely benign	224096	rs869312675	11:6651911-6651911	11:6630680-6630680
8	DCHS1	NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser)	SNV	Likely benign	224097	rs138340204	11:6653585-6653585	11:6632354-6632354

UniProtKB/Swiss-Prot genetic disease variations for Van Maldergem Syndrome 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	DCHS1	p.Asn2370Ile	VAR_070928	rs483352919

Sources

Expression for Van Maldergem Syndrome 1

Search GEO for disease gene expression data for Van Maldergem Syndrome 1.

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Pathways for Van Maldergem Syndrome 1

Pathways related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Nanog in Mammalian ESC Pluripotency ⁶³ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶³ eNOS Signaling ⁶³ GSK3 Signaling ⁶³	12.68	GNRH1 GH1 FOS ESR2 DCHS1 CDH17
2	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	12.26	POMC GH1 FOS ESR2
3	Prolactin Signaling Pathway ³⁶ ¹ Show member pathways Development Prolactin receptor signaling ²² Leptin signaling pathway ¹	11.71	PRL GH1 FOS ESR2
4	MNAR-PELP1 and Estrogen Receptor Interaction ⁶³	10.77	FOS ESR2
5	Glucocorticoid receptor regulatory network ¹	10.71	PRL POMC FOS
6	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.62	PRL POMC
7	Nongenotropic Androgen signaling ¹	10.51	GNRH1 FOS

Sources

GO Terms for Van Maldergem Syndrome 1

Cellular components related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endosome lumen	GO:0031904	8.62	PRL GH1

Biological processes related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell adhesion	GO:0007155	9.77	PTPRF PCDH11X FAT4 DCHS1 CDH17
2	female pregnancy	GO:0007565	9.5	PRL GNRH1 FOS
3	JAK-STAT cascade involved in growth hormone signaling pathway	GO:0060397	9.4	PRL GH1
4	nephron development	GO:0072006	9.26	FAT4 DCHS1
5	homophilic cell adhesion via plasma membrane adhesion molecules	GO:0007156	9.26	PCDH11X FAT4 DCHS1 CDH17
6	ossification involved in bone maturation	GO:0043931	9.16	FAT4 DCHS1
7	condensed mesenchymal cell proliferation	GO:0072137	8.62	FAT4 DCHS1

Molecular functions related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hormone activity	GO:0005179	9.26	PRL POMC GNRH1 GH1
2	prolactin receptor binding	GO:0005148	8.62	PRL GH1

Sources

Sources for Van Maldergem Syndrome 1

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 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 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

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⁴³ MeSH

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Van Maldergem Syndrome 1 (VMLDS1)

Aliases & Classifications for Van Maldergem Syndrome 1

MalaCards integrated aliases for Van Maldergem Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Van Maldergem Syndrome 1

Related Diseases for Van Maldergem Syndrome 1

Diseases in the Van Maldergem Syndrome family:

Diseases related to Van Maldergem Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Van Maldergem Syndrome 1:

Symptoms & Phenotypes for Van Maldergem Syndrome 1

Human phenotypes related to Van Maldergem Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Van Maldergem Syndrome 1:

Drugs & Therapeutics for Van Maldergem Syndrome 1

Genetic Tests for Van Maldergem Syndrome 1

Genetic tests related to Van Maldergem Syndrome 1:

Anatomical Context for Van Maldergem Syndrome 1

MalaCards organs/tissues related to Van Maldergem Syndrome 1:

Publications for Van Maldergem Syndrome 1

Articles related to Van Maldergem Syndrome 1:

Genes for Van Maldergem Syndrome 1

Genes related to Van Maldergem Syndrome 1 (2 elite genes):

Variations for Van Maldergem Syndrome 1

ClinVar genetic disease variations for Van Maldergem Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Van Maldergem Syndrome 1:

Expression for Van Maldergem Syndrome 1

Pathways for Van Maldergem Syndrome 1

Pathways related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Van Maldergem Syndrome 1

Cellular components related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Van Maldergem Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Van Maldergem Syndrome 1