Nivelon-Nivelon-Mabille Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NNMS MCID: NVL003 MIFTS: 42	Nivelon-Nivelon-Mabille Syndrome (NNMS) Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Nivelon-Nivelon-Mabille Syndrome

MalaCards integrated aliases for Nivelon-Nivelon-Mabille Syndrome:

Name: Nivelon-Nivelon-Mabille Syndrome ⁵⁷ ¹² ⁵⁸ ³⁶

Chondrodysplasia-Pseudohermaphroditism Syndrome ⁵⁷ ¹² ⁶ ¹⁵

Chondrodysplasia-Disorder of Sex Development Syndrome ¹² ⁵⁸

Nivelon Nivelon Mabille Syndrome ⁴⁴

Nnms ⁵⁷

Characteristics:

Orphanet epidemiological data:

⁵⁸

chondrodysplasia-disorder of sex development syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

nivelon-nivelon-mabille syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Reproductive diseases Bone diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁸

Rare eye diseases

Rare gynaecological and obstetric diseases

Rare bone diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060644

OMIM® ⁵⁷ 600092

KEGG ³⁶ H02479

MeSH ⁴⁴ C536123

SNOMED-CT ⁶⁷ 720851007

ICD10 via Orphanet ³³ Q87.1

UMLS via Orphanet ⁷² C1838654

Orphanet ⁵⁸ ORPHA1422

MedGen ⁴¹ C1838654

UMLS ⁷¹ C1838654

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Summaries for Nivelon-Nivelon-Mabille Syndrome

KEGG : ³⁶ Nivelon-Nivelon-Mabille syndrome (NNMS), previously known as chondrodysplasia-pseudohermaphrodism syndrome, is a rare autosomal recessive syndrome characterized by microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia. It has been reported that mutations in the hedgehog acyl-transferase gene (HHAT) cause NNMS.

MalaCards based summary : Nivelon-Nivelon-Mabille Syndrome, also known as chondrodysplasia-pseudohermaphroditism syndrome, is related to ancylostomiasis and 45,x/46,xy mixed gonadal dysgenesis. An important gene associated with Nivelon-Nivelon-Mabille Syndrome is HHAT (Hedgehog Acyltransferase), and among its related pathways/superpathways are Endochondral Ossification and Hedgehog signaling pathway (KEGG). Affiliated tissues include eye, bone and brain, and related phenotypes are intellectual disability and macrotia

Disease Ontology : ¹² A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.

OMIM® : ⁵⁷ Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). (600092) (Updated 05-Mar-2021)

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Related Diseases for Nivelon-Nivelon-Mabille Syndrome

Diseases related to Nivelon-Nivelon-Mabille Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)

#	Related Disease	Score	Top Affiliating Genes
1	ancylostomiasis	10.2	NR5A1 HHAT
2	45,x/46,xy mixed gonadal dysgenesis	10.1	WNT4 NR0B1
3	acrocapitofemoral dysplasia	10.1	WWC3 IHH
4	juvenile type testicular granulosa cell tumor	10.1	WT1 FOXL2
5	testicular granulosa cell tumor	10.1	WT1 FOXL2
6	mullerian aplasia and hyperandrogenism	10.1	WNT4 FOXL2
7	steroid inherited metabolic disorder	10.0	NR5A1 NR0B1
8	corticosterone methyloxidase type i deficiency	10.0	NR5A1 NR0B1
9	brachydactyly, type a1, b	10.0	PTCH1 IHH
10	mayer-rokitansky-kuster-hauser syndrome	10.0	WT1 WNT4
11	amenorrhea	10.0	WNT4 NR5A1 FOXL2
12	microcystic stromal tumor	9.9	WT1 NR5A1 FOXL2
13	ovarian sex-cord stromal tumor	9.9	WT1 NR5A1 FOXL2
14	holoprosencephaly 7	9.9	PTCH1 IHH HHAT
15	micronodular basal cell carcinoma	9.9	SOX9 PTCH1
16	sex cord-gonadal stromal tumor	9.9	WT1 NR5A1 FOXL2
17	adrenal cortical hypofunction	9.9	NR5A1 NR0B1
18	benign struma ovarii	9.9	WT1 PTCH1
19	larsen-like syndrome b3gat3 type	9.9	TRIM8 MAF
20	tumoral calcinosis, hyperphosphatemic, familial, 1	9.9	PTCH1 IHH HHAT
21	ciliary dyskinesia, primary, 8	9.9	TRIM8 MAF
22	denys-drash syndrome	9.9	WT1 NR5A1 NR0B1
23	ciliary dyskinesia, primary, 4	9.9	TRIM8 MAF
24	basal cell nevus syndrome	9.9	PTCH1 IHH HHAT
25	mixed gonadal dysgenesis	9.9	SOX9 NR5A1 FOXL2
26	blepharophimosis, ptosis, and epicanthus inversus	9.9	SOX9 NR5A1 FOXL2
27	campomelic dysplasia	9.9	SOX9 NR5A1 FOXL2
28	46,xx sex reversal 1	9.9	SOX9 NR5A1 NR0B1
29	nephrogenic adenofibroma	9.8	WT1 MAF
30	46 xx gonadal dysgenesis	9.8	NR5A1 FOXL2
31	nonsyndromic disorders of testicular development	9.8	WNT4 NR5A1 NR0B1 MAP3K1
32	cartilage disease	9.8	SOX9 IHH
33	46,xy sex reversal 9	9.8	WT1 SOX9 NR5A1
34	frasier syndrome	9.8	WT1 SOX9 NR5A1
35	craniopharyngioma	9.7	SOX9 PTCH1 NR5A1
36	hypospadias	9.7	WT1 SOX9 NR5A1
37	hermaphroditism	9.7	WNT4 SOX9 NR0B1 FOXL2
38	adrenal hypoplasia, congenital	9.7	WNT4 SOX9 NR5A1 NR0B1
39	chromosome 2q35 duplication syndrome	9.6	SOX9 PTCH1 IHH
40	cryptorchidism, unilateral or bilateral	9.6	WT1 SOX9 NR5A1 NR0B1
41	ovarian gonadoblastoma	9.6	WT1 WNT4 SOX9 NR0B1
42	46,xx sex reversal	9.5	WNT4 SOX9 NR5A1 NR0B1 FOXL2
43	wilms tumor 1	9.5	WT1 SOX9 NR5A1 NR0B1
44	gonadoblastoma	9.4	WT1 SOX9 NR5A1 NR0B1 FOXL2
45	46,xy partial gonadal dysgenesis	9.4	WT1 SOX9 NR5A1 NR0B1 MAP3K1
46	persistent mullerian duct syndrome	9.4	WT1 WNT4 SOX9 NR5A1 NR0B1
47	aniridia 1	9.3	WT1 SOX9 NR5A1 MAF
48	pseudohermaphroditism	9.3	WT1 WNT4 SOX9 NR5A1 NR0B1 HHAT
49	gonadal dysgenesis	9.3	WT1 SOX9 NR5A1 NR0B1 MAP3K1 FOXL2
50	46,xy sex reversal 2	9.2	WT1 WNT4 SOX9 NR5A1 NR0B1 FOXL2

Graphical network of the top 20 diseases related to Nivelon-Nivelon-Mabille Syndrome:

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Symptoms & Phenotypes for Nivelon-Nivelon-Mabille Syndrome

Human phenotypes related to Nivelon-Nivelon-Mabille Syndrome:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	macrotia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000400
3	microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	intrauterine growth retardation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001511
5	telecanthus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000506
6	abnormality of pelvic girdle bone morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002644
7	narrow chest ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000774
8	micromelia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002983
9	short metacarpal ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0010049
10	severe short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003510
11	increased skull ossification ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004330
12	broad long bones ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005622
13	short phalanx of finger ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009803
14	abnormal shoulder morphology ³¹	hallmark (90%)		HP:0003043
15	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
16	hypoplasia of the iris ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007676
17	chorioretinal coloboma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000567
18	deeply set eye ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000490
19	blepharophimosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000581
20	male pseudohermaphroditism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000037
21	miosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000616
22	cerebral hypoplasia ³¹	frequent (33%)		HP:0006872
23	abnormality of the shoulder ⁵⁸		Very frequent (99-80%)
24	cerebellar vermis hypoplasia ³¹			HP:0001320
25	brain very small ⁵⁸		Frequent (79-30%)
26	coloboma ³¹			HP:0000589
27	bell-shaped thorax ³¹			HP:0001591
28	abnormal clavicle morphology ³¹			HP:0000889
29	trapezoidal shaped vertebral bodies ³¹			HP:0005621

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar vermis hypoplasia

Head And Neck Eyes:
iris hypoplasia
optic disc coloboma

Growth Height:
dwarfism, severe antenatal

Genitourinary External Genitalia Female:
normal female genitalia

Skeletal:
chondrodysplasia

Laboratory Abnormalities:
46,xy karyotype (1 of 2 patients)

Skeletal Limbs:
micromelia

Skeletal Hands:
short metacarpals
short phalanges

Chest External Features:
narrow thorax

Chest Ribs Sternum Clavicles And Scapulae:
abnormal clavicles

Genitourinary Internal Genitalia Female:
normal female genitalia

Skeletal Spine:
trapezoid-shaped vertebral bodies

Clinical features from OMIM®:

600092 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Nivelon-Nivelon-Mabille Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.15	FOXL2 HHAT IHH MAF MAP3K1 NR5A1
2	endocrine/exocrine gland	MP:0005379	10.06	FOXL2 HHAT IHH NR0B1 NR5A1 PTCH1
3	homeostasis/metabolism	MP:0005376	10.06	FOXL2 HHAT MAF MAP3K1 NR0B1 NR5A1
4	embryo	MP:0005380	10.03	HHAT IHH MAF NR5A1 PTCH1 SOX9
5	limbs/digits/tail	MP:0005371	9.73	HHAT IHH MAF PTCH1 SOX9 WNT4
6	no phenotypic analysis	MP:0003012	9.63	FOXL2 IHH PTCH1 SOX9 WNT4 WT1
7	reproductive system	MP:0005389	9.56	FOXL2 HHAT NR0B1 NR5A1 PTCH1 SOX9
8	skeleton	MP:0005390	9.23	HHAT IHH MAP3K1 NR0B1 PTCH1 SOX9

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Drugs & Therapeutics for Nivelon-Nivelon-Mabille Syndrome

Search Clinical Trials , NIH Clinical Center for Nivelon-Nivelon-Mabille Syndrome

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

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Genetic Tests for Nivelon-Nivelon-Mabille Syndrome

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Anatomical Context for Nivelon-Nivelon-Mabille Syndrome

MalaCards organs/tissues related to Nivelon-Nivelon-Mabille Syndrome:

⁴⁰

Eye, Bone, Brain

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Publications for Nivelon-Nivelon-Mabille Syndrome

Articles related to Nivelon-Nivelon-Mabille Syndrome:

#	Title	Authors	PMID	Year
1	Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. ⁵⁷ ⁶ ⁶¹	Abdel-Salam GMH...Alkuraya FS	30912300	2019
2	Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling. ⁶ ⁵⁷	Callier P...Nef S	24784881	2014
3	Unique survival in chrondrodysplasia-hermaphrodism syndrome. ⁵⁷	Thauvin-Robinet C...Faivre L	15578577	2005
4	New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome. ⁵⁷	Nivelon A...Ayme S	1342874	1992

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Genes for Nivelon-Nivelon-Mabille Syndrome

Genes related to Nivelon-Nivelon-Mabille Syndrome (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HHAT	Hedgehog Acyltransferase	Protein Coding	1256.86	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵	24784881
2	WWC3	WWC Family Member 3	Protein Coding	6.33	DISEASES inferred ¹⁵
3	XPNPEP2	X-Prolyl Aminopeptidase 2	Protein Coding	5.86	DISEASES inferred ¹⁵
4	TMPRSS15	Transmembrane Serine Protease 15	Protein Coding	5.06	DISEASES inferred ¹⁵
5	RPL19	Ribosomal Protein L19	Protein Coding	5.01	DISEASES inferred ¹⁵
6	TRIM8	Tripartite Motif Containing 8	Protein Coding	4.86	DISEASES inferred ¹⁵
7	FOXL2	Forkhead Box L2	Protein Coding	4.72	DISEASES inferred ¹⁵
8	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	4.55	DISEASES inferred ¹⁵
9	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	4.54	DISEASES inferred ¹⁵
10	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	4.52	DISEASES inferred ¹⁵
11	WNT4	Wnt Family Member 4	Protein Coding	4.35	DISEASES inferred ¹⁵
12	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	4.33	DISEASES inferred ¹⁵
13	PTCH1	Patched 1	Protein Coding	3.83	DISEASES inferred ¹⁵
14	SOX9	SRY-Box Transcription Factor 9	Protein Coding	3.81	DISEASES inferred ¹⁵
15	MAF	MAF BZIP Transcription Factor	Protein Coding	3.78	DISEASES inferred ¹⁵
16	WT1	WT1 Transcription Factor	Protein Coding	3.59	DISEASES inferred ¹⁵

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Variations for Nivelon-Nivelon-Mabille Syndrome

ClinVar genetic disease variations for Nivelon-Nivelon-Mabille Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HHAT	NM_018194.6(HHAT):c.860G>T (p.Gly287Val)	SNV	Pathogenic	987946		1:210637852-210637852	1:210464508-210464508
2	HHAT	NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)	SNV	Pathogenic	987947		1:210591583-210591583	1:210418239-210418239

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Expression for Nivelon-Nivelon-Mabille Syndrome

Search GEO for disease gene expression data for Nivelon-Nivelon-Mabille Syndrome.

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Pathways for Nivelon-Nivelon-Mabille Syndrome

Pathways related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Endochondral Ossification ¹	11.14	SOX9 PTCH1 IHH
2	Hedgehog signaling pathway (KEGG) ³⁶	10.88	PTCH1 IHH HHAT
3	Hedgehog Signaling Pathway (WikiPathways) ¹ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁵	10.54	PTCH1 IHH
4	Signaling events mediated by the Hedgehog family ¹ Show member pathways Ligand-receptor interactions ⁶⁵	10.28	PTCH1 IHH HHAT

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GO Terms for Nivelon-Nivelon-Mabille Syndrome

Cellular components related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.1	WT1 SOX9 NR5A1 NR0B1 MAF FOXL2

Biological processes related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	10.04	WNT4 SOX9 NR5A1 NR0B1 IHH FOXL2
2	negative regulation of transcription by RNA polymerase II	GO:0000122	10.01	WWC3 WT1 SOX9 PTCH1 NR0B1 MAF
3	positive regulation of transcription, DNA-templated	GO:0045893	9.95	WT1 WNT4 TRIM8 SOX9 PTCH1 NR5A1
4	negative regulation of transcription, DNA-templated	GO:0045892	9.91	WT1 WNT4 SOX9 PTCH1 NR0B1 FOXL2
5	transcription initiation from RNA polymerase II promoter	GO:0006367	9.8	SOX9 NR5A1 NR0B1
6	smoothened signaling pathway	GO:0007224	9.72	PTCH1 IHH HHAT
7	positive regulation of collagen biosynthetic process	GO:0032967	9.62	WNT4 IHH
8	female gonad development	GO:0008585	9.62	WNT4 NR5A1
9	positive regulation of mesenchymal cell proliferation	GO:0002053	9.61	SOX9 IHH
10	somite development	GO:0061053	9.61	PTCH1 IHH
11	hormone metabolic process	GO:0042445	9.6	WNT4 NR5A1
12	prostate gland development	GO:0030850	9.59	SOX9 PTCH1
13	gonad development	GO:0008406	9.58	WT1 NR0B1
14	smooth muscle tissue development	GO:0048745	9.58	PTCH1 IHH
15	mesenchymal to epithelial transition	GO:0060231	9.56	WT1 WNT4
16	male sex determination	GO:0030238	9.54	SOX9 NR5A1 NR0B1
17	Sertoli cell differentiation	GO:0060008	9.52	SOX9 NR0B1
18	negative regulation of steroid biosynthetic process	GO:0010894	9.51	WNT4 NR0B1
19	positive regulation of male gonad development	GO:2000020	9.5	WT1 SOX9 NR5A1
20	chondrocyte differentiation involved in endochondral bone morphogenesis	GO:0003413	9.49	SOX9 IHH
21	negative regulation of female gonad development	GO:2000195	9.48	WT1 NR5A1
22	renal vesicle induction	GO:0072034	9.46	WNT4 SOX9
23	branching involved in ureteric bud morphogenesis	GO:0001658	9.46	WT1 WNT4 SOX9 PTCH1
24	sex determination	GO:0007530	9.43	WT1 NR5A1 NR0B1
25	male gonad development	GO:0008584	9.35	WT1 WNT4 SOX9 NR5A1 NR0B1
26	adrenal gland development	GO:0030325	8.92	WT1 WNT4 NR5A1 NR0B1

Molecular functions related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity	GO:0003700	9.55	WT1 SOX9 NR5A1 MAF FOXL2
2	sequence-specific DNA binding	GO:0043565	9.02	WT1 SOX9 NR5A1 MAF FOXL2
3	patched binding	GO:0005113	8.96	PTCH1 IHH

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Sources for Nivelon-Nivelon-Mabille Syndrome

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Nivelon-Nivelon-Mabille Syndrome (NNMS)

Aliases & Classifications for Nivelon-Nivelon-Mabille Syndrome

MalaCards integrated aliases for Nivelon-Nivelon-Mabille Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Nivelon-Nivelon-Mabille Syndrome

Related Diseases for Nivelon-Nivelon-Mabille Syndrome

Diseases related to Nivelon-Nivelon-Mabille Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Nivelon-Nivelon-Mabille Syndrome:

Symptoms & Phenotypes for Nivelon-Nivelon-Mabille Syndrome

Human phenotypes related to Nivelon-Nivelon-Mabille Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Nivelon-Nivelon-Mabille Syndrome:

Drugs & Therapeutics for Nivelon-Nivelon-Mabille Syndrome

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

Genetic Tests for Nivelon-Nivelon-Mabille Syndrome

Anatomical Context for Nivelon-Nivelon-Mabille Syndrome

MalaCards organs/tissues related to Nivelon-Nivelon-Mabille Syndrome:

Publications for Nivelon-Nivelon-Mabille Syndrome

Articles related to Nivelon-Nivelon-Mabille Syndrome:

Genes for Nivelon-Nivelon-Mabille Syndrome

Genes related to Nivelon-Nivelon-Mabille Syndrome (1 elite genes):

Variations for Nivelon-Nivelon-Mabille Syndrome

ClinVar genetic disease variations for Nivelon-Nivelon-Mabille Syndrome:

Expression for Nivelon-Nivelon-Mabille Syndrome

Pathways for Nivelon-Nivelon-Mabille Syndrome

Pathways related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

GO Terms for Nivelon-Nivelon-Mabille Syndrome

Cellular components related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Nivelon-Nivelon-Mabille Syndrome according to GeneCards Suite gene sharing:

Sources for Nivelon-Nivelon-Mabille Syndrome