Chondrodysplasia-Pseudohermaphroditism Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHN064 MIFTS: 37	Chondrodysplasia-Pseudohermaphroditism Syndrome Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards integrated aliases for Chondrodysplasia-Pseudohermaphroditism Syndrome:

Name: Chondrodysplasia-Pseudohermaphroditism Syndrome ⁵⁶ ¹² ¹⁵

Chondrodysplasia-Disorder of Sex Development Syndrome ¹² ⁵⁸

Nivelon-Nivelon-Mabille Syndrome ¹² ⁵⁸

Nivelon Nivelon Mabille Syndrome ⁴³ ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

chondrodysplasia-pseudohermaphroditism syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: 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 ⁵⁶ 600092

MeSH ⁴³ 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 Chondrodysplasia-Pseudohermaphroditism Syndrome

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

MalaCards based summary : Chondrodysplasia-Pseudohermaphroditism Syndrome, also known as chondrodysplasia-disorder of sex development syndrome, is related to 45,x/46,xy mixed gonadal dysgenesis and corticosterone methyloxidase type i deficiency. An important gene associated with Chondrodysplasia-Pseudohermaphroditism Syndrome is HHAT (Hedgehog Acyltransferase), and among its related pathways/superpathways are Endochondral Ossification and Hedgehog Signaling Pathway (WikiPathways). Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia

More information from OMIM: 600092

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Related Diseases for Chondrodysplasia-Pseudohermaphroditism Syndrome

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

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	45,x/46,xy mixed gonadal dysgenesis	10.2	WNT4 NR0B1
2	corticosterone methyloxidase type i deficiency	10.1	NR5A1 NR0B1
3	autosomal dominant non-syndromic intellectual disability 8	10.0	RPS3A FOXL2
4	brachydactyly, type a1, b	10.0	PTCH1 IHH
5	adrenal hypoplasia, congenital	10.0	WNT4 NR5A1 NR0B1
6	amenorrhea	10.0	WNT4 NR5A1 FOXL2
7	micronodular basal cell carcinoma	10.0	SOX9 PTCH1
8	acrocapitofemoral dysplasia	9.9	WWC3 IHH
9	tumoral calcinosis, hyperphosphatemic, familial, 1	9.9	PTCH1 IHH HHAT
10	larsen-like syndrome b3gat3 type	9.9	TRIM8 MAF
11	mixed gonadal dysgenesis	9.9	SOX9 NR5A1 FOXL2
12	46,xx sex reversal 1	9.9	SOX9 NR5A1 NR0B1
13	ciliary dyskinesia, primary, 8	9.9	TRIM8 MAF
14	juvenile type testicular granulosa cell tumor	9.8	WT1 FOXL2
15	testicular granulosa cell tumor	9.8	WT1 FOXL2
16	ciliary dyskinesia, primary, 4	9.8	TRIM8 MAF
17	nonsyndromic disorders of testicular development	9.8	WNT4 NR5A1 NR0B1 MAP3K1
18	mullerian aplasia and hyperandrogenism	9.8	WNT4 FOXL2
19	craniopharyngioma	9.7	SOX9 PTCH1 NR5A1
20	pseudohermaphroditism	9.7	WT1 NR5A1 NR0B1
21	microcystic stromal tumor	9.7	WT1 NR5A1 FOXL2
22	ovarian sex-cord stromal tumor	9.7	WT1 NR5A1 FOXL2
23	hermaphroditism	9.7	WNT4 SOX9 NR0B1 FOXL2
24	chromosome 2q35 duplication syndrome	9.7	SOX9 PTCH1 IHH
25	mayer-rokitansky-kuster-hauser syndrome	9.7	WT1 WNT4
26	sex cord-gonadal stromal tumor	9.7	WT1 NR5A1 FOXL2
27	nephrogenic adenofibroma	9.6	WT1 MAF
28	46,xy sex reversal 9	9.5	WT1 SOX9 NR5A1
29	frasier syndrome	9.5	WT1 SOX9 NR5A1
30	hypospadias	9.4	WT1 SOX9 NR5A1
31	46,xx sex reversal	9.4	WNT4 SOX9 NR5A1 NR0B1 FOXL2
32	basal cell carcinoma	9.4	WNT4 SOX9 PTCH1 IHH
33	gonadoblastoma	9.3	WT1 SOX9 NR5A1 FOXL2
34	ovarian gonadoblastoma	9.2	WT1 WNT4 SOX9 NR0B1
35	cryptorchidism, unilateral or bilateral	9.2	WT1 SOX9 NR5A1 NR0B1
36	46,xy partial gonadal dysgenesis	9.1	WT1 SOX9 NR5A1 NR0B1 MAP3K1
37	persistent mullerian duct syndrome	9.0	WT1 WNT4 SOX9 NR5A1 NR0B1
38	wilms tumor 1	9.0	WT1 WNT4 SOX9 NR5A1 NR0B1
39	gonadal dysgenesis	8.8	WT1 SOX9 NR5A1 NR0B1 MAP3K1 FOXL2
40	46,xy sex reversal 2	8.8	WT1 WNT4 SOX9 NR5A1 NR0B1 FOXL2
41	disorders of sexual development	8.8	WT1 WNT4 SOX9 NR5A1 NR0B1 FOXL2
42	premature ovarian failure 1	8.6	XPNPEP2 WT1 WNT4 SOX9 NR5A1 NR0B1
43	46,xy sex reversal	8.6	WT1 WNT4 SOX9 NR5A1 NR0B1 MAP3K1

Graphical network of the top 20 diseases related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

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Symptoms & Phenotypes for Chondrodysplasia-Pseudohermaphroditism Syndrome

Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

⁵⁸ ³¹ (show all 28)

#	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	abnormality of the shoulder ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003043
11	severe short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003510
12	increased skull ossification ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004330
13	broad long bones ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005622
14	short phalanx of finger ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009803
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 clavicle ³¹			HP:0000889
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	trapezoidal shaped vertebral bodies ³¹			HP:0005621

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

MGI Mouse Phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.91	FOXL2 HHAT IHH NR0B1 NR5A1 PTCH1
2	homeostasis/metabolism	MP:0005376	9.9	FOXL2 HHAT MAF MAP3K1 NR0B1 NR5A1
3	no phenotypic analysis	MP:0003012	9.43	FOXL2 IHH PTCH1 SOX9 WNT4 WT1
4	reproductive system	MP:0005389	9.23	FOXL2 HHAT NR0B1 NR5A1 PTCH1 SOX9

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Drugs & Therapeutics for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search Clinical Trials , NIH Clinical Center for Chondrodysplasia-Pseudohermaphroditism Syndrome

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

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Genetic Tests for Chondrodysplasia-Pseudohermaphroditism Syndrome

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Anatomical Context for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards organs/tissues related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

⁴⁰

Bone, Eye, Brain

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Publications for Chondrodysplasia-Pseudohermaphroditism Syndrome

Articles related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

#	Title	Authors	PMID	Year
1	New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome. ⁵⁶	Nivelon A...Ayme S	1342874	1992
2	Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. ⁶¹	Abdel-Salam GMH...Alkuraya FS	30912300	2019

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Genes for Chondrodysplasia-Pseudohermaphroditism Syndrome

Genes related to Chondrodysplasia-Pseudohermaphroditism Syndrome (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HHAT	Hedgehog Acyltransferase	Protein Coding	356.75	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
2	WWC3	WWC Family Member 3	Protein Coding	6.41	DISEASES inferred ¹⁵
3	XPNPEP2	X-Prolyl Aminopeptidase 2	Protein Coding	5.84	DISEASES inferred ¹⁵
4	TMPRSS15	Transmembrane Serine Protease 15	Protein Coding	5.1	DISEASES inferred ¹⁵
5	RPL19	Ribosomal Protein L19	Protein Coding	5.06	DISEASES inferred ¹⁵
6	TRIM8	Tripartite Motif Containing 8	Protein Coding	4.9	DISEASES inferred ¹⁵
7	FOXL2	Forkhead Box L2	Protein Coding	4.65	DISEASES inferred ¹⁵
8	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	4.62	DISEASES inferred ¹⁵
9	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	4.52	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	4.39	DISEASES inferred ¹⁵
12	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	4.35	DISEASES inferred ¹⁵
13	PTCH1	Patched 1	Protein Coding	3.87	DISEASES inferred ¹⁵
14	SOX9	SRY-Box Transcription Factor 9	Protein Coding	3.86	DISEASES inferred ¹⁵
15	MAF	MAF BZIP Transcription Factor	Protein Coding	3.81	DISEASES inferred ¹⁵
16	WT1	WT1 Transcription Factor	Protein Coding	3.66	DISEASES inferred ¹⁵
17	RPS3A	Ribosomal Protein S3A	Protein Coding	3.32	DISEASES inferred ¹⁵

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Variations for Chondrodysplasia-Pseudohermaphroditism Syndrome

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Expression for Chondrodysplasia-Pseudohermaphroditism Syndrome

Search GEO for disease gene expression data for Chondrodysplasia-Pseudohermaphroditism Syndrome.

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Pathways for Chondrodysplasia-Pseudohermaphroditism Syndrome

Pathways related to Chondrodysplasia-Pseudohermaphroditism Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Endochondral Ossification ¹	10.94	SOX9 PTCH1 IHH
2	Hedgehog Signaling Pathway (WikiPathways) ¹ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁵	10.43	PTCH1 IHH
3	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 Chondrodysplasia-Pseudohermaphroditism Syndrome

Biological processes related to Chondrodysplasia-Pseudohermaphroditism Syndrome according to GeneCards Suite gene sharing:

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.09	WT1 SOX9 NR5A1 MAF IHH FOXL2
2	cell differentiation	GO:0030154	10.05	WNT4 SOX9 RPS3A NR5A1 NR0B1 IHH
3	positive regulation of transcription, DNA-templated	GO:0045893	10	WT1 WNT4 SOX9 PTCH1 NR5A1 FOXL2
4	negative regulation of transcription by RNA polymerase II	GO:0000122	9.98	WWC3 WT1 SOX9 PTCH1 NR0B1 MAF
5	negative regulation of transcription, DNA-templated	GO:0045892	9.93	WT1 WNT4 SOX9 PTCH1 NR0B1 FOXL2
6	smoothened signaling pathway	GO:0007224	9.73	PTCH1 IHH HHAT
7	positive regulation of collagen biosynthetic process	GO:0032967	9.62	WNT4 IHH
8	positive regulation of mesenchymal cell proliferation	GO:0002053	9.62	SOX9 IHH
9	somite development	GO:0061053	9.61	PTCH1 IHH
10	hormone metabolic process	GO:0042445	9.6	WNT4 NR5A1
11	smooth muscle tissue development	GO:0048745	9.59	PTCH1 IHH
12	prostate gland development	GO:0030850	9.58	SOX9 PTCH1
13	gonad development	GO:0008406	9.58	WT1 NR0B1
14	female gonad development	GO:0008585	9.58	WNT4 NR5A1 FOXL2
15	mesenchymal to epithelial transition	GO:0060231	9.57	WT1 WNT4
16	Sertoli cell differentiation	GO:0060008	9.55	SOX9 NR0B1
17	chondrocyte differentiation involved in endochondral bone morphogenesis	GO:0003413	9.54	SOX9 IHH
18	male sex determination	GO:0030238	9.54	SOX9 NR5A1 NR0B1
19	positive regulation of male gonad development	GO:2000020	9.5	WT1 SOX9 NR5A1
20	negative regulation of female gonad development	GO:2000195	9.49	WT1 NR5A1
21	renal vesicle induction	GO:0072034	9.48	WNT4 SOX9
22	branching involved in ureteric bud morphogenesis	GO:0001658	9.46	WT1 WNT4 SOX9 PTCH1
23	sex determination	GO:0007530	9.43	WT1 NR5A1 NR0B1
24	male gonad development	GO:0008584	9.35	WT1 WNT4 SOX9 NR5A1 NR0B1
25	adrenal gland development	GO:0030325	8.92	WT1 WNT4 NR5A1 NR0B1

Molecular functions related to Chondrodysplasia-Pseudohermaphroditism Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.63	WT1 SOX9 NR5A1 NR0B1 MAF FOXL2
2	sequence-specific DNA binding	GO:0043565	9.1	WT1 SOX9 NR5A1 NR0B1 MAF FOXL2
3	patched binding	GO:0005113	8.96	PTCH1 IHH

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Sources for Chondrodysplasia-Pseudohermaphroditism Syndrome

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