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

MCID: CHN064 MIFTS: 20	Chondrodysplasia-Pseudohermaphroditism Syndrome Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases
Genes Tissues Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards integrated aliases for Chondrodysplasia-Pseudohermaphroditism Syndrome:

Name: Chondrodysplasia-Pseudohermaphroditism Syndrome ⁵⁸ ¹² ¹⁵

Chondrodysplasia-Disorder of Sex Development Syndrome ¹² ⁶⁰

Nivelon-Nivelon-Mabille Syndrome ¹² ⁶⁰

Nivelon Nivelon Mabille Syndrome ⁴⁵ ⁷⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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: ³⁵

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: ⁶⁰

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 ⁵⁸ 600092

MeSH ⁴⁵ C536123

ICD10 via Orphanet ³⁵ Q87.1

UMLS via Orphanet ⁷⁵ C1838654

Orphanet ⁶⁰ ORPHA1422

MedGen ⁴³ C1838654

UMLS ⁷⁴ 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, is also known as chondrodysplasia-disorder of sex development syndrome. An important gene associated with Chondrodysplasia-Pseudohermaphroditism Syndrome is HHAT (Hedgehog Acyltransferase). Affiliated tissues include bone, eye and brain, and related phenotypes are intellectual disability and macrotia

Description from OMIM: 600092

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Related Diseases for Chondrodysplasia-Pseudohermaphroditism Syndrome

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Symptoms & Phenotypes for Chondrodysplasia-Pseudohermaphroditism Syndrome

Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

⁶⁰ ³³ (show all 28)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	macrotia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000400
3	microcephaly ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	narrow chest ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000774
5	micromelia ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002983
6	intrauterine growth retardation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001511
7	telecanthus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000506
8	severe short stature ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003510
9	abnormality of pelvic girdle bone morphology ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002644
10	broad long bones ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0005622
11	short metacarpal ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0010049
12	abnormality of the shoulder ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0003043
13	increased skull ossification ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0004330
14	short phalanx of finger ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0009803
15	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
16	chorioretinal coloboma ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000567
17	deeply set eye ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000490
18	hypoplasia of the iris ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0007676
19	blepharophimosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000581
20	male pseudohermaphroditism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000037
21	miosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000616
22	cerebral hypoplasia ³³	frequent (33%)		HP:0006872
23	abnormality of the clavicle ³³			HP:0000889
24	cerebellar vermis hypoplasia ³³			HP:0001320
25	brain very small ⁶⁰		Frequent (79-30%)
26	bell-shaped thorax ³³			HP:0001591
27	coloboma ³³			HP:0000589
28	trapezoidal shaped vertebral bodies ³³			HP:0005621

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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:

⁴²

Bone, Eye, Brain

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Publications for Chondrodysplasia-Pseudohermaphroditism Syndrome

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Genes for Chondrodysplasia-Pseudohermaphroditism Syndrome

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HHAT	Hedgehog Acyltransferase	Protein Coding	367	Causative germline mutation (loss of function) ⁶⁰ 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

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GO Terms for Chondrodysplasia-Pseudohermaphroditism Syndrome

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Sources for Chondrodysplasia-Pseudohermaphroditism Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia