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

MCID: CHN064 MIFTS: 22	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 ⁵⁷ ¹²

Chondrodysplasia-Disorder of Sex Development Syndrome ¹² ⁵⁹

Nivelon-Nivelon-Mabille Syndrome ¹² ⁵⁹

Nivelon Nivelon Mabille Syndrome ⁴⁴ ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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: ³⁴

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: ⁵⁹

Rare eye diseases

Rare gynaecological and obstetric diseases

Rare bone diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 600092

Disease Ontology ¹² DOID:0060644

MeSH ⁴⁴ C536123

Orphanet ⁵⁹ ORPHA1422

UMLS via Orphanet ⁷⁴ C1838654

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C1838654

UMLS ⁷³ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

⁵⁹ ³² (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	macrotia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000400
3	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
4	strabismus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000486
5	narrow chest ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000774
6	micromelia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002983
7	intrauterine growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001511
8	telecanthus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000506
9	chorioretinal coloboma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000567
10	deeply set eye ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000490
11	hypoplasia of the iris ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0007676
12	severe short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003510
13	blepharophimosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000581
14	abnormality of pelvic girdle bone morphology ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002644
15	broad long bones ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005622
16	male pseudohermaphroditism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000037
17	short metacarpal ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010049
18	abnormality of the shoulder ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003043
19	miosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000616
20	brain very small ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001322
21	increased skull ossification ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004330
22	short phalanx of finger ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009803
23	abnormality of the clavicle ³²			HP:0000889
24	cerebellar vermis hypoplasia ³²			HP:0001320
25	bell-shaped thorax ³²			HP:0001591
26	coloboma ³²			HP:0000589
27	trapezoidal shaped vertebral bodies ³²			HP:0005621

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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:

⁴¹

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	350	Causative germline mutation (loss of function) ⁵⁹

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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

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹⁴ DiseaseEnhancer

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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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia