MCID: CHN064
MIFTS: 37

Chondrodysplasia-Pseudohermaphroditism Syndrome

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Rare diseases, Reproductive diseases

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:

Orphanet: 58  
Rare eye diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

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:



Diseases related to Chondrodysplasia-Pseudohermaphroditism Syndrome

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

Drugs & Therapeutics for Chondrodysplasia-Pseudohermaphroditism Syndrome

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

Cochrane evidence based reviews: nivelon nivelon mabille syndrome

Genetic Tests for Chondrodysplasia-Pseudohermaphroditism Syndrome

Anatomical Context for Chondrodysplasia-Pseudohermaphroditism Syndrome

MalaCards organs/tissues related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

40
Bone, Eye, Brain

Publications for Chondrodysplasia-Pseudohermaphroditism Syndrome

Articles related to Chondrodysplasia-Pseudohermaphroditism Syndrome:

# Title Authors PMID Year
1
New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome. 56
1342874 1992
2
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. 61
30912300 2019

Variations for Chondrodysplasia-Pseudohermaphroditism Syndrome

Expression for Chondrodysplasia-Pseudohermaphroditism Syndrome

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

Pathways for Chondrodysplasia-Pseudohermaphroditism Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.94 SOX9 PTCH1 IHH
2
Show member pathways
10.43 PTCH1 IHH
3
Show member pathways
10.28 PTCH1 IHH HHAT

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

Sources for Chondrodysplasia-Pseudohermaphroditism Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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