MCID: ANT065
MIFTS: 20

Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis

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

Aliases & Classifications for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

MalaCards integrated aliases for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis:

Name: Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis 56 52
Jung Wolff Back Stahl Syndrome 52 71
Jung Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
jung syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

56
Inheritance:
autosomal recessive
? same as peters-plus syndrome (261540)


HPO:

31
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601427
MESH via Orphanet 44 C537694
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1832362
Orphanet 58 ORPHA2321
MedGen 41 C1832362
UMLS 71 C1832362

Summaries for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

MalaCards based summary : Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis, also known as jung wolff back stahl syndrome, is related to peters-plus syndrome and growth hormone deficiency. Affiliated tissues include eye, skin and pituitary, and related phenotypes are intellectual disability and hypothyroidism

More information from OMIM: 601427

Related Diseases for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Diseases related to Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 peters-plus syndrome 10.0
2 growth hormone deficiency 10.0

Symptoms & Phenotypes for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Human phenotypes related to Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
9 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
10 cerebellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001321
11 tracheal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002777
12 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
13 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
14 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
15 abnormality of the genital system 58 31 frequent (33%) Frequent (79-30%) HP:0000078
16 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
17 short neck 31 HP:0000470
18 hip dysplasia 31 HP:0001385
19 abnormality of the dentition 31 HP:0000164
20 abnormality of the thorax 31 HP:0000765
21 short foot 31 HP:0001773
22 growth delay 31 HP:0001510
23 abnormality of the skull 58 Frequent (79-30%)
24 dandy-walker malformation 31 HP:0001305
25 iris coloboma 31 HP:0000612
26 growth hormone deficiency 31 HP:0000824
27 hypoplasia of penis 31 HP:0008736
28 stenosis of the external auditory canal 31 HP:0000402
29 congenital hypothyroidism 31 HP:0000851
30 abnormal hair morphology 31 HP:0001595
31 ocular anterior segment dysgenesis 31 HP:0007700

Symptoms via clinical synopsis from OMIM:

56
Neck:
short neck

Neuro:
cerebellar hypoplasia
dandy-walker malformation

Eyes:
iris coloboma
anterior chamber cleavage disorder

G U:
hypoplasia of penis

Growth:
growth retardation

Ears:
narrow external auditory meatus

Thorax:
shield thorax

Joints:
hip dysplasia

Resp:
tracheal stenosis

Lab:
growth hormone deficiency

Endocrine:
congenital hypothyroidism

Limbs:
short feet

Teeth:
fusion of 1-2 lower incisors

Hair:
dense scalp hair

Clinical features from OMIM:

601427

Drugs & Therapeutics for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Search Clinical Trials , NIH Clinical Center for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis

Genetic Tests for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Anatomical Context for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

MalaCards organs/tissues related to Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis:

40
Eye, Skin, Pituitary

Publications for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Articles related to Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis:

# Title Authors PMID Year
1
Two unrelated children with developmental delay, short stature and anterior chamber cleavage disorder, cerebellar hypoplasia, endocrine disturbances and tracheostenosis: a new entity? 56
7537583 1995
2
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome? 61
19161143 2009

Variations for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Expression for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Search GEO for disease gene expression data for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis.

Pathways for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

GO Terms for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

Sources for Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia,...

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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